BRAF (B-Raf proto-oncogene, serine/threonine kinase)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 673
• Gene name: B-Raf proto-oncogene, serine/threonine kinase
• Gene symbol: BRAF
• Synonyms (NCBI Gene): B-RAF1, B-raf, BRAF-1, BRAF1, NS7, RAFB1
• Chromosome: 7
• Chromosome location: 7q34
• Summary: This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene,

SNPs Show/Hide all (107)

SNP ID	Visualize variation	Clinical significance	Consequence
rs113488022	A>C,G,T	Pathogenic, likely-pathogenic, uncertain-significance, other, drug-response	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913225	A>G	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913226	TTT>-	Likely-pathogenic	Non coding transcript variant, inframe deletion, intron variant, coding sequence variant
rs121913227	AC>CT,TT	Drug-response, pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913335	T>G	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913336	G>C,T	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913337	A>C,T	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913338	T>A,C,G	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913340	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913341	A>C,T	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913348	C>A,G,T	Pathogenic-likely-pathogenic, uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121913349	C>G,T	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121913351	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121913353	C>G,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121913355	C>A,G,T	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121913357	C>A,G,T	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs121913361	C>A,G,T	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913362	T>C	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913363	T>C	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913364	T>C,G	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913365	T>A,G	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913366	A>C,T	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913368	AG>GA	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913369	G>A,C	Pathogenic, likely-pathogenic	Missense variant, synonymous variant, intron variant, non coding transcript variant, coding sequence variant
rs121913370	T>C,G	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913371	G>A,T	Likely-pathogenic	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs121913372	CT>AA	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913373	C>T	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913375	G>A,C	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913376	C>A,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121913377	CA>AT,TT	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121913378	C>A,G,T	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs180177032	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177033	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177034	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177035	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177036	C>A,G	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177037	T>C,G	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177038	C>G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177039	T>A,C,G	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177040	T>C,G	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs180177041	C>G	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs180177042	A>C,T	Not-provided, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs387906660	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs387906661	T>G	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507465	T>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507466	T>A,C,G	Likely-pathogenic, pathogenic	Synonymous variant, non coding transcript variant, missense variant, coding sequence variant
rs397507467	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507469	G>T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507470	G>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507473	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507474	T>C,G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507475	A>G	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507476	T>A,G	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507477	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507478	C>A,G	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507479	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397507480	A>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs397507481	G>C,T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs397507483	C>A,T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs397507484	T>A,C,G	Likely-pathogenic, pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs397509343	A>C	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397516890	TCC>-	Pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs397516891	G>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397516892	G>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397516893	A>C	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397516894	G>A,C	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs397516895	A>T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs397516896	C>G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs397516897	TCA>-	Likely-pathogenic	Non coding transcript variant, inframe indel, coding sequence variant, intron variant
rs397516903	A>C,G	Likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs397516904	T>C,G	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397516905	C>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs606231228	C>A,G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs727502902	->TAG	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, inframe insertion
rs727502904	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs727504375	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs749287111	T>C,G	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs794727865	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs794729219	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs869025340	A>C,G,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs869025606	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs869025607	GTT>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs886041264	A>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1038048880	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057517915	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, intron variant
rs1057518105	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519718	CA>TC	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, intron variant
rs1057519719	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519720	CC>AA,GA	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1131692058	TCTACA>-	Pathogenic	Non coding transcript variant, coding sequence variant, splice acceptor variant, intron variant
rs1325951163	C>G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1481562268	C>A,T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1562931107	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs1562955153	->ACT	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe insertion
rs1562956929	->CAAATGATCCAGATCCAATTC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe insertion
rs1562957000	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1585930903	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs1585998247	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1586015221	G>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs1586126439	AGGTGCTGTCACATT>-	Drug-response	Inframe deletion, coding sequence variant, non coding transcript variant
rs1586126581	T>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1586126644	GC>TT	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1586140436	TGTTCC>-	Likely-pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs1586140512	T>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1586213318	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1586237312	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

miRNA Show/Hide all (15)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045803	hsa-miR-191-5p	CLASH	23622248
MIRT043975	hsa-miR-378a-5p	CLASH	23622248
MIRT037574	hsa-miR-744-5p	CLASH	23622248
MIRT053218	hsa-miR-143-3p	Luciferase reporter assay, qRT-PCR, Western blot	23128394
MIRT053219	hsa-miR-145-5p	Luciferase reporter assay, qRT-PCR, Western blot	23128394
MIRT731810	hsa-miR-579-3p	qRT-PCR, Western blot	27503895
MIRT731810	hsa-miR-579-3p	qRT-PCR, Western blot	27503895
MIRT731810	hsa-miR-579-3p	qRT-PCR, Western blot	27503895
MIRT731810	hsa-miR-579-3p	qRT-PCR, Western blot	27503895
MIRT735716	hsa-miR-30a-5p	qRT-PCR	32864858
MIRT735717	hsa-miR-98-5p	qRT-PCR	32864858
MIRT735718	hsa-miR-92a-3p	qRT-PCR	32864858
MIRT736154	hsa-miR-524-5p	Western blotting, Immunohistochemistry (IHC), qRT-PCR	33142243
MIRT736524	hsa-miR-193a-3p	Luciferase reporter assay, Western blotting	34288281
MIRT736524	hsa-miR-193a-3p	Luciferase reporter assay, Western blotting, Flow cytometry	34288281

Gene ontology (GO) Show/Hide all (90)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IDA	18567582, 29433126
GO:0000166	Function	Nucleotide binding	IEA
GO:0002318	Process	Myeloid progenitor cell differentiation	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004672	Function	Protein kinase activity	IDA	17563371
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	TAS	2284096
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	18567582, 19667065
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004708	Function	MAP kinase kinase activity	IMP	29433126
GO:0004709	Function	MAP kinase kinase kinase activity	IBA
GO:0005509	Function	Calcium ion binding	IDA	18567582
GO:0005515	Function	Protein binding	IPI	12620389, 15161933, 15778465, 16810323, 16888650, 17380122, 17563371, 17979178, 18567582, 20130576, 20141835, 21441910, 21478863, 21625473, 22169110, 22510884, 22939624, 23153539, 23680146, 23934108, 24255178, 24441586, 24746704, 25155755, 25241761, 25437913, 25600339, 26165597, 264
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005929	Component	Cilium	IDA
GO:0006468	Process	Protein phosphorylation	TAS	2284096
GO:0007165	Process	Signal transduction	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	18567582
GO:0008270	Function	Zinc ion binding	IEA
GO:0008542	Process	Visual learning	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	9207797
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	22065586
GO:0010764	Process	Negative regulation of fibroblast migration	IEA
GO:0010828	Process	Positive regulation of D-glucose transmembrane transport	IDA	23010278
GO:0016020	Component	Membrane	IEA
GO:0016079	Process	Synaptic vesicle exocytosis	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030878	Process	Thyroid gland development	IEA
GO:0031267	Function	Small GTPase binding	IPI	12194967
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IDA	19667065
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042802	Function	Identical protein binding	IPI	16858395, 19727074, 22169110, 22510884, 25155755, 25437913, 35512704
GO:0043005	Component	Neuron projection	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	19667065
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	TAS	9207797
GO:0043149	Process	Stress fiber assembly	IEA
GO:0043367	Process	CD4-positive, alpha-beta T cell differentiation	IEA
GO:0043368	Process	Positive T cell selection	IEA
GO:0043369	Process	CD4-positive or CD8-positive, alpha-beta T cell lineage commitment	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0044297	Component	Cell body	IEA
GO:0045580	Process	Regulation of T cell differentiation	IEA
GO:0046632	Process	Alpha-beta T cell differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048538	Process	Thymus development	IEA
GO:0048679	Process	Regulation of axon regeneration	IEA
GO:0048680	Process	Positive regulation of axon regeneration	IEA
GO:0050772	Process	Positive regulation of axonogenesis	IEA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0051496	Process	Positive regulation of stress fiber assembly	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060323	Process	Head morphogenesis	IEA
GO:0060324	Process	Face development	IEA
GO:0070371	Process	ERK1 and ERK2 cascade	IBA
GO:0070371	Process	ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	22065586
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0071277	Process	Cellular response to calcium ion	IDA	18567582
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0072577	Process	Endothelial cell apoptotic process	IEA
GO:0090150	Process	Establishment of protein localization to membrane	IDA	23010278
GO:0097110	Function	Scaffold protein binding	IPI	18567582
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IEA
GO:2000301	Process	Negative regulation of synaptic vesicle exocytosis	IEA
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IEA

Other IDs

• MIM: 164757
• HGNC: 1097
• e!Ensembl: ENSG00000157764

Protein

• UniProt ID: P15056
• Protein name: Serine/threonine-protein kinase B-raf (EC 2.7.11.1) (Proto-oncogene B-Raf) (p94) (v-Raf murine sarcoma viral oncogene homolog B1)
• Protein function: Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway (PubMed:21441910, PubMed:29433126). Phosph
• PDB: 1UWH , 1UWJ , 2FB8 , 2L05 , 3C4C , 3D4Q , 3IDP , 3II5 , 3NY5 , 3OG7 , 3PPJ , 3PPK , 3PRF , 3PRI , 3PSB , 3PSD , 3Q4C , 3Q96 , 3SKC , 3TV4 , 3TV6 , 4CQE , 4DBN , 4E26 , 4E4X , 4EHE , 4EHG , 4FC0 , 4FK3 , 4G9C , 4G9R , 4H58 , 4JVG , 4KSP , 4KSQ , 4MBJ , 4MNE , 4MNF , 4PP7 , 4R5Y , 4RZV , 4RZW , 4WO5 , 4XV1 , 4XV2 , 4XV3 , 4XV9 , 4YHT , 5C9C , 5CSW , 5CSX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00130	C1_1	235 → 282	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
  PF02196	RBD	156 → 225	Raf-like Ras-binding domain	Domain
  PF07714	PK_Tyr_Ser-Thr	457 → 714	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain and testis.
• Sequence:

  MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEEVWNIKQMIKLTQEH
  IEALLDKFGGEHNPPSIYLEAYEEYTSKLDALQQREQQLLESLGNGTDFSVSSSASMDTV
  TSSSSSSLSVLPSSLSVFQNPTDVARSNPKSPQKPIVRVFLPNKQRTVVPARCGVTVRDS
  LKKALMMRGLIPECCAVYRIQDGEKKPIGWDTDISWLTGEELHVEVLENVPLTTHNFVRK
  TFFTLAFCDFCRKLLFQGFRCQTCGYKFHQRCSTEVPLMCVNYDQLDLLFVSKFFEHHPI
  PQEEASLAETALTSGSSPSAPASDSIGPQILTSPSPSKSIPIPQPFRPADEDHRNQFGQR
  DRSSSAPNVHINTIEPVNIDDLIRDQGFRGDGGSTTGLSATPPASLPGSLTNVKALQKSP
  GPQRERKSSSSSEDRNRMKTLGRRDSSDDWEIPDGQITVGQRIGSGSFGTVYKGKWHGDV
  AVKMLNVTAPTPQQLQAFKNEVGVLRKTRHVNILLFMGYSTKPQLAIVTQWCEGSSLYHH
  LHIIETKFEMIKLIDIARQTAQGMDYLHAKSIIHRDLKSNNIFLHEDLTVKIGDFGLATV
  KSRWSGSHQFEQLSGSILWMAPEVIRMQDKNPYSFQSDVYAFGIVLYELMTGQLPYSNIN
  NRDQIIFMVGRGYLSPDLSKVRSNCPKAMKRLMAECLKKKRDERPLFPQILASIELLARS
  LPKIHRSASEPSLNRAGFQTEDFSLYACASPKTPIQAGGYGAFPVH

• Sequence length: 766

Pathways

KEGG Pathway	Reactome Pathway
EGFR tyrosine kinase inhibitor resistance	Spry regulation of FGF signaling
Endocrine resistance	Frs2-mediated activation
MAPK signaling pathway	RAF activation
ErbB signaling pathway	MAP2K and MAPK activation
Rap1 signaling pathway	Negative feedback regulation of MAPK pathway
cAMP signaling pathway	Negative regulation of MAPK pathway
Chemokine signaling pathway	Signaling by moderate kinase activity BRAF mutants
FoxO signaling pathway	Signaling by high-kinase activity BRAF mutants
mTOR signaling pathway	Signaling by BRAF and RAF fusions
Vascular smooth muscle contraction	Paradoxical activation of RAF signaling by kinase inactive BRAF
Focal adhesion	Signaling downstream of RAS mutants
Natural killer cell mediated cytotoxicity
Long-term potentiation
Neurotrophin signaling pathway
Serotonergic synapse
Long-term depression
Regulation of actin cytoskeleton
Insulin signaling pathway
Progesterone-mediated oocyte maturation
Parathyroid hormone synthesis, secretion and action
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Alcoholism
Hepatitis C
Hepatitis B
Pathways in cancer
Proteoglycans in cancer
Chemical carcinogenesis - reactive oxygen species
Colorectal cancer
Renal cell carcinoma
Pancreatic cancer
Endometrial cancer
Glioma
Prostate cancer
Thyroid cancer
Melanoma
Bladder cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal Show/Hide Causal Diseases (50)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Ataxia-telangiectasia syndrome	Pathogenic; Likely pathogenic	rs180177036, rs121913376	RCV001849264 RCV002051798	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRAF-related disorder	Pathogenic; Likely pathogenic	rs180177042, rs180177035, rs180177036, rs387906660, rs397507473, rs397507483	RCV005867936 RCV004752707 RCV003415705 RCV003398558 RCV003407389 RCV005867806	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carcinoma of colon	Pathogenic	rs180177032, rs180177033, rs121913348, rs121913364	RCV000014995 RCV000014996 RCV000014997 RCV000014999	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardio-facio-cutaneous syndrome	Pathogenic; Likely pathogenic	rs121913341, rs180177036, rs180177042, rs794729219, rs869025606, rs121913348, rs180177034, rs121913369, rs121913357, rs180177035, rs121913355, rs180177038, rs180177039, rs180177040, rs180177041, rs121913349, rs121913337, rs121913338, rs387906660, rs387906661, rs397507465, rs397507466, rs397507469, rs397507473, rs397507474, rs397507475, rs397507476, rs397507479, rs397507480, rs397507483, rs113488022, rs397507484, rs121913364, rs397516892, rs397516893, rs397516894, rs397516895, rs397516903, rs397516904, rs1586126581, rs1586140436, rs1586140512	RCV000154266 RCV000844617 RCV000150199 RCV002222430 RCV000208777 RCV000844618 RCV000033285 RCV000033333 RCV001778653 RCV000208766 RCV000211748 RCV000208764 RCV000844616 RCV000211750 RCV000211751 RCV000208775 RCV000824916 RCV000824926 RCV000824925 RCV003230371 RCV000211752 RCV000037955 RCV000037956 RCV000037957 RCV000033288 RCV000824917 RCV000037917 RCV000150208 RCV000150207 RCV001814021 RCV000037924 RCV000150205 RCV000037927 RCV000208758 RCV000208774 RCV000824928 RCV000150201 RCV000037921 RCV000037922 RCV000037923 RCV000037928 RCV000037929 RCV000037939 RCV000824912 RCV000208128 RCV000824920 RCV000824918 RCV000824919	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiofaciocutaneous syndrome 1	Pathogenic; Likely pathogenic	rs397507475, rs180177036, rs180177042, rs397516903, rs794729219, rs869025340, rs121913375, rs180177034, rs121913369, rs180177035, rs121913355, rs180177037, rs180177038, rs180177039, rs180177040, rs180177041, rs397507480, rs121913378, rs387906660, rs387906661, rs397507466, rs121913348, rs397507473, rs397507476, rs397507478, rs397507482, rs397507483, rs397507484, rs397507486, rs397516892, rs397516895, rs1585930903, rs1586237312, rs1800500908	RCV001785377 RCV004596077 RCV000767527 RCV001803101 RCV000184039 RCV005632316 RCV000856750 RCV000014998 RCV005222683 RCV000015007 RCV000015008 RCV000015009 RCV000015010 RCV000015011 RCV000015012 RCV000015013 RCV000015014 RCV000015015 RCV005256923 RCV000856751 RCV000515432 RCV000022680 RCV000515291 RCV002250499 RCV001807745 RCV001293860 RCV000824982 RCV001089762 RCV001775071 RCV000626038 RCV004515780 RCV000856749 RCV001705626 RCV002051799 RCV004999146 RCV002468592 RCV002051804 RCV000763165 RCV000999627 RCV000987982 RCV000987987 RCV001253374	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs138333692, rs397516904, rs180177035, rs180177036, rs180177038, rs180177040	RCV005520564 RCV004601118 RCV004018628 RCV004018629 RCV004018630 RCV004018631	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral arteriovenous malformation	Pathogenic	rs1585998247	RCV000860021	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Childhood ganglioglioma	Pathogenic	rs727502902	RCV000515781	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Pathogenic	rs2129018408	RCV002249304	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dandy-Walker syndrome	Likely pathogenic; Pathogenic	rs180177041	RCV001257953	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Pathogenic	rs121913364	RCV006253615	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Embryonal rhabdomyosarcoma	Pathogenic	rs397507465	RCV006253708	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cardiofaciocutaneous syndrome	Likely pathogenic; Pathogenic	rs180177039	RCV001273349	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gallbladder cancer	Likely pathogenic	rs1057519718	RCV001374449	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ganglioglioma	Pathogenic	rs121913355, rs121913338	RCV006253619 RCV006253620	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Genetic syndrome with a Dandy-Walker malformation as major feature	Likely pathogenic; Pathogenic	rs180177041	RCV000779634	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
High grade astrocytic tumor	Pathogenic	rs727502902	RCV006253837	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy 4	Pathogenic	rs1131692058	RCV000495877	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEOPARD syndrome 3	Likely pathogenic; Pathogenic	rs869025340, rs121913369, rs180177035, rs180177040, rs180177042, rs387906660, rs387906661, rs397507466, rs397516895	RCV005632316 RCV005222683 RCV001027771 RCV005603587 RCV000763164 RCV000515432 RCV000022681 RCV000171142 RCV000763165	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lip and oral cavity carcinoma	Pathogenic	rs1801030116	RCV001255637	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Low grade glioma	Pathogenic	rs397507475, rs727502902, rs121913355	RCV006254306 RCV006253836 RCV006253738	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung adenocarcinoma	Likely pathogenic; Pathogenic	rs121913370, rs121913364, rs121913351, rs121913366, rs121913338, rs397516896	RCV000430462 RCV000433498 RCV000015001 RCV000015002 RCV000426107 RCV000443573	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs180177037	RCV005644487	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung carcinoma	Likely pathogenic; Pathogenic	rs180177042, rs387906660, rs387906661, rs397507466, rs397516895	RCV000763164 RCV000515432 RCV000515363 RCV000515291 RCV000763165	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lymphatic malformation	Pathogenic	rs2535998776	RCV003445403	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant lymphoma, large B-cell, diffuse	Pathogenic	rs869025340	RCV003448979	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Pathogenic; Likely pathogenic	rs180177042, rs869025340, rs113488022	RCV004798786 RCV004798811 RCV005888882	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myoepithelial tumor	Likely pathogenic	rs121913378	RCV002463625	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nasopharyngeal carcinoma	Pathogenic	rs121913355	RCV006253618	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs121913370, rs121913364, rs121913355, rs121913338	RCV006273568 RCV005229793 RCV006273057 RCV005229794 RCV006273058	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm of the large intestine	Pathogenic	rs727502902	RCV000150195	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma	Pathogenic	rs121913364, rs121913366, rs121913355	RCV006253614 RCV006253616 RCV006253617	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic; Likely pathogenic	rs397507466, rs397516892	RCV002273939 RCV002273942	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-Hodgkin lymphoma	Likely pathogenic; Pathogenic	rs121913357, rs121913355, rs121913338	RCV000015004 RCV000015005 RCV000015006	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-small cell lung carcinoma	Likely pathogenic; Pathogenic	rs121913370, rs121913357, rs727502902, rs121913364, rs121913351, rs121913369, rs121913355, rs121913338, rs121913348, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897	RCV000154399 RCV000154398 RCV000150195 RCV000037938 RCV000037916 RCV000015003 RCV000150210 RCV000037932 RCV000037914 RCV000037915 RCV000037918 RCV000037919 RCV000037931 RCV000037934 RCV000037935 RCV000037937	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome	Pathogenic; Likely pathogenic	rs180177036, rs397516903, rs121913348, rs180177034, rs121913369, rs180177038, rs387906660, rs397507469, rs180177039, rs397507477, rs397507483, rs121913375, rs121913364, rs397516891, rs397507484, rs397516904, rs397516905, rs397509343	RCV000844617 RCV000824913 RCV000844618 RCV000033285 RCV000033333 RCV000211749 RCV000844616 RCV000211753 RCV000033288 RCV001261045 RCV000824923 RCV000844615 RCV000824927 RCV000150201 RCV000037920 RCV000037939 RCV000037953 RCV000824912 RCV000824915 RCV000037962 RCV000824914	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome 1	Pathogenic; Likely pathogenic	rs180177042, rs397516903, rs397509343, rs180177034, rs121913369, rs180177035, rs121913355, rs180177040, rs387906660, rs387906661, rs606231228, rs397507466, rs397516895	RCV000999624 RCV001803101 RCV003454374 RCV003150930 RCV000208539 RCV001813744 RCV003450641 RCV003450642 RCV000763164 RCV000208540 RCV000208548 RCV000515363 RCV000208560 RCV000515291 RCV000763165	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome 7	Likely pathogenic; Pathogenic	rs2129044284, rs121913341, rs180177042, rs397516903, rs869025340, rs180177034, rs121913369, rs180177035, rs121913355, rs180177040, rs387906660, rs387906661, rs606231228, rs397507466, rs397507484, rs397516895, rs397507478	RCV002468641 RCV005252774 RCV004783752 RCV001808428 RCV001781616 RCV003338381 RCV000030948 RCV001261967 RCV002287336 RCV005603587 RCV000763164 RCV000022678 RCV000022679 RCV000515363 RCV000022682 RCV000515291 RCV002510565 RCV000763165 RCV000824993	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome and Noonan-related syndrome	Likely pathogenic; Pathogenic	rs121913357, rs397516903, rs121913369, rs180177035, rs121913355, rs180177037, rs397507466, rs397507467, rs121913348, rs397507473, rs397507475, rs397507480, rs397509343	RCV001813396 RCV000788010 RCV001813207 RCV001813208 RCV001813209 RCV001813210 RCV000788013 RCV000788012 RCV000788011 RCV001813221 RCV001813222 RCV001813223 RCV001813224 RCV000788008 RCV000788009	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome with multiple lentigines	Likely pathogenic; Pathogenic	rs387906661, rs397507466	RCV000055896 RCV000055897	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian Sertoli-Leydig cell tumor	Likely pathogenic; Pathogenic	rs121913348	RCV006253709	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PHACE syndrome	Likely pathogenic; Pathogenic	rs180177041	RCV000779634	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilocytic astrocytoma	Pathogenic; Likely pathogenic	rs727502902, rs397516896, rs397516897	RCV006253835 RCV006253739 RCV006253740	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pineoblastoma	Pathogenic	rs2128999571	RCV006254305	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate cancer, hereditary, 1	Likely pathogenic; Pathogenic	rs794729219, rs121913349, rs397516896	RCV002291588 RCV002291625 RCV002291550	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RASopathy	Likely pathogenic; Pathogenic	rs2129044284, rs2129018408, rs121913341, rs180177036, rs180177042, rs397516904, rs397516903, rs794729219, rs121913375, rs121913348, rs180177034, rs121913369, rs121913338, rs180177035, rs121913355, rs180177037, rs180177038, rs180177039, rs180177040, rs397507480, rs121913349, rs387906660, rs387906661, rs606231228, rs397507465, rs397507466, rs397507467, rs397507469, rs397507470, rs397507473, rs121913376, rs397507475, rs397507477, rs397507479, rs397507483, rs113488022, rs397507484, rs121913364, rs869025340, rs397516893, rs397516905, rs1562955153, rs1562956929, rs1038048880, rs1586126581, rs397509343	RCV002034598 RCV005095821 RCV000522002 RCV000154481 RCV000689333 RCV000205969 RCV001212304 RCV000809145 RCV002516942 RCV001172278 RCV000033304 RCV001047900 RCV002513056 RCV001238853 RCV000033289 RCV000033307 RCV001172276 RCV000779848 RCV000033315 RCV000808147 RCV000474979 RCV001851863 RCV003540440 RCV000694211 RCV000796335 RCV000545320 RCV002513171 RCV000654966 RCV000191066 RCV000804367 RCV000469440 RCV000688777 RCV003539763 RCV003539764 RCV001193980 RCV000033302 RCV000797502 RCV000654957 RCV001172275 RCV000822490 RCV001852671 RCV002513320 RCV000521124 RCV000033332 RCV001172273 RCV000798913 RCV000033336 RCV003539770 RCV002531885 RCV001852794 RCV003539772 RCV000807047 RCV002513490 RCV001852795 RCV000736078 RCV000697258 RCV000736073 RCV000799408 RCV001856262 RCV001384671	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tethered cord	Likely pathogenic; Pathogenic	rs180177041	RCV000779634	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs113488022	RCV005888881	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 2	Pathogenic	rs121913364	RCV000015000	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vascular malformation	Pathogenic; Likely pathogenic	rs2129019628, rs121913353	RCV003493322 RCV004562228	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (92)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alveolar rhabdomyosarcoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOBLASTOMA	—	CTD	24859340	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANAPLASTIC ASTROCYTOMA	—	GenCC	20068183,26822237,25231549,24375920,26445861,29564591,28966033,37670377,23323158,27577993,21274720,23196000,28481359	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	31835028	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOVENOUS MALFORMATIONS, CEREBRAL	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	CTD	23817572	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma, low-grade, somatic	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA TELANGIECTASIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	31835028	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	31835028	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign metanephric tumor	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	31835028, 32606422, 33479212, 34002096	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAF-related spectrum disorder	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOGENESIS	—	CTD	24717435	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	27222248	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOFACIOCUTANEOUS SYNDROME	—	CTD, ClinGen, GWAS catalog, Orphanet CTD, ClinGen, GWAS catalog, Orphanet CTD, ClinGen, GWAS catalog, Orphanet	16439621, 16439621, 17703371, 16474404, 16825433, 19376813, 20301365, 23875798, 24409384, 25639853, 26472072	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSIC HAIRY CELL LEUKEMIA	—	Orphanet	21663470, 24241536	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	18718023, 25280562, 25701956, 27222248	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital long QT syndrome	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MALFORMATION SYNDROMES ASSOCIATED WITH SHORT STATURE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Costello syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD, ClinGen CTD, ClinGen	17703371	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CRANIOPHARYNGIOMA	—	CTD, Orphanet CTD, Orphanet	24413733	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING DISEASE	—	Orphanet	30093687	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic epithelial invagination containing papillae lined by columnar epithelium	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dabrafenib response	drug response	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	39046104	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	28869590	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA	—	Orphanet	12670889, 17891228, 25702102	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse leptomeningeal glioneuronal tumor	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse low-grade glioma, MAPK pathway–altered	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27-altered	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27M-mutant	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysembryoplastic neuroepithelial tumor	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial carcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermal nevus	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelioid Glioblastoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY TYPE 4	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LONG QT SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	23583981	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GOUT	—	GWAS catalog	39406924	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
IDH-wildtype glioblastoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KIDNEY NEOPLASMS	—	CTD	21813464	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEOPARD SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	17514646	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphangioma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHATIC METASTASIS	—	CTD	29426936	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	31835028	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant glioma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplastic disease	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant peripheral nerve sheath tumor	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA, CUTANEOUS MALIGNANT	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1	—	ClinVar, HPO ClinVar, HPO	24471909,19234609,32913988,20689758,24336498,15737846,16096377,22355009,20544847,15841378,23413975,26715644,22535154,16170021,17824790,23683178,25746037,16007203,21725359,22805292,24265154,16540682,23303445,15467732,23715574,20571072,19996208,23856246	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple myeloma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephroblastoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nodular ganglioneuroblastoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nongerminomatous germ cell tumor	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	31835028	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary thyroid carcinoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY-DEPENDENT CUSHINGS DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pleomorphic xanthoastrocytoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymorphous low grade neuroepithelial tumor of the young	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	25735316, 29610475	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	31835028, 32606422	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEZARY SYNDROME	—	CTD	26551667	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spindle cell sarcoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spitz Melanocytoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETHERED CORD SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER, PAPILLARY	—	CTD	27222248, 28030816	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid gland undifferentiated (anaplastic) carcinoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	16940797, 19878585, 21185263, 26751190, 30621213, 30935902	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	31835028	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	38162683	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	28869590, 32499647, 32514122, 32541925, 35551307, 38374256, 38685053, 40465716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR HYPERTROPHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (1048)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Absent eyebrow	Absent eyebrow	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Absent eyebrow	Absent eyebrow	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	BEFREE	23224067		★☆☆☆☆ Found in Text Mining only
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acral Lentiginous Malignant Melanoma	Acral Lentiginous Malignant Melanoma	BEFREE	16899595, 23993026, 25766129, 26138035, 26709572, 29512974, 29951919, 31021835		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	25329702	Associate	★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	25329702, 26575115, 29890543		★☆☆☆☆ Found in Text Mining only
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	30093687		★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	19342899, 26807515		★☆☆☆☆ Found in Text Mining only
Acute encephalopathy	Encephalopathy	BEFREE	30060710, 30414707, 30462361		★☆☆☆☆ Found in Text Mining only
Acute Kidney Tubular Necrosis	Renal tubular necrosis	BEFREE	28640105		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	28978109		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	20523244, 26855057		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	28765039		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	22845480		★☆☆☆☆ Found in Text Mining only
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	CTD_human_DG	24413733		★☆☆☆☆ Found in Text Mining only
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	BEFREE	27903124, 28840946, 29509940, 30074466, 30616515, 31200374		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	12438234, 14724583, 15729718, 16376942, 16413100, 16598499, 16721785, 17360030, 17393356, 18059232, 18636014, 18987552, 19369630, 20233436, 20591910, 20881644, 21161938, 21285991, 21307665, 21426297, 21457162, 21825258, 22228154, 22314188, 22361037, 22522845, 22699145, 22768234, 22825585, 23055340, 23158210, 23773459, 23791006, 23876834, 24297085, 24309328, 24338245, 24342286, 24500884, 24888229, 24979348, 25039399, 25169130, 25273224, 25326232, 25496852, 25602793, 25710585, 26066373, 26182302, 26301799, 26826419, 26892442, 27001432, 27105424, 27258561, 27403614, 27573925, 27682157, 28059096, 28135039, 28383426, 28429715, 28460459, 28762087, 28840016, 29248665, 29769567, 30591192, 30946937, 31282116, 31440061		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	14507635, 14688025, 14724583, 16721785, 17360030, 18636014, 19079609		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	19881948, 22245873, 25014730, 25710585, 27569082, 31519714		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	27105424		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	20686774, 21029218, 22446020, 23055340, 23606169, 23763264, 24355196, 26537294, 29193645, 30945755		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	12460919, 17459062, 18636014, 20381121, 20855837, 21483012, 22135231, 22707299, 23098378, 23131393, 23328547, 23927882, 24035431, 24888229, 25273224, 25288236, 25436800, 25556681, 25583765, 25878335, 25985019, 26045855, 26102513, 26200454, 26202550, 26237499, 26386083, 26463840, 26682952, 26711128, 26845116, 27080216, 27615396, 27742540, 27834212, 28012356, 28783725, 29401004, 29467863, 29487011, 30019008, 30060710, 30121391, 30268486, 30591192, 31234388, 31440061		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	22135231, 26463840		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CLINVAR_DG	22773810, 25157968, 26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	31848189		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	16721785, 18987552, 19079609		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	25636897		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	22305241, 23370429, 31020608		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12438234, 15247181, 15729718, 15991007, 16879389, 16918136, 17101316, 17119056, 17122504, 17204027, 17696956, 18086775, 19126563, 19440799, 19745699, 21307665, 21423154, 21615873, 21836484, 22287190, 22374786, 22684223, 22782936, 23825589, 23887306, 24434431, 24518818, 24612059, 24728704, 24752710, 24925057, 24962701, 24964857, 25050586, 25096573, 25216220, 25432628, 25613750, 26030242, 26681025, 26883113, 26910894, 27305845, 27329244, 27438990, 27930579, 27943267, 28429715, 29148535, 30815911, 31833094		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	16879389, 17671688		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	16937524, 17923875, 21263241		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	12438234, 15793287, 16906516, 17119056, 17273161, 17293392, 17696956, 18670349, 28513830, 30275180, 30620391		★☆☆☆☆ Found in Text Mining only
Adjustment Disorders	Adjustment Disorders	BEFREE	28220299		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	19498322		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	26710756, 28043156		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	19190079, 19498322		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	CTD_human_DG	23585556		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	35462410	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26855057		★☆☆☆☆ Found in Text Mining only
Adult Craniopharyngioma	Craniopharyngioma	CTD_human_DG	24413733		★☆☆☆☆ Found in Text Mining only
Adult Craniopharyngioma	Craniopharyngioma	BEFREE	26498373, 27258775, 27903124, 28984520, 30481321		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	22575864		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	30653166		★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	24335681		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	29878245		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	22568401, 22591444, 23082883, 26957305, 31630459		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	27776349		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34367470	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amegakaryocytic thrombocytopenia	Amegakaryocytic thrombocytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	24374844, 24749150, 24859340, 24993163, 25854168, 27681305, 28650588, 28658279, 28797453, 29103753, 29388014, 29546640, 29855709, 30208863, 30489659, 30561173, 30739334, 30811720, 30889301, 31041834, 31543246, 31781502		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ameloblastoma	Ameloblastoma	Pubtator	24374844, 24859340, 25854168, 28658279, 29388014, 30208863, 30216733, 30811720, 31340860, 32096304, 32388526, 32643344, 33144428, 33395399, 35468886, 35484883, 35676332, 35689405, 37077063, 37093491, 37646022, 38185471, 38504068, 39675431, 40253265	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ameloblastoma	Ameloblastoma	CTD_human_DG	24859340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anal carcinoma	Anal Cancer	BEFREE	25244542		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	15657897, 16601293, 17179987, 21274720, 21479234, 25260367, 25318587, 25862857, 26454767, 26521063, 27617932, 30615595, 31555347		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	Pubtator	25318587	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	CTD_human_DG	23817572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	25981859		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic astrocytoma	Anaplastic Astrocytoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	14602780, 15126572, 17453004, 18502330, 25894433		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligoastrocytoma	Anaplastic Oligoastrocytoma	BEFREE	30462564		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	14602780, 15195111, 15880523, 15980887, 16533790, 17317825, 17453004, 17465858, 17638058, 17989125, 18070147, 18458053, 18583391, 18753363, 18987168, 19156774, 19487299, 20578891, 21355020, 21716161, 21900390, 23746767, 23775351, 23833040, 24267151, 24295207, 24711431, 24770869, 25016932, 25285888, 25347569, 25576899, 25584719, 25961545, 26189429, 26286966, 26347145, 26384552, 26456083, 26943572, 26957611, 26980298, 27058903, 27179656, 27342857, 27618325, 27696251, 27697975, 27797976, 27880942, 28383817, 28423545, 28875621, 29072975, 29737325, 29742974, 29990309, 30075157, 30094711, 30327563, 30717908, 30758123, 31127889, 31230400, 31277524, 31322645, 31545405, 31555347, 31637475		★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	35641658	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	37358854	Associate	★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	16988471	Associate	★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	25787243		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	15247181, 15342696, 18451217, 18718023, 19127559, 20444249, 25341111, 28405764, 31243121, 33429770, 33675399, 35567913, 37023721, 38372057	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	31070306	Inhibit	★☆☆☆☆ Found in Text Mining only
Anomalous pulmonary artery	Anomalous Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29103024		★☆☆☆☆ Found in Text Mining only
Anus Neoplasms	Anus Neoplasms	BEFREE	27573925		★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apocrine adenoma	Apocrine Adenoma	BEFREE	29241739		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	34879709	Associate	★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations, Cerebral	Cerebral arteriovenous malformation	CLINVAR_DG	31891627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthralgia	Arthralgia	Pubtator	22554099	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	25806780, 31639332		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	20843808, 22615393	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	25382612		★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	CLINVAR_DG	16439621, 16474404, 19206169		★☆☆☆☆ Found in Text Mining only
Asthenia	Asthenia	Pubtator	27080216	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	18398503, 19016743, 19603027, 19794125, 20068183, 20730472, 21046410, 21113787, 21479234, 21636552, 21884820, 22157620, 22385786, 22568401, 22720693, 23442159, 23552385, 23702730, 24238153, 24252190, 24321241, 24345274, 25040262, 25318587, 25524464, 25885250, 26083571, 26115961, 26222501, 26314551, 26352988, 26810070, 26945035, 27253461, 27350555, 27416954, 27469209, 27608415, 27781490, 27910945, 28002790, 28069802, 28181325, 28293477, 28448514, 28453743, 28699883, 28960623, 28984141, 29039591, 29141672, 29392423, 29763623, 29768357, 29802359, 30462564, 30575814, 30876455, 31151904, 31329636, 31346129, 31748891, 31818130, 31941461, 32011515, 32228694, 32619305, 32648041, 32771057, 32859279, 32879641, 33009979, 33071274, 33346834, 33820494, 34355449, 34725042, 35210278, 35363819, 35945679, 36503484, 36826144, 37280243, 37656187, 38066633, 40164441	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	18398503, 19016743, 19543740, 19794125, 20068183, 20569675, 20976706, 21228927, 22038996, 22157620, 22568401, 22586120, 22710963, 24354918, 24532263, 25346165, 26115961, 26118895, 26602910, 28069802, 28082416, 28185325, 29902580, 30972500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	LHGDN	18398503, 18716556		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	20853079	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	19500021, 26189429, 31127889, 36617605, 37219859	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	28423545, 30327563, 31230400, 31637475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial myxoma familial	Atrial myxoma	Pubtator	33438848	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	32227455	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	25382612, 28502320		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29043574		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	32131760	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	18426810, 21909080, 23469895, 26944586, 28454296		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	21663470, 22246856, 24920406, 25480661, 26071465		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	16079850, 18650848, 22727996, 27769870, 28034324, 28834810		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of stomach	Benign Neoplasm Of Stomach	CGI_DG			★☆☆☆☆ Found in Text Mining only
Beta ketothiolase deficiency	Beta-ketothiolase deficiency	Pubtator	20952593, 23883275, 24297791	Associate	★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	27745798		★☆☆☆☆ Found in Text Mining only
Bile Duct Neoplasms	Bile duct neoplasms	Pubtator	36867406	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	15181454, 24309328		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	24309328, 30908307, 32100259, 33095329, 35583261, 36089135, 36715178, 37059834	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19404918, 23897969, 25767210		★☆☆☆☆ Found in Text Mining only
Blau syndrome	Blau syndrome	Pubtator	22506009	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	28679432, 36083130, 39727013	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	27541170, 35978321	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	28721890, 33578538, 40411977	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	20156809, 22385786, 24353007, 24823863, 24968695, 25484091, 25956405, 25991583, 26077004, 26457492, 26597176, 27251777, 27350555, 27529619, 27984673, 28094001, 28592387, 28721890, 29310328, 29846702, 29880583, 29976640, 31515514, 31748891, 31818130, 32313236, 32648041, 32843426, 32918774, 33611636, 33637608, 34625515, 34935978, 35247992, 36477181, 37589977, 38066633, 38219188, 39584754, 40457397	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	20156809, 21274720, 23414134, 23792568, 24353007, 24721513, 24725538, 24823863, 25382612, 25412762, 25484091, 25885250, 26597176, 27350555, 27984807, 28094001, 28303493, 28620782, 29200156, 29380516, 29976640, 30224756, 30629215, 31181803, 31258848, 31345255		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	CLINVAR_DG	22038996, 22586120, 26619011		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Brain Stem Glioma	Brain Stem Glioma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	30265855, 31466300, 31675726		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	30989623		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17314276, 22845480, 25257380, 26577839, 26600545, 28843257, 29805676, 30629215, 30659267, 31547956		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17314276, 19572105, 22252751, 23907581, 24489661, 25757876, 26577839, 26600545, 26661278, 27108388, 27350555, 30443844, 32348852	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31883527	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchial Diseases	Bronchial disease	Pubtator	33443864	Associate	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bundle-Branch Block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	30474563		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	39793164	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
C-cell hyperplasia of thyroid	Thyroid Hyperplasia	BEFREE	18502330		★☆☆☆☆ Found in Text Mining only
Cachexia	Cachexia	Pubtator	26189429	Associate	★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	28687736, 35879379, 37632946, 38066305	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12692057, 15729718, 18470905, 21185263, 22039425, 22258409, 22918165, 23449277, 24139215, 24300435, 24918610, 25502816, 25618114, 25890285, 26125698, 26681025, 27930579, 28281325, 28623901, 29694444, 30355600, 31446140, 31769353, 31821746, 31988198, 32995956, 34104084, 34794740, 34909843, 35332119, 35780657, 36579983, 38066305, 39724851	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoid Tumor	Carcinoid tumor	Pubtator	35821888, 40234130	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid, Goblet Cell	Carcinoma	BEFREE	24560515		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12644542, 12881714, 14507635, 14508525, 14534542, 14602780, 14991899, 15095090, 15102681, 15141374, 15221372, 15356022, 15475429, 15515191, 15644779, 15793287, 15948220, 15994075, 16007118, 16144912, 16452550, 16676402, 16721043, 16806438, 16953233, 17122504, 17195912, 17309670, 17453004, 17696956, 17699719, 17714762, 17974567, 18235983, 18987552, 19018267, 19147628, 19383911, 19440799, 19550369, 19955118, 20526288, 20587665, 20802181, 20979647, 21131838, 21136228, 21249150, 21297586, 21307665, 21615873, 21730982, 22102435, 22287190, 22304686, 22361037, 22417847, 22522845, 22654442, 22658382, 22675538, 22820660, 23354848, 23388101, 23594689, 23617638, 23657789, 23825589, 24157612, 24297085, 24372748, 24830619, 24832158, 25057166, 25710585, 25929517, 26030480, 26314551, 26892153, 27350555, 27738305, 28006055, 28059096, 28429715, 28884748, 28975450, 29695638, 29973234, 30575961, 30667539, 30826660, 31221175, 31545494		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	17453004, 21113787, 22809251, 24051699, 24422672, 26189429, 28552827, 28731042, 28875621, 28990704, 30051528, 33664427, 33761111, 33850302, 34120511, 34678532, 35900506, 36229858, 37465126	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	28343447	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	23398044	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	21274671, 27080216	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	27108388, 30813596	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	31924734	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22190283, 22258409, 26586395, 26758762, 29487225, 30981109, 31363003, 34007838, 34069882, 34909843, 35163468, 36122630	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of stomach	Stomach Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	23196793, 26430808, 34969785	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	25120313, 37746995	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19404844, 20853079, 25767210		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	CLINVAR_DG	12068308, 12460918, 12460919, 19010912, 19238210, 21483012, 22608338, 22649091, 22743296, 22773810, 22798288, 23524406, 23833300, 24035431		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12460918, 12460919, 16376942, 19010912, 21463141, 21483012, 21943394, 22407457, 22649091, 23900694, 24035431, 24297085, 24550319, 25153497, 25273224, 25706985, 25878335, 25894373, 25985019, 26200454, 26711930, 26916442, 27834212, 27863474, 27922010, 28012356, 28203297, 28625649, 28947956, 29348459, 29507487, 29516752, 29662630, 29723688, 30019008, 30224342, 31711466		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	UNIPROT_DG	12460919		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	18794094	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	19440799, 24293293, 25855536, 29903880, 34667063, 35302596, 38246222, 40274200	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19349352, 22727996, 27174587, 30200918, 31534204, 32639612, 33664427	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	28951314	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	17409805, 20237991, 20881644, 24297085, 24943872, 25589618, 25724524, 26084614, 27283860, 30279110, 32284020, 32362631, 33162799, 34678532, 39333222	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	19404918, 20853079	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	16687919, 21274671, 23957481, 24573469, 26084328, 28556451, 29939876		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	17309670, 22305241, 23370429, 31020608		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	26434631, 26826419, 27048246, 28940307, 30036245, 31557757, 31672771		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12644542, 12893203, 15904951, 17309670, 17318013, 18794094, 19240718, 19638206, 22271473, 22930283, 23965232, 24889043, 25370471, 26490654, 31146483		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	26925640		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	27105424, 29620581, 31688243		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	29620581, 37530323	Associate	★☆☆☆☆ Found in Text Mining only
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CLINVAR_DG	12692057, 15035987, 16439621, 16474404, 16804887, 16953233, 17366577, 17496923, 17551924, 17603482, 17703371, 17704260, 18039235, 18042262, 18060073, 18413255, 18451217, 18456719, 18470943, 18854871, 18953432, 19206169, 19376813, 19416762, 20186801, 20395089, 20523244, 21063443, 21784453, 21871821, 22301711, 22495831, 22876591, 22892241, 23026937, 23093928, 24037001, 24409384, 24451042, 24719372, 24775816, 25035421, 26619011		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	GENOMICS_ENGLAND_DG	16372351, 16825433, 19206169, 21396583, 23875798, 28650561		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CTD_human_DG	16439621, 17703371		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	UNIPROT_DG	16439621, 16474404, 18042262, 19206169		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CLINGEN_DG	16439621, 16474404, 19376813, 23875798, 24409384, 25639853, 26472072		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	BEFREE	16474404, 17366577, 17483702, 17567882, 18413255, 18456719, 18470943, 19096106, 19156172, 19416762, 20358587, 20395089, 20523244, 20735442, 20812000, 20859831, 21383153, 21784453, 21871821, 24303953, 25035421, 26784941, 26842671, 26855057, 27569062, 28650561, 28973166, 29084544, 29704308, 30414707, 30842599, 31125963, 31217210		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	ORPHANET_DG	16825433		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiofaciocutaneous syndrome	Cardiofaciocutaneous syndrome	Pubtator	17056636, 17483702, 18039235, 18854871, 19096106, 19156172, 19206169, 20186801, 21062266, 21495173, 23379592, 26784941, 27569062, 27799561, 29084544, 29158583, 31217210, 31560489, 33482860, 34573299, 35509048, 35524774, 36448195, 37697378	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiofaciocutaneous syndrome	Cardiofaciocutaneous Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated 1l	Dilated cardiomyopathy	Pubtator	35189530	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	26784941, 27569062, 29696744, 30732632	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	36896641, 37534686, 37809108	Associate	★☆☆☆☆ Found in Text Mining only
Carney Triad	Carney complex	Pubtator	22948025	Associate	★☆☆☆☆ Found in Text Mining only
Cecal Neoplasms	Cecal neoplasms	Pubtator	36352809	Associate	★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	24725538, 31685033	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	19936769, 22157620, 24725538, 24823863, 25484091, 26115961, 26681766, 31515514, 31685033, 32879641	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	22157620, 24725538, 24821190, 24823863, 25484091, 26115961, 27350555, 30557911, 31181803, 31515514		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy Familial	Cerebral amyloid angiopathy	Pubtator	37071871	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	23242278, 23552385, 26855057		★☆☆☆☆ Found in Text Mining only
Childhood Brain Stem Glioma	Brain Stem Glioma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Childhood Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Childhood Ganglioglioma	Ganglioglioma	BEFREE	22082607, 22892521, 23435618, 23822828, 24792487, 25524464, 26432496, 27015517, 27671879, 27792249, 27799506, 27860162, 27984673, 28069802, 28293477, 29902580, 30224756, 30984614, 31147230, 31147232, 31667545		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Childhood Ganglioglioma	Ganglioglioma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	24335681		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	29878245		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	22568401, 22591444, 23082883, 26957305, 31630459		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	12692057, 17266941, 21051183, 23391413, 23844038, 24309328, 27203373, 27745798, 31221175		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	12692057, 24139215, 24309328, 24867389, 25536104, 26189129, 27745798, 29622700, 30908307, 35986087, 36282887, 36867406, 39273408, 40163685	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholecystolithiasis	Pubtator	37620872	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	19407855, 21171079		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	22012135		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	20485284, 24651849, 37364232	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	CLINVAR_DG	18060073, 25157968, 26619011		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22230299, 23088640, 25329694, 26071465, 29296862, 30262568, 31317311		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Classic hairy cell leukemia	Hairy Cell Leukemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear Cell Sarcoma of Soft Tissue	Sarcoma	BEFREE	15588860, 15917418, 22045652, 22406360, 23796270, 26286452		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	30972290, 31685033		★☆☆☆☆ Found in Text Mining only
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	19096106	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	19156172		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27115320		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	14500346, 15340260, 15342696, 16024606, 17096326, 17293392, 17427169, 18186519, 18435933, 18519771, 18832519, 18846109, 19002263, 19424571, 19582761, 19843849, 19908233, 20008640, 20186005, 20444249, 20501503, 21037082, 21315413, 21423154, 21738611, 22281684, 22393095, 22684223, 22869096, 22898351, 23006938, 23045248, 23251002, 23274581, 23547084, 23792567, 23792568, 23845435, 24025253, 24325952, 24339949, 24500602, 24832158, 24925349, 24964758, 25267307, 25361982, 25367198, 25636897, 25696791, 25884297, 25899003, 25936694, 26160848, 26160882, 26365186, 26471487, 26527776, 26553611, 26872400, 27321184, 27391062, 27770401, 27827301, 28025078, 28067073, 28125730, 28358339, 28623901, 29127628, 29128266, 29167314, 29167892, 29169325, 29281831, 29556349, 29663854, 29790124, 30181415, 30396937, 30579838, 30623363, 30963391, 31083627, 31185985, 31371485, 31545494, 31727009, 31811196, 31842975		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	21423154, 23382536, 23887306, 28533659, 34647903	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	14678966, 14695993, 15150094, 18339877, 18602919, 19700418, 19843849, 22281684, 23572025, 24244575, 24503755, 25624727, 27198570, 27956538, 28623901, 29037218, 30941953, 31811196		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17148775, 18519771		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	18339877, 18767147, 19843849, 19881948, 21457162, 21738740, 22314188, 22376079, 22869096, 23006938, 23469219, 23606169, 23657789, 23792567, 24244575, 24498230, 24832158, 26366557, 26898652, 27198570, 27300552, 28059096, 28358339, 28659148, 29037218, 29193645, 29454261, 31811196, 32083567, 33296098, 34214079, 35773332, 36003386, 37116163, 39333335	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CLINVAR_DG	22281684, 25157968		★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	16879389, 16937524, 18782444, 26910894, 27930579, 28533659, 28953955	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12198537, 12941809, 14639609, 14688025, 14695993, 14734469, 15194222, 15247181, 15340259, 15342696, 15542810, 15702478, 15704157, 15765445, 15782118, 16007118, 16012945, 16015629, 16219636, 16381005, 16403224, 16413100, 16619509, 16804544, 16850502, 16953233, 16988471, 17013898, 17065421, 17086168, 17101316, 17119056, 17195912, 17239930, 17314276, 17393356, 17408908, 17427169, 17440063, 17453358, 17464246, 17474983, 17487504, 17545526, 17566669, 17693665, 17699719, 17924122, 17942460, 18096441, 18098337, 18199160, 18224685, 18339680, 18366060, 18428050, 18435933, 18517279, 18524847, 18556776, 18628094, 18628431, 18718023, 18778891, 18782444, 18806830, 18832519, 18834226, 18992635, 19001320, 19107235, 19127559, 19147861, 19164452, 19190129, 19213871, 19241144, 19289622, 19344998, 19372556, 19412426, 19424639, 19430299, 19474002, 19686742, 19737982, 19738166, 19787768, 19884549, 19908233, 19913317, 19935791, 19949877, 20027224, 20162668, 20197478, 20200438, 20233436, 20300843, 20489114, 20492682, 20507599, 20570909, 20571907, 20587792, 20616015, 20616366, 20627194, 20635392, 20645028, 20651341, 20652941, 20670148, 20696052, 20942929, 21029218, 21102416, 21129611, 21159060, 21161938, 21227396, 21285991, 21383284, 21390154, 21423154, 21424126, 21455633, 21456008, 21457162, 21516079, 21553007, 21557216, 21587258, 21641392, 21646616, 21660972, 21665242, 21681432, 21698197, 21704278, 21742054, 21827707, 21829508, 21900595, 21943394, 21945875, 22006538, 22012135, 22027477, 22043994, 22056657, 22180495, 22210186, 22228154, 22233696, 22260991, 22282467, 22314188, 22361037, 22392911, 22427190, 22430215, 22438407, 22446020, 22448344, 22481281, 22489692, 22496204, 22579930, 22586484, 22594497, 22608338, 22618722, 22654442, 22753589, 22773565, 22786759, 22808230, 22845480, 22899370, 22899730, 22931052, 23033302, 23056577, 23063521, 23110075, 23114745, 23125007, 23158210, 23165447, 23188063, 23211288, 23246082, 23251002, 23278430, 23286373, 23297805, 23319808, 23341177, 23341544, 23354951, 23374602, 23406774, 23462926, 23511557, 23531339, 23534748, 23536897, 23539450, 23549875, 23553055, 23579212, 23594689, 23606169, 23617638, 23650027, 23657789, 23660947, 23665275, 23671647, 23749901, 23755178, 23763264, 23792567, 23792568, 23797718, 23800934, 23836465, 23849768, 23876834, 23878352, 23880961, 23887157, 23887306, 23897252, 23905898, 23962701, 23963522, 23983431, 23992303, 24025523, 24066160, 24073892, 24085553, 24112392, 24161954, 24163374, 24166180, 24242331, 24248543, 24379162, 24440976, 24446739, 24585723, 24594115, 24595598, 24612059, 24626880, 24651849, 24691006, 24722974, 24752710, 24764661, 24764675, 24767862, 24768606, 24806883, 24833563, 24859998, 24861917, 24889488, 24915895, 24918610, 24921639, 24925223, 24928946, 24942334, 25005754, 25009008, 25010701, 25050586, 25069797, 25076244, 25081749, 25119972, 25153715, 25154726, 25164765, 25176643, 25190725, 25216220, 25219500, 25232271, 25239454, 25262986, 25267307, 25268611, 25280751, 25287912, 25341111, 25349306, 25366420, 25367198, 25367952, 25381152, 25432628, 25467940, 25472647, 25500543, 25517872, 25549141, 25557234, 25589621, 25613750, 25624727, 25632202, 25636897, 25639985, 25673558, 25673644, 25688918, 25701956, 25708741, 25710585, 25714871, 25734426, 25784606, 25813020, 25815786, 25840921, 25847954, 25854919, 25862899, 25872148, 25954997, 25973534, 25975986, 25976417, 26001389, 26018692, 26033452, 26063725, 26084290, 26096739, 26106602, 26145760, 26160848, 26172302, 26208524, 26216840, 26272063, 26296467, 26314551, 26351322, 26352110, 26358176, 26376292, 26392102, 26404261, 26438153, 26446234, 26460303, 26469098, 26476272, 26496026, 26496897, 26500331, 26510091, 26523369, 26530529, 26537294, 26541605, 26553291, 26588428, 26615134, 26616508, 26681025, 26691448, 26750638, 26762843, 26775732, 26787892, 26802026, 26810733, 26871294, 26892442, 26910894, 26916115, 27009213, 27026089, 27033063, 27034263, 27036313, 27039744, 27053844, 27070934, 27082577, 27102074, 27138801, 27160084, 27167335, 27197524, 27198569, 27203373, 27220764, 27221876, 27258561, 27305845, 27312529, 27325282, 27329244, 27340238, 27345584, 27354468, 27355330, 27376251, 27404270, 27438990, 27461218, 27497007, 27562229, 27569082, 27624806, 27661107, 27672042, 27737711, 27765849, 27770401, 27813511, 27825133, 27914130, 27915339, 27943267, 27993800, 27999210, 28000889, 28002807, 28074351, 28097409, 28152546, 28182330, 28184012, 28188432, 28188750, 28210747, 28214977, 28218473, 28230016, 28249812, 28267766, 28365952, 28378457, 28405764, 28407239, 28415818, 28418176, 28429715, 28486044, 28501592, 28507204, 28523274, 28542846, 28576751, 28576843, 28583095, 28597080, 28611337, 28617917, 28623901, 28625649, 28632725, 28646840, 28654634, 28659148, 28708103, 28775144, 28783719, 28877066, 28884045, 28899979, 28921484, 28921583, 28931069, 28969673, 29027537, 29045527, 29052598, 29100436, 29115941, 29127628, 29128266, 29137623, 29167314, 29193645, 29233910, 29254887, 29281831, 29304767, 29326440, 29335867, 29374690, 29380640, 29409465, 29431699, 29456739, 29470838, 29483217, 29518181, 29534162, 29540830, 29570172, 29610287, 29645364, 29660527, 29662660, 29663854, 29666387, 29675807, 29694444, 29705968, 29708446, 29755114, 29788743, 29796712, 29879227, 29907857, 29915291, 29943356, 29959022, 29970458, 29988110, 30001238, 30009773, 30042065, 30071442, 30087414, 30100092, 30106444, 30122982, 30145148, 30166308, 30188916, 30197280, 30333883, 30335711, 30353166, 30388256, 30394984, 30412858, 30427914, 30462160, 30463788, 30478887, 30488863, 30575961, 30592501, 30613980, 30623363, 30623365, 30638691, 30643016, 30645729, 30658510, 30679085, 30711966, 30716341, 30719102, 30723297, 30738693, 30782542, 30792536, 30811471, 30826660, 30833748, 30840593, 30842178, 30854056, 30854646, 30858928, 30883505, 30919552, 30963570, 31094930, 31096110, 31117039, 31158302, 31162857, 31164152, 31185985, 31199922, 31200767, 31208050, 31227516, 31266962, 31282116, 31290252, 31324877, 31340858, 31351087, 31442917, 31475312, 31519714, 31589789, 31609810, 31661924, 31678170, 31690257, 31699039, 31704811, 31704871, 31711486, 31717544, 31727009, 31743129, 31759368, 31773354, 31848189		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG	12198537, 21917714, 23263490, 24455489		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	18718023, 25280562, 25701956, 27222248		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Mucinous Adenocarcinoma	Colorectal Cancer	BEFREE	28422723		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	12068308, 18186519, 19001320, 19363522, 19537845, 19794125, 20350999, 20413299, 20619739, 20857202, 21129611, 21163703, 21190184, 21343559, 21426297, 21716161, 22180495, 22281684, 22310681, 22448344, 22535154, 22608338, 23251002, 23325582, 23549875, 23812671, 23845441, 24107445, 24163374, 24594804, 25157968, 25989278, 26619011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12198537, 14639609, 14734469, 15489648, 15765445, 16804544, 16918136, 16953233, 17119056, 17195912, 17393356, 17440063, 17663506, 17699719, 17924122, 18098337, 18435933, 18517279, 18628431, 18718023, 18757341, 18778891, 18806830, 18834226, 18992635, 19001320		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	12438234, 12670889, 14668801, 14678966, 15150094, 15729718, 16015629, 16403224, 18602919, 19213871, 19861408, 20027224, 20049644, 22167334, 22228154, 22949379, 23359345, 23536897, 23665275, 23773459, 23792451, 24100870, 24752710, 25239454, 25517872, 25975986, 26341689, 27302833, 28153858, 28230016, 29127628, 29660527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15247181, 15342696, 15729718, 15790700, 16015629, 16403224, 16988471, 17065421, 17086168, 17239930, 17251336, 17393356, 17474983, 17663506, 17923875, 18003927, 18366060, 18422752, 18435933, 18451217, 18458053, 18517279, 18519771, 18556776, 18592002, 18718023, 18782444, 18832519, 18834226, 19001320, 19002263, 19018265, 19087308, 19127559, 19164452, 19190129, 19213871, 19241144, 19344998, 19372556, 19404918, 19547661, 19584170, 19603018, 19603024, 19737982, 19806185, 19843849, 19881948, 19913317, 19935791, 20027224, 20051945, 20098682, 20200438, 20233436, 20233444, 20444249, 20485284, 20492682, 20496269, 20501503, 20587792, 20616015, 20616366, 20652941, 20679909, 20682701, 20924129, 21037082, 21098728, 21102416, 21103049, 21216929, 21227391, 21227396, 21283802, 21285991, 21390154, 21423154, 21456008, 21483104, 21516079, 21587258, 21641392, 21698197, 21704278, 21708284, 21712828, 21738611, 21738740, 21742054, 21807639, 21901162, 21943101, 21943394, 22039425, 22147942, 22252751, 22314188, 22427190, 22481281, 22569004, 22586484, 22665543, 22684223, 22763439, 22798500, 22899730, 22909976, 22911782, 22931052, 22949379, 23041829, 23045248, 23052130, 23110075, 23112547, 23125007, 23165447, 23197490, 23233484, 23324583, 23374602, 23401454, 23425390, 23446022, 23462926, 23499205, 23511557, 23531339, 23534748, 23536897, 23539450, 23548132, 23606169, 23617638, 23657789, 23660947, 23665275, 23671647, 23755178, 23773459, 23792567, 23792568, 23797718, 23800934, 23808402, 23845435, 23878352, 23930206, 23992303, 23996432, 24006859, 24025253, 24066160, 24073892, 24107445, 24157612, 24166180, 24184227, 24244575, 24339949, 24367680, 24379162, 24434431, 24500024, 24500602, 24553387, 24651849, 24653752, 24659889, 24737664, 24755613, 24764675, 24859797, 24859998, 24870621, 24885690, 24918610, 24921639, 24925349, 25005754, 25010701, 25057166, 25069797, 25081749, 25083765, 25139339, 25153715, 25164765, 25183481, 25232271, 25250560, 25267307, 25280443, 25280751, 25305506, 25309914, 25318602, 25337237, 25349306, 25366420, 25367198, 25379018, 25496513, 25517872, 25557234, 25605225, 25613750, 25617745, 25624727, 25632202, 25636897, 25663779, 25673644, 25688918, 25714871, 25784606, 25794514, 25847954, 25851630, 25884297, 25886136, 25899003, 25902072, 25929517, 25936694, 25942399, 25943333, 25954997, 25973534, 25994739, 26038390, 26042813, 26077004, 26084290, 26106602, 26116215, 26121270, 26153495, 26160882, 26168967, 26220423, 26226847, 26247523, 26287849, 26314551, 26322950, 26325103, 26351322, 26361422, 26375816, 26460303, 26467662, 26486455, 26490308, 26496026, 26498038, 26510091, 26517354, 26530529, 26553611, 26561209, 26575603, 26681025, 26691448, 26752307, 26762843, 26787892, 26802026, 26883113, 26909603, 26910894, 26959608, 26989027, 26991109, 26991344, 27022117, 27026680, 27033063, 27036313, 27039744, 27048246, 27050078, 27082577, 27131021, 27145369, 27155048, 27198569, 27203373, 27246726, 27261210, 27300552, 27312529, 27314237, 27340238, 27350555, 27358379, 27384156, 27391062, 27404452, 27430658, 27461218, 27520705, 27526306, 27540971, 27562229, 27661107, 27737711, 27764839, 27780856, 27813511, 27863403, 27914130, 27956538, 27993800, 28002807, 28006055, 28007036, 28031175, 28040692, 28068936, 28082821, 28125730, 28178681, 28188432, 28222664, 28252533, 28268248, 28363909, 28378457, 28400427, 28453697, 28470797, 28486044, 28507204, 28513830, 28523274, 28533659, 28542846, 28583095, 28595259, 28617917, 28618197, 28618430, 28623901, 28625649, 28626084, 28632725, 28654634, 28655712, 28659148, 28669023, 28899979, 28904173, 28911067, 28911069, 28926134, 28931069, 28932083, 28936923, 28972961, 29027537, 29037218, 29045518, 29052598, 29096990, 29115941, 29137623, 29167892, 29169325, 29222441, 29254887, 29301589, 29370781, 29483217, 29518181, 29534162, 29556349, 29632055, 29645364, 29663854, 29666172, 29666387, 29674439, 29694444, 29707525, 29718453, 29784668, 29872151, 29873882, 29879227, 29915291, 29945573, 29959022, 29970458, 29976257, 29988110, 30018674, 30036146, 30042065, 30085422, 30120161, 30188916, 30205948, 30307354, 30339194, 30412858, 30427914, 30476968, 30478887, 30481508, 30488863, 30562355, 30643016, 30689692, 30723297, 30744692, 30792536, 30809081, 30811471, 30826660, 30840064, 30854932, 30892987, 30941953, 30963391, 31036005, 31059199, 31062740, 31068650, 31070306, 31152084, 31160710, 31162857, 31185985, 31199922, 31200767, 31208050, 31235483, 31243121, 31265477, 31296182, 31324877, 31340858, 31350822, 31352904, 31386297, 31450901, 31539295, 31545494, 31548566, 31571052, 31596728, 31673240, 31699039, 31711486, 31719050, 31727009, 31782259, 31798981, 31802830, 31811196, 31859449, 31876604, 31882511, 31897467, 31911540, 31924107, 31940389, 31951562, 31952366, 31974819, 32047001, 32066410, 32087721, 32088204, 32149725, 32184228, 32209656, 32225169, 32236609, 32270478, 32358694, 32384877, 32408300, 32449003, 32481270, 32525522, 32571791, 32572821, 32628708, 32656857, 32661327, 32667108, 32669268, 32726404, 32755147, 32810930, 32858795, 32867715, 32923312, 32961317, 33004975, 33028695, 33031197, 33066758, 33076847, 33087330, 33204026, 33208845, 33276219, 33296098, 33300106, 33356422, 33380672, 33385518, 33413175, 33414136, 33429770, 33433598, 33442661, 33446148, 33464119, 33465286, 33484192, 33503393, 33507915, 33551068, 33631043, 33669856, 33726687, 33778733, 33795873, 33836681, 33846524, 33917026, 33934428, 33962575, 33970400, 33979337, 33989908, 34015890, 34024817, 34034807, 34042312, 34098908, 34168268, 34201061, 34233735, 34269315, 34288281, 34315821, 34377935, 34397043, 34403504, 34407800, 34409732, 34409853, 34489309, 34572480, 34610014, 34639107, 34657620, 34671754, 34707053, 34830244, 34843402, 34851763, 34871263, 34877621, 34887523, 34946284, 35053185, 35073481, 35143042, 35173208, 35177765, 35235413, 35237889, 35249349, 35254413, 35274712, 35277460, 35280113, 35321550, 35383926, 35435290, 35454158, 35461290, 35474548, 35475677, 35503983, 35525184, 35544729, 35567913, 35584350, 35610367, 35624529, 35641204, 35649231, 35653981, 35654691, 35666229, 35696748, 35761395, 35765262, 35768447, 35785488, 35881546, 35902772, 35907983, 35975176, 36003386, 36097219, 36117191, 36136880, 36149298, 36191562, 36191968, 36202008, 36202073, 36221415, 36282887, 36295658, 36307775, 36319846, 36343387, 36352809, 36355316, 36368253, 36380064, 36410812, 36444585, 36475784, 36527039, 36564280, 36583506, 36591710, 36638198, 36653241, 36656585, 36691407, 36700211, 36702949, 36723384, 36758042, 36759733, 36763936, 36779536, 36811382, 36831331, 36849394, 36856908, 36862900, 36902296, 36912150, 36921693, 36930789, 36939385, 36961816, 36963484, 37023721, 37039257, 37097008, 37099199, 37107652, 37126990, 37146911, 37164276, 37176143, 37182332, 37195006, 37239344, 37240418, 37269335, 37316651, 37343204, 37344790, 37352472, 37358854, 37369457, 37374338, 37400750, 37558749, 37605122, 37620872, 37628868, 37629086, 37686416, 37713993, 37737217, 37746995, 37749297, 37775043, 37775523, 37775918, 37791907, 37815847, 37837178, 37884620, 37890492, 37924647, 37942534, 37972012, 38010835, 38019223, 38040818, 38138211, 38139338, 38185290, 38191609, 38217945, 38256402, 38372057, 38553360, 39173562, 39207001, 39255538, 39300378, 39333321, 39342926, 39420942, 39587554, 40107157, 40149427, 40163685, 40187357	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	18718023, 25280562, 25701956, 27222248		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	17065421, 18556776, 19213871, 21768580, 22120844, 22274583, 22481281, 23797718, 24157612, 24196786, 25005754, 25153715, 25280751, 25557234, 27152634, 28059100, 29472252, 29596542, 29645364, 30543514, 31471937, 32661327, 32857459, 33148693, 34998373, 35768447, 37023721, 39344689	Associate	★☆☆☆☆ Found in Text Mining only
Complement Component 7 Deficiency	Complement component deficiency	Pubtator	32384877	Associate	★☆☆☆☆ Found in Text Mining only
Confusion	Confusion	Pubtator	27283860	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	29461977, 30544177, 31759151		★☆☆☆☆ Found in Text Mining only
Congenital bronchogenic cyst	Congenital Bronchogenic Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	17199440, 22163003, 22558328, 23535008		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	21051183		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28973166		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	28525297		★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	27834723, 35556126	Associate	★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital melanocytic nevus	Congenital Melanocytic Nevus	BEFREE	17301836, 21430505, 24646799, 25490715, 29316280, 29999207		★☆☆☆☆ Found in Text Mining only
Congenital Mesoblastic Nephroma	Congenital Mesoblastic Nephroma	BEFREE	21430505, 24129063, 25490715, 29915264, 30359577		★☆☆☆☆ Found in Text Mining only
Congenital myasthenic syndrome ib	Congenital myasthenic syndrome	Pubtator	29518181	Associate	★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital strabismus	Congenital Strabismus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital thrombotic disease due to Protein C deficiency	Congenital thrombotic thrombocytopenic purpura	Pubtator	21751431	Associate	★☆☆☆☆ Found in Text Mining only
Conjunctival Diseases	Conjunctival disease	Pubtator	29332123	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25602792, 26333016, 30200918		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31141710		★☆☆☆☆ Found in Text Mining only
Costello Syndrome	Costello syndrome	Pubtator	17704260	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Costello syndrome (disorder)	Costello syndrome	CLINGEN_DG	16804887		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	BEFREE	17567882, 17704260, 21784453, 26855057		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	CTD_human_DG	17703371		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	ORPHANET_DG	24413733		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniopharyngioma	Craniopharyngioma	CTD_human_DG	24413733		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniopharyngioma	Craniopharyngioma	BEFREE	24413733, 26498373, 26927026, 27258775, 27903124, 28984520, 29396598, 29546640, 29700680, 29952427, 30187175, 30481321, 30779850, 31678973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniopharyngioma	Craniopharyngioma	Pubtator	24413733, 25412847, 26498373, 26927026, 28425764, 28486603, 28918496, 29509940, 30069716, 30616515, 31314136, 33420213, 33967180, 34922552, 35707464, 37683921, 39976897, 40128998, 40721446	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniopharyngioma	Craniopharyngioma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniopharyngioma, Child	Craniopharyngioma	CTD_human_DG	24413733		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28597080		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	29752777	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	26600396		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	14501284, 14522897, 15060100, 15179189, 15252839, 15277467, 15578519, 15588860, 15928660, 16049985, 16098042, 16687919, 16899595, 17404088, 18227705, 19033861, 19037234, 19039588, 19383313, 19383316, 19493000, 19571821, 20576522, 21166657, 21324100, 21670085, 21750866, 22020039, 23096702, 23159593, 23174497, 23211290, 23248257, 23948972, 24071017, 24388723, 24471189, 24535907, 24574369, 24602025, 24697775, 24749938, 24858900, 24922189, 25036880, 25048604, 25174976, 25211166, 25361077, 25607474, 25888143, 25976231, 26055532, 26116372, 26141748, 26339422, 26848795, 26980024, 27138260, 27145091, 27641727, 27650277, 27666765, 27790766, 28075446, 28252478, 28325255, 28485171, 28797232, 28858076, 29061773, 29084636, 29307636, 29310328, 29433557, 29929490, 30205280, 30347273, 30373548, 30429474, 30681641, 30925905, 30959471, 30997532, 31200439, 31362075, 31391014, 31398831, 31416844, 31434983, 31464610, 31514399, 31753111		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	26512791, 28557366		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	25174976, 28340684		★☆☆☆☆ Found in Text Mining only
Dermoid Cyst	Dermoid Cyst	BEFREE	25039399		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30355600	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	31125963		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus Neurogenic	Neurogenic diabetes insipidus	Pubtator	27760550, 34459688	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	28869590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	28869590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diarrhea	Diarrhea	Pubtator	22554099, 34331515, 35654691	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	22912351	Associate	★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	22820187	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated thyroid carcinoma	Thyroid Carcinoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	17989125, 19356676, 19898969, 22535974, 24405857, 24468978, 24777145, 24992171, 25121551, 25285888, 25814520, 26969876, 26971368, 27387551, 27689252, 29144823, 30323976, 30717896, 31093278, 31586312		★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	19373855, 26375727, 26404554		★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	22575864		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	20730472	Associate	★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	30936351	Associate	★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	31095038		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	27682157		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	27108388, 27682157		★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	26152183	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysembryoplastic neuroepithelial tumor	Dysembryoplastic Neuroepithelial Tumor	BEFREE	23442159, 24767714, 25040262, 25346165, 26920151, 27792249		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16439621, 16474404, 16523510, 16825433, 18039235, 18413255, 19206169, 23875798, 4386970, 5771505		★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	14501284, 14984580, 15824163, 16799476, 20233623, 23906414, 25607474		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	20824047, 34614142, 35949061	Associate	★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	Pubtator	34077954	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	34227206	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	21862832		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	23370429		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	15118616, 15723290, 16144912, 16256179, 16619251, 17388789, 19424571, 20591910, 22955108, 23370429, 23880961, 25341111, 27898420		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	28951454, 30121391	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	17170014, 17388789, 27898420	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	17170014		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	15761464, 22276910, 22305241, 29286077		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	29286077	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	30275021		★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	24920534	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	31673897		★☆☆☆☆ Found in Text Mining only
Epidermal Nevus	Epidermal nevus	Pubtator	25857817, 37716647	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa with pyloric atresia	Epidermolysis bullosa	Pubtator	20044755, 26083571	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	29701169	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	25937573		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	21383153, 25937573, 27984807, 28667867, 28673671		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	27984807, 34573299, 36226386, 36307486	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	23096133	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	31581174	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	18794094, 19638206, 23965232, 25370471		★☆☆☆☆ Found in Text Mining only
Epithelioid and spindle cell nevus	Spitz nevus	LHGDN	15330192		★☆☆☆☆ Found in Text Mining only
Epithelioid and spindle cell nevus	Spitz nevus	BEFREE	15330192, 29417221		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	15581971, 24244575		★☆☆☆☆ Found in Text Mining only
Erdheim-Chester Disease	Erdheim-Chester Disease	BEFREE	22879539, 24495477, 24531980, 25003820, 25324352, 25422482, 25735579, 25744785, 26110571, 26454140, 26637773, 26858028, 26882062, 27863426, 28099231, 28182116, 28455460, 28680751, 29133287, 29188284, 30120160, 31015311, 31538800, 31639332		★☆☆☆☆ Found in Text Mining only
Erdheim-Chester Disease	Erdheim-Chester Disease	CGI_DG			★☆☆☆☆ Found in Text Mining only
Erythema Nodosum	Erythema nodosum	BEFREE	25752368		★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	BEFREE	28873491		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	15796777, 22039425, 22870241	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22870241, 33054840, 33880577	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	22870241	Associate	★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	21283802, 24508103, 31151904, 33646525, 37358854	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	26189129, 30908307		★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye Neoplasms	BEFREE	12917419		★☆☆☆☆ Found in Text Mining only
Factor X Deficiency	Factor X Deficiency	BEFREE	30376464		★☆☆☆☆ Found in Text Mining only
Factor XII Deficiency	Factor XII Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Colorectal Cancer Type X	Colorectal Cancer	BEFREE	23278430, 25381643		★☆☆☆☆ Found in Text Mining only
Familial Hypertrophic Cardiomyopathy Type 4	Hypertrophic cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	31321520		★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Thyroid cancer	Pubtator	26530882	Associate	★☆☆☆☆ Found in Text Mining only
familial non-medullary thyroid cancer	Thyroid cancer	BEFREE	21826673		★☆☆☆☆ Found in Text Mining only
familial non-medullary thyroid cancer	Thyroid cancer	GENOMICS_ENGLAND_DG	26530882		★☆☆☆☆ Found in Text Mining only
Familial Nonmedullary Thyroid Cancer	Thyroid cancer	BEFREE	16117812		★☆☆☆☆ Found in Text Mining only
Familial Nonmedullary Thyroid Cancer	Thyroid cancer	CTD_human_DG	27222248, 28030816		★☆☆☆☆ Found in Text Mining only
Female Pseudo-Turner Syndrome	Noonan syndrome	CTD_human_DG	17703371		★☆☆☆☆ Found in Text Mining only
Female Urogenital Diseases	Female infertility	Pubtator	30028779	Associate	★☆☆☆☆ Found in Text Mining only
Fibrillary Astrocytoma	Fibrillary Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Fibrillary Astrocytoma	Fibrillary Astrocytoma	BEFREE	24767714		★☆☆☆☆ Found in Text Mining only
fibroma	Fibroma	BEFREE	24993163		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	27062580		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	14500344, 28989016, 29434880		★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	25937573		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	40282380	Associate	★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	12881714, 12907632, 16452550, 17714762, 19269016, 20526288, 21088998, 25837167, 25923053, 26422023, 26749005, 28679352, 28975450, 29582677, 30645670		★☆☆☆☆ Found in Text Mining only
Follicular Cyst	Follicular cyst	Pubtator	26020381, 31821746	Associate	★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	15095090, 16219715, 17054470, 17387744, 17638058, 17717450, 20578891, 20718682, 20959410, 21739166, 22136270, 22895275, 24295088, 24617711, 24908232, 25120313, 26422023, 28710706, 31417495		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	21307665, 27745798		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	38092180	Associate	★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	21274720, 22082607, 22892521, 23435618, 23442159, 23552385, 23822828, 23941441, 24238153, 24792487, 25015869, 25524464, 25937573, 26115961, 26264609, 26432496, 26826417, 27015517, 27389560, 27671879, 27792249, 27799506, 27860162, 27984673, 28069802, 28293477, 28395087, 28901965, 28986151, 29502353, 29880043, 29902580, 30013630, 30224756, 30984614, 31147230, 31147232, 31667545		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ganglioglioma	Ganglioglioma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	34436699	Inhibit	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	40163685	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CLINVAR_DG	12068308, 19561230, 20818844, 21639808, 22608338, 23470635		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	LHGDN	18615679		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	18615679, 19561230, 19614767, 20023270, 21906875, 22282465, 22948025, 23343956, 23470635, 24117705, 24531699, 25182956, 25239601, 25659413, 25885906, 25970686, 26486743, 27097112, 27317811, 27390349, 27427238, 27864688, 28034324, 28159677, 28820749, 29113157, 29206199, 29719410, 30179868, 30707374		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	18615679, 21663639, 22948025, 23470635, 25885906, 27097112, 27974047, 29523662, 31792037, 32236636, 34398495, 35904169, 37454137	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CGI_DG			★☆☆☆☆ Found in Text Mining only
Gemistocytic astrocytoma	Gemistocytic Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	32143579	Associate	★☆☆☆☆ Found in Text Mining only
Genital Neoplasms, Female	Genital Neoplasms, Female	BEFREE	29851866		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	16354586, 19289622, 22147429, 23374840, 24812411, 27153176		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	BEFREE	23552385, 24345274, 25885250, 27253461		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	22725657		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15517309, 15791479, 19082503, 20569675, 21479234, 22763439, 23552385, 23887589, 24725538, 24894018, 25346165, 25581727, 25885250, 25981859, 26375727, 26404554, 26667174, 27350555, 27792249, 29039591, 29105198, 29744614, 30013630, 30496796, 31217909, 31258848, 31345255		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22385786, 24127995, 24354918, 24725538, 25256166, 25581727, 25885250, 26238627, 26452024, 27350555, 27579614, 28984141, 28990704, 29039591, 29105198, 29621181, 32466770, 32687679, 33009979, 33313992, 33646525, 33980169, 34625582, 35121903, 35130969, 35362874, 37140883, 38219188	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	18472967, 21479234, 22763439, 23552385, 23887589, 24725538, 24894018, 25346165, 25981859, 26404554, 26667174, 29039591, 29744614, 30013630, 30496796, 31217909, 31258848, 31345255		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	15791479, 16951188, 22038996, 23152448, 23592488, 23594689, 23612919, 23624918, 23822828, 24721513, 24857351, 25346165, 25581727, 26023796, 26384810, 26445861, 26681766, 27350555, 27494648, 27611946, 27792249, 27860162, 28062673, 28271343, 28534272, 28727518, 28901965, 30181170, 31254135, 31391125, 31466300, 31748891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	19924296, 20156809, 21884820, 22157620, 22492957, 22568401, 22591444, 22821383, 22892521, 23429363, 23592488, 24767714, 25040262, 25581727, 25618114, 25667294, 25885250, 26115961, 26314551, 26681766, 27350555, 27529619, 27543966, 27611946, 27984673, 28293477, 28575485, 28836232, 28984141, 28990704, 29039591, 29621181, 29679497, 30253793, 30558563, 31038238, 31151904, 31263031, 31391125, 31630459, 31748891, 32242226, 33009979, 33574103, 33772213, 33820494, 33980169, 34433654, 34525976, 35210278, 35361262, 35362874, 35397478, 35484611, 35863783, 36007944, 36194351, 36319795, 36375115, 38066305, 40355925	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CTD_human_DG	23583981		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
gliosarcoma	Gliosarcoma	LHGDN	16373964		★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	16373964, 28395087, 31759151		★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	27350555, 34504233, 35381788	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	16439621, 16474404, 18042262, 19206169		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glomerulonephritis	Glomerulonephritis	BEFREE	28640105		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease IIIC	Glycogen storage disease	Pubtator	28475671, 31663466	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	27350555, 37071871	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type VI	Glycogen Storage Disease	BEFREE	30462564		★☆☆☆☆ Found in Text Mining only
Grade I Astrocytoma	Grade I Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	32131760	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Slack Skin	Granulomatous Slack Skin	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	34459688, 37697378	Associate	★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	ORPHANET_DG	21663470, 24241536		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	21663470, 21910720, 22028477, 22072557, 22133769, 22210875, 22212971, 22246856, 22313586, 22369373, 22531170, 22541613, 22706871, 23161722, 23211289, 23349307, 23518796, 23594689, 23892906, 24041576, 24277451, 24433452, 24495477, 24503706, 24652320, 24689848, 24789721, 24871129, 24994538, 25034364, 25120816, 25480661, 25511147, 25511150, 25563425, 25583765, 25700421, 25938346, 25960206, 26049757, 26071465, 26115047, 26154707, 26352686, 26614894, 26614903, 26871591, 27121112, 27554081, 27910030, 28146266, 28297625, 29110361, 29238890, 29702524, 30043333, 30197362, 30680261, 30782032, 31187521, 31282776, 31354304, 31538423, 31628266		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Hairy cell leukemia variant	Hairy Cell Leukemia	BEFREE	22706871, 23349307, 29238890		★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	25704541		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	16143028, 17308360, 17900235, 18426810, 19014278, 19926583, 20012784, 21909080, 22457234, 23263826, 23469895, 23496275, 23775008, 25213729, 25312294, 26041461, 26598713, 26871894, 26944586, 28454296, 28687736, 29541194, 30666518, 31497359		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	22457234, 23687957, 28687736, 29316976, 30666518, 30916170, 33879712, 34256769, 34659127, 37519275, 40269951	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	31781502		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	20237991, 23398044, 25589618, 29772524, 31277584	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	BEFREE	31781502		★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	32011515, 34969785	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24812130, 26784941	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	26784941		★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	26440310, 28796396		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	26440310, 31805975	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	28253394	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	22133769, 23088640, 24495477, 25450274		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	32918774	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	27283860, 34857025, 35362874, 40033809	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	34909843	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	24717435		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	38096472	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	BEFREE	28224235		★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	20417091, 23878352		★☆☆☆☆ Found in Text Mining only
Hereditary Melanoma	Hereditary cutaneous melanoma	BEFREE	12619120, 12794760, 15824163		★☆☆☆☆ Found in Text Mining only
Hereditary Motor And Sensory Neuropathy Type IIC	Hereditary motor and sensory neuropathies	Pubtator	37665297	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	14734469, 15194222, 15340260, 15342696, 15765445, 15782118, 16007118, 17065421, 17119056, 17204026, 17312306, 17545526, 17566669, 17942460, 18096441, 18428050, 18556776, 19072991, 19213871, 19241144, 19424639, 19949877, 20670148, 20703819, 21768580, 22120844, 22274583, 22306203, 23278430, 23553055, 23797718, 23897252, 23963522, 24034859, 24184227, 24196786, 24767862, 25076244, 25341111, 25557234, 25602793, 25696791, 25701956, 25710585, 26096739, 26537294, 27302833, 27438990, 27443823, 28059100, 28608265, 28664346, 28877066, 29341452, 29596542, 29645364, 30166308, 30592501, 30723092, 30851981, 31471937, 31609810		★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	BEFREE	16015629		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15782118		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	15793287	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	18946221		★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	22643351		★☆☆☆☆ Found in Text Mining only
Histiocytosis	Histiocytosis	BEFREE	22879539, 23449613, 25003820, 26566875, 26782803, 27101528, 28194436, 28854169, 30609054, 31639332, 31685033, 31768065		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	20519626, 22506009, 22859608, 22879539, 22996177, 23258922, 23449613, 24471909, 24625419, 24638167, 24652991, 24703101, 24720374, 24894769, 24982505, 25031736, 25118810, 25202140, 25324352, 25351766, 25422482, 25899310, 26110571, 26339366, 26461146, 26466952, 26637773, 26858028, 26980021, 27041734, 27076591, 27094161, 27314817, 27382093, 27729324, 28084334, 28182116, 28219109, 28421232, 28582647, 28679432, 28748614, 29107340, 29188284, 29194093, 29271794, 29649018, 29768711, 29774135, 30216522, 30265230, 30281871, 30795755, 30923995, 31006900, 31317311, 31441596, 31527903, 31666812, 31685033		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	ORPHANET_DG	22996177		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	CGI_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	30653166	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	30653166		★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	23887161, 25602792		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	35863783	Stimulate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	35863783	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	28829677	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	22726224, 28211633, 30501438		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis pilaris	Hyperkeratosis Pilaris	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	37543207	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	24879726	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	17273161	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplastic polyposis syndrome	Hyperplastic Polyposis Syndrome	BEFREE	23376323		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	31276506	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	37318592, 39342349	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31196660		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	24879726	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG	16439621, 16474404		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	26784941, 27569062		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	26784941, 27569062		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	27569062	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalcemia	Hypocalcemia	Pubtator	40033809	Associate	★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	19700418		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG	16439621, 16474404		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	35606856	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	18426810, 21512141		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	30069716, 32995956	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	15551306		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29650750		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	19156172, 29382817		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	17914558		★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	20393746		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	29225069		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CLINVAR_DG	16439621, 16474404		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	19416762		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	40282380	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intestinal Cancer	Intestinal Cancer	BEFREE	29145034		★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	26684240	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	15793287, 27430658	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	31891627	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Astrocytoma	Intracranial Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Intracranial Hypertension	Intracranial hypertension	Pubtator	35812382	Associate	★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	14724583, 22912351		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	24139215, 24309328, 25704541, 26405193, 27627051, 29698701, 30908307		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	30562218		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	25862899		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	18024410, 24446311		★☆☆☆☆ Found in Text Mining only
Juvenile Pilocytic Astrocytoma	Astrocytoma	BEFREE	20806365		★☆☆☆☆ Found in Text Mining only
Juvenile Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	30018450		★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	29103753, 29272070		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	Pubtator	17159915, 22609219, 26319365	Associate	★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	BEFREE	17159915, 22726224, 24112647, 26319365		★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	BEFREE	30474875		★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	30320628		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	22727996	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28640105		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	20975100, 22931913, 24737664, 25051202	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31196660		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	21813464, 24432405, 25602792, 27769870		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	CTD_human_DG	21813464		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	25602792	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Langerhans cell histiocytosis	Langerhans Cell Histiocytosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	19206169	Associate	★☆☆☆☆ Found in Text Mining only
Lentigo maligna melanoma	Lentigo maligna melanoma	BEFREE	18227705, 25544760		★☆☆☆☆ Found in Text Mining only
Lentigo maligna melanoma	Lentigo maligna melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	CLINGEN_DG	19206169, 19416762, 22465605, 23875798, 24775816		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEOPARD Syndrome	LEOPARD Syndrome	GENOMICS_ENGLAND_DG	19206169, 21396583		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEOPARD Syndrome	Leopard syndrome	Pubtator	19206169, 29084544	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEOPARD Syndrome	LEOPARD Syndrome	BEFREE	19416762, 21784453, 25423878, 27484170, 29084544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEOPARD Syndrome	LEOPARD Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leopard Syndrome 1	LEOPARD Syndrome	GENOMICS_ENGLAND_DG	19416762		★☆☆☆☆ Found in Text Mining only
LEOPARD SYNDROME 3	LEOPARD Syndrome	GENOMICS_ENGLAND_DG	16372351, 19206169, 21396583, 23875798		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEOPARD SYNDROME 3	LEOPARD Syndrome	UNIPROT_DG	19206169		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEOPARD SYNDROME 3	LEOPARD Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEOPARD SYNDROME 3	LEOPARD Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
leukemia	Leukemia	CLINVAR_DG	16474404, 18042262, 19206169		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	17483702, 22028477, 24589925, 28816792	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17483702, 21663470, 22562245, 24433452, 24589925, 24717435, 24795008, 30043333, 7535416		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	21663470, 21910720, 22028477, 22072557, 22133769, 22210875, 22212971, 22331186, 22706871, 23313362, 23347903, 23349307, 23971860, 24277451, 24433452, 24497953, 24789721, 24994538, 25120816, 25480661, 25583765, 25700421, 26027995, 26065650, 26145173, 26352686, 26776205, 26871591, 26941398, 28512190, 28801450, 29110361, 30197362, 30723113, 31077558, 32040482, 32132867, 33190264, 33932027, 34570179, 34653277, 34710243, 35476232, 35579105, 36108341, 36414341, 37182332, 37530550, 38025907, 38264797, 38440808	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23971860, 24446311, 26941398, 27637326, 30936351, 39273530	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	24446311, 30936351	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16281072, 16585161, 16990778, 24446311, 28765039		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	24446311		★☆☆☆☆ Found in Text Mining only
Leukemoid Reaction	Leukemoid Reaction	BEFREE	25576527		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	30043333		★☆☆☆☆ Found in Text Mining only
Lichenoid Eruptions	Lichenoid Eruptions	BEFREE	28224235		★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	BEFREE	10639725, 10987085, 20460380, 9642272		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	17767136		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipogranuloma	Lipogranuloma	BEFREE	26454140, 31639332		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	18413802		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12692057, 22190283, 22258409, 23295441, 26758762, 27388325, 28358339, 30547202		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	27222248		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	34797941	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	12692057	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	BEFREE	12692057, 15592514, 25549141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	CTD_human_DG	17514646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	22744255		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	22744255, 25198510, 26102513, 27076591, 31766881, 36083130, 37364156, 39420942	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	15625016, 25096573, 26028035, 28783725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	16376942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	19010912, 21483012, 22649091, 22689099, 22773810, 23817662, 24236184, 24297085, 24550319, 24743704, 25273224, 25436800, 25706985, 25894373, 25985019, 26102513, 26200454, 26498038, 26916442, 28012356, 28145866, 28584208, 28625649, 29516752, 29723688, 30485130, 30598499, 30831205, 31662533, 32131760, 32756609, 32898185, 33037234, 33229534, 33602172, 33706781, 33872472, 34433708, 34648945, 34887263, 34962076, 34963703, 35709927, 35900560, 37009714, 37616543, 37999148, 38109210, 38307867	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUSCAN-LUMISH SYNDROME	LUSCAN-LUMISH SYNDROME	BEFREE	30575961		★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17060774, 17685465, 17717450, 17972530, 18676742, 19152441, 19414674, 21456008, 22314188, 22431868, 22471242, 22481281, 22524468, 22681706, 22918165, 22973979, 23062653, 23132792, 24559116, 24863948, 25337709, 25755776, 26181555, 26258321, 26487287, 26950846, 27037835, 27387551, 27410688, 27459529, 27689252, 27713420, 27936049, 28188432, 28281551, 28625649, 28787433, 29037218, 29070763, 29901149, 30200646, 30209893, 30254191, 30635590, 30903583, 31135058, 31223037, 31300059, 31758408, 31994851, 32083130, 32315324, 32593310, 33198784, 33296098, 33912138, 33984673, 34256769, 34273152, 34307677, 34319022, 34742355, 34851044, 35123502, 35197932, 35246262, 35473554, 35651980, 35784548, 35879379, 36578953, 36589808, 36750791, 37352166, 37369457, 37632946, 38047112, 38155379, 38372057, 39178758, 40018022, 40050757	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27936049	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	28188432		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic Metastasis	CTD_human_DG	29426936		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	28471834		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	21910720, 22575864, 31924734, 33735913	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	23161722, 23349307, 25787243, 25843629, 26071465, 28084334, 29846633		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	26457492	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	25511147, 27121112		★☆☆☆☆ Found in Text Mining only
Lymphoma, Intermediate-Grade	Intermediate Grade Lymphoma	BEFREE	22246856		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	27910030		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	14612909, 27910030		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	UNIPROT_DG	14612909		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	14612909, 27910030		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	25897843		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	22133769, 23161722, 31354304		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	22133769	Associate	★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	17204026, 17942460, 18096441, 18428050, 19072991, 19241144, 19424639, 19949877, 20670148, 21768580, 22120844, 22274583, 22306203, 23278430, 23553055, 23797718, 23897252, 23963522, 24034859, 24184227, 24196786, 24767862, 25076244, 25341111, 25557234, 25602793, 25696791, 25701956, 25710585, 26096739, 26537294, 27302833, 27438990, 27443823, 28059100, 28608265, 28664346, 28877066, 29341452, 29596542, 29645364, 30166308, 30723092, 30851981, 31471937, 31609810		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Madarosis of eyebrow	Madarosis Of Eyebrow	CLINVAR_DG	18413255		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG	23583981		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Glioma	Glioma	BEFREE	25667294, 27799506, 29039591, 31391125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	31781502		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of choroid	Choroidal melanoma	BEFREE	12917419, 16410717		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of iris	Iris melanoma	BEFREE	17962436		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	21081656, 23792568, 28620782, 31675726		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17314276, 22845480, 24318467, 25257380, 26577839, 26600545, 28843257, 29805676, 30629215, 30659267, 31547956		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	15723290, 16256179, 17388789, 19424571, 23370429, 23880961, 25341111, 27898420		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28537764		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	27745798		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	28009984, 29872151		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	12918080		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	CTD_human_DG	21813464		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	17514646		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29766713, 29799910		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12460918, 12460919, 16376942, 19010912, 21463141, 21483012, 21943394, 22012135, 22407457, 22649091, 22773810, 23370429, 23825589, 23900694, 23988622, 24035431, 24297085, 24550319, 25153497, 25273224, 25436800, 25706985, 25878335, 25894373, 25985019, 26200454, 26314551, 26386083, 26498038, 26711930, 26916442, 27834212, 27922010, 28012356, 28203297, 28625649, 28947956, 29348459, 29507487, 29516752, 29662630, 29723688, 30038713, 30224342, 30831205, 31440061, 31711466, 31744895		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	17693665		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12644542, 12893203, 15904951, 17309670, 17318013, 19018267, 19240718, 22012135, 22271473, 22820660, 22930283, 23089489, 23716351, 24889043, 26490654, 28992761, 31146483		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12969789, 14507635, 21734707, 26314551, 26637773, 26732095, 26927447, 29059158, 31769353		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16413100, 20526349, 22833462, 24283590, 25203299, 29650325		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	25735316, 29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	26115047, 31774904		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	14513361, 14534542, 14668801, 15616773, 23511561, 25794798, 26054683, 30045926		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	23374840		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	12670889, 12970315, 14996725, 15126572, 15272920, 15630448, 16533790, 16551863, 16772349, 16940797, 17054470, 17179987, 17363500, 17545628, 17717450, 17854396, 17878251, 17891249, 17891251, 17911174, 18032931, 18043251, 18310287, 18381570, 18426810, 18462259, 18502330, 18697864, 19147628, 19356676, 19487299, 19493000, 19850689, 19878585, 20142332, 20230995, 20498063, 20637346, 20926530, 21048359, 21142662, 21147872, 21167555, 21185263, 21351275, 21355020, 21383698, 21412762, 21447745, 21455199, 21526955, 21795305, 21803329, 21826673, 21878896, 22012135, 22105174, 22105775, 22118425, 22442268, 22504197, 22535974, 22583421, 22694820, 22858857, 23088640, 23161556, 23372702, 23427907, 23435375, 23496275, 23533233, 23559083, 23658295, 23668556, 23766237, 23775351, 23792105, 23833040, 23931930, 24161954, 24164374, 24243688, 24248188, 24295088, 24382015, 24400871, 24442520, 24446739, 24588959, 24617711, 24677749, 24811481, 24828987, 24873948, 24927793, 24955518, 25029414, 25120313, 25244593, 25262966, 25266729, 25285888, 25333496, 25467940, 25576899, 25862858, 25926393, 25961545, 26187369, 26258321, 26265449, 26314551, 26456083, 26543077, 26711586, 26732095, 26733501, 26751190, 26818109, 26857243, 26884114, 26943572, 27058903, 27179656, 27618325, 27689252, 27696232, 27754804, 27863429, 27880942, 27886677, 28201758, 28258306, 28910386, 29269566, 29293907, 29435002, 29487290, 29579361, 29593792, 29616135, 29737325, 29805692, 30024548, 30036146, 30256977, 30398411, 30481266, 30531837, 30760304, 30768848, 31097454, 31229486, 31289571, 31322645, 31412566, 31529211, 31540406		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	20853079, 25767210		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12068308, 12781369, 14500346, 14513361, 14612909, 14678966, 14734469, 14966563, 15005091, 15024080, 15026326, 15118616, 15191558, 15343278, 15363539, 15488754, 15547749, 15613458, 15616773, 15671769, 15753399, 15782118, 15796777, 16049985, 16144912, 16174717, 16256179, 16266992, 16273204, 16439621, 16501605, 16784975, 16983703, 16998316, 17119056, 17145850, 17208430, 17211612, 17251336, 17318013, 17404088, 17641411, 17692468, 18060073, 18172288, 18397470, 18413255, 18458053, 18602919, 18615679, 18644254, 18757433, 19010912, 19178815, 19217204, 19231149, 19362540, 19401449, 19493000, 19498322, 19561230, 19700418, 19861408, 19883729, 19917255, 20138116, 20222801, 20300843, 20472680, 20551065, 20570909, 20576522, 20629085, 20647301, 20807807, 20945104, 21049459, 21107323, 21160471, 21239517, 21249150, 21262211, 21426297, 21430779, 21553007, 21677471, 21707687, 21795305, 21818706, 21900390, 21900593, 21903858, 21910720, 21943394, 21948220, 21997758, 22039425, 22105362, 22147942, 22152101, 22170714, 22203991, 22227015, 22233760, 22313586, 22355009, 22369373, 22393095, 22406360, 22427238, 22430208, 22459936, 22535974, 22649091, 22706026, 22753589, 22763439, 22770943, 22804352, 22808163, 22858545, 22887810, 22973979, 22997209, 23045412, 23058743, 23060265, 23074264, 23116250, 23160425, 23192956, 23246082, 23263826, 23280049, 23294221, 23343956, 23354848, 23462926, 23518796, 23550516, 23585181, 23594689, 23595630, 23614898, 23621583, 23639941, 23651636, 23658295, 23690118, 23717622, 23726842, 23788674, 23800934, 23815339, 23837487, 23845435, 23849768, 23897969, 23925579, 23927882, 24035431, 24074409, 24117833, 24152305, 24161954, 24164374, 24244575, 24295088, 24309328, 24325952, 24417615, 24424304, 24446739, 24548081, 24557434, 24559275, 24589925, 24591408, 24610826, 24619974, 24642661, 24651849, 24664307, 24717435, 24766074, 24858900, 24860158, 24867389, 24873948, 24918610, 24946815, 24955706, 24957944, 25069797, 25106647, 25156883, 25239454, 25268611, 25305506, 25314065, 25329694, 25333496, 25353071, 25358764, 25496513, 25523300, 25550229, 25550768, 25600636, 25613750, 25651238, 25686114, 25724524, 25767210, 25832798, 25847954, 25868080, 25888143, 25926393, 25960206, 25961545, 26028035, 26053201, 26105717, 26121270, 26146664, 26166089, 26187369, 26215382, 26240026, 26253102, 26253700, 26287849, 26310975, 26314551, 26319365, 26343583, 26360803, 26376292, 26386083, 26422023, 26548748, 26569584, 26582795, 26720421, 26768236, 26864072, 26912807, 26921540, 26962170, 27036313, 27037411, 27048951, 27145091, 27145369, 27196768, 27207774, 27273156, 27321184, 27329244, 27342756, 27354468, 27410688, 27438990, 27478040, 27497007, 27528624, 27556693, 27617932, 27661107, 27689252, 27750022, 27765851, 27818286, 27834212, 27886225, 27914130, 27928645, 27940476, 27943100, 28009984, 28052407, 28069687, 28108460, 28129674, 28134728, 28158294, 28373167, 28454577, 28490781, 28512244, 28539463, 28638488, 28723215, 28767374, 28796396, 28834810, 28899979, 28918044, 28954285, 28963969, 29059158, 29059159, 29072975, 29083503, 29097618, 29112787, 29115941, 29117359, 29137342, 29148535, 29148538, 29192388, 29227915, 29229605, 29235562, 29299145, 29304767, 29320991, 29348459, 29387237, 29396809, 29440321, 29461827, 29469940, 29484737, 29540830, 29547736, 29560564, 29649018, 29704233, 29755114, 29760222, 29788737, 29808006, 29857068, 29895015, 29969659, 30055463, 30115691, 30122982, 30157175, 30181170, 30200918, 30219154, 30254212, 30275173, 30383888, 30398411, 30449496, 30463359, 30558661, 30620446, 30680261, 30753821, 30815041, 30815911, 30828992, 30901674, 30909892, 30925905, 30984614, 30995246, 31114383, 31124185, 31127889, 31175136, 31227255, 31266962, 31305897, 31333799, 31426419, 31540406, 31548614, 31563816, 31596728, 31612562, 31672130, 31762942, 31811566, 31821747, 31826932, 31833955, 31837432		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	18413802, 19142971, 23190154, 24335681, 25035100, 29162506		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12781369, 14500346, 15118616, 15340260, 15342696, 16024606, 17096326, 17293392, 17393356, 17427169, 18186519, 18208804, 18435933, 18519771, 18832519, 18846109, 19002263, 19424571, 19582761, 19843849, 19903786, 19908233, 20008640, 20186005, 20444249, 20635392, 20664940, 21037082, 21423154, 21738611, 22281684, 22393095, 22684223, 23045248, 23074264, 23251002, 23274581, 23547084, 23592171, 23617638, 23650027, 23741067, 23792568, 23845435, 23979710, 24025253, 24325952, 24339949, 24500602, 24670642, 24687927, 24805134, 24925349, 24964758, 25267307, 25361982, 25367198, 25636897, 25696791, 25884297, 25899003, 25936694, 26145760, 26160848, 26160882, 26365186, 26376292, 26471487, 26527776, 26553611, 26872400, 27058664, 27321184, 27391062, 27729614, 27770401, 27827301, 28025078, 28067073, 28125730, 28623901, 28951457, 29127628, 29128266, 29167314, 29167892, 29169325, 29281831, 29541216, 29556349, 29568398, 29790124, 30181415, 30396937, 30579838, 30623363, 30853326, 30963391, 31083627, 31185985, 31545494, 31727009, 31811196, 31842975		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant Uterine Corpus Neoplasm	Malignant Uterine Corpus Neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CLINVAR_DG	12068308, 22538770, 25157968		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22105362		★☆☆☆☆ Found in Text Mining only
Mandibular Neoplasms	Mandibular Neoplasms	CTD_human_DG	24859340		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	25511147, 27121112		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	22847364		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	16407376, 18782444, 19127559, 21289333, 22027477, 22147942, 23110075, 28040692, 29518181, 30188916, 31636305		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	31685033	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	25034364		★☆☆☆☆ Found in Text Mining only
Mature B-Cell Neoplasm	B-Cell Neoplasm	BEFREE	30197362		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	29753010		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	14602780, 18502330, 25120313, 27001432		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	15947103, 18383861, 18502330, 22865907, 23042124, 25120313, 26081844, 27001432, 27535135, 27618325		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	29878245		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	12873977, 14501284, 14708620, 15009714, 15009715, 15252839, 15313890, 15373778, 15824163, 15965430, 16079850, 16179867, 16354196, 16445780, 16567964, 16691193, 16750612, 16799476, 16845322, 16888631, 17507627, 17696195, 19438459, 19461239, 19752400, 19788535, 19919630, 20716222, 21224857, 21326296, 21430779, 22549727, 23051629, 23413975, 23528057, 23690527, 23861977, 24531394, 24614711, 24695877, 24703243, 24842760, 25039578, 25380183, 25888143, 26190239, 26300491, 26613644, 27009410, 27192168, 28714107, 28753606, 28935960, 29126970, 29152725, 29332123, 29406329, 29476775, 29507566, 29653212, 29860247, 30194076		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	LHGDN	15009715, 16417232, 16845322, 17518771		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	GENOMICS_ENGLAND_DG	19206169		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Melanocytic nevus syndrome congenital	Melanocytic nevus	Pubtator	24129063, 31111470, 32847629, 35577105, 36085074, 37716647	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CLINVAR_DG	12068308, 12460918, 12460919, 14679157, 16096377, 18060073, 18794803, 19010912, 19238210, 19404918, 20141835, 20551065, 20630094, 20818844, 21156289, 21483012, 21639808, 21750866, 22048237, 22351686, 22356324, 22389471, 22536370, 22608338, 22649091, 22663011, 22735384, 22743296, 22798288, 22805292, 22972589, 22997239, 23020132, 23031422, 23237741, 23248257, 23273605, 23317446, 23524406, 23614898, 23715574, 23833300, 23918947, 24388723, 24508103, 24576830, 24583796, 24586605, 24710085, 24918823, 2493360, 25157968, 25370471, 25656898, 26678033, 2872605		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	LHGDN	12068308, 12619120, 12778069, 12810628, 12917419, 14522897, 14691295, 14695152, 14961576, 15009714, 15140228, 15179189, 15191558, 15277467, 15313890, 15330192, 16096377, 16098042, 16129781, 16179867, 16354196, 16462768, 16547495, 16773193, 16799476, 16809487, 16845322, 16912199, 16924241, 17001349, 17018604, 17119447, 17315191, 17507627, 17516929, 17699719, 17962436, 18032947, 18071315, 18172070, 18323787, 18368129, 18375819, 18402768, 18451171, 18509361, 18532874, 18628967, 18632627, 18650848, 18668139, 18715233, 18794803, 18953432, 18985043		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	BEFREE	12068308, 12150818, 12438234, 12460918, 12591721, 12619120, 12670889, 12697856, 12778069, 12781369, 12789291, 12794760, 12810628, 12819038, 12873977, 12873990, 12960123, 14500344, 14501284, 14508525, 14522881, 14522889, 14522897, 14679157, 14681681, 14691295, 14695152, 14695993, 14708620, 14719068, 14722037, 14743508, 14961576, 14984580, 14996715, 15005091, 15009714, 15048078, 15059882, 15060100, 15104286, 15126572, 15140228, 15161700, 15179189, 15191558, 15195137, 15208655, 15252839, 15277467, 15289355, 15313890, 15330192, 15331929, 15373778, 15467732, 15515191, 15547749, 15577314, 15578519, 15588860, 15613458, 15641040, 15657897, 15688405, 15735667, 15737846, 15760917, 15781657, 15782137, 15811117, 15824163, 15917418, 15928660, 15948115, 15948220, 15965430, 16001072, 16049985, 16096377, 16096402, 16098042, 16116595, 16117801, 16129781, 16170021, 16179867, 16273242, 16291983, 16354196, 16371460, 16410717, 16413100, 16417231, 16421887, 16424035, 16445780, 16452469, 16462768, 16474847, 16540682, 16567964, 16609049, 16647948, 16731745, 16750612, 16799476, 16809487, 16818621, 16845322, 16873291, 16888631, 16899595, 16901402, 16908931, 16912199, 16924241, 16960555, 16964379, 17001349, 17050671, 17119447, 17159915, 17208430, 17301836, 17363583, 17372901, 17384209, 17409425, 17443002, 17492934, 17507627, 17575149, 17597816, 17690212, 17699719, 17878251, 17974567, 18032947, 18071315, 18172070, 18172288, 18227705, 18246127, 18279546, 18323787, 18347137, 18368129, 18374154, 18375819, 18402768, 18421705, 18451171, 18458053, 18460031, 18462259, 18483309, 18508762, 18515281, 18524847, 18532874, 18559533, 18615679, 18628967, 18650848, 18668139, 18679422, 18715233, 18787543, 18790768, 18794153, 18794803, 18829533, 18945298, 18953432, 18985043, 19033861, 19037234, 19233913, 19244113, 19264228, 19276360, 19319568, 19336517, 19351826, 19372583, 19383313, 19383316, 19389934, 19398955, 19438459, 19461239, 19464601, 19493000, 19509136, 19549918, 19571821, 19633643, 19649202, 19659611, 19671679, 19682280, 19737955, 19788444, 19788535, 19799798, 19861408, 19880519, 19915144, 19919912, 19936769, 20010862, 20068179, 20130576, 20141835, 20149136, 20182446, 20186005, 20233623, 20332228, 20357817, 20401974, 20425073, 20431030, 20529342, 20551059, 20551065, 20576522, 20605766, 20629085, 20630094, 20689758, 20697345, 20716222, 20818844, 20823850, 20883818, 20925915, 20944096, 20959475, 20973932, 20975100, 21041578, 21107320, 21107323, 21139585, 21166657, 21215707, 21224857, 21232023, 21251612, 21262211, 21270111, 21295875, 21324100, 21326296, 21343559, 21345796, 21362156, 21366456, 21383153, 21393075, 21426297, 21430779, 21430780, 21482206, 21483012, 21505227, 21527556, 21570823, 21606968, 21615881, 21635872, 21639808, 21670085, 21717063, 21725359, 21750866, 21753785, 21788131, 21793228, 21796622, 21803746, 21826607, 21827678, 21828154, 21829508, 21910007, 21917148, 21923753, 21962474, 21997758, 22000016, 22011445, 22012135, 22020039, 22020736, 22034865, 22044938, 22045652, 22071132, 22091682, 22113612, 22154054, 22156613, 22157295, 22189819, 22194965, 22222036, 22231762, 22234612, 22235286, 22241959, 22250191, 22281663, 22281684, 22306669, 22321987, 22332713, 22355009, 22361686, 22369373, 22382362, 22391147, 22395415, 22395615, 22406360, 22425959, 22448344, 22453012, 22454415, 22456166, 22484192, 22493355, 22511720, 22535154, 22537109, 22549727, 22553342, 22554099, 22562245, 22576211, 22578220, 22581800, 22584957, 22588879, 22608338, 22614711, 22614978, 22619125, 22661223, 22661227, 22663011, 22730329, 22735384, 22742884, 22744255, 22763439, 22772867, 22796458, 22798288, 22805292, 22809251, 22817889, 22850568, 22858545, 22880048, 22895053, 22912864, 22945644, 22962324, 22962325, 22972589, 22983396, 22991232, 22997239, 23001925, 23020131, 23020132, 23026937, 23027900, 23031422, 23041829, 23051966, 23056577, 23058743, 23060265, 23069660, 23082737, 23086767, 23087082, 23088640, 23095503, 23096702, 23116250, 23134356, 23159108, 23159593, 23171796, 23174497, 23204132, 23207060, 23208503, 23211290, 23237741, 23239741, 23242808, 23246082, 23248257, 23251002, 23258922, 23273605, 23278726, 23288408, 23290787, 23302800, 23306863, 23307859, 23317446, 23318787, 23319765, 23326492, 23329082, 23341544, 23349307, 23353821, 23360189, 23369684, 23382536, 23403819, 23406774, 23414474, 23414587, 23415641, 23416158, 23418523, 23420410, 23438383, 23444215, 23447565, 23454771, 23454897, 23455323, 23463675, 23475878, 23477830, 23486431, 23489023, 23489578, 23499336, 23516541, 23538902, 23543365, 23549875, 23550516, 23552414, 23568704, 23579220, 23579338, 23584600, 23608920, 23614898, 23615632, 23620404, 23621583, 23624923, 23633021, 23633454, 23650282, 23651150, 23658295, 23664541, 23685455, 23690527, 23694694, 23704925, 23709751, 23735514, 23737487, 23744355, 23770823, 23782679, 23792568, 23800008, 23802768, 23808890, 23812671, 23817129, 23831555, 23833299, 23844038, 23847359, 23852164, 23861977, 23890154, 23900694, 23903755, 23907440, 23909652, 23922205, 23928771, 23934108, 23935925, 23938765, 23948972, 23955071, 23957481, 23976959, 23977666, 24003131, 24048637, 24054424, 24055054, 24071017, 24073999, 24077403, 24080641, 24089445, 24098023, 24104062, 24108467, 24112705, 24114739, 24117833, 24118207, 24119386, 24121492, 24161908, 24161954, 24183461, 24185007, 24196789, 24200692, 24200969, 24201813, 24202393, 24248543, 24258977, 24258979, 24265152, 24265153, 24265154, 24265155, 24283590, 24295639, 24309328, 24335665, 24342721, 24345644, 24345920, 24352080, 24352648, 24388723, 24398428, 24402945, 24403169, 24413374, 24419498, 24422853, 24424304, 24424406, 24425783, 24446739, 24448821, 24451276, 24468268, 24469106, 24471189, 24471909, 24483290, 24489105, 24490764, 24504441, 24504448, 24508103, 24520098, 24531394, 24531699, 24531984, 24535907, 24550252, 24559688, 24563339, 24567366, 24569374, 24576830, 24581497, 24582505, 24583796, 24588073, 24588892, 24589925, 24600206, 24602025, 24604154, 24610826, 24614711, 24616537, 24625733, 24628946, 24641301, 24651527, 24664307, 24667377, 24670642, 24671490, 24684646, 24697775, 24706656, 24709886, 24710085, 24714776, 24717435, 24725538, 24735930, 24742694, 24746704, 24749938, 24755198, 24766074, 24771846, 24789032, 24795008, 24795014, 24812130, 24823520, 24842760, 24844134, 24858661, 24858900, 24865425, 24866436, 24879157, 24885594, 24906137, 24917033, 24918823, 24919155, 24920406, 24922189, 24923272, 24926836, 24941944, 24942556, 24943872, 24947927, 24950457, 24955706, 24957944, 24958825, 24967732, 24970815, 25014231, 25026375, 25030020, 25033756, 25034364, 25035100, 25036880, 25037139, 25037456, 25043693, 25046227, 25048604, 25051202, 25056119, 25070294, 25073704, 25079100, 25079330, 25109949, 25117819, 25142146, 25145427, 25159853, 25174651, 25180764, 25182332, 25185693, 25204436, 25211166, 25228337, 25236573, 25243790, 25262755, 25265492, 25265494, 25265970, 25275294, 25287827, 25287912, 25294877, 25296968, 25297634, 25318602, 25319388, 25320006, 25320010, 25339196, 25341653, 25343173, 25351955, 25357015, 25358764, 25359093, 25361077, 25370471, 25370473, 25370533, 25376477, 25385327, 25395294, 25399552, 25407517, 25411185, 25422890, 25426645, 25433395, 25442222, 25454717, 25456393, 25467940, 25472943, 25477091, 25486195, 25502087, 25502142, 25515853, 25516505, 25517746, 25537510, 25538140, 25542448, 25544599, 25550229, 25583765, 25600339, 25602684, 25607474, 25612618, 25615552, 25618774, 25619724, 25623140, 25624498, 25627962, 25643238, 25646931, 25651238, 25654738, 25673644, 25686114, 25705882, 25712345, 25742786, 25744437, 25746037, 25746038, 25749811, 25752325, 25752368, 25766129, 25767048, 25768829, 25769001, 25784606, 25789707, 25789737, 25795007, 25795410, 25797743, 25807549, 25813020, 25814555, 25818589, 25819940, 25839886, 25848750, 25854919, 25867272, 25868080, 25873177, 25873592, 25888143, 25890285, 25894373, 25899612, 25906420, 25909885, 25915038, 25933211, 25942671, 25948295, 25952101, 25956405, 25960652, 25971842, 25976231, 25976339, 25980594, 25988349, 25989506, 25991583, 26001180, 26020488, 26027934, 26037941, 26040620, 26045855, 26055532, 26056325, 26058727, 26061392, 26063764, 26073081, 26083553, 26095797, 26098773, 26109403, 26110554, 26116372, 26124322, 26135342, 26136337, 26138035, 26141748, 26145173, 26146664, 26168233, 26175403, 26181188, 26183406, 26202951, 26202952, 26204954, 26206558, 26208478, 26208524, 26208946, 26210887, 26214590, 26218930, 26224403, 26225944, 26242321, 26286024, 26297254, 26300491, 26305188, 26314551, 26317169, 26319365, 26332527, 26339422, 26340744, 26341689, 26358176, 26365896, 26386083, 26392102, 26397052, 26405815, 26407762, 26419469, 26433819, 26440571, 26442859, 26458607, 26462148, 26497853, 26497996, 26498038, 26498143, 26512791, 26517521, 26562020, 26565903, 26569584, 26577700, 26582795, 26600396, 26608120, 26613644, 26615134, 26616061, 26630683, 26633701, 26636909, 26637773, 26643848, 26652624, 26659191, 26668268, 26673621, 26673799, 26678033, 26684394, 26690267, 26731560, 26743513, 26771234, 26782803, 26790143, 26790525, 26797421, 26801070, 26810733, 26813076, 26825657, 26825879, 26828592, 26829212, 26832798, 26844986, 26848795, 26851802, 26852222, 26864554, 26878440, 26909610, 26913480, 26921540, 26924126, 26924424, 26936534, 26940938, 26961773, 26962685, 26967479, 26978007, 26980024, 26983408, 26988987, 26993606, 26997441, 27004972, 27009213, 27009410, 27020384, 27041702, 27048951, 27063195, 27095081, 27095580, 27101548, 27105345, 27131079, 27138260, 27145091, 27147251, 27169980, 27192168, 27194447, 27196754, 27203149, 27210749, 27216186, 27218826, 27219630, 27226552, 27250023, 27273450, 27283860, 27297629, 27297867, 27320919, 27321184, 27327499, 27333051, 27337967, 27338362, 27342756, 27350555, 27354627, 27363650, 27371224, 27378568, 27384486, 27418645, 27424159, 27428425, 27436149, 27448964, 27449293, 27466810, 27480103, 27488807, 27490749, 27494648, 27500726, 27515299, 27539851, 27540956, 27541170, 27542908, 27566656, 27569556, 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30478450, 30480620, 30481565, 30482852, 30482853, 30489553, 30500343, 30501438, 30503930, 30507327, 30509087, 30521084, 30538498, 30543563, 30546949, 30550954, 30552700, 30556435, 30558566, 30558661, 30561760, 30562218, 30580112, 30582770, 30588251, 30601377, 30601876, 30607792, 30611716, 30622172, 30631106, 30634993, 30651601, 30651927, 30652516, 30654190, 30657954, 30661097, 30665926, 30667539, 30675668, 30680261, 30681641, 30707374, 30717768, 30719722, 30725414, 30728057, 30735560, 30745871, 30771009, 30782837, 30792348, 30793515, 30794926, 30798169, 30803557, 30806748, 30815041, 30824801, 30829029, 30833299, 30844744, 30854056, 30868471, 30870099, 30872078, 30883505, 30884760, 30899440, 30900145, 30909892, 30920401, 30923800, 30925905, 30934534, 30939167, 30944613, 30959471, 30971321, 30972290, 30977681, 30979895, 30992297, 30995246, 30997532, 31020608, 31024839, 31034104, 31039200, 31040916, 31050693, 31056729, 31058533, 31059816, 31063355, 31063649, 31064886, 31065107, 31076580, 31095038, 31102256, 31108244, 31114933, 31115969, 31123282, 31124185, 31157737, 31171876, 31171878, 31171879, 31190430, 31200439, 31207212, 31211467, 31213499, 31223037, 31227006, 31227516, 31242070, 31261023, 31269460, 31270153, 31274706, 31277584, 31279529, 31305324, 31306728, 31317143, 31318566, 31329344, 31362075, 31374895, 31393083, 31396346, 31398831, 31401373, 31403745, 31415669, 31416844, 31419753, 31425480, 31439581, 31467489, 31490286, 31514305, 31514399, 31517642, 31518489, 31540406, 31552251, 31555967, 31557826, 31567539, 31571292, 31580832, 31581557, 31594749, 31618628, 31618797, 31645440, 31648585, 31653096, 31661924, 31663466, 31672771, 31672856, 31677173, 31677253, 31702822, 31704364, 31705737, 31708414, 31727009, 31727888, 31741065, 31744894, 31750971, 31753111, 31754963, 31758648, 31783660, 31785018, 31791701, 31796433, 31803366, 31811783, 31819183, 31826932, 31833840, 31833955, 31839677, 31839773		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	12150818, 12821662, 12917419, 14691295, 14708620, 15009714, 15140228, 15145934, 15184373, 15191558, 15330192, 15361259, 15373778, 15503312, 15515191, 15824163, 15904951, 15935100, 16001072, 16098042, 16098043, 16116595, 16117801, 16291983, 16354196, 16410717, 16417231, 16421887, 16799476, 16801397, 16815849, 16880785, 16888631, 16960555, 17001349, 17050671, 17159915, 17201154, 17384209, 17404088, 17581615, 17597816, 17690212, 17824790, 18045987, 18079751, 18323787, 18368129, 18375819, 18408659, 18458053, 18483309, 18508762, 18509361, 18524847, 18532874, 18559533, 18615679, 18628967, 18668139, 18679422, 18761657, 18787543, 18790768, 18794803, 18953432, 18985043, 19037234, 19039588, 19088048, 19226609, 19233913, 19244105, 19244113, 19336517, 19362540, 19372583, 19383313, 19383316, 19394291, 19404918, 19438459, 19509136, 19549918, 19571821, 19581576, 19633643, 19659611, 19724275, 19737955, 19799798, 19915144, 19936769, 20010862, 20067552, 20140953, 20149136, 20179232, 20332228, 20357817, 20531415, 20630094, 20647317, 20679909, 20689758, 20818433, 20818844, 20843808, 20874733, 20925915, 20975100, 21098728, 21107320, 21107323, 21131919, 21224857, 21324100, 21326296, 21364673, 21383288, 21464823, 21478267, 21494657, 21536929, 21609436, 21639808, 21726664, 21738740, 21753785, 21768778, 21793228, 21803746, 21827678, 21917148, 21996740, 22020736, 22022384, 22039425, 22067401, 22180178, 22189819, 22194965, 22234612, 22235286, 22241959, 22277029, 22332713, 22356324, 22382362, 22385786, 22395615, 22437314, 22454415, 22456166, 22475322, 22536370, 22537109, 22554099, 22581800, 22588879, 22589389, 22609219, 22614973, 22663011, 22718120, 22730329, 22744255, 22751131, 22763439, 22798288, 22809251, 22817889, 22820187, 22842228, 22850568, 22858545, 22869096, 22895053, 22912864, 22931913, 22938585, 22972589, 23001925, 23020131, 23020132, 23027900, 23031422, 23036672, 23041829, 23076151, 23093505, 23096702, 23134356, 23153455, 23153539, 23159108, 23190890, 23208503, 23248257, 23258922, 23273605, 23288408, 23306863, 23307859, 23317446, 23318787, 23326492, 23344460, 23358426, 23377457, 23382536, 23403819, 23406731, 23418523, 23444215, 23447565, 23454897, 23457002, 23477830, 23489023, 23490205, 23499336, 23516541, 23555633, 23579220, 23584600, 23594535, 23603840, 23624919, 23651150, 23658295, 23673558, 23694694, 23704925, 23833299, 23860532, 23861977, 23890088, 23890105, 23893412, 23922205, 23976959, 23987572, 23994118, 24023633, 24051699, 24055054, 24119386, 24185007, 24196789, 24200969, 24220097, 24265152, 24265153, 24265154, 24265155, 24274261, 24283590, 24300435, 24309328, 24345920, 24362263, 24400126, 24402945, 24407165, 24422853, 24424406, 24429876, 24445759, 24466036, 24504441, 24504448, 24508103, 24531394, 24535907, 24548268, 24576830, 24588892, 24588908, 24589925, 24591764, 24604154, 24608435, 24616037, 24628946, 24664307, 24691053, 24709886, 24710085, 24710960, 24713734, 24733413, 24735930, 24742694, 24771846, 24812130, 24840574, 24853952, 24858661, 24865425, 24866436, 24884503, 24885594, 24893747, 24917033, 24918823, 24941944, 24943872, 24961811, 24970815, 25026375, 25030020, 25037456, 25048604, 25051202, 25056119, 25061102, 25063807, 25074438, 25142146, 25148578, 25174651, 25179409, 25182332, 25198196, 25243790, 25265492, 25265494, 25265970, 25268584, 25287827, 25297634, 25300205, 25318602, 25319388, 25320010, 25321469, 25329694, 25333256, 25339196, 25343173, 25350317, 25360634, 25376477, 25393105, 25399551, 25407517, 25411413, 25437182, 25452114, 25482183, 25501056, 25517746, 25524477, 25526463, 25538140, 25542447, 25557167, 25576527, 25583765, 25600339, 25600636, 25607474, 25627962, 25651238, 25684511, 25695059, 25695333, 25742786, 25749811, 25767048, 25769001, 25784457, 25784606, 25784655, 25789707, 25789737, 25795007, 25807549, 25814555, 25835050, 25836739, 25846811, 25850435, 25857817, 25886620, 25890285, 25894373, 25948295, 25952101, 25956405, 25960652, 25962795, 26018524, 26037795, 26040620, 26058727, 26063764, 26076063, 26083553, 26084293, 26095797, 26105199, 26115796, 26141621, 26141748, 26145173, 26146664, 26152183, 26176686, 26187589, 26201960, 26204954, 26218930, 26269601, 26279295, 26302068, 26314551, 26319365, 26332527, 26343386, 26351322, 26355347, 26356671, 26405815, 26426340, 26437005, 26440571, 26440707, 26458607, 26490313, 26498038, 26498143, 26504080, 26562020, 26564811, 26569584, 26582795, 26588333, 26600396, 26607775, 26633701, 26637773, 26668268, 26684239, 26690267, 26695089, 26703469, 26776205, 26787892, 26801070, 26807515, 26815318, 26825879, 26828592, 26828826, 26863566, 26875008, 26880821, 26921540, 26924424, 26959890, 26961773, 26967479, 26977874, 26977879, 27009410, 27026619, 27043753, 27048246, 27055402, 27075584, 27095081, 27095580, 27101548, 27102439, 27105345, 27111917, 27150060, 27167340, 27168024, 27172483, 27191502, 27192168, 27226552, 27255157, 27283860, 27336602, 27338362, 27350555, 27377892, 27424159, 27436149, 27447748, 27460442, 27466810, 27482033, 27502397, 27503895, 27520988, 27541170, 27542908, 27563819, 27566656, 27571413, 27596438, 27616484, 27689874, 27708104, 27711085, 27748762, 27765851, 27766572, 27771229, 27791198, 27846054, 27855847, 27863426, 27863476, 27864876, 27883322, 27911794, 27934295, 27977682, 27990727, 27993725, 28026870, 28039443, 28052651, 28067893, 28067894, 28075446, 28140520, 28170370, 28205616, 28228113, 28231855, 28356599, 28378855, 28380455, 28387310, 28423600, 28444112, 28445254, 28454577, 28475671, 28500236, 28533659, 28546431, 28595656, 28599981, 28630054, 28646893, 28655712, 28659148, 28660280, 28662062, 28668077, 28681063, 28721890, 28724666, 28743309, 28753606, 28792927, 28797232, 28811486, 28814448, 28827320, 28842324, 28851300, 28858076, 28891408, 28915798, 28921907, 28928360, 28936920, 28963614, 28982154, 28991513, 29039591, 29042774, 29048432, 29048639, 29061376, 29074620, 29112787, 29120401, 29133035, 29171936, 29175850, 29176861, 29177265, 29180761, 29191620, 29202777, 29212027, 29212029, 29218872, 29229836, 29232304, 29263201, 29266761, 29305225, 29310328, 29315345, 29348439, 29350463, 29360643, 29361821, 29369405, 29385656, 29393387, 29469793, 29505523, 29507054, 29524457, 29554022, 29558679, 29559732, 29565994, 29570692, 29574239, 29590606, 29605720, 29621181, 29644577, 29653212, 29674508, 29684045, 29727562, 29753029, 29755118, 29777202, 29778085, 29846702, 29879227, 29880840, 29929490, 29956724, 29970025, 29990499, 30010756, 30036146, 30042206, 30042493, 30053905, 30073321, 30076926, 30113761, 30116025, 30117519, 30150674, 30175642, 30194076, 30210039, 30241212, 30247203, 30254376, 30255823, 30277012, 30282811, 30315274, 30383630, 30383888, 30396063, 30422243, 30500343, 30543563, 30552700, 30558566, 30558661, 30582770, 30598499, 30601876, 30611716, 30614626, 30630828, 30631106, 30633154, 30657954, 30672666, 30683711, 30690710, 30691132, 30709805, 30735560, 30776432, 30791119, 30792348, 30793515, 30799646, 30806748, 30824584, 30844744, 30890564, 30900145, 30905807, 30923800, 30925905, 30925943, 30939167, 30975894, 30989459, 30994353, 30995246, 31019203, 31068348, 31076580, 31077681, 31166947, 31171879, 31174179, 31186280, 31211467, 31213499, 31223037, 31231022, 31267558, 31277584, 31289333, 31316083, 31317143, 31320640, 31323160, 31348273, 31350469, 31399133, 31415669, 31419753, 31456414, 31514305, 31517642, 31524142, 31527213, 31532537, 31573152, 31578454, 31580757, 31580832, 31624899, 31630873, 31635389, 31644622, 31647501, 31663466, 31672130, 31677253, 31727009, 31732523, 31744894, 31745173, 31756131, 31758648, 31774543, 31783660, 31811783, 31817947, 31819183, 31836388, 31839677, 31844050, 31866016, 31877948, 31900433, 31901705, 31936151, 31974262, 32004563, 32036084, 32043788, 32066648, 32083130, 32085741, 32155032, 32168325, 32178301, 32188503, 32188904, 32231230, 32236593, 32238401, 32241802, 32313236, 32321474, 32330348, 32345725, 32362631, 32393282, 32406600, 32413516, 32414111, 32449784, 32466509, 32532957, 32562785, 32572820, 32613561, 32633344, 32672795, 32679231, 32685785, 32697281, 32699976, 32718103, 32746839, 32775409, 32815748, 32847629, 32871054, 32875931, 32877599, 32898554, 32912923, 32918774, 32933538, 32938713, 32967672, 33020646, 33044751, 33046726, 33060170, 33067454, 33084375, 33100226, 33105692, 33109619, 33113355, 33119140, 33122628, 33122747, 33128316, 33138697, 33184347, 33202284, 33229534, 33230298, 33232779, 33259900, 33266349, 33272017, 33275172, 33288749, 33312171, 33321086, 33370253, 33383577, 33406789, 33419898, 33451139, 33469107, 33478111, 33483342, 33507915, 33560788, 33604667, 33619394, 33649790, 33672955, 33684228, 33707308, 33722853, 33723350, 33731038, 33741929, 33794192, 33798262, 33808483, 33810240, 33810799, 33844777, 33861486, 33904516, 33907234, 33917086, 33917428, 33970440, 33978681, 33984673, 34044811, 34108180, 34142226, 34159774, 34201096, 34227206, 34243078, 34308699, 34326399, 34350734, 34355491, 34482636, 34537078, 34573422, 34582363, 34590600, 34621046, 34639107, 34671754, 34673281, 34677256, 34681018, 34732527, 34743688, 34751028, 34755244, 34757067, 34769348, 34799355, 34882087, 34885944, 34930313, 34930786, 34936949, 34942440, 35022320, 35030011, 35042070, 35044091, 35080260, 35148308, 35148998, 35156519, 35163570, 35192052, 35232962, 35265066, 35269787, 35272485, 35272691, 35290123, 35294533, 35307409, 35332658, 35344989, 35383113, 35385748, 35396243, 35440004, 35441522, 35454350, 35551160, 35561126, 35579105, 35580987, 35623725, 35642348, 35643181, 35684471, 35688970, 35728875, 35752358, 35775707, 35798536, 35798875, 35805902, 35862871, 35871080, 35879777, 35883549, 35941108, 35969127, 35970041, 35973038, 35993275, 36038253, 36064728, 36114599, 36130505, 36166727, 36170791, 36261329, 36273892, 36282887, 36309522, 36400750, 36402789, 36418472, 36434616, 36442478, 36500607, 36529262, 36539575, 36593066, 36653848, 36657398, 36672171, 36674794, 36700386, 36700470, 36704723, 36739402, 36753617, 36758042, 36768289, 36841436, 36854237, 36859545, 36881068, 36901733, 36901951, 36902392, 36906728, 36926987, 36963492, 36967525, 36988401, 37013641, 37016119, 37072838, 37114375, 37169747, 37174717, 37176114, 37182332, 37219686, 37241207, 37252843, 37277330, 37298104, 37309702, 37328818, 37345669, 37368101, 37403699, 37409486, 37419396, 37432950, 37446932, 37495601, 37506329, 37511580, 37534686, 37543586, 37544359, 37569660, 37629086, 37665297, 37775918, 37776537, 37816303, 37831226, 37837178, 37867623, 37895015, 37962220, 38008717, 38029480, 38039778, 38113780, 38156937, 38167503, 38169595, 38261444, 38383070, 38470950, 38484692, 38614086, 38615585, 39175042, 39273022, 39300183, 39337557, 39387479, 39427441, 39564955, 39584754, 39596009, 39609824, 39766280, 39940799, 39970351, 40028330, 40135438, 40141318, 40411977, 40503961	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CTD_human_DG	18421705, 19282848, 20973932, 21499247, 21606968, 21639808, 21656352, 21770473, 21802280, 22535842, 22842228, 23237741, 23432625, 23584600, 23587417, 24154489, 25043973, 26192916, 26214590, 27222248, 27689874, 29426936, 29574239, 31580832		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	29360604, 30657954, 39240541	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	30835257, 32562785	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	UNIPROT_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma Amelanotic	Melanoma	Pubtator	31432325, 34433708	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	12778069, 12917419, 14691295, 15009714, 15060100, 15181454, 15641040, 15935100, 16098042, 16417231, 16452469, 16799476, 17404088, 17690212, 18679422, 19037234, 19383313, 19383316, 19571821, 19919630, 19936769, 20959481, 20975100, 21324100, 21828154, 23041829, 23096702, 23159593, 23248257, 23418523, 23489578, 23704925, 24535907, 24576830, 25048604, 25243790, 25407517, 25600636, 25607474, 25767048, 25890285, 26152183, 26376781, 26600396, 26744134, 26807515, 28075446, 28138035, 28614138, 28668077, 28787433, 28797232, 28851300, 28858076, 29399853, 29956724, 30384563, 30925905, 31416844, 31630873, 31659259, 32467529, 32581366, 33105692, 34040017, 34142226, 34246984, 34482636, 34694198, 35044091, 35551160, 36704723, 37114375, 37205232, 38615585, 39337557, 39427441, 39564955, 39609824, 40023845	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma, Amelanotic	Melanoma	BEFREE	23938765, 24393566		★☆☆☆☆ Found in Text Mining only
Melanosis	Melanosis	BEFREE	29999207		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	27350555		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	19416762		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	16498399		★☆☆☆☆ Found in Text Mining only
Mesial temporal lobe epilepsy with hippocampal sclerosis	Mesial temporal lobe epilepsy with hippocampal sclerosis	BEFREE	29476662		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	LHGDN	14719068		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	20222801		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	12873977, 12960123, 15289355, 16096377, 17384209, 19276165, 19724275, 20818844, 21041578, 21139585, 21343559, 21639808, 21793228, 21997758, 22028422, 22037033, 22156613, 22157295, 22180178, 22235286, 22293660, 22306669, 22332713, 22356324, 22500535, 22535154, 22614711, 22614973, 22617000, 22619125, 22640478, 22646765, 22661223, 22663011, 22675422, 22693252, 22723080, 22726224, 22735384, 22798288, 22804352, 22878367, 22912864, 22981500, 23026937, 23036672, 23051966, 23060265, 23087082, 23094782, 23159108, 23174497, 23211290, 23237741, 23276366, 23307859, 23326492, 23329082, 23360189, 23403819, 23413975, 23438383, 23454771, 23463675, 23481513, 23499336, 23528057, 23528218, 23555633, 23569304, 23581649, 23617343, 23621583, 23651150, 23673558, 23715079, 23735514, 23738911, 23770823, 23800008, 23833299, 23852164, 23855428, 23881668, 23918947, 23922205, 23976959, 23994118, 24027077, 24073999, 24108467, 24129426, 24178368, 24265153, 24276025, 24295639, 24325952, 24335665, 24342290, 24345644, 24374975, 24403169, 24419498, 24463458, 24484235, 24496868, 24504441, 24508103, 24582505, 24583796, 24586605, 24602025, 24604154, 24712861, 24717435, 24720932, 24732172, 24735930, 24815010, 24880945, 24888229, 24901049, 24918823, 24922191, 24933606, 24946815, 24957944, 24966667, 24969466, 25037456, 25079100, 25185693, 25198196, 25257244, 25265492, 25265494, 25320010, 25344914, 25351955, 25370473, 25376477, 25380183, 25382067, 25399551, 25399552, 25407517, 25426645, 25437182, 25452114, 25456393, 25477091, 25488880, 25490969, 25523300, 25576527, 25597784, 25602684, 25622086, 25623140, 25686114, 25746037, 25748298, 25768829, 25788221, 25789737, 25794603, 25806780, 25839886, 25865802, 25867272, 25884515, 25942671, 25944484, 25948295, 25962795, 26020488, 26037795, 26037941, 26061438, 26063764, 26070258, 26098773, 26105199, 26109403, 26138035, 26181250, 26181424, 26204954, 26208478, 26208524, 26218930, 26242321, 26286024, 26308130, 26340744, 26433819, 26440571, 26440707, 26447389, 26456083, 26498143, 26512791, 26518880, 26616061, 26630683, 26636909, 26659191, 26695089, 26743513, 26790143, 26811525, 26815318, 26857260, 26863566, 26924126, 26940938, 26946529, 26978007, 26983408, 26984388, 26999478, 27020391, 27111917, 27115320, 27124486, 27138260, 27141983, 27151331, 27172483, 27203149, 27246822, 27327499, 27335285, 27336602, 27341594, 27354627, 27470608, 27480103, 27488807, 27490749, 27540956, 27613168, 27624900, 27666765, 27684455, 27754804, 27759578, 27776019, 27790766, 27863085, 27863476, 27892777, 27991907, 28002643, 28005274, 28058658, 28086948, 28098866, 28129674, 28130756, 28162869, 28188228, 28199980, 28216139, 28217853, 28221865, 28252479, 28255850, 28278423, 28374234, 28396940, 28408301, 28412591, 28424234, 28429064, 28472075, 28475671, 28501764, 28526719, 28537004, 28594589, 28599981, 28601879, 28640105, 28659148, 28719152, 28738051, 28800030, 28835379, 28851815, 28861837, 28879519, 28953887, 28963614, 28963969, 28991513, 28994264, 29076950, 29149136, 29179510, 29195116, 29215399, 29232305, 29266761, 29309612, 29324592, 29336315, 29356698, 29356790, 29360604, 29470725, 29483107, 29552321, 29554022, 29558679, 29599670, 29721178, 29721378, 29750749, 29794999, 29846702, 29903896, 29926184, 29932306, 29956724, 30009647, 30018526, 30036146, 30053905, 30096703, 30120967, 30145328, 30154763, 30169430, 30181812, 30216522, 30252580, 30254376, 30275021, 30315274, 30344946, 30376464, 30383722, 30410366, 30430609, 30501565, 30539505, 30546944, 30588020, 30601209, 30605822, 30621779, 30652516, 30662871, 30690294, 30690710, 30765391, 30799646, 30824584, 30833419, 30925943, 30944613, 30972290, 30977659, 30977681, 31050693, 31058079, 31058533, 31082388, 31095039, 31112348, 31165342, 31166680, 31171876, 31180164, 31205066, 31205512, 31213499, 31260118, 31260421, 31383874, 31415669, 31437754, 31473636, 31527213, 31532537, 31580832, 31664762, 31672856, 31675726, 31727009, 31744895, 31754963, 31790307, 31804055, 31809326, 31817189, 31817473, 31833840, 31840683		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35577105	Associate	★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	19383316, 23211290		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	14616967		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	23583981		★☆☆☆☆ Found in Text Mining only
Mixed oligoastrocytoma	Oligoastrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	24767862		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	16799476, 17685465, 21768778, 23539450, 23941441, 25360634, 26319365, 27009410, 29974407, 33712927, 34142226, 36070149, 36419139	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	21704278, 30208863	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	16523510, 16825433, 18039235, 18413255, 19206169, 23875798, 4386970, 5771505		★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	15141374, 15703832, 17143472, 22226571, 22522845, 23648460, 28429715		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	14743508		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	29556019		★☆☆☆☆ Found in Text Mining only
mucosal melanoma	Mucosal Melanoma	BEFREE	21750866, 23633454, 23860532, 25867272, 28485171, 28543798, 31581559		★☆☆☆☆ Found in Text Mining only
Mucositis	Mucositis	Pubtator	37358854	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	16523510, 16825433, 18039235, 18413255, 19206169, 23875798, 4386970, 5771505		★☆☆☆☆ Found in Text Mining only
Multiple lentigines	Multiple lentigines	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	14616967, 21430775, 21910720, 23612012, 23928771, 25794135, 25894462, 26071465, 26090869, 27641727, 28427158, 28504689, 29807803, 30583070, 30635632, 31628267, 31709194		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	21430775, 21910720, 24335104, 24434212, 25794135, 25894462, 26090869, 27458004, 27634910, 27863261, 28380360, 28385781, 29563506, 29654269, 29884741, 29895955, 30201956, 30846494, 31988198, 32043788, 32747568, 34518309, 35045690, 35396243, 35978321, 36608320, 37059834, 37212518, 37452600, 38035078	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	CLINVAR_DG	26619011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple nevi	Multiple Nevi	BEFREE	24942556, 25651238		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	32750121	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	34308699	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	34936247	Associate	★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	17273161, 24470512		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	36754028	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	22169110, 26202951, 26615134		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	CLINVAR_DG	24446311, 25157968		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorder Chronic with Eosinophilia	Myeloproliferative disorder	Pubtator	24938183	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	29027536	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	37922948	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	LHGDN	18329792		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	18329792		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	19012001, 31664962		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	25963410, 31664962	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nausea	Nausea	Pubtator	27283860	Associate	★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	23486431, 31781502		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasm of the anterior pituitary	Brain Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12438234, 12447372, 12460918, 12460919, 12644542, 12692057, 12810628, 12819933, 12881714, 12893203, 12918080, 14500346, 14513361, 14534542, 14612909, 14654916, 14668801, 14695993, 14722037, 14724583, 14764072, 14961576, 14991899, 14996725, 15093535, 15118616, 15145515, 15150094, 15161700, 15191558, 15195111, 15221372, 15272920, 15273715, 15277467, 15342696, 15356020, 15386408, 15466181, 15475429, 15489648, 15547749, 15578519, 15657897, 15687339, 15702478, 15729718, 15781657, 15791479, 15842051, 15920555, 15965430, 15980887, 16007118, 16015629, 16024606, 16096377, 16098042, 16143123, 16174717, 16181240, 16199894, 16231316, 16256179, 16299399, 16354196, 16371460, 16403224, 16404419, 16413100, 16417231, 16421887, 16424035, 16434896, 16462768, 16540682, 16601293, 16647948, 16687919, 16699497, 16721785, 16728573, 16772349, 16804544, 16806438, 16809487, 16858683, 16880785, 16888631, 16917802, 16918957, 16937524, 16981189, 16983703, 16988471, 17044028, 17060774, 17065421, 17065427, 17086168, 17119056, 17119447, 17143472, 17145850, 17159915, 17179987, 17183069, 17227125, 17251336, 17270239, 17301836, 17309670, 17311103, 17374713, 17409805, 17453358, 17487504, 17488796, 17520704, 17535994, 17545526, 17592266, 17606714, 17621591, 17685465, 17690212, 17717450, 17721188, 17785355, 17786355, 17868408, 17891237, 17911174, 17914558, 17974567, 18061181, 18068703, 18070147, 18098337, 18172288, 18208804, 18226854, 18235983, 18287029, 18310286, 18310287, 18323787, 18339680, 18347137, 18374154, 18375819, 18381570, 18393366, 18398503, 18428050, 18435933, 18451171, 18470905, 18483309, 18502330, 18508762, 18509361, 18517279, 18559533, 18583391, 18594528, 18615680, 18616678, 18628431, 18644254, 18718023, 18757405, 18778891, 18794153, 18834226, 18840924, 18949058, 18953432, 18974108, 18980976, 18985043, 18987552, 18992635, 19001320, 19010816, 19010912, 19016743, 19037234, 19048115, 19078957, 19079609, 19088048, 19107232, 19127559, 19152441, 19156774, 19169486, 19187764, 19190079, 19194051, 19200582, 19226609, 19241144, 19276360, 19342899, 19355825, 19358278, 19370421, 19373855, 19383313, 19383812, 19401449, 19404844, 19414674, 19440799, 19492075, 19498322, 19550369, 19572146, 19582761, 19603024, 19626635, 19637313, 19690194, 19710001, 19788444, 19794125, 19806185, 19852742, 19861408, 19883729, 19884549, 19884556, 19893009, 19893451, 19895341, 19908233, 19919630, 19919912, 19936769, 19959686, 20008640, 20023270, 20068183, 20130576, 20138116, 20157537, 20171085, 20177422, 20186005, 20200438, 20233623, 20303012, 20393746, 20401974, 20444249, 20471663, 20473281, 20473912, 20492682, 20494973, 20498063, 20501503, 20519626, 20526288, 20529342, 20538618, 20551059, 20551065, 20569675, 20570909, 20587665, 20587792, 20616015, 20631031, 20635392, 20640859, 20655395, 20670148, 20679910, 20718682, 20730472, 20802181, 20807807, 20818844, 20853079, 20854070, 20857202, 20950194, 20953721, 20975100, 21045797, 21049459, 21081656, 21118047, 21125676, 21131838, 21136228, 21140203, 21166657, 21190444, 21220306, 21224857, 21228335, 21245089, 21249150, 21251612, 21274671, 21274720, 21283802, 21295327, 21340604, 21355020, 21362302, 21383284, 21393075, 21398618, 21426297, 21447722, 21447745, 21447798, 21456008, 21483012, 21483104, 21502544, 21503581, 21505227, 21505228, 21514245, 21516079, 21520036, 21526955, 21547907, 21587258, 21615881, 21636552, 21638088, 21660972, 21674991, 21712828, 21788563, 21796150, 21803329, 21803746, 21818706, 21826673, 21829508, 21862261, 21868474, 21879273, 21909080, 21926912, 21932420, 21953887, 21960311, 21997758, 22007921, 22012135, 22015552, 22020736, 22038996, 22039425, 22043994, 22048237, 22072557, 22082607, 22091682, 22130161, 22136270, 22147942, 22150560, 22156613, 22157620, 22167334, 22178589, 22180178, 22180495, 22189472, 22189819, 22190222, 22192803, 22194995, 22203991, 22210186, 22210875, 22228154, 22231762, 22235286, 22241789, 22282467, 22302899, 22305241, 22314188, 22317887, 22335197, 22351689, 22355009, 22356324, 22361037, 22368298, 22382362, 22393095, 22398042, 22426956, 22427190, 22430208, 22448344, 22473155, 22488961, 22492957, 22500044, 22508672, 22508706, 22514085, 22522845, 22529031, 22558328, 22569004, 22576211, 22584957, 22649091, 22675538, 22706026, 22710963, 22753589, 22770943, 22772867, 22773565, 22786759, 22796458, 22799316, 22805292, 22808163, 22820660, 22833083, 22850568, 22855362, 22869096, 22871572, 22898351, 22899730, 22906202, 22909976, 22912864, 22918165, 22925370, 22930283, 22930785, 22932786, 22945644, 23026937, 23031422, 23041829, 23055340, 23055546, 23069660, 23082737, 23089489, 23096133, 23104212, 23125007, 23131393, 23153539, 23157614, 23161556, 23171796, 23179992, 23186780, 23188063, 23192464, 23192956, 23204132, 23211222, 23211290, 23219067, 23224067, 23233388, 23249108, 23253715, 23278430, 23302800, 23306863, 23307859, 23319808, 23341544, 23343956, 23348904, 23359345, 23369684, 23375249, 23401454, 23403819, 23413975, 23416158, 23429431, 23435618, 23442159, 23444215, 23447565, 23454771, 23496275, 23528057, 23533235, 23553055, 23578570, 23579212, 23579220, 23594689, 23603816, 23608920, 23612919, 23615632, 23624923, 23633454, 23650027, 23650282, 23657789, 23682579, 23702733, 23754825, 23756728, 23770823, 23775351, 23782679, 23791006, 23792567, 23796270, 23797723, 23800934, 23812671, 23821377, 23822828, 23825589, 23831555, 23833040, 23833299, 23833303, 23845288, 23852164, 23875912, 23878352, 23880961, 23883275, 23888072, 23918947, 23925579, 23927882, 23931769, 23962701, 23965740, 23976959, 23988622, 23993026, 23996432, 24004175, 24023633, 24025253, 24025413, 24047116, 24055054, 24071017, 24108467, 24112392, 24136889, 24139215, 24157612, 24200692, 24202393, 24244575, 24247620, 24248188, 24248543, 24252190, 24255086, 24258977, 24259661, 24263065, 24265152, 24265153, 24265397, 24293293, 24297085, 24297791, 24316730, 24321241, 24325952, 24328865, 24335665, 24336570, 24339949, 24345274, 24352080, 24352648, 24367680, 24388723, 24390240, 24402044, 24413374, 24413733, 24417340, 24422853, 24424304, 24432405, 24434431, 24440976, 24448365, 24463458, 24468978, 24475086, 24489105, 24495477, 24497953, 24498230, 24503755, 24504448, 24508103, 24529209, 24548081, 24548858, 24549591, 24549645, 24557434, 24559116, 24559275, 24569374, 24576830, 24583796, 24588908, 24602025, 24604154, 24604709, 24612623, 24625416, 24625733, 24631158, 24633422, 24651527, 24654752, 24658074, 24667377, 24677749, 24679337, 24711431, 24717435, 24720374, 24721322, 24722974, 24725538, 24737664, 24742923, 24746198, 24746704, 24748129, 24752710, 24764675, 24767862, 24777145, 24780046, 24815010, 24821190, 24823863, 24839220, 24857351, 24858661, 24858900, 24859340, 24873948, 24885062, 24888229, 24894811, 24915895, 24918610, 24925349, 24928083, 24928946, 24947927, 24955518, 24958825, 24964758, 24978326, 24994118, 24997156, 25005754, 25009008, 25023548, 25026375, 25035100, 25037139, 25043693, 25051202, 25068661, 25069797, 25073438, 25073704, 25096573, 25097033, 25117819, 25120816, 25137394, 25139339, 25145427, 25148236, 25165098, 25174976, 25176643, 25182956, 25188864, 25204436, 25213729, 25229773, 25239454, 25248381, 25257576, 25262966, 25266729, 25266736, 25280751, 25297634, 25305506, 25320006, 25326232, 25337709, 25351955, 25361982, 25363723, 25366782, 25376477, 25381152, 25395067, 25411185, 25420993, 25426645, 25450274, 25454717, 25456393, 25456905, 25456953, 25475572, 25486195, 25517872, 25523300, 25532759, 25537510, 25538079, 25544599, 25556681, 25557234, 25569434, 25576161, 25576527, 25576899, 25581727, 25587051, 25593071, 25602801, 25619724, 25624498, 25624727, 25632202, 25641339, 25663779, 25666295, 25667294, 25673644, 25705882, 25712893, 25734426, 25742786, 25742883, 25744437, 25752325, 25767210, 25770162, 25784606, 25787243, 25795007, 25797743, 25807549, 25814520, 25825052, 25837167, 25862786, 25862899, 25863487, 25865802, 25873177, 25882744, 25884297, 25885250, 25886620, 25888143, 25890285, 25891304, 25899310, 25918287, 25924923, 25929517, 25937573, 25952101, 25975986, 25976257, 25976417, 25980594, 25981859, 26004768, 26014474, 26020488, 26023796, 26027934, 26028035, 26030480, 26045855, 26047064, 26053201, 26055532, 26058727, 26068635, 26083553, 26095797, 26098773, 26106602, 26120069, 26121270, 26125698, 26145173, 26146664, 26153495, 26160848, 26160882, 26175403, 26177218, 26181250, 26181352, 26181555, 26187617, 26191315, 26197800, 26202952, 26204954, 26208478, 26210887, 26214416, 26216840, 26222501, 26226847, 26264609, 26268700, 26271724, 26286452, 26286966, 26299806, 26308130, 26314551, 26317169, 26322950, 26324360, 26330075, 26333016, 26341080, 26341689, 26347528, 26354077, 26365896, 26366702, 26376781, 26377147, 26378811, 26384642, 26386083, 26407762, 26422023, 26425792, 26440571, 26440707, 26446943, 26448939, 26471487, 26476272, 26476438, 26498038, 26498143, 26500331, 26508523, 26513490, 26521063, 26527521, 26527776, 26553611, 26563980, 26566875, 26569424, 26575115, 26577700, 26577839, 26600396, 26613644, 26614903, 26620497, 26636651, 26636909, 26643848, 26648069, 26673799, 26681025, 26690310, 26691448, 26703469, 26710756, 26711128, 26715644, 26716505, 26731560, 26732095, 26744350, 26780618, 26784937, 26790143, 26790525, 26795218, 26807515, 26810733, 26835544, 26836975, 26843041, 26851802, 26861657, 26868125, 26871894, 26889698, 26892443, 26892809, 26910217, 26910224, 26914762, 26924424, 26943032, 26943572, 26950846, 26951110, 26969876, 26977879, 26988245, 26993606, 27000992, 27009213, 27009410, 27015517, 27022117, 27026089, 27036313, 27037411, 27041702, 27045886, 27048246, 27058664, 27071922, 27095081, 27101548, 27103403, 27137746, 27138882, 27167340, 27173027, 27184112, 27192168, 27192392, 27194447, 27195424, 27196754, 27246726, 27264268, 27299180, 27299298, 27301828, 27305845, 27312529, 27329244, 27338362, 27342857, 27355330, 27363650, 27382031, 27387551, 27403706, 27404270, 27410688, 27411517, 27439913, 27443823, 27454941, 27460453, 27462868, 27488807, 27490749, 27500726, 27540971, 27541170, 27566022, 27599148, 27672042, 27681305, 27682157, 27688185, 27718012, 27718322, 27722750, 27739435, 27750022, 27764839, 27769870, 27770401, 27785980, 27799506, 27813511, 27818286, 27821793, 27827301, 27834212, 27856123, 27863476, 27905182, 27922010, 27943100, 27943267, 27956538, 27984673, 27984807, 27991907, 28006055, 28012356, 28034324, 28043156, 28052407, 28062673, 28067894, 28068936, 28089569, 28097409, 28106277, 28125730, 28129674, 28173755, 28181325, 28184012, 28201752, 28205616, 28210881, 28214977, 28223103, 28230016, 28232477, 28263973, 28267273, 28281551, 28293477, 28297625, 28323782, 28329426, 28339824, 28342873, 28357489, 28373167, 28376479, 28378527, 28399112, 28423600, 28438258, 28445254, 28448514, 28463756, 28486044, 28488545, 28502101, 28512244, 28521461, 28523274, 28527094, 28529577, 28535990, 28542846, 28543997, 28544821, 28549037, 28573495, 28575350, 28595137, 28600969, 28608265, 28611198, 28614815, 28623774, 28631135, 28645720, 28646474, 28652147, 28664346, 28666074, 28712098, 28734796, 28753606, 28765887, 28767374, 28772138, 28783725, 28784858, 28789361, 28806393, 28808756, 28826720, 28851300, 28853696, 28875621, 28877062, 28884748, 28921583, 28928360, 28940307, 28953955, 28957395, 28963969, 28983557, 28984520, 28986151, 28990704, 28992761, 28994108, 28994264, 29037218, 29052598, 29059158, 29078205, 29084603, 29097618, 29109980, 29115941, 29117359, 29133617, 29133622, 29141672, 29148538, 29161986, 29165662, 29167892, 29169325, 29187018, 29222604, 29227333, 29229995, 29235923, 29243224, 29243287, 29254887, 29271794, 29306042, 29341452, 29348459, 29360643, 29362371, 29368294, 29370526, 29371951, 29374690, 29380516, 29387237, 29388014, 29389234, 29393387, 29409465, 29413057, 29461827, 29481492, 29483107, 29487011, 29505523, 29538669, 29540830, 29541220, 29546640, 29547721, 29560564, 29564591, 29566452, 29568398, 29579319, 29596542, 29610281, 29615337, 29621181, 29624782, 29635968, 29650750, 29651624, 29654229, 29660527, 29675807, 29684045, 29694444, 29701169, 29707525, 29708446, 29721178, 29721378, 29723601, 29739364, 29750335, 29752549, 29760222, 29767243, 29767751, 29768105, 29775310, 29778085, 29790124, 29799910, 29800258, 29843911, 29844307, 29855709, 29855806, 29868127, 29868707, 29873679, 29883838, 29886838, 29900672, 29903896, 29907857, 29928450, 29951919, 29970025, 29976257, 30013630, 30032208, 30036146, 30086073, 30087414, 30089785, 30094617, 30115691, 30120661, 30145148, 30146440, 30201332, 30220966, 30222203, 30233240, 30264293, 30281931, 30290811, 30294856, 30299387, 30327563, 30347273, 30348606, 30360391, 30383722, 30383888, 30388045, 30388256, 30394984, 30398411, 30407098, 30414980, 30417961, 30421554, 30429107, 30430609, 30442523, 30448733, 30482852, 30496796, 30504064, 30531837, 30546839, 30547202, 30551515, 30554192, 30557911, 30558563, 30562355, 30563872, 30575814, 30588251, 30636374, 30638691, 30640733, 30645670, 30662627, 30667539, 30672666, 30691046, 30693488, 30709805, 30728057, 30739334, 30765391, 30776432, 30792348, 30797497, 30799646, 30803557, 30809081, 30811720, 30826660, 30854646, 30889301, 30915113, 30924609, 30941953, 30952717, 30962505, 30977242, 31031216, 31034104, 31036005, 31039200, 31044426, 31050693, 31058079, 31059816, 31063649, 31070306, 31076580, 31087282, 31096111, 31116162, 31147230, 31147232, 31158244, 31181803, 31186280, 31190430, 31192863, 31217909, 31260118, 31262927, 31270153, 31296182, 31302002, 31305897, 31320305, 31324877, 31327063, 31339850, 31343420, 31362929, 31391014, 31426419, 31434983, 31440061, 31446019, 31446140, 31453322, 31454788, 31466300, 31555347, 31555583, 31571052, 31576556, 31581557, 31581559, 31602213, 31614548, 31622618, 31628267, 31630459, 31641949, 31646741, 31647501, 31664962, 31667545, 31672130, 31672856, 31673897, 31675726, 31677187, 31685033, 31723142, 31744894, 31762942, 31781475, 31781502, 31785018, 31796433, 31826931, 31826932		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CLINVAR_DG	15035987, 25157968		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	27350555, 28567600		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	23773459		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	26512791		★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	BEFREE	28640105		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	BEFREE	28640105		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	27943100, 31192863		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic Syndrome	Nephrotic Syndrome	LHGDN	17942568		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	28242136		★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, TYPE 3	Nephrotic Syndrome	BEFREE	17942568		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	36083130	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	BEFREE	21274720		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	23190154, 23224067, 26075701		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16417231, 21430505, 22135231, 22142829, 22972589, 23069660, 24823994, 26682952, 26825879, 27214302, 28069802		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma	Neuroblastoma	Pubtator	20564403, 20689758, 22142829, 33915956, 34331515, 37664946	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma	Neuroblastoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29100009, 36112425, 37115038	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28854169, 29624648		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	21862832		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	15842051, 15920555, 26434631, 26684240, 27048246, 31158244, 31557757		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	CTD_human_DG	17341847		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	26075701, 29162506		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	23190154, 26075701, 27427238, 29162506		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	19142971, 19794125, 21190184, 22892521, 23171796, 23190154, 23624918, 24117705, 25239601, 27427238, 29138945, 29162506, 30290804, 30569607, 30570705, 31151904		★☆☆☆☆ Found in Text Mining only
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME	Neurofibromatosis	BEFREE	27503857		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	18413802	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	24508103, 27283860, 28253394, 37358854	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	30043333		★☆☆☆☆ Found in Text Mining only
Neutropenia Nonimmune Chronic Idiopathic Adult	Neutropenia, nonimmune chronic idiopathic, adult	Pubtator	31841566	Associate	★☆☆☆☆ Found in Text Mining only
Nevi and Melanomas	Congenital melanocytic nevus syndrome	BEFREE	15811117, 16354196, 19919912, 23906414, 26997441		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	14708620, 15009715, 15373778, 15824163, 16354196, 16445780, 16845322, 17507627, 22549727, 23051629, 23413975, 23690527, 23861977, 24614711, 24695877, 25380183, 27009410, 27192168, 28753606, 28935960, 29476775		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	LHGDN	16123397, 16799476, 17507627		★☆☆☆☆ Found in Text Mining only
Nevus sebaceous	Epidermal nevus syndrome	BEFREE	25532942		★☆☆☆☆ Found in Text Mining only
Nevus Sebaceus of Jadassohn	Epidermal nevus syndrome	BEFREE	25532942		★☆☆☆☆ Found in Text Mining only
Nevus, Blue	Blue Nevus	BEFREE	21366456, 27934878		★☆☆☆☆ Found in Text Mining only
Nodular Goiter	Nodular Goiter	BEFREE	12881714, 15472223		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Melanoma	Melanoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CLINVAR_DG	12068308, 12460919, 14681681, 14688025, 15016963, 15035987, 15046639, 15753399, 17096326, 17119447, 17311103, 17314276, 18368129, 19206169, 19363522, 19383316, 19593635, 19794125, 19913317, 21190184, 21343559, 21716161, 22535154, 22892241, 23093928, 25157968		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12460918, 14601056, 17409805, 18757405, 19010912, 19584155, 19638574, 21102258, 21483012, 21514245, 21825258, 21900593, 22199339, 22433711, 22649091, 22845480, 23131393, 23328547, 23355004, 23656699, 23833300, 24297085, 24550319, 24552757, 24655544, 24844134, 24888229, 24947927, 24979348, 25198510, 25288236, 25450274, 25477108, 25706985, 25902737, 25928067, 26066373, 26118982, 26237499, 26301799, 26366557, 26623721, 26711930, 26752307, 26854464, 26960735, 27080216, 27196768, 27215271, 27283860, 27350555, 27388325, 27987587, 28135039, 28203297, 28383426, 28423582, 28487464, 28572536, 28625649, 28756651, 28926605, 28947956, 29057232, 29164615, 29216787, 29427662, 29467863, 29540830, 29587667, 29595366, 29662327, 29723688, 29729495, 29883838, 29949047, 29986755, 30019008, 30094711, 30105645, 30224342, 30268455, 30325992, 30335711, 30442523, 30642457, 30730779, 30744692, 30797497, 30883505, 30914465, 31060855, 31181537, 31250402, 31454018, 31470866, 31502118, 31579423, 31598903, 31715289, 31781475		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Non-Small Cell Lung Carcinoma	Lung carcinoma	CGI_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nongerminomatous Germ Cell Tumor	Nongerminomatous Tumor	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nongerminomatous Germ Cell Tumor	Nongerminomatous Tumor	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonmedullary Thyroid Carcinoma	Nonmedullary thyroid carcinoma	CTD_human_DG	27222248, 28030816		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	CLINVAR_DG	12692057, 15035987, 16439621, 16474404, 16953233, 17366577, 17603482, 17704260, 18039235, 18042262, 18060073, 18413255, 18456719, 18953432, 19206169, 19376813, 20523244, 22495831, 22892241, 23026937, 23093928, 24451042, 24803665, 26619011		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	CLINGEN_DG	17603482, 18456719, 19206169, 21784453, 23875798, 27521173		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	CTD_human_DG	17703371		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	BEFREE	18456719, 21784453, 21871821, 22725657, 22826437, 29084544, 31125963		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan syndrome	Pubtator	18854871, 19206169, 22465605, 23321623, 29084544, 38254922	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	GENOMICS_ENGLAND_DG	19206169, 21396583		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	ORPHANET_DG	19206169		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome 1	Noonan Syndrome	CTD_human_DG	17703371		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome 1	Noonan Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NOONAN SYNDROME 3	Noonan Syndrome	BEFREE	31167915		★☆☆☆☆ Found in Text Mining only
NOONAN SYNDROME 7	Noonan Syndrome	GENOMICS_ENGLAND_DG	16372351, 19206169, 21396583, 23875798, 28650561		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NOONAN SYNDROME 7	Noonan Syndrome	CLINVAR_DG	19206169		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NOONAN SYNDROME 7	Noonan Syndrome	UNIPROT_DG	19206169		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NOONAN SYNDROME 7	Noonan Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome with multiple lentigines	Noonan syndrome with multiple lentigines	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome-like disorder with loose anagen hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Noonan-Like Syndrome With Loose Anagen Hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23539450, 29752338	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	15904951, 28378457	Associate	★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	24993163, 29103753		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	22568401, 22591444, 23082883, 25794445, 26957305, 31630459		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	22568401, 31630459, 34355449	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	35961969	Associate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal Neoplasm	BEFREE	29546640		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30268473		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	12644542, 12893203, 17309670, 24889043		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	24889043, 27153872, 29044863		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	18458053, 19349352, 19955937, 22039425, 29489407, 39754905	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CLINVAR_DG	12068308, 19018267, 20818844, 21639808, 21683865, 21975775, 22608338, 22798288, 25157968		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	12893203, 18060073, 19018267		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	14991899, 15753399, 15904951, 16806438, 17258789, 17318013, 18779727, 19240718, 22271473, 22820660, 22930283, 26490654, 31146483		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15904951, 18060073, 19240718, 19430562, 19955937, 21216929, 22930283, 23774303, 24139521, 24307542, 24549645, 25188864, 25523272, 26197800, 26484411, 26506417, 27128903, 27141064, 28488545, 28734796, 28873354, 28992761, 29273082, 29620581, 29770477, 31030485, 31054497, 31395751, 31662533, 31902686, 32556513, 32822286, 32951896, 33043759, 33119140, 33252399, 34268919, 34568720, 34794740, 35443055, 36828346, 36867514, 36967525, 37169775, 37185420, 37522200, 38109210	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	12644542, 15475429		★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	25602792		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12969789, 14507635, 21734707, 26732095, 26927447, 29059158, 31769353		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic cyst	Pubtator	26253305, 32792597	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	BEFREE	26253305		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	19440799		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	14507635		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	24293293		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22226782, 24293293, 26314551, 26637773, 26996308, 28884748, 31070037, 31519698, 31769353, 32843432, 34476331, 34614142, 35949061, 36999792, 37364232, 37400141, 37923686, 38246222	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	LHGDN	18946221		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	26892442	Associate	★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	BEFREE	22250191, 25788221, 25839886, 26447389, 30939167		★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	Pubtator	30939167	Associate	★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	CTD_human_DG	24413733		★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	24413733, 25442675, 26498373, 26563980, 27903124, 28500561, 28506993, 28707994, 28840946, 29396598, 29509940, 30069716, 30074466, 30187175, 31200374		★☆☆☆☆ Found in Text Mining only
Papillary Meningioma	Papillary Meningioma	BEFREE	25116269		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	22727996		★☆☆☆☆ Found in Text Mining only
Papillary renal cell carcinoma, sporadic	Papillary renal carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	ORPHANET_DG	12670889, 17891228, 25069464, 25468810, 25489262, 25702102		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	12670889, 12697856, 12881714, 12907632, 12970315, 14508525, 14602780, 14743508, 14996725, 15001635, 15095090, 15102681, 15126572, 15145515, 15181070, 15186612, 15272920, 15273715, 15356020, 15356022, 15472223, 15515191, 15547711, 15613458, 15687339, 15714593, 15761501, 15859312, 15876153, 15899815, 15947103, 15968271, 15980887, 16021577, 16117812, 16143028, 16174717, 16181240, 16199894, 16268813, 16299399, 16365291, 16402937, 16452550, 16487015, 16501605, 16533790, 16551863, 16601293, 16676402, 16728573, 16753739, 16772349, 16784975, 16786134, 16858683, 16896265, 16918957, 16932068, 16983703, 17044028, 17054470, 17060774, 17131411, 17159251, 17179987, 17186541, 17199440, 17199737, 17210745, 17227125, 17298986, 17302867, 17308360, 17317825, 17317846, 17355635, 17374713, 17387744, 17415708, 17429154, 17464312, 17465858, 17488796, 17520704, 17535994, 17542667, 17638058, 17641411, 17685465, 17717450, 17721188, 17727338, 17785355, 17786355, 17824790, 17878251, 17891237, 17900235, 17972530, 18000091, 18055323, 18070147, 18202121, 18226854, 18235983, 18310286, 18310287, 18310288, 18347137, 18381570, 18382358, 18383861, 18393366, 18406659, 18426810, 18462259, 18470905, 18628356, 18676742, 18676765, 18682506, 18840924, 18925842, 18948674, 19010660, 19014278, 19040996, 19107232, 19147753, 19152441, 19156774, 19190105, 19194051, 19207009, 19208736, 19269016, 19355825, 19356676, 19370421, 19370505, 19414674, 19475551, 19487299, 19493000, 19493635, 19534622, 19534623, 19574281, 19626635, 19672964, 19693938, 19724843, 19850689, 19852742, 19861538, 19883729, 19958951, 20001715, 20009493, 20012784, 20042852, 20138116, 20186005, 20345340, 20369307, 20395530, 20406109, 20447069, 20470206, 20473281, 20498063, 20526288, 20578891, 20587665, 20607744, 20631031, 20637346, 20640859, 20647301, 20652698, 20718682, 20860430, 20924280, 20950194, 20951315, 20959410, 21049459, 21147872, 21160471, 21167555, 21175381, 21179278, 21220306, 21239517, 21249150, 21355020, 21385081, 21389096, 21412762, 21426297, 21431280, 21447745, 21449767, 21498916, 21512141, 21521301, 21537871, 21568726, 21594703, 21609347, 21638088, 21707687, 21716161, 21725210, 21730105, 21750338, 21774961, 21796448, 21798995, 21803329, 21862261, 21882184, 21900390, 21903858, 21909080, 21937738, 21948220, 22033631, 22105174, 22105775, 22118425, 22136270, 22150560, 22170714, 22181337, 22190222, 22335197, 22369373, 22376167, 22419100, 22426956, 22435913, 22457234, 22471241, 22488961, 22500044, 22504197, 22508706, 22514085, 22515292, 22524468, 22535643, 22535974, 22549559, 22549934, 22558328, 22563563, 22592144, 22605559, 22682753, 22691412, 22702340, 22728346, 22732794, 22745248, 22752848, 22767446, 22770943, 22855362, 22858857, 22887810, 22895275, 22918165, 22930660, 22930785, 22932786, 22973979, 22997209, 22998776, 23050789, 23055546, 23062653, 23066120, 23116250, 23128507, 23132790, 23132792, 23157614, 23158172, 23161556, 23179992, 23186006, 23192956, 23203004, 23253715, 23372702, 23404751, 23416953, 23436219, 23469895, 23482475, 23482591, 23489023, 23496275, 23513230, 23528368, 23533235, 23534744, 23544999, 23571588, 23580256, 23585181, 23594689, 23625203, 23690118, 23722226, 23725167, 23754825, 23766237, 23775351, 23788690, 23806056, 23833040, 23845288, 23846818, 23883275, 23893334, 23925579, 23931769, 23966419, 23969188, 23979959, 23981603, 23993207, 24004175, 24039206, 24052184, 24123003, 24124924, 24150898, 24228637, 24247620, 24248188, 24255086, 24267957, 24272599, 24295088, 24297791, 24301760, 24316730, 24327398, 24337906, 24354346, 24375266, 24382015, 24389984, 24402044, 24417277, 24417615, 24423287, 24442520, 24503805, 24548081, 24549591, 24559116, 24570209, 24588959, 24604709, 24612623, 24617711, 24633422, 24639117, 24677749, 24679337, 24711431, 24721322, 24746198, 24748129, 24770869, 24780046, 24787545, 24798740, 24810336, 24828987, 24838814, 24839220, 24848709, 24858900, 24862939, 24879726, 24893893, 24897065, 24954313, 24955518, 24978326, 24989827, 24992171, 25012490, 25014730, 25019383, 25024077, 25085839, 25123949, 25156883, 25194426, 25213729, 25228413, 25244593, 25266729, 25285888, 25312294, 25329702, 25332244, 25337709, 25353071, 25400776, 25427145, 25444226, 25448848, 25456953, 25456955, 25467940, 25468810, 25482468, 25549723, 25556681, 25616949, 25674762, 25698220, 25712893, 25755776, 25784606, 25837167, 25837309, 25870252, 25879531, 25882744, 25916409, 25922907, 25937618, 25957797, 25961545, 26003825, 26020381, 26041461, 26080065, 26120069, 26125698, 26148673, 26152656, 26154146, 26177218, 26191315, 26214416, 26230187, 26231782, 26232865, 26240026, 26268700, 26285789, 26296380, 26297257, 26314551, 26323637, 26338373, 26354351, 26362194, 26422023, 26448939, 26454140, 26457492, 26461266, 26477313, 26513490, 26521063, 26582795, 26584635, 26598713, 26625260, 26631873, 26636651, 26648183, 26649796, 26716505, 26727717, 26733165, 26749005, 26750533, 26780618, 26784937, 26795218, 26810418, 26818109, 26823846, 26823860, 26825960, 26835544, 26854757, 26863344, 26871894, 26884113, 26889698, 26910217, 26912807, 26914762, 26941397, 26943032, 26950846, 26951110, 26960768, 26971368, 27037835, 27058903, 27064992, 27127178, 27138882, 27145091, 27146414, 27151833, 27179656, 27180062, 27184112, 27236916, 27277113, 27299298, 27314298, 27314338, 27383045, 27410688, 27442672, 27460442, 27462868, 27484771, 27543599, 27554612, 27571181, 27581851, 27600854, 27618325, 27718012, 27738305, 27750022, 27758138, 27776688, 27793009, 27849443, 27863429, 27865374, 27866718, 27875244, 27911099, 27919446, 28004221, 28077340, 28150740, 28176151, 28258306, 28293988, 28329426, 28342873, 28347233, 28393212, 28423638, 28454296, 28490781, 28521635, 28529577, 28575350, 28580939, 28636673, 28646474, 28666074, 28680105, 28687160, 28687736, 28718951, 28772138, 28789361, 28808756, 28875621, 28974264, 29037127, 29067516, 29115628, 29132392, 29144823, 29165667, 29209896, 29228620, 29232305, 29240540, 29254799, 29269566, 29312581, 29427554, 29484992, 29516685, 29541194, 29549631, 29560564, 29566402, 29566452, 29567362, 29651624, 29737325, 29753010, 29762246, 29767243, 29768105, 29868127, 29868707, 29890543, 29895015, 29978611, 30009773, 30034553, 30065097, 30070937, 30210710, 30219154, 30254191, 30265861, 30294871, 30333891, 30352402, 30352403, 30361900, 30361901, 30396219, 30414980, 30449496, 30466862, 30472213, 30509240, 30534813, 30592330, 30620446, 30653166, 30682328, 30688735, 30788603, 30795755, 30819583, 30842597, 30867770, 30869573, 30875124, 30890403, 30896061, 30924609, 30988823, 30999281, 31031216, 31085763, 31085772, 31135058, 31181609, 31230400, 31252408, 31276506, 31300059, 31305422, 31305897, 31327063, 31439567, 31441082, 31452778, 31454788, 31455351, 31478162, 31497359, 31529211, 31540966, 31563816, 31658048, 31692513, 31758407, 31758408, 31810221		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary thyroid carcinoma	Papillary thyroid carcinoma	CTD_human_DG	27222248, 28030816		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary thyroid carcinoma	Papillary thyroid carcinoma	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papilledema	Papilledema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	24584270, 25788221, 27098388, 28488545, 29851866		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	28488545, 32362631	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	28043156		★☆☆☆☆ Found in Text Mining only
Paramyotonia Congenita (disorder)	Paramyotonia Congenita	BEFREE	24004175		★☆☆☆☆ Found in Text Mining only
Paresthesia	Paresthesia	Pubtator	40033809	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	24139521, 25319388, 30550608, 33552685, 34643739	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30137437		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34643739	Stimulate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	22554099		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	22628411, 25855536		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelvic Inflammatory Disease	Pelvic inflammatory disease	Pubtator	27105424	Associate	★☆☆☆☆ Found in Text Mining only
Pericardial Effusion	Pericardial effusion	Pubtator	36941018	Associate	★☆☆☆☆ Found in Text Mining only
Perineurioma	Perineurioma	BEFREE	20962618, 23588369, 31404377		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	26925640	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	20140953, 21285991, 21456008, 24307542, 24737664, 25886136, 27956538, 29037218, 31571052, 31774543, 32166754, 35696748	Associate	★☆☆☆☆ Found in Text Mining only
PHACE association	PHACE Association	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	26710756, 28043156		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	28162975, 40290304	Associate	★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	18716556, 18974108, 19363522, 19543740, 19667985, 19794125, 20044755, 20714900, 20919607, 20976706, 21046410, 21190184, 21228927, 21274720, 21403401, 21424530, 21518014, 21526954, 21610151, 21636552, 21696415, 21884820, 22157620, 22468817, 22568401, 22591444, 22617234, 22692287, 22710963, 23095836, 23160425, 23196000, 23278177, 23278243, 23439714, 23442159, 23624918, 23702730, 23893969, 24057326, 24238153, 24470550, 24532263, 24554201, 24767714, 24806303, 25040262, 25066317, 25382612, 25524464, 25664944, 25792358, 25794445, 25976257, 26026669, 26083571, 26115961, 26118895, 26222501, 26264609, 26378811, 26945035, 26957305, 27389560, 27792249, 28002790, 28009226, 28448514, 28880959, 29039591, 29141672, 29168690, 29768357, 29802359, 30013630, 30074494, 30265855, 30504064, 30570705, 30575814, 30963251, 31087282, 31147230, 31147232, 31228537, 31321520, 31329636, 31355086, 31427603, 31667545, 31673897		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilocytic Astrocytoma	Astrocytoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilomyxoid astrocytoma	Pilomyxoid Astrocytoma	ORPHANET_DG	18974108, 21190184, 22159586		★☆☆☆☆ Found in Text Mining only
Pilomyxoid astrocytoma	Pilomyxoid Astrocytoma	BEFREE	22157620, 24821190, 26886222		★☆☆☆☆ Found in Text Mining only
Pilomyxoid astrocytoma	Pilomyxoid Astrocytoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Pineal Gland Neoplasm	Pineal Gland Neoplasm	BEFREE	25976339		★☆☆☆☆ Found in Text Mining only
Pituitary Hormone Deficiency Combined 2	Pituitary hormone deficiency	Pubtator	28425764	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	17302867		★☆☆☆☆ Found in Text Mining only
Pleomorphic Xanthoastrocytoma	Pleomorphic Xanthoastrocytoma	BEFREE	21479234, 23756728, 24252190, 24321241, 24345274, 24857351, 24894018, 25318587, 25885250, 26238627, 26414224, 26445861, 26454767, 27253461, 27645472, 27792249, 27956254, 28181325, 28293477, 29152094, 29200156, 29763623, 29878245, 30120661, 30496796, 30972500, 31675726, 31748891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyarthritis	Polyarthritis	BEFREE	24815010		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	21697238	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	30305475	Associate	★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	16937524, 19126563, 26910894		★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	BEFREE	29406329		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	CLINVAR_DG	16439621, 16474404		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	26802240		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	15538400, 17525723		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	20523244		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	26790525		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	27138260		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16413100, 20303012, 22833462, 24283590, 25203299, 29650325		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	32740981	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	16413100, 19079609		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19725049, 20526349, 22981675, 24283590, 25189356, 25203299, 25735316, 25809148, 32158963, 32639612, 34211036, 35220606, 37084789, 37477913	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	25735316, 29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Protoplasmic astrocytoma	Protoplasmic Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	37867623	Associate	★☆☆☆☆ Found in Text Mining only
Psammomatous Meningioma	Psammomatous Meningioma	BEFREE	28358874		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	CLINVAR_DG	16439621, 16474404		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	BEFREE	21495173		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pyogenic granuloma	Pyogenic granuloma	BEFREE	26802240, 29406329		★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	19903786, 19913317, 20824716, 20947270, 21910869, 23592171, 25023548, 25624727, 25636897, 25973534, 26553611, 26714964, 28654634, 28801584, 29169325, 29362371, 29478127, 30035653, 31056731		★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	BEFREE	14688025, 19358278, 19903786, 21383284, 27198570, 29037218		★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	26014474		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12918080, 25602792, 26014474, 26333016		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	30842599		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30275021, 31527213		★☆☆☆☆ Found in Text Mining only
Reticulosarcoma	Reticulosarcoma	BEFREE	25787243, 26047060		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28646893		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	18068703, 21725359, 25894373, 26369631, 29541385		★☆☆☆☆ Found in Text Mining only
RETINOSCHISIS 1, X-LINKED, JUVENILE	Retinoschisis, X-Linked	BEFREE	29790124		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	27350555	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	32093631	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	25182956, 28069802		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	34755412	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	20843808, 23517740, 26814611, 29423085, 30062448, 31028510		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	25376477, 29900672	Associate	★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	BEFREE	20395089		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	BEFREE	27682157		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	32067683, 33135196	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	31612562		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	33312171	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	14691295, 21326296, 22779686, 24117833, 24720374, 25039578, 26200454, 26711930, 26825879, 27214302, 27341594, 30636374		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	23552385, 28692601, 28877062, 29570692, 30315274, 30459475, 32918774, 33850302, 34120511, 35546636, 35775707	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	3043188	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	29570692, 32238877, 37417899	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma, Spindle Cell	Sarcoma	BEFREE	28877062		★☆☆☆☆ Found in Text Mining only
Sclerosis	Sclerosis	Pubtator	34246179	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary Adrenal Insufficiency	Adrenal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	18669866, 19001320, 19603018, 19603024, 19738388, 19935791, 20049644, 20177422, 20413299, 20485284, 20619672, 20709651, 20857202, 20947270, 21129603, 21289333, 21424126, 21456008, 21502544, 21506124, 21516079, 21729677, 21807639, 21960311, 22228631, 22773565, 23033302, 23098991, 23125007, 23197490, 23324806, 23429431, 23497191, 23613396, 23615046, 23666916, 23776587, 23959273, 24138831, 24390240, 24500755, 24585723, 24659028, 24666267, 24691006, 24737664, 24755613, 24798160, 24806288, 24833563, 25069797, 25119972, 25139339, 25183481, 25337237, 25589621, 25666295, 25865669, 25918280, 25942399, 25989278, 26121270, 26153495, 26184520, 26325103, 26392102, 26460303, 26467662, 26575603, 26615988, 26714964, 26775732, 26861657, 26925650, 26989027, 27037411, 27261210, 27314237, 27341594, 27358379, 27382031, 27722750, 27729313, 27738330, 27764839, 27770002, 27856123, 27863403, 27956538, 28068936, 28223103, 28463756, 28486044, 28595137, 28659148, 28692881, 28972961, 29037218, 29045518, 29045527, 29100436, 29111094, 29129559, 29370781, 29380640, 29450468, 29588308, 29703606, 29707525, 29846100, 29872151, 29873679, 29959022, 30036739, 30120161, 30145148, 30412858, 30476968, 30559073, 30562355, 30638691, 30662270, 30922269, 30952563, 30968289, 31036005, 31047861, 31068650, 31070306, 31183866, 31219603, 31265477, 31330487, 31339850, 31347092, 31353365, 31474758, 31482595, 31500586, 31515458, 31571052, 31571151, 31597339, 31783291, 31840683		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	23941441, 27984807, 31217210, 35130969, 35524774, 38269481	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	15386408, 16354586, 27886677		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Serous cystadenocarcinoma ovary	Ovarian Serous Cystadenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	CTD_human_DG	26551667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	17824790	Associate	★☆☆☆☆ Found in Text Mining only
Sinus histiocytosis	Sinus Histiocytosis	BEFREE	29428455, 30014527		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	Pubtator	36923612	Associate	★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	20570909, 30802229		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	23987572, 25330907, 28455460, 34946284, 36083130, 37534686	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	19342899, 20883818, 23844038, 24661317, 25351766, 25752368, 26319365, 26454140, 27098388, 28455460, 28861837		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	16687919, 22096025, 24112647, 24943872, 26360803, 30374901		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	24943872	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders Circadian Rhythm	Sleep disorder	Pubtator	22039425, 34877621	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	18757405		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	16810323, 26581482	Associate	★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	29915264, 30187985		★☆☆☆☆ Found in Text Mining only
Somatotrophinoma, Familial	Somatotroph adenoma	BEFREE	29915264		★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	36448195	Associate	★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	35484883	Associate	★☆☆☆☆ Found in Text Mining only
Split hand foot deformity 1	Split hand foot deformity	BEFREE	22879539, 23597965, 24671772, 24894769, 25003820, 25150293, 25324352, 25422482, 25744785, 25865950, 26110571, 26466952, 26785805, 26858028, 27506209, 27863426, 27940476, 28182116, 28253394, 28455460, 28553668, 29188284, 29485431, 29565699, 29736852, 29930009, 30120160, 30265230, 30474563, 30630516, 31015311, 31259822, 31639332, 31685033, 31740567		★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12879021		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17360030, 19342899, 20881644, 21825258, 22256804, 22294102, 22726224, 23274581, 23369684, 23844038, 24112647, 24297085, 24943872, 25788221, 26319365, 28556451, 28796396, 29799097, 30474875, 30552700, 31261023		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23207070, 23274581, 24999713, 25691283		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19178815, 20813562, 25234657, 25980437, 29772524, 32381551, 36522371, 36916400	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lip	Carcinoma of Lip	BEFREE	26084614		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	17409805, 23499398, 24158231, 28252478, 29599344, 30279110		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	19342899, 24170769, 24641301, 25185693, 25724524, 25748298, 27141983, 27558455, 27632801, 28129674, 29137342, 29939876, 30154763		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	12879021, 19178815, 23670291		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Stage IV Skin Melanoma	Skin Melanoma	BEFREE	17518771, 22293660, 23026937, 24586605, 25145427, 25265492, 25746037, 26037941, 26138035, 26636909, 26659191, 26984388, 27480103, 28252479, 28475671, 28601879, 29215399, 30690294, 30690710, 31058533, 31672856, 31754963		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	15551306		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	14534542, 14668801, 15616773, 23511561, 26054683, 30045926		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	14534542, 17548320		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23511561, 24774510, 25794798, 26538087, 26811494, 27437872, 32269290, 34884530	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	BEFREE	25346165		★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Supratentorial Neoplasms	Supratentorial Neoplasm	BEFREE	25066317		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syringocystadenoma Papilliferum	Papillary Syringocystadenoma	GENOMICS_ENGLAND_DG	19206169		★☆☆☆☆ Found in Text Mining only
Syringocystadenoma Papilliferum	Papillary Syringocystadenoma	BEFREE	25532942, 26360803, 30398985		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	20853079, 31048548		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	25039399		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	16354586, 27153176	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	26197800	Associate	★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia	Thrombasthenia	Pubtator	32604167	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	28253394	Associate	★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	22417847		★☆☆☆☆ Found in Text Mining only
Thymus Neoplasms	Thymus Neoplasms	BEFREE	24703101		★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	17717450, 23766237, 24617711	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	18383861	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	15181454, 15195111, 15515191, 15968271, 15980887, 16365291, 16555619, 16896265, 16983703, 17060774, 17227125, 17355635, 17387744, 17429154, 17464312, 17685465, 17717450, 17727338, 17824790, 17972530, 18383861, 18470905, 18676742, 18840924, 19066305, 19147753, 19152441, 19194051, 19414674, 19487299, 19500021, 20473281, 20526288, 20959410, 21167555, 21179278, 21190444, 21191179, 21358618, 21412762, 21498916, 21537871, 21909080, 21937738, 22118425, 22241789, 22457234, 22471242, 22524468, 22549934, 22558328, 22563563, 22605559, 22681706, 22732794, 22887810, 22918165, 22973979, 22998776, 23050789, 23062653, 23132792, 23158172, 23192956, 23436219, 23489023, 23534744, 23571588, 23580256, 23590130, 23687957, 23691506, 23725167, 23746767, 23766237, 23775351, 23833040, 23845288, 23883275, 23931769, 23979959, 24039206, 24094449, 24124924, 24150898, 24228637, 24267957, 24297791, 24301760, 24402044, 24423287, 24559116, 24588959, 24617711, 24639117, 24673746, 24798740, 24810336, 24863948, 24879726, 24947099, 24955518, 25019383, 25024077, 25156883, 25329702, 25332244, 25337709, 25353071, 25378232, 25400776, 25417114, 25499223, 25674762, 25712893, 25755776, 25755913, 25784606, 25837167, 25879531, 25882744, 25922907, 25937618, 26020381, 26080065, 26107686, 26125698, 26177218, 26191315, 26230187, 26240026, 26258321, 26314551, 26323637, 26354351, 26392334, 26448939, 26457492, 26461266, 26487287, 26506214, 26582795, 26604858, 26631873, 26632889, 26649796, 26715280, 26716505, 26727717, 26733165, 26735176, 26749005, 26786320, 26810418, 26818109, 26823846, 26823860, 26884113, 26910217, 26943032, 26950846, 26959890, 26960768, 26961557, 27037835, 27058903, 27064992, 27071483, 27127178, 27236916, 27264674, 27277113, 27314298, 27387551, 27409830, 27410688, 27442672, 27447554, 27459529, 27460442, 27538953, 27568671, 27689252, 27713418, 27834723, 27875244, 27936049, 28031237, 28052655, 28077340, 28150740, 28237867, 28257096, 28347233, 28423545, 28423638, 28469731, 28490781, 28493027, 28507274, 28580939, 28636673, 28680105, 28687736, 28805135, 28875621, 28974238, 29070763, 29117154, 29132392, 29165667, 29165687, 29199726, 29214440, 29240540, 29316976, 29582677, 29808165, 29868707, 29901149, 29962924, 29976183, 29978611, 30036146, 30070937, 30200646, 30209893, 30254191, 30262749, 30265861, 30361900, 30361901, 30498021, 30501571, 30509240, 30534813, 30552739, 30572540, 30620446, 30632125, 30635590, 30653166, 30654714, 30664823, 30666518, 30694737, 30705367, 30786705, 30867499, 30903583, 30916166, 30916170, 30940124, 31021028, 31085763, 31135058, 31300059, 31305422, 31307429, 31375570, 31407636, 31439567, 31452453, 31455351, 31533501, 31658048, 31758407, 31758408, 31766881, 31841566, 31970877, 31994851, 32053670, 32132976, 32184420, 32187423, 32216548, 32273326, 32315324, 32347351, 32393293, 32468074, 32593310, 32606114, 32671901, 32945494, 32995956, 33094920, 33198784, 33200656, 33305405, 33305870, 33327467, 33382403, 33402480, 33466206, 33469997, 33495189, 33578538, 33653337, 33677931, 33677934, 33879712, 33912138, 34033285, 34072194, 34104084, 34156770, 34201607, 34256769, 34273152, 34302727, 34307677, 34318534, 34319022, 34394248, 34613404, 34644010, 34645125, 34678881, 34742355, 34792302, 34806478, 34851044, 34897468, 35123502, 35135184, 35197932, 35282462, 35332119, 35366462, 35397361, 35473554, 35515000, 35527993, 35556126, 35646190, 35651980, 35733781, 35748101, 35757399, 35775861, 35779272, 35780657, 35784548, 35865315, 35879379, 35951496, 35961219, 35977347, 35992139, 36150036, 36217175, 36253446, 36331719, 36427494, 36510281, 36578953, 36579983, 36611933, 36613940, 36624452, 36696026, 36750791, 36768841, 36835466, 36843593, 37003481, 37072862, 37124750, 37146205, 37198319, 37219859, 37236546, 37307878, 37361050, 37364156, 37382944, 37446330, 37454141, 37461149, 37519275, 37537230, 37569841, 37752023, 37884333, 37916932, 38047112, 38062767, 38113409, 38155379, 38218832, 38241570, 38282867, 39288226, 39316756, 39342349, 39793164, 40018022, 40028210, 40033809, 40050757, 40338900, 40394531, 40423510, 40597144	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	35748101	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	38044137	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	BEFREE	17717450, 20718682		★☆☆☆☆ Found in Text Mining only
THYROID CANCER, NONMEDULLARY, 2	Thyroid cancer	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	12670889, 12970315, 14508525, 14996725, 15126572, 15195111, 15272920, 15356020, 15356022, 15630448, 15687339, 16533790, 16551863, 16772349, 16784975, 16940797, 17054470, 17179987, 17363500, 17387744, 17545628, 17714762, 17717450, 17854396, 17878251, 17891249, 17891251, 17911174, 17972530, 18032931, 18043251, 18310287, 18381570, 18383861, 18426810, 18458053, 18462259, 18502330, 18697864, 19147628, 19156774, 19356676, 19487299, 19493000, 19850689, 19878585, 19880792, 20142332, 20230995, 20498063, 20637346, 20714830, 20840674, 20926530, 21048359, 21142662, 21147872, 21167555, 21185263, 21351275, 21355020, 21383698, 21412762, 21447745, 21455199, 21526955, 21795305, 21803329, 21826673, 21878896, 22012135, 22105174, 22105775, 22118425, 22442268, 22504197, 22535974, 22583421, 22694820, 22858857, 23088640, 23161556, 23192464, 23298138, 23372702, 23427907, 23435375, 23496275, 23533233, 23559083, 23658295, 23668556, 23746767, 23766237, 23775351, 23792105, 23833040, 23931930, 24161954, 24164374, 24243688, 24248188, 24295088, 24362526, 24382015, 24400871, 24442520, 24446739, 24588959, 24617711, 24639117, 24677749, 24811481, 24828987, 24873948, 24897065, 24927793, 24955518, 25029414, 25120313, 25244593, 25262966, 25266729, 25285888, 25333496, 25467940, 25576899, 25862858, 25879531, 25894433, 25926393, 25961545, 26187369, 26230187, 26258321, 26265449, 26314551, 26384551, 26384552, 26403329, 26456083, 26543077, 26584635, 26597052, 26625260, 26711586, 26732095, 26733501, 26751190, 26818109, 26857243, 26884114, 26943572, 27037835, 27058903, 27145091, 27179656, 27264674, 27484771, 27618325, 27689252, 27696232, 27754804, 27863429, 27880942, 27886677, 28201758, 28258306, 28910386, 29033690, 29269566, 29293907, 29435002, 29487290, 29579361, 29593792, 29616135, 29737325, 29805692, 29868707, 29969659, 30024548, 30036146, 30256977, 30398411, 30481266, 30531837, 30760304, 30768848, 30863114, 31097454, 31229486, 31289571, 31322645, 31412566, 31529211, 31540406		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CTD_human_DG	16940797, 19878585, 21185263, 26751190, 30621213, 30935902		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	15195111, 15980887, 17453004, 19487299, 23746767, 23775351, 24673746, 25576899, 25584719, 25588542, 26176686, 26680454, 27058903, 27785980, 28489587, 28875621, 29072975, 29161986, 30758123, 31127889, 31235699, 31319771, 31545405, 31637475, 31766881, 31991166, 32216548, 32284020, 32421817, 32935463, 33599171, 34613404, 35026411, 35521657, 35977347, 36202556, 36430869, 36637521, 37059834, 37122752, 37182332, 37198319, 37675898, 38044137, 38062767	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	16143028, 17542667, 19626635, 27776688, 29541194		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	34851044, 38203733, 38241570	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	12881714, 19269016, 20526288, 24908232, 25923053, 26422023		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	CTD_human_DG	16940797, 19878585, 21185263, 26751190, 30621213, 30935902		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	12670889, 12907632, 12970315, 14602780, 14996725, 15126572, 15145515, 15272920, 15630448, 15671769, 15840741, 15980887, 15998781, 16199894, 16268813, 16299399, 16533790, 16551863, 16772349, 16784981, 16940797, 17054470, 17179987, 17363500, 17545628, 17717450, 17878251, 17891249, 17891251, 17911174, 18032931, 18043251, 18235983, 18381570, 18426810, 18462259, 18502330, 18697864, 19107232, 19147628, 19156774, 19356676, 19493000, 19850689, 19878585, 19910897, 20142332, 20498063, 20637346, 20926530, 20950194, 21048359, 21142662, 21147872, 21167555, 21185263, 21351275, 21355020, 21383698, 21412762, 21447745, 21455199, 21512141, 21526955, 21795305, 21803329, 21826673, 21878896, 21909080, 22105775, 22118425, 22190222, 22435913, 22442268, 22535974, 22583421, 22630346, 22694820, 22858857, 22997209, 22998776, 23088640, 23161556, 23263826, 23372702, 23427907, 23435375, 23496275, 23513230, 23559083, 23658295, 23668556, 23775351, 23792105, 23833040, 23931930, 24161954, 24164374, 24243688, 24248188, 24382015, 24400871, 24442520, 24446739, 24588959, 24603332, 24617711, 24677749, 24811481, 24828987, 24873948, 24927793, 24955518, 25029414, 25120313, 25229773, 25244593, 25262966, 25266729, 25285888, 25333496, 25381600, 25467940, 25576899, 25961545, 26258321, 26265449, 26422023, 26456083, 26456124, 26543077, 26631873, 26711586, 26733501, 26751190, 26818109, 26884114, 26943572, 26960768, 27058903, 27179656, 27184112, 27618325, 27689252, 27696232, 27754804, 27863429, 27880942, 27886677, 28201758, 28258306, 28975450, 29269566, 29293907, 29435002, 29487290, 29579361, 29593792, 29616135, 29737325, 29805692, 30256977, 30398411, 30414980, 30481266, 30531837, 30760304, 30768848, 31097454, 31229486, 31289571, 31322645, 31412566, 31540406, 31821747		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	12670889, 12697856, 15126572, 15273715, 15968271, 15980887, 15998781, 16007166, 16174717, 16601293, 16728573, 16786134, 16932278, 16959844, 17044028, 17179987, 17199737, 17297294, 17355635, 17464312, 17520704, 17542667, 17717450, 17721188, 17727338, 17785355, 17878251, 17911174, 17940185, 18045960, 18226854, 18310286, 18310287, 18310288, 18337114, 18383861, 18509003, 18676742, 18697864		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CTD_human_DG	16940797, 19878585, 21185263, 26751190, 30621213, 30935902		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	15195111, 15980887, 17717450, 17972530, 18383861, 18458053, 19487299, 19878585, 20237991, 20332228, 21048359, 21167555, 21185263, 21412762, 21937738, 22090271, 22118425, 22507190, 22694820, 22887574, 22998776, 23414134, 23533233, 23658295, 23766237, 23775351, 24248188, 24617711, 24664307, 24673746, 24947099, 24955518, 25019383, 25045295, 25120313, 25121551, 25333496, 25417114, 25576899, 25592597, 25814520, 25867065, 25879531, 26125698, 26230187, 26258321, 26259532, 26284586, 26314551, 26456124, 26584635, 26597052, 26695504, 26751190, 26818109, 26828826, 26878173, 26884114, 26960768, 26969876, 27037835, 27058903, 27127178, 27264674, 27277113, 27350555, 27387551, 27447554, 27493271, 27555670, 27689252, 28013235, 28031237, 28201758, 28257096, 28347233, 28413212, 28413213, 28423638, 28493027, 28552827, 29165687, 29199726, 29293907, 29316976, 29467389, 29579361, 30032208, 30209893, 30256977, 30361901, 30531837, 30768848, 30884810, 31115496, 31235699, 31257748, 31841566, 32024448, 32216548, 32315324, 32316638, 32333269, 32357861, 32415114, 32421817, 32737449, 32781560, 32812852, 32972866, 32995956, 33074583, 33237975, 33305870, 33413689, 33677931, 33716974, 33821390, 34072194, 34076961, 34394248, 34449926, 34635506, 34702207, 34972706, 35015563, 35045748, 35123502, 35246262, 35255601, 35272691, 35332119, 35397361, 35556126, 35594174, 35646190, 35658604, 35748101, 35846335, 35951496, 36187616, 36313748, 36321670, 36444572, 36510281, 36579983, 36604958, 36768841, 36790391, 36834830, 36835466, 36975440, 36980957, 37074727, 37081757, 37144982, 37153748, 37198319, 37219859, 37373171, 37465126, 37505499, 37859987, 37884333, 37922690, 37922948, 38062767, 38275291, 38277563, 38436206, 39342349, 39390090, 39684934, 40104288	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasms	Thyroid cancer	Pubtator	34449926	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Nodule	Thyroid Nodule	BEFREE	15102681, 15186612, 17054470, 17381488, 17641411, 17727338, 18382358, 19672964, 19693938, 19710001, 20130073, 20187782, 20395530, 20652698, 20703476, 20945104, 21175381, 21239517, 21707687, 21751431, 22123232, 22233760, 22500044, 22504197, 22535974, 22563563, 22770943, 23200790, 23280049, 23476074, 23505540, 23668556, 23717622, 23775008, 23808402, 24074409, 24167125, 24267957, 24452872, 24588959, 24746198, 24908232, 24989827, 25109485, 25121551, 25194426, 25333496, 25337709, 25616949, 25648502, 25868389, 25920006, 25937618, 25978151, 25988212, 26020381, 26166089, 26187369, 26215382, 26232865, 26354351, 26422023, 26457492, 26581891, 26597052, 26749005, 26782803, 26854757, 29132392, 29566402, 29890543, 30118506, 30863114, 31042674, 31305422, 31441082, 31811566		★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	LHGDN	15186612		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	17308360, 23263826, 24337906, 25266729		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	18458053, 20703476, 22682753, 22732473, 23752636, 24150898, 24619974, 25156883, 25780001, 25924719, 26597052, 26828826, 27555670, 27717198, 29469940, 30249281, 30768848, 31437520, 31766881, 33198784, 33578538, 34613404, 34702207, 36070149, 36217175, 36604958, 37072862	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	31994851	Associate	★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	29084544	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	19404844, 19404918, 25767210, 31620413		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	28686121	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24423920, 33297339	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	25346165, 26333016, 29221145		★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 2 (disorder)	Tuberous Sclerosis	BEFREE	21693435, 21813464, 26333016		★☆☆☆☆ Found in Text Mining only
TUMOR PREDISPOSITION SYNDROME	TUMOR PREDISPOSITION SYNDROME	BEFREE	23624918		★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	23045248, 24166180, 24196786, 25139339, 25280751, 25305506, 25341111, 25624727, 25663779, 25929517, 27022117, 28416767, 28911067, 30643016, 31152084, 32620917, 33276219, 39207001	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	14654916, 14668801, 14695993, 15704157, 17143472, 17914558, 18061181, 18519771, 19461239, 23511561, 23763264, 23807779, 24166180, 24231454, 24643221, 24832158, 27821793, 28214977, 28712102, 29675807, 30044143, 30448733, 31609810		★☆☆☆☆ Found in Text Mining only
Turner Syndrome, Male	Turner Syndrome, Male	CTD_human_DG	17703371		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	15704157		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	15126572, 17453004, 17714762, 20840674, 23648460, 25894433, 26403329, 26826416		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	20853079, 23897969, 28388658, 31077629	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	40317966	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	12778069, 15145934, 15928660, 16452469, 18985043, 27928645, 30601876, 35341390	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	12778069, 12824225, 14522889, 14522897, 14691295, 15179189, 15277467, 15917418, 15928660, 16452469, 17898258, 17962436, 18172070, 18985043, 22805292, 23633454, 23685997, 23981010, 24697775, 27915441, 27928645, 28228113, 28700778, 29059311, 30924738		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	30222658		★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	15935100, 23041829	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vipoma	Vipoma	Pubtator	34331515	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	25806780, 28342215, 30939167		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	30939167	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	31532537	Inhibit	★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	25806780, 28342215, 30939167		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	27121112		★☆☆☆☆ Found in Text Mining only
Warburg Sjo Fledelius syndrome	Warburg micro syndrome	Pubtator	39342349	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	22568401, 22591444, 23082883, 25794445, 26957305, 31630459		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	32238401, 35184066	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	24483290	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	24483290		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

RAF1 11 shared diseasesDilated cardiomyopathy, Cardiofaciocutaneous syndrome, Costello syndrome, Hypertrophic cardiomyopathy, Kidney neoplasms, Leopard syndrome, Liver neoplasms, Lung neoplasms, Noonan syndrome, Tetralogy of fallot, noonan syndrome with multiple lentigines 48 shared pathwaysEGFR tyrosine kinase inhibitor resistance, Endocrine resistance, MAPK signaling pathway, ErbB signaling pathway, Rap1 signaling pathway, cAMP signaling pathway, Chemokine signaling pathway, FoxO signaling pathway, mTOR signaling pathway, Vascular smooth muscle contraction, Focal adhesion, Natural killer cell mediated cytotoxicity +36 more 23 shared evidence sourcesClinGen (Cardiofaciocutaneous syndrome), Disgenet (Cardiofaciocutaneous syndrome), Disgenet (Dilated cardiomyopathy), ClinGen (Costello syndrome), Disgenet (Costello syndrome), Disgenet (Hypertrophic cardiomyopathy), CTD (Glioma), CTD (Kidney neoplasms), Disgenet (Leopard syndrome), CTD (Leopard syndrome), ClinVar (Leopard syndrome), HPO (Leopard syndrome) +11 more Related via 48 shared pathways including EGFR tyrosine kinase inhibitor resistance, Endocrine resistance — evidence mostly Disgenet. MAP2K1 5 shared diseasesCardiofaciocutaneous syndrome, Costello syndrome, Leopard syndrome, Noonan syndrome, noonan syndrome with multiple lentigines 50 shared pathwaysEGFR tyrosine kinase inhibitor resistance, Endocrine resistance, MAPK signaling pathway, ErbB signaling pathway, Rap1 signaling pathway, cAMP signaling pathway, Chemokine signaling pathway, FoxO signaling pathway, mTOR signaling pathway, Vascular smooth muscle contraction, Focal adhesion, Natural killer cell mediated cytotoxicity +38 more 18 shared evidence sourcesCTD (Cardiofaciocutaneous syndrome), ClinGen (Cardiofaciocutaneous syndrome), Orphanet (Cardiofaciocutaneous syndrome), Disgenet (Cardiofaciocutaneous syndrome), ClinVar (Cardiofaciocutaneous syndrome), HPO (Cardiofaciocutaneous syndrome), CTD (Costello syndrome), ClinGen (Costello syndrome), Disgenet (Costello syndrome), Disgenet (Leopard syndrome), CTD (Melanoma), ClinGen (Noonan syndrome) +6 more Related via 50 shared pathways including EGFR tyrosine kinase inhibitor resistance, Endocrine resistance — evidence mostly CTD. MAP2K2 4 shared diseasesCardiofaciocutaneous syndrome, Costello syndrome, Leopard syndrome, Noonan syndrome 43 shared pathwaysEGFR tyrosine kinase inhibitor resistance, Endocrine resistance, MAPK signaling pathway, ErbB signaling pathway, Rap1 signaling pathway, cAMP signaling pathway, FoxO signaling pathway, mTOR signaling pathway, Vascular smooth muscle contraction, Natural killer cell mediated cytotoxicity, Long-term potentiation, Neurotrophin signaling pathway +31 more 15 shared evidence sourcesCTD (Cardiofaciocutaneous syndrome), ClinGen (Cardiofaciocutaneous syndrome), GWAS catalog (Cardiofaciocutaneous syndrome), Orphanet (Cardiofaciocutaneous syndrome), Disgenet (Cardiofaciocutaneous syndrome), ClinVar (Cardiofaciocutaneous syndrome), HPO (Cardiofaciocutaneous syndrome), CTD (Costello syndrome), Disgenet (Costello syndrome), Disgenet (Leopard syndrome), CTD (Melanoma), ClinGen (Noonan syndrome) +3 more Related via 43 shared pathways including EGFR tyrosine kinase inhibitor resistance, Endocrine resistance — evidence mostly CTD. KRAS 11 shared diseasesCerebral arteriovenous malformations, Carcinogenesis, Cardiofaciocutaneous syndrome, Colorectal neoplasms, Costello syndrome, Differentiated thyroid carcinoma, Liver neoplasms, Lung neoplasms, Noonan syndrome, Tetralogy of fallot, Thyroid neoplasms 44 shared pathwaysEGFR tyrosine kinase inhibitor resistance, Endocrine resistance, MAPK signaling pathway, ErbB signaling pathway, Rap1 signaling pathway, Chemokine signaling pathway, FoxO signaling pathway, mTOR signaling pathway, Natural killer cell mediated cytotoxicity, Long-term potentiation, Neurotrophin signaling pathway, Serotonergic synapse +32 more 28 shared evidence sourcesDisgenet (Cerebral arteriovenous malformations), CTD (Astrocytoma), CTD (Carcinogenesis), CTD (Cardiofaciocutaneous syndrome), ClinGen (Cardiofaciocutaneous syndrome), GWAS catalog (Cardiofaciocutaneous syndrome), Orphanet (Cardiofaciocutaneous syndrome), Disgenet (Cardiofaciocutaneous syndrome), ClinVar (Cardiofaciocutaneous syndrome), HPO (Cardiofaciocutaneous syndrome), CTD (Colorectal neoplasms), CTD (Costello syndrome) +16 more Related via 44 shared pathways including EGFR tyrosine kinase inhibitor resistance, Endocrine resistance — evidence mostly CTD. NRAS 7 shared diseasesCardiofaciocutaneous syndrome, Colorectal neoplasms, Costello syndrome, Differentiated thyroid carcinoma, Leopard syndrome, Noonan syndrome, noonan syndrome with multiple lentigines 42 shared pathwaysEGFR tyrosine kinase inhibitor resistance, Endocrine resistance, MAPK signaling pathway, ErbB signaling pathway, Rap1 signaling pathway, Chemokine signaling pathway, FoxO signaling pathway, mTOR signaling pathway, Natural killer cell mediated cytotoxicity, Long-term potentiation, Neurotrophin signaling pathway, Serotonergic synapse +30 more 18 shared evidence sourcesClinGen (Cardiofaciocutaneous syndrome), Disgenet (Cardiofaciocutaneous syndrome), ClinVar (Colorectal cancer), HPO (Colorectal cancer), CTD (Colorectal neoplasms), ClinGen (Costello syndrome), Disgenet (Costello syndrome), Orphanet (Differentiated thyroid carcinoma), Disgenet (Leopard syndrome), CTD (Melanoma), ClinGen (Noonan syndrome), Disgenet (Noonan syndrome) +6 more Related via 42 shared pathways including EGFR tyrosine kinase inhibitor resistance, Endocrine resistance — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
RAF1	11	["Dilated cardiomyopathy","Cardiofaciocutaneous syndrome","Costello syndrome","Hypertrophic cardiomyopathy","Kidney neoplasms","Leopard syndrome","Liver neoplasms","Lung neoplasms","Noonan syndrome","Tetralogy of fallot","noonan syndrome with multiple lentigines"]	48	["EGFR tyrosine kinase inhibitor resistance","Endocrine resistance","MAPK signaling pathway","ErbB signaling pathway","Rap1 signaling pathway","cAMP signaling pathway","Chemokine signaling pathway","FoxO signaling pathway","mTOR signaling pathway","Vascular smooth muscle contraction","Focal adhesion","Natural killer cell mediated cytotoxicity"]	23	["ClinGen (Cardiofaciocutaneous syndrome)","Disgenet (Cardiofaciocutaneous syndrome)","Disgenet (Dilated cardiomyopathy)","ClinGen (Costello syndrome)","Disgenet (Costello syndrome)","Disgenet (Hypertrophic cardiomyopathy)","CTD (Glioma)","CTD (Kidney neoplasms)","Disgenet (Leopard syndrome)","CTD (Leopard syndrome)","ClinVar (Leopard syndrome)","HPO (Leopard syndrome)"]
MAP2K1	5	["Cardiofaciocutaneous syndrome","Costello syndrome","Leopard syndrome","Noonan syndrome","noonan syndrome with multiple lentigines"]	50	["EGFR tyrosine kinase inhibitor resistance","Endocrine resistance","MAPK signaling pathway","ErbB signaling pathway","Rap1 signaling pathway","cAMP signaling pathway","Chemokine signaling pathway","FoxO signaling pathway","mTOR signaling pathway","Vascular smooth muscle contraction","Focal adhesion","Natural killer cell mediated cytotoxicity"]	18	["CTD (Cardiofaciocutaneous syndrome)","ClinGen (Cardiofaciocutaneous syndrome)","Orphanet (Cardiofaciocutaneous syndrome)","Disgenet (Cardiofaciocutaneous syndrome)","ClinVar (Cardiofaciocutaneous syndrome)","HPO (Cardiofaciocutaneous syndrome)","CTD (Costello syndrome)","ClinGen (Costello syndrome)","Disgenet (Costello syndrome)","Disgenet (Leopard syndrome)","CTD (Melanoma)","ClinGen (Noonan syndrome)"]
MAP2K2	4	["Cardiofaciocutaneous syndrome","Costello syndrome","Leopard syndrome","Noonan syndrome"]	43	["EGFR tyrosine kinase inhibitor resistance","Endocrine resistance","MAPK signaling pathway","ErbB signaling pathway","Rap1 signaling pathway","cAMP signaling pathway","FoxO signaling pathway","mTOR signaling pathway","Vascular smooth muscle contraction","Natural killer cell mediated cytotoxicity","Long-term potentiation","Neurotrophin signaling pathway"]	15	["CTD (Cardiofaciocutaneous syndrome)","ClinGen (Cardiofaciocutaneous syndrome)","GWAS catalog (Cardiofaciocutaneous syndrome)","Orphanet (Cardiofaciocutaneous syndrome)","Disgenet (Cardiofaciocutaneous syndrome)","ClinVar (Cardiofaciocutaneous syndrome)","HPO (Cardiofaciocutaneous syndrome)","CTD (Costello syndrome)","Disgenet (Costello syndrome)","Disgenet (Leopard syndrome)","CTD (Melanoma)","ClinGen (Noonan syndrome)"]
KRAS	11	["Cerebral arteriovenous malformations","Carcinogenesis","Cardiofaciocutaneous syndrome","Colorectal neoplasms","Costello syndrome","Differentiated thyroid carcinoma","Liver neoplasms","Lung neoplasms","Noonan syndrome","Tetralogy of fallot","Thyroid neoplasms"]	44	["EGFR tyrosine kinase inhibitor resistance","Endocrine resistance","MAPK signaling pathway","ErbB signaling pathway","Rap1 signaling pathway","Chemokine signaling pathway","FoxO signaling pathway","mTOR signaling pathway","Natural killer cell mediated cytotoxicity","Long-term potentiation","Neurotrophin signaling pathway","Serotonergic synapse"]	28	["Disgenet (Cerebral arteriovenous malformations)","CTD (Astrocytoma)","CTD (Carcinogenesis)","CTD (Cardiofaciocutaneous syndrome)","ClinGen (Cardiofaciocutaneous syndrome)","GWAS catalog (Cardiofaciocutaneous syndrome)","Orphanet (Cardiofaciocutaneous syndrome)","Disgenet (Cardiofaciocutaneous syndrome)","ClinVar (Cardiofaciocutaneous syndrome)","HPO (Cardiofaciocutaneous syndrome)","CTD (Colorectal neoplasms)","CTD (Costello syndrome)"]
NRAS	7	["Cardiofaciocutaneous syndrome","Colorectal neoplasms","Costello syndrome","Differentiated thyroid carcinoma","Leopard syndrome","Noonan syndrome","noonan syndrome with multiple lentigines"]	42	["EGFR tyrosine kinase inhibitor resistance","Endocrine resistance","MAPK signaling pathway","ErbB signaling pathway","Rap1 signaling pathway","Chemokine signaling pathway","FoxO signaling pathway","mTOR signaling pathway","Natural killer cell mediated cytotoxicity","Long-term potentiation","Neurotrophin signaling pathway","Serotonergic synapse"]	18	["ClinGen (Cardiofaciocutaneous syndrome)","Disgenet (Cardiofaciocutaneous syndrome)","ClinVar (Colorectal cancer)","HPO (Colorectal cancer)","CTD (Colorectal neoplasms)","ClinGen (Costello syndrome)","Disgenet (Costello syndrome)","Orphanet (Differentiated thyroid carcinoma)","Disgenet (Leopard syndrome)","CTD (Melanoma)","ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)"]

Diseases Linked via Similar Genes

Breast neoplasms Linked via 2 of 5 related genesRAF1, KRAS Non-small-cell lung carcinoma Linked via 2 of 5 related genesRAF1, KRAS Cardiomyopathy Linked via 2 of 5 related genesRAF1, KRAS Anemia Linked via 2 of 5 related genesKRAS, NRAS Autoimmune lymphoproliferative disorder Linked via 2 of 5 related genesKRAS, NRAS

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Breast neoplasms	2	["RAF1","KRAS"]
Non-small-cell lung carcinoma	2	["RAF1","KRAS"]
Cardiomyopathy	2	["RAF1","KRAS"]
Anemia	2	["KRAS","NRAS"]
Autoimmune lymphoproliferative disorder	2	["KRAS","NRAS"]