PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)

Gene

• Entrez ID: 5290
• Gene name: Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
• Gene symbol: PIK3CA
• Synonyms (NCBI Gene): CCM4, CLAPO, CLOVE, CWS5, HMH, MCAP, MCM, MCMTC, PI3K, PI3K-alpha, p110-alpha
• Chromosome: 3
• Chromosome location: 3q26.32
• Summary: Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104886003	G>A,C	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, drug-response, not-provided	Missense variant, coding sequence variant
rs121913272	T>C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913273	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913274	A>C,G,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913275	G>A,C,T	Pathogenic, likely-pathogenic, likely-benign	Missense variant, synonymous variant, coding sequence variant
rs121913277	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs121913279	A>G,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913281	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913282	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs121913283	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913284	T>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs121913285	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs121913286	C>A,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913287	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs121913288	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs201884756	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs397514565	G>A	Pathogenic	Missense variant, coding sequence variant
rs397517200	AGATTTGCTGAACCC>-	Likely-pathogenic	Coding sequence variant, inframe indel
rs397517201	A>C,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397517202	A>G	Pathogenic	Missense variant, coding sequence variant
rs587776802	->A	Pathogenic	Coding sequence variant, frameshift variant
rs587776932	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs587776933	AGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs587777790	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587777791	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777792	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777793	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777794	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587777795	GT>C	Pathogenic	Coding sequence variant, frameshift variant
rs587777796	T>G	Pathogenic	Stop gained, coding sequence variant
rs749415085	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs772110575	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225060	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs863225460	T>A	Pathogenic	Missense variant, coding sequence variant
rs867262025	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs886042002	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057518041	->GTC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1057519699	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057519925	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1057519926	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519927	A>C,G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519928	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519929	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519930	G>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057519931	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519932	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519933	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519934	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519935	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519936	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519937	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519938	A>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519939	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519940	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519941	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519942	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1064793349	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793663	G>A	Pathogenic	Missense variant, coding sequence variant
rs1064793732	G>A	Pathogenic	Missense variant, coding sequence variant
rs1064793838	A>G	Pathogenic	Missense variant, coding sequence variant
rs1064795304	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1553820381	CAGTAGGCAACC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1553825266	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553826166	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1553826184	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1560137208	T>C	Pathogenic	Missense variant, coding sequence variant
rs1560137609	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576935161	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1576947658	T>G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006837	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	22940133
MIRT006837	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	22940133
MIRT007316	hsa-miR-148b-3p	Western blot	23238785
MIRT007316	hsa-miR-148b-3p	Western blot	23238785
MIRT017306	hsa-miR-335-5p	Microarray	18185580
MIRT050839	hsa-miR-17-5p	CLASH	23622248
MIRT054839	hsa-miR-375	Luciferase reporter assay, qRT-PCR, Quantitative proteomic approach, Western blot	24440701
MIRT054839	hsa-miR-375	Luciferase reporter assay, qRT-PCR, Quantitative proteomic approach, Western blot	24440701
MIRT054839	hsa-miR-375	Luciferase reporter assay, qRT-PCR, Quantitative proteomic approach, Western blot	24440701
MIRT054839	hsa-miR-375	Luciferase reporter assay, qRT-PCR, Quantitative proteomic approach, Western blot	24440701
MIRT054889	hsa-miR-1-3p	Luciferase reporter assay, qRT-PCR, Western blot	24486107
MIRT007316	hsa-miR-148b-3p	Luciferase reporter assay	23233531
MIRT007316	hsa-miR-148b-3p	Luciferase reporter assay	23233531
MIRT007316	hsa-miR-148b-3p	Luciferase reporter assay	23233531
MIRT438492	hsa-miR-139-5p	Luciferase reporter assay	24158791
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24996183
MIRT438492	hsa-miR-139-5p	Luciferase reporter assay	24158791
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24996183
MIRT161793	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT161793	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT731192	hsa-miR-373-3p	Western blot, Luciferase reporter assay, Microarray	25591738
MIRT731192	hsa-miR-373-3p	Western blot, Luciferase reporter assay, Microarray	25591738
MIRT161796	hsa-miR-490-5p	Luciferase reporter assay, qRT-PCR	26559013
MIRT161796	hsa-miR-490-5p	Luciferase reporter assay, qRT-PCR	26559013
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, qRT-PCR, Western blot	26617776
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, qRT-PCR, Western blot	26617776
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, qRT-PCR, Western blot	26617776
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, Western blot	26617776
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, Western blot	26617776
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, Western blot	26617776
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, Western blot	26617776
MIRT007316	hsa-miR-148b-3p	ELISA, Flow cytometry, Luciferase reporter assay, qRT-PCR, Western blotting	32506974
MIRT007316	hsa-miR-148b-3p	ELISA, Luciferase reporter assay, qRT-PCR, Western blotting	32506974
MIRT734735	hsa-miR-320a	Luciferase reporter assay, Western blotting, qRT-PCR	34194551
MIRT734735	hsa-miR-320a	Western blotting, qRT-PCR, ELISA	34194551
MIRT755609	hsa-miR-29a-3p	Luciferase reporter assay, Western blotting, Immunofluorescence	35288486
MIRT755929	hsa-miR-142-5p	Western blotting, qRT-PCR, in vitro cullelar assays	35194440
MIRT006837	hsa-miR-124-3p	Luciferase reporter assay, Western blotting, qRT-PCR	34747105
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, qRT-PCR	38179473
MIRT2068971	hsa-miR-4264	CLIP-seq
MIRT2068972	hsa-miR-4797-3p	CLIP-seq
MIRT2068973	hsa-miR-520a-5p	CLIP-seq
MIRT2068974	hsa-miR-525-5p	CLIP-seq
MIRT2068975	hsa-miR-579	CLIP-seq
MIRT2068976	hsa-miR-759	CLIP-seq
MIRT2068977	hsa-miR-935	CLIP-seq
MIRT2295970	hsa-miR-1206	CLIP-seq
MIRT2295971	hsa-miR-1246	CLIP-seq
MIRT2295972	hsa-miR-19a	CLIP-seq
MIRT2295973	hsa-miR-19b	CLIP-seq
MIRT2295974	hsa-miR-302a	CLIP-seq
MIRT2295975	hsa-miR-302b	CLIP-seq
MIRT2295976	hsa-miR-302c	CLIP-seq
MIRT2295977	hsa-miR-302d	CLIP-seq
MIRT2295978	hsa-miR-302e	CLIP-seq
MIRT2295979	hsa-miR-3152-5p	CLIP-seq
MIRT2295980	hsa-miR-337-3p	CLIP-seq
MIRT2295981	hsa-miR-370	CLIP-seq
MIRT2295982	hsa-miR-372	CLIP-seq
MIRT2295983	hsa-miR-373	CLIP-seq
MIRT2295984	hsa-miR-4663	CLIP-seq
MIRT2295985	hsa-miR-4693-3p	CLIP-seq
MIRT2295986	hsa-miR-4763-5p	CLIP-seq
MIRT2295987	hsa-miR-4774-3p	CLIP-seq
MIRT2295988	hsa-miR-519a	CLIP-seq
MIRT2295989	hsa-miR-519b-3p	CLIP-seq
MIRT2295990	hsa-miR-519c-3p	CLIP-seq
MIRT2295991	hsa-miR-520a-3p	CLIP-seq
MIRT2295992	hsa-miR-520b	CLIP-seq
MIRT2295993	hsa-miR-520c-3p	CLIP-seq
MIRT2295994	hsa-miR-520d-3p	CLIP-seq
MIRT2295995	hsa-miR-520e	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXO3	Unknown	19299143
HIF1A	Unknown	23060442

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001889	Process	Liver development	IEA
GO:0001944	Process	Vasculature development	TAS	19200708
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	10490823, 16043515, 17475214, 18079394, 19380743, 19411071, 19574958, 19805105, 20018188, 20713702, 21706016, 22402981, 23643389, 23676467, 24189400, 25253337, 25814554, 26496610, 28514442, 30568254, 32814053, 33961781, 34591612, 34591642, 35271311, 35512704
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005942	Component	Phosphatidylinositol 3-kinase complex	IEA
GO:0005942	Component	Phosphatidylinositol 3-kinase complex	ISS
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	IBA
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	IDA	22402981
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	IPI	19805105
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	NAS	20379207, 22402981
GO:0005944	Component	Phosphatidylinositol 3-kinase complex, class IB	IBA
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	TAS
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0008286	Process	Insulin receptor signaling pathway	TAS	19200708
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010592	Process	Positive regulation of lamellipodium assembly	ISS
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0014704	Component	Intercalated disc	IEA
GO:0014704	Component	Intercalated disc	ISS
GO:0014823	Process	Response to activity	IEA
GO:0014870	Process	Response to muscle inactivity	IEA
GO:0016242	Process	Negative regulation of macroautophagy	NAS	23778976
GO:0016301	Function	Kinase activity	IEA
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	IBA
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	IDA	2174051
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	IEA
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	ISS
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	TAS	19200708
GO:0016477	Process	Cell migration	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030168	Process	Platelet activation	TAS	21035500
GO:0030295	Function	Protein kinase activator activity	IEA
GO:0030835	Process	Negative regulation of actin filament depolymerization	IEA
GO:0030835	Process	Negative regulation of actin filament depolymerization	ISS
GO:0032008	Process	Positive regulation of TOR signaling	NAS	23778976
GO:0032869	Process	Cellular response to insulin stimulus	IDA	24529379
GO:0035005	Function	1-phosphatidylinositol-4-phosphate 3-kinase activity	IBA
GO:0035994	Process	Response to muscle stretch	IEA
GO:0035994	Process	Response to muscle stretch	ISS
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IBA
GO:0038084	Process	Vascular endothelial growth factor signaling pathway	IGI	30496354
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0043201	Process	Response to L-leucine	IEA
GO:0043276	Process	Anoikis	NAS	23778976
GO:0043457	Process	Regulation of cellular respiration	IEA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI	30496354
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS	30568254
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043542	Process	Endothelial cell migration	TAS	19200708
GO:0043560	Function	Insulin receptor substrate binding	IEA
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IEA
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	ISS
GO:0046934	Function	1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity	IBA
GO:0046934	Function	1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity	IDA	28676499
GO:0046934	Function	1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity	IEA
GO:0046934	Function	1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IEA
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IEA
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI	30496354
GO:0055119	Process	Relaxation of cardiac muscle	IEA
GO:0055119	Process	Relaxation of cardiac muscle	ISS
GO:0060048	Process	Cardiac muscle contraction	TAS	19147653
GO:0060612	Process	Adipose tissue development	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071464	Process	Cellular response to hydrostatic pressure	IEA
GO:0071464	Process	Cellular response to hydrostatic pressure	ISS	30568254
GO:0071548	Process	Response to dexamethasone	IEA
GO:0086003	Process	Cardiac muscle cell contraction	IEA
GO:0086003	Process	Cardiac muscle cell contraction	ISS
GO:0097009	Process	Energy homeostasis	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0110053	Process	Regulation of actin filament organization	IEA
GO:0110053	Process	Regulation of actin filament organization	ISS
GO:0141068	Process	Autosome genomic imprinting	IEA
GO:1903544	Process	Response to butyrate	IEA
GO:1905477	Process	Positive regulation of protein localization to membrane	IDA	28676499
GO:2000270	Process	Negative regulation of fibroblast apoptotic process	IEA
GO:2000811	Process	Negative regulation of anoikis	IMP	22402981
GO:2000811	Process	Negative regulation of anoikis	NAS	22402981

Other IDs

• MIM: 171834
• HGNC: 8975
• e!Ensembl: ENSG00000121879

Protein

• UniProt ID: P42336
• Protein name: Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform (PI3-kinase subunit alpha) (PI3K-alpha) (PI3Kalpha) (PtdIns-3-kinase subunit alpha) (EC 2.7.1.137) (EC 2.7.1.153) (Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa cataly
• Protein function: Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed:23936502, PubMed:28676499). Uses ATP and PtdI
• PDB: 2ENQ, 2RD0, 3HHM, 3HIZ, 3ZIM, 4JPS, 4L1B, 4L23, 4L2Y, 4OVU, 4OVV, 4TUU, 4TV3, 4WAF, 4YKN, 4ZOP, 5DXH, 5DXT, 5FI4, 5ITD, 5SW8, 5SWG, 5SWO, 5SWP, 5SWR, 5SWT, 5SX8, 5SX9, 5SXA, 5SXB, 5SXC, 5SXD, 5SXE, 5SXF, 5SXI, 5SXJ, 5SXK, 5UBR, 5UK8, 5UKJ, 5UL1, 5XGH, 5XGI, 5XGJ, 6GVF, 6GVG, 6GVH, 6GVI, 6NCT, 6OAC, 6PYS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02192	PI3K_p85B	32 → 107	PI3-kinase family, p85-binding domain	Family
  PF00794	PI3K_rbd	173 → 292	PI3-kinase family, ras-binding domain	Domain
  PF00792	PI3K_C2	350 → 485	Phosphoinositide 3-kinase C2	Domain
  PF00613	PI3Ka	519 → 704	Phosphoinositide 3-kinase family, accessory domain (PIK domain)	Family
  PF00454	PI3_PI4_kinase	796 → 1015	Phosphatidylinositol 3- and 4-kinase	Family

• Sequence:

  MPPRPSSGELWGIHLMPPRILVECLLPNGMIVTLECLREATLITIKHELFKEARKYPLHQ
  LLQDESSYIFVSVTQEAEREEFFDETRRLCDLRLFQPFLKVIEPVGNREEKILNREIGFA
  IGMPVCEFDMVKDPEVQDFRRNILNVCKEAVDLRDLNSPHSRAMYVYPPNVESSPELPKH
  IYNKLDKGQIIVVIWVIVSPNNDKQKYTLKINHDCVPEQVIAEAIRKKTRSMLLSSEQLK
  LCVLEYQGKYILKVCGCDEYFLEKYPLSQYKYIRSCIMLGRMPNLMLMAKESLYSQLPMD
  CFTMPSYSRRISTATPYMNGETSTKSLWVINSALRIKILCATYVNVNIRDIDKIYVRTGI
  YHGGEPLCDNVNTQRVPCSNPRWNEWLNYDIYIPDLPRAARLCLSICSVKGRKGAKEEHC
  PLAWGNINLFDYTDTLVSGKMALNLWPVPHGLEDLLNPIGVTGSNPNKETPCLELEFDWF
  SSVVKFPDMSVIEEHANWSVSREAGFSYSHAGLSNRLARDNELRENDKEQLKAISTRDPL
  SEITEQEKDFLWSHRHYCVTIPEILPKLLLSVKWNSRDEVAQMYCLVKDWPPIKPEQAME
  LLDCNYPDPMVRGFAVRCLEKYLTDDKLSQYLIQLVQVLKYEQYLDNLLVRFLLKKALTN
  QRIGHFFFWHLKSEMHNKTVSQRFGLLLESYCRACGMYLKHLNRQVEAMEKLINLTDILK
  QEKKDETQKVQMKFLVEQMRRPDFMDALQGFLSPLNPAHQLGNLRLEECRIMSSAKRPLW
  LNWENPDIMSELLFQNNEIIFKNGDDLRQDMLTLQIIRIMENIWQNQGLDLRMLPYGCLS
  IGDCVGLIEVVRNSHTIMQIQCKGGLKGALQFNSHTLHQWLKDKNKGEIYDAAIDLFTRS
  CAGYCVATFILGIGDRHNSNIMVKDDGQLFHIDFGHFLDHKKKKFGYKRERVPFVLTQDF
  LIVISKGAQECTKTREFERFQEMCYKAYLAIRQHANLFINLFSMMLGSGMPELQSFDDIA
  YIRKTLALDKTEQEALEYFMKQMNDAHHGGWTTKMDWIFHTIKQHALN

• Sequence length: 1068

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal cardiovascular system morphology	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs121913274, rs121913284, rs121913288, rs1057519925, rs1057519929, rs121913273, rs121913272, rs587776932, rs397517201	RCV001327968 RCV001327963 RCV001327964 RCV001327959 RCV001327967 RCV001327961 RCV001327958 RCV001327962 RCV001327960 RCV001327966 RCV001327965	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abnormal cerebral morphology	Pathogenic	rs121913287, rs587776932	RCV002275002 RCV002274888	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the hairline	Pathogenic	rs1057519942	RCV000852337	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adenocarcinoma of the large intestine	Likely pathogenic; Pathogenic	rs104886003	RCV006253574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adenoid cystic carcinoma	Pathogenic	rs121913279	RCV006253559	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alveolar rhabdomyosarcoma	Pathogenic	rs121913273	RCV006253682	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Angioosteohypertrophic syndrome	Likely pathogenic; Pathogenic	rs2108424902, rs587777790, rs104886003, rs1064793732, rs587776932, rs1724507777, rs1724343994	RCV001526502 RCV002254279 RCV004527293 RCV002254298 RCV002254272 RCV006272147 RCV004527420	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arteriovenous malformation	Likely pathogenic	rs2473557457	RCV004527554	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Astrocytoma IDH-mutant	Pathogenic	rs1242945375	RCV006254276	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast adenocarcinoma	Pathogenic; Likely pathogenic	rs121913279, rs121913286, rs104886003	RCV000014622 RCV000014629 RCV000014630 RCV000014631	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast carcinoma	Pathogenic	rs121913279	RCV003128082	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Capillary malformation	Pathogenic	rs121913275, rs121913272, rs1724507777	RCV003485561 RCV001526612 RCV003485684	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Capillary malformation-arteriovenous malformation 1	Likely pathogenic	rs2473887956	RCV004527555	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma of colon	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs121913274, rs121913286	RCV000014624 RCV000014633 RCV000014637 RCV000014640	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cavernous lymphangioma	Pathogenic	rs121913279	RCV006253563 RCV004527292	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral cavernous malformation	Likely pathogenic; Pathogenic	rs104886003	RCV006253568	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC	Pathogenic	rs121913279, rs121913273	RCV001728091 RCV001728092 RCV001728093	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebrofacial Vascular Metameric Syndrome (CVMS)	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs121913273	RCV001730472 RCV001730473 RCV001730477	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CLAPO syndrome	Likely pathogenic; Pathogenic	rs200018596, rs121913279, rs121913273, rs121913272, rs1560137208	RCV000709696 RCV001729349 RCV000709692 RCV000709693 RCV000709694 RCV000709697	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CLOVES syndrome	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs2108390250, rs121913287, rs1057519925, rs1057519929, rs121913273, rs121913272, rs587776932, rs121913281, rs397517199, rs397517202, rs1724507777, rs1724343994	RCV000024621 RCV000032905 RCV001262721 RCV003990433 RCV004767253 RCV001526693 RCV001526599 RCV000024622 RCV000024623 RCV004798751 RCV002226661 RCV001256198 RCV001526503 RCV001526537 RCV003447584	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Pathogenic	rs121913272	RCV006253687	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Pathogenic	rs121913279, rs121913272, rs1724405916	RCV006253558 RCV001807728 RCV005603590 RCV001293838	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital fibrosarcoma	Likely pathogenic; Pathogenic	rs104886003	RCV006253572	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital macrodactylia	Pathogenic	rs121913279	RCV001526648	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cowden syndrome	Likely pathogenic; Pathogenic	rs2108425281, rs121913277, rs587777790, rs2108429509, rs121913283, rs863225060, rs121913275, rs886042002, rs121913287, rs121913288, rs1057519925, rs867262025, rs1057519929, rs1057519942, rs121913273, rs121913272, rs1064793732, rs1064793838, rs587776932, rs397514565, rs121913281, rs587776933	RCV001366657 RCV002043221 RCV002512561 RCV005095870 RCV000699681 RCV001221647 RCV000631214 RCV002517302 RCV001859541 RCV001224952 RCV001851016 RCV001861479 RCV001851018 RCV002524695 RCV000631216 RCV002513230 RCV003588566 RCV000798360 RCV001856831 RCV001852661 RCV000806643 RCV000698423 RCV003588567	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cowden syndrome 1	Pathogenic; Likely pathogenic	rs121913279, rs1576947658	RCV000987367 RCV000987366	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cowden syndrome 5	Pathogenic	rs587777790, rs587777791, rs587777792, rs587777793, rs587777796, rs121913287, rs1057519942, rs1064793663, rs587776932	RCV000144506 RCV000144507 RCV000144508 RCV000144509 RCV000144512 RCV003995942 RCV000767535 RCV005252905 RCV001594376	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diaphragmatic eventration	Pathogenic	rs1057519942	RCV000852337	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse glioma, H3 G34 mutant	Pathogenic	rs587777790, rs121913279, rs121913286	RCV006253827 RCV006253564 RCV006253579	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse midline glioma, H3 K27M-mutant	Pathogenic; Likely pathogenic	rs121913279, rs121913286, rs121913284, rs1057519941, rs121913273, rs121913272, rs397514565, rs121913281	RCV006253562 RCV006253566 RCV006253577 RCV006253977 RCV006254016 RCV006253686 RCV006253689 RCV006253701 RCV006253702	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Likely pathogenic; Pathogenic	rs121913277, rs587777790, rs121913279, rs397517201, rs121913287, rs121913288, rs867262025, rs1553821144	RCV006254319 RCV006253826 RCV006253561 RCV006253953 RCV006253973 RCV006253994 RCV006254011 RCV006254115	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dysembryoplastic neuroepithelial tumor	Pathogenic	rs587777790, rs121913274, rs867262025	RCV006253828 RCV006253580 RCV006254012	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Eccrine angiomatous hamartoma	Likely pathogenic; Pathogenic	rs104886003	RCV001786329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Embryonal rhabdomyosarcoma	Pathogenic; Likely pathogenic	rs587777790, rs886042002, rs121913279, rs104886003, rs1724343994	RCV006253825 RCV006253937 RCV006253560 RCV006253571 RCV006254260	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial carcinoma	Likely pathogenic	rs1553826166	RCV000587402	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermal nevus	Pathogenic	rs121913274, rs397514565	RCV000014638 RCV005229840	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic	rs1560137609	RCV000714876	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gallbladder cancer	Likely pathogenic; Pathogenic	rs104886003	RCV001374447	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs587776802	RCV002508124 RCV002508125 RCV002508126	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Giant cell glioblastoma	Pathogenic; Likely pathogenic	rs121913287, rs1724343994	RCV006253975 RCV006254261	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma	Pathogenic	rs121913279, rs121913273	RCV006253557 RCV006253683	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs1064793663	RCV002464207	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease, type II	Likely pathogenic	rs1724954436	RCV001270431	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMIFACIAL MYOHYPERPLASIA, SOMATIC	Likely pathogenic; Pathogenic	rs104886003, rs121913273, rs121913281	RCV003764575 RCV003764635 RCV003882732	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemihypertrophy	Pathogenic	rs121913279	RCV001526597	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic; Likely pathogenic	rs121913279, rs587776802, rs121913274	RCV000014626 RCV000014641 RCV000014643	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertelorism	Pathogenic	rs1057519942	RCV000852337	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypospadias	Pathogenic	rs1064793663	RCV002464207	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IDH-wildtype glioblastoma	Likely pathogenic; Pathogenic	rs104886003, rs121913272	RCV006253575 RCV006253691	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immature ovarian teratoma	Pathogenic	rs121913272	RCV006253692	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal duplication	Pathogenic	rs1057519942	RCV000852337	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoacanthoma	Pathogenic	rs587777790	RCV001849317	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Klippel-Trenaunay-like-Syndrome	Pathogenic	rs121913279	RCV003325939	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lip and oral cavity carcinoma	Pathogenic	rs121913279, rs1057519927, rs121913273	RCV001255686 RCV001255685 RCV001255687	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphatic malformation	Pathogenic; Likely pathogenic	rs2108430158, rs104886003	RCV001533202 RCV006253569	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly	Pathogenic	rs1064793663	RCV002464207	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrodactyly of toe	Pathogenic	rs121913279	RCV000626894	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MACRODACTYLY, SOMATIC	Likely pathogenic; Pathogenic	rs200018596, rs121913279	RCV000709695 RCV000709691	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs2108429797	RCV003332975	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma WNT activated	Likely pathogenic; Pathogenic	rs121913283, rs121913279, rs104886003, rs121913274, rs121913286, rs121913287, rs121913272, rs1724507777	RCV006253845 RCV006253567 RCV006253573 RCV006253576 RCV006253578 RCV006253974 RCV006253690 RCV006254201	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Megalencephaly, autosomal dominant	Pathogenic	rs1057519942	RCV000852337	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megalencephaly-capillary malformation-polymicrogyria syndrome	Likely pathogenic; Pathogenic	rs2108424902, rs200018596, rs1242945375, rs1724342112, rs1724674149, rs1057519936, rs121913283, rs1278986760, rs2108413895, rs121913275, rs863225460, rs886042002, rs121913279, rs104886003, rs121913286, rs121913287, rs121913285, rs121913277, rs1057519925, rs867262025, rs1057519929, rs1057519938, rs121913273, rs1064793349, rs1064793732, rs587776932, rs397514565, rs121913281, rs587776933, rs1576935161, rs1724507777	RCV002464456 RCV001526501 RCV001526504 RCV005253861 RCV001807938 RCV001808924 RCV001526545 RCV002468764 RCV002468765 RCV001775099 RCV000202414 RCV001353357 RCV001807727 RCV001253236 RCV000055930 RCV004698784 RCV003225067 RCV001775117 RCV002051848 RCV000991209 RCV003152707 RCV001542570 RCV002051723 RCV004698785 RCV001849378 RCV001526558 RCV000032907 RCV000032908 RCV000032909 RCV000032910 RCV001775154 RCV001072146 RCV003225150	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma	Pathogenic	rs1553821144	RCV006254114	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nasopharyngeal carcinoma	Pathogenic	rs121913279	RCV006253556	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs2108425281, rs1724342112, rs587777790, rs886042002, rs121913279, rs104886003, rs121913286, rs121913274, rs397517201, rs121913287, rs121913284, rs121913285, rs121913288, rs1057519925, rs867262025, rs1057519929, rs772110575, rs1057519941, rs121913273, rs121913272, rs1064793732, rs397517199, rs1724674149, rs1724343994	RCV006274210 RCV005232626 RCV006273563 RCV005230225 RCV000438435 RCV004668728 RCV004668729 RCV006273054 RCV006273055 RCV005230286 RCV004668930 RCV005230292 RCV005230295 RCV006273725 RCV006273732 RCV006273733 RCV005230297 RCV004668950 RCV005230298 RCV004668742 RCV004668743 RCV006273822 RCV004668761 RCV004668762 RCV005232115 RCV005232238	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuroblastoma	Pathogenic	rs121913279, rs121913272, rs1064793663	RCV006253555 RCV006253688 RCV006254062	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-small cell lung carcinoma	Likely pathogenic; Pathogenic	rs121913283, rs121913279, rs104886003, rs121913273, rs121913281, rs397517200, rs397517202	RCV000155959 RCV000014627 RCV000038671 RCV000154513 RCV000038675 RCV000038670 RCV000038673	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome 8	Pathogenic	rs1057519938	RCV002051723	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OVARIAN CANCER, EPITHELIAL, SOMATIC	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs121913286	RCV000014623 RCV000014632 RCV000014639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian neoplasm	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs121913286, rs121913274, rs397517201, rs121913287, rs121913273, rs1057519925, rs1057519941, rs121913272, rs1064793732	RCV000154516 RCV000422323 RCV000422210 RCV000436582 RCV000154515 RCV000785567 RCV000785354 RCV000785596 RCV000785580 RCV000785595 RCV000151649 RCV000154512 RCV000785369 RCV000038672	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	Likely pathogenic; Pathogenic	rs1724342112, rs121913279, rs867262025, rs772110575, rs121913273, rs587776932, rs1724343994	RCV005429355 RCV001836707 RCV001836817 RCV003993951 RCV001836714 RCV001836717 RCV001836980	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PIK3C1-related disorder	Pathogenic	rs587776932	RCV005222712	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PIK3CA overgrowth syndrome	Likely pathogenic; Pathogenic	rs104886003, rs121913281	RCV004698419 RCV004698336	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PIK3CA related overgrowth syndrome	Likely pathogenic; Pathogenic	rs200018596, rs1242945375, rs1724342112, rs2108429272, rs587777790, rs2108429509, rs121913283, rs1278986760, rs863225060, rs121913275, rs2108424082, rs2473511125, rs2473524076, rs121913279, rs121913286, rs104886003, rs121913274, rs587776802, rs2473511270, rs397517201, rs121913287, rs121913284, rs1057519925, rs867262025, rs1057519929, rs1057519942, rs121913273, rs121913272, rs1064793349, rs1064793732, rs587776932, rs397514565, rs121913281, rs1553821144, rs397517199, rs397517202, rs1560137609, rs1576935161, rs1724341846, rs1724343994, rs1432181034	RCV003458229 RCV003234076 RCV002271660 RCV002472380 RCV004719712 RCV003157111 RCV000201237 RCV005251326 RCV000201238 RCV000201236 RCV000201234 RCV003233340 RCV003458258 RCV003458278 RCV000201231 RCV000201235 RCV005251037 RCV001290591 RCV004562209 RCV000201230 RCV003458189 RCV005862715 RCV004566500 RCV004719812 RCV005251518 RCV002274026 RCV003458198 RCV002472374 RCV003233633 RCV003458199 RCV003985084 RCV003458190 RCV000201232 RCV003233647 RCV005251138 RCV003233078 RCV000201233 RCV003233079 RCV005251158 RCV003458192 RCV003458193 RCV003458194 RCV000714877 RCV003233916 RCV001289462 RCV001289461 RCV001289460	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PIK3CA-related disorder	Likely pathogenic; Pathogenic	rs200018596, rs1724342112, rs2108413895, rs863225060, rs1553826166, rs121913279, rs104886003, rs1057519925, rs121913273, rs121913272, rs1064793732, rs587776932, rs397514565, rs587776933, rs397517199, rs1724343994	RCV002280185 RCV004528517 RCV004725294 RCV004737318 RCV004529279 RCV004737153 RCV005867755 RCV002244865 RCV004532404 RCV005867798 RCV004535503 RCV004737167 RCV004532477 RCV006270342 RCV004534818 RCV004727079	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PIK3CA-related overgrowth	Pathogenic	rs121913273	RCV003987334	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PIK3CA-Related Overgrowth Spectrum Disorders	Pathogenic	rs121913279	RCV005051734	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilocytic astrocytoma	Pathogenic	rs121913287	RCV006253972	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate cancer	Pathogenic	rs121913286	RCV000205164	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare combined vascular malformation	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs121913272	RCV004527291 RCV004527295 RCV004527297	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare venous malformation	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs121913273, rs1724343994	RCV004527290 RCV004527294 RCV004527296 RCV004527421	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rosette-forming glioneuronal tumor	Likely pathogenic; Pathogenic	rs2108424082, rs121913279, rs104886003, rs121913284, rs121913273	RCV006254367 RCV000487449 RCV006253565 RCV006253570 RCV006253976 RCV006253684	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Likely pathogenic; Pathogenic	rs104886003	RCV000119356	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seborrheic keratosis	Pathogenic; Likely pathogenic	rs121913279, rs104886003	RCV000014628 RCV000014636	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Segmental undergrowth associated with lymphatic malformation	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs121913272	RCV001705590 RCV001705591 RCV001705599	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Segmental undergrowth associated with mainly venous malformation with capillary component	Likely pathogenic; Pathogenic	rs2108424902, rs121913279, rs121913286, rs121913281	RCV001706733 RCV001705589 RCV001705592 RCV001705625	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sialoblastoma	Pathogenic	rs121913281	RCV006253703	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Likely pathogenic	rs1724363237	RCV001250948	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stroke disorder	Pathogenic	rs121913279	RCV000626894	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vascular malformation	Likely pathogenic; Pathogenic	rs863225060, rs121913273	RCV006253883 RCV006253685	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenal cortex carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BECKWITH-WIEDEMANN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAPILLARY-LYMPHATIC-VENOUS MALFORMATION WITH SEGMENTAL DISTRIBUTION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAVERNOUS HEMANGIOMA OF BRAIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral cavernous malformation 4	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL CAVERNOUS MALFORMATIONS 4	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ARTERIOVENOUS MALFORMATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DUPLICATION OF INTESTINE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEMIHYPERTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MALFORMATION SYNDROMES INVOLVING EARLY OVERGROWTH	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corpus callosum, agenesis of	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COWDEN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectopic tissue	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Facial asymmetry	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CEREBRAL CAVERNOUS MALFORMATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal-onset seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIFACIAL MYOHYPERPLASIA	—	ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIHYPERPLASIA WITH MULTIPLE LIPOMATOSIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemimegalencephaly	Conflicting classifications of pathogenicity	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEREDITARY BREAST CARCINOMA	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Histone Methylation Therapy response	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPLASIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLIPPEL TRENAUNAY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLIPPEL-TRENAUNAY-WEBER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	ClinVar, HPO ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, LARGE B-CELL, DIFFUSE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYNCH SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENINGIOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	ClinVar, HPO ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Overgrowth	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENILE NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic kidney disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyosarcoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, FOCAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SOTOS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA OF HEAD AND NECK	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS MALFORMATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION, LEFT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEAVER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-4 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	BEFREE	28737257		★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	27299186		★☆☆☆☆ Found in Text Mining only
ACTIVATED PI3K-DELTA SYNDROME	ACTIVATED PI3K-DELTA SYNDROME	BEFREE	27116393, 27616589, 28167755, 28842185, 29556229, 30116245, 31031754		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	20445019		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	12556562, 15608678, 16115127, 23705826, 24966925, 30639430, 31412710		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	18483299, 18665177, 22685175, 23958920, 24244612, 26080839, 27018341, 28125433, 28159681, 28295182, 29179029, 29574283, 30669372, 30795552, 31705930		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	26999641, 29143813, 29276026, 29559471, 31217869		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	29620213, 30694771, 31414732, 31531867		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	18491231, 24676995, 27840989, 30316766, 31032633		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	12097266, 14695323, 16380997, 16772787, 16930767, 18084252, 18757405, 20103678, 22430133, 22484628, 22768234, 23136191, 23196793, 23335533, 23876834, 24037752, 24500884, 24533074, 25019985, 25220666, 25426553, 25473901, 25477232, 26085527, 26197069, 26811072, 26997442, 27080983, 27105424, 27334835, 27845189, 28188750, 28755461, 28845578, 29113722, 29186353, 29300353, 30429033, 30542835		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	16380997, 16815198, 16930767		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	21943101, 25012123, 29651943, 30207238		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	16320248, 16380997, 25435423, 27105424, 28867195		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	CTD_human_DG	23525077		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	27176231, 30321514		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	20855837, 22135231, 22684718, 22707299, 23098378, 23629727, 23976985, 24117074, 24469055, 24482365, 24762440, 25596284, 26023239, 26098749, 26334752, 26791794, 27007084, 27554588, 27687306, 27734950, 27822469, 27846317, 28009353, 28049093, 28223119, 28351312, 28503373, 28755461, 29156674, 29384143, 29483824, 29516506, 29558998, 29581789, 30021836, 30541897, 30590030, 30791942, 30815935, 30830869, 30849291, 31264215, 31323040, 31436252, 31545501, 31599423, 31646571		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	22135231		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	17671718, 21678117, 23950591		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	BEFREE	27259009, 29224720		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	19234438, 26045339		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	26095796, 30269363		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adenoid Cystic Carcinoma	Adenocarcinoma	CLINVAR_DG	26619011		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adenoma	Adenoma	BEFREE	19440799, 19697359, 21932420, 27441415, 27941887, 28755461, 29339153		★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	BEFREE	29224720		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	17546593, 23034650, 23708654, 25571954, 28184015, 28513830, 30620391, 31024258, 31414579		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	21225506		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	22692904, 23889685, 26717940, 27811202, 29075302, 30217997		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	25078331	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	30457983		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	18483299, 22685175, 23958920, 26080839, 28125433, 28159681, 29179029, 29574283, 30669372, 30795552		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	18382359, 20443680, 22609116, 24418330, 24938766, 25215588, 25909227, 26460954, 27348272, 28461758, 28756223, 29137222, 30820547		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	ORPHANET_DG	15608678		★☆☆☆☆ Found in Text Mining only
Adult hepatocellular carcinoma	Liver carcinoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	15289331, 17375124, 30352904		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	16398471, 16707597, 18281460, 21652733, 24584142, 25601471, 25915540, 28159923, 28598542, 29377550, 29682173, 29805559, 30050750, 30842251, 31492956		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	30975663		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	24569712, 26269411, 29077243, 31744878		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	21964287, 23441106		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	17669465, 26011570, 28230926		★☆☆☆☆ Found in Text Mining only
Agnosia	Agnosia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aicardi Syndrome	Aicardi syndrome	Pubtator	26011570	Associate	★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	27776349		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	21625490, 29885866		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	24641407		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	15192701		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	29388014, 35689405	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	28844000, 28971495, 30345917, 31237881		★☆☆☆☆ Found in Text Mining only
Anal carcinoma	Anal Cancer	BEFREE	27219019, 27388585, 30530704, 30582752, 30888976		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	26266975		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	17235514		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	15289301		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	15899946, 16288007, 17317825, 17638058, 17989125, 18492751, 20578891, 22190384, 23386415, 24423316, 24770869, 25016932, 25347569, 26477313, 27618325, 27797976, 28600475, 29301825, 29487290, 30243708, 30699064		★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	35732329	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	24569456		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	34303217	Associate	★☆☆☆☆ Found in Text Mining only
Angioid Streaks	Angioid streaks	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	27369867		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	Pubtator	31290289	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	28696014		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	33457080, 36835617	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	17483325, 20876794, 21829709, 21984975, 23453624, 24895459, 25452273, 25673820, 26158412, 26219899, 27339327, 27705906, 28176634, 28423617, 28544376, 28574828, 29040676, 29386088, 29670543, 29898401, 30065098, 30087712, 30233242, 30243721, 30261145, 30396902, 30896829, 31088502, 31153980, 31452773		★☆☆☆☆ Found in Text Mining only
Anus Neoplasms	Anus neoplasm	Pubtator	27219019	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29123158, 30905780, 31170866		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	30037818, 30635471, 31636720		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	29137319		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	17669465, 26011570, 28230926		★☆☆☆☆ Found in Text Mining only
Apocrine adenoma	Apocrine Adenoma	BEFREE	29241739		★☆☆☆☆ Found in Text Mining only
Apparent mineralocorticoid excess	Apparent Mineralocorticoid Excess	BEFREE	31094929		★☆☆☆☆ Found in Text Mining only
Apparent mineralocorticoid excess	Mineralocortocoid excess	Pubtator	32355271	Associate	★☆☆☆☆ Found in Text Mining only
Argininosuccinic Aciduria	Argininosuccinic aciduria	Pubtator	31796844	Associate	★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	BEFREE	31363831		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	30872976		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17255531, 25849952, 27919735, 28461772, 29177114, 29203244, 29414040, 29668625, 30887395, 30891776, 31035012, 31159424, 31187710, 31214032, 31237148, 31306371, 31609302		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	34887309	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	24385683, 28733141, 29328461, 30954464		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	25880754	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	26748475		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	22015454, 22981793, 23428345, 24583134, 27556731, 28293189, 28746467, 29504610, 29554934, 30146725, 30149919, 30334401, 30406061, 30478434, 30542075, 31323822, 31747880		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35501805	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	15289301, 20569675, 21125662, 23370326, 24714777		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	LHGDN	15289301		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	25047029, 26680641, 34193285, 37667984	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	18492751, 23201008, 31189575		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17255531, 25849952, 27919735, 28461772, 29177114, 29203244, 29414040, 29668625, 30887395, 30891776, 31035012, 31159424, 31187710, 31214032, 31237148, 31306371, 31609302		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30664154		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	19458356		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	19458356		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	19898424, 22705004, 24186142		★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	17506723		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	19545994, 21837366, 23269408, 26770665, 30061744, 31007884		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	16675386, 26770665		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22840496, 26324350, 26658520, 27791035, 28713374, 29109121, 29115519, 29246441, 29492193, 29867948, 30429249, 30498491, 30666254, 30799802, 30921706, 31031754, 31076529		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	28434922		★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	26593112, 32500425	Associate	★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	28115173		★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	31534468		★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	18704194		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	17657213, 18382359		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	23300274, 23403624, 24920406, 25124606, 25862915, 26549638, 27974663, 28147336, 28693262, 28945111, 29029507, 29042957, 29201192, 29328385, 29414639, 29423015, 29518396, 29774105, 29781323, 29916537, 30061946, 30127928, 30178865, 30278824, 30472432, 30549430, 30609049, 30679990, 30783438, 31111379, 31115571, 31239698, 31389591, 31547366, 31552178, 31583927, 31601188, 31618892		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	20534739, 29709906		★☆☆☆☆ Found in Text Mining only
Bannayan-Riley-Ruvalcaba Syndrome	Bannayan-Riley-Ruvalcaba Syndrome	BEFREE	17405772		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	16380997		★☆☆☆☆ Found in Text Mining only
Basal Cell Neoplasm	Basal Cell Neoplasm	BEFREE	29224720		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of central nervous system	Benign Neoplasm Of Nervous System	HPO_DG			★☆☆☆☆ Found in Text Mining only
Benign neoplasm of stomach	Benign Neoplasm Of Stomach	CGI_DG			★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	29456672, 30295140, 30900311		★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	27020207		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	25742482, 26498688, 28693246, 29024814, 29416916, 29474549, 30370571		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	26498688, 30908307, 36089135, 36715178, 37341068	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	19196980		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	16885334, 17673550, 19789314, 19875696, 20354165, 22285928, 22417847, 22906492, 23300058, 24347284, 24442130, 24952510, 25349966, 25812440, 26312564, 26597249, 26901314, 27611947, 27726892, 27823983, 28060766, 28069289, 28647190, 28808038, 28889395, 29070760, 29190973, 29353467, 29357370, 29383014, 29454321, 29670371, 29725263, 29749527, 30845932, 30941989, 31298367, 31527329, 31605287, 31692549, 31696468		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	16885334		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	30063105		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	30063105	Associate	★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	33772212	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	23248156	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	30471112		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	36567775	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	23248156, 27631024, 28151489, 35857185	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	31173224		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	15289301, 16288007, 20473884, 21861842, 24162827, 27553832, 27926496, 27935819, 28292440, 28556811, 29326882, 29718345, 30018387		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	20604919, 25970776, 31882734, 34499316	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Brain Stem Glioma	Brain Stem Glioma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	29651943		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast adenocarcinoma	Breast Adenocarcinoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Breast cancer, lobular	Breast Cancer	BEFREE	22997091		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11507039, 11597319, 11706404, 12670921, 12866037, 12970748, 15001399, 15254419, 15367412, 15472226, 15520168, 15580312, 15608678, 15805248, 15837735, 16168105, 16168140, 16317585, 16322248, 16353168, 16424042, 16582596, 16755107, 16951146, 17314276, 17452630, 17575221, 17936563, 17947469, 17990317, 18074223, 18183466, 18371219, 18498248, 18518979, 18652687, 18676830, 18679714, 18725974, 18794883, 18798071, 18951408, 19027487, 19148520, 19276248, 19366795, 19395875, 19567590, 19609946, 19633047, 19661335, 19671852, 19685490, 19701705, 19706770, 19751211, 19861897, 19881546, 19882362, 19946332, 20007781, 20107891, 20112503, 20130907, 20372866, 20424113, 20453058, 20471474, 20479250, 20480226, 20530877, 20538763, 20551053, 20569503, 20664923, 20803067, 20940279, 21076301, 21209903, 21216892, 21278436, 21345071, 21358673, 21362200, 21406469, 21420991, 21558396, 21617917, 21676217, 21775521, 21822287, 21904903, 21932171, 21946274, 22033276, 22060274, 22094188, 22114931, 22262199, 22266096, 22302350, 22315990, 22329846, 22330809, 22370636, 22414288, 22421194, 22454081, 22488590, 22534171, 22640628, 22705004, 22710837, 22744290, 22841774, 22915751, 22922893, 22938585, 22952425, 22960556, 23063927, 23085752, 23089982, 23092874, 23184205, 23222510, 23248119, 23301057, 23314198, 23319441, 23343422, 23352210, 23384338, 23389849, 23448424, 23532889, 23592373, 23612454, 23635776, 23643661, 23663564, 23792451, 23814023, 23888070, 23903756, 23982433, 24001613, 24011769, 24121471, 24170767, 24193002, 24229379, 24269953, 24277465, 24356815, 24403602, 24444464, 24467828, 24470511, 24471188, 24477928, 24493024, 24501315, 24590635, 24601221, 24706460, 24722917, 24739482, 24756995, 24782652, 24836190, 24879796, 24908061, 24918944, 24920352, 24924774, 24947048, 24981670, 24991009, 25002028, 25027743, 25036402, 25051360, 25056500, 25071141, 25104442, 25127034, 25155268, 25176561, 25192370, 25199759, 25201346, 25327287, 25355053, 25379017, 25398847, 25401474, 25422220, 25458846, 25491778, 25542038, 25542856, 25559818, 25566992, 25586125, 25679062, 25702787, 25736040, 25760096, 25801958, 25816324, 25877889, 25961924, 25979232, 25979484, 26001593, 26095475, 26105797, 26116361, 26134759, 26191181, 26194618, 26208487, 26215189, 26239613, 26245675, 26260992, 26266975, 26266985, 26267533, 26289070, 26316702, 26353837, 26452060, 26515594, 26540293, 26595803, 26643256, 26676464, 26681740, 26733612, 26743283, 26758558, 26771497, 26810975, 26813108, 26827608, 26839307, 26840401, 26895380, 26907767, 26915040, 26921096, 26939876, 26945854, 26968397, 26995633, 27004402, 27015560, 27059323, 27088857, 27108388, 27171498, 27197157, 27211281, 27221510, 27265061, 27282497, 27283966, 27336598, 27369359, 27374081, 27384237, 27426307, 27491861, 27553366, 27563827, 27581627, 27582428, 27600857, 27604488, 27626181, 27639383, 27771839, 27803006, 27811364, 27835884, 27848885, 27864123, 27901576, 27903677, 27925203, 27928955, 27940576, 27941987, 28029147, 28060760, 28123607, 28160548, 28165066, 28176176, 28196852, 28228253, 28231748, 28269754, 28276317, 28296140, 28296189, 28336670, 28381172, 28382169, 28383549, 28392480, 28393905, 28396358, 28407679, 28418910, 28423632, 28427202, 28446508, 28454214, 28459209, 28486103, 28495456, 28498520, 28513879, 28518139, 28533273, 28539475, 28576675, 28599470, 28600142, 28756150, 28779263, 28783168, 28791358, 28791363, 28810530, 28843257, 28854595, 28856747, 28861172, 28881779, 28884749, 28886403, 28902361, 28910567, 28915591, 28923573, 28929029, 28945826, 28969041, 28991258, 29086897, 29097657, 29100327, 29103666, 29107429, 29110152, 29127189, 29128895, 29130495, 29169282, 29170395, 29242214, 29252036, 29259101, 29262587, 29284706, 29310608, 29316252, 29345357, 29355544, 29399197, 29401002, 29430197, 29470143, 29476223, 29482551, 29504069, 29523855, 29524295, 29540052, 29545474, 29550144, 29550515, 29568883, 29574068, 29575819, 29599830, 29603332, 29636477, 29651943, 29689598, 29700210, 29708279, 29715106, 29721370, 29725474, 29736694, 29737572, 29774109, 29791862, 29792310, 29808803, 29851245, 29863252, 29868122, 29902286, 29906308, 29925528, 29928143, 29942081, 29942710, 29951132, 30003928, 30038508, 30038517, 30038706, 30076411, 30078647, 30103105, 30109561, 30126855, 30148117, 30207238, 30207362, 30212931, 30220978, 30266800, 30272349, 30287915, 30315845, 30318472, 30357946, 30368861, 30426328, 30443844, 30454896, 30483746, 30515357, 30515835, 30518672, 30540926, 30542378, 30578411, 30628639, 30652258, 30652303, 30662797, 30671946, 30678711, 30737233, 30767161, 30777364, 30796030, 30806788, 30820547, 30880072, 30888406, 30898150, 30903140, 30930461, 30943409, 30991934, 31005809, 31006103, 31018950, 31104012, 31124219, 31142739, 31159599, 31173106, 31174159, 31195751, 31235687, 31254443, 31256368, 31257479, 31262687, 31270600, 31277699, 31313132, 31317673, 31320990, 31322299, 31359335, 31391067, 31408722, 31417306, 31417861, 31425802, 31448883, 31464004, 31534012, 31539632, 31552922, 31594766, 31636652, 31660072, 31660083, 31683659, 31688991, 31696760, 31699932, 31710162, 31751581, 31761784, 31781306, 31786856, 31787861, 31798622, 31822498, 31824171, 31828441		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	19196980, 19685490, 20479250, 21633166, 22370636, 25267515, 25358515, 26587011		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Neoplasms	Breast neoplasm	Pubtator	15254419, 16168105, 16278669, 16582596, 17224074, 17314276, 17936563, 17990317, 18371219, 18676830, 19027487, 19366795, 19435916, 19573809, 19633047, 19706770, 19844788, 19898424, 20007781, 20169162, 20177704, 20479250, 20551053, 20581867, 20940279, 21124076, 21209903, 21708979, 22033276, 22172323, 22271473, 22302350, 22330809, 22421194, 22460814, 22538770, 22736407, 22938585, 23000897, 23049944, 23063927, 23085752, 23092874, 23184205, 23301057, 23317280, 23541593, 23612454, 23613387, 23895914, 23982433, 24175777, 24229379, 24416132, 24444464, 24467828, 24634376, 24722917, 24782652, 24883302, 24887297, 24918944, 24947048, 24981670, 25056500, 25195596, 25422220, 25467032, 25539732, 25542038, 25583473, 25757876, 25816324, 25993174, 26011570, 26099045, 26181325, 26208487, 26238439, 26301495, 26353837, 26452060, 26474971, 26527317, 26600545, 26630576, 26686201, 26708016, 26743283, 26810975, 26813108, 26915040, 27028851, 27070496, 27108388, 27126994, 27161491, 27177864, 27197157, 27220763, 27283966, 27334837, 27491860, 27491861, 27512948, 27581127, 27604488, 27771839, 27806348, 27811364, 27852271, 27925203, 28027327, 28029147, 28060271, 28196852, 28223411, 28247844, 28269754, 28330468, 28392480, 28393905, 28427202, 28472234, 28486103, 28858218, 28874413, 28902361, 28923573, 28945826, 29110152, 29177603, 29259101, 29322935, 29454754, 29470143, 29482551, 29523855, 29537649, 29540052, 29559730, 29603332, 29636477, 29689598, 29689710, 29739401, 29807833, 29906308, 30212483, 30239581, 30305115, 30426328, 30443844, 30518672, 30543347, 30652258, 30715161, 30723140, 30776175, 30805870, 30806788, 30811755, 30860570, 30867034, 30991934, 31018950, 31088410, 31254443, 31270600, 31277699, 31385461, 31420779, 31554385, 31575382, 31638213, 31693690, 31699932, 31704974, 31754145, 31799667, 31801599, 31867841, 31980592, 32019278, 32067679, 32079541, 32088208, 32091409, 32123305, 32165708, 32176735, 32213086, 32326897, 32352244, 32404150, 32410843, 32441016, 32558176, 32591580, 32620236, 32638235, 32671987, 32707446, 32811538, 32864625, 32881420, 32929011, 32958578, 33024087, 33047659, 33051521, 33059724, 33082214, 33148628, 33166334, 33168657, 33186740, 33191115, 33246021, 33274848, 33293374, 33303839, 33386585, 33441174, 33455095, 33529175, 33541297, 33596424, 33602685, 33632156, 33669698, 33692304, 33692409, 33723724, 33780274, 33782032, 33854067, 33854152, 33893247, 33893289, 33922925, 33947692, 34016182, 34097174, 34268930, 34287479, 34327780, 34364397, 34408553, 34415239, 34453076, 34454403, 34499316, 34754095, 34762647, 34779146, 34842356, 34849446, 34876496, 34876602, 34888385, 35053185, 35101884, 35121623, 35138919, 35383130, 35438321, 35442400, 35450798, 35465733, 35468270, 35562750, 35621626, 35682999, 35702891, 35732329, 35739315, 35778737, 36038884, 36088510, 36097803, 36279023, 36292649, 36321996, 36323880, 36367572, 36404592, 36446041, 36595567, 36626159, 36709040, 36805828, 36826152, 36892268, 36913051, 36934165, 36970726, 37086897, 37094468, 37101291, 37106324, 37195967, 37239898, 37344660, 37348428, 37463468, 37501598, 37511178, 37600707, 37658527, 37682166, 37715134, 37747019, 37784176, 37834269, 37902422, 37925055, 37965796, 38017109, 38042496, 38087296, 38117494, 38159086, 38229073, 38231165, 38403109, 38518529, 38523186, 38531793, 38582077, 38603927, 39197004, 39208653, 39235099, 39336800, 39342926, 39596311, 39742376, 39849870, 40121945, 40305907, 40327992, 40403210, 40472482, 40513140, 40536266, 40597213	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Male	Male breast neoplasms	Pubtator	23971979, 25490678, 26960396, 27765917, 31340200	Associate	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	14734735, 22897848, 23603894, 24577510, 28619753, 29463831, 29774105, 30333121, 30617194, 30881494, 31719683		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	29326158		★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	18789327, 24041865		★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	29453410	Associate	★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	BEFREE	25557259, 31172613, 31830321		★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	11351043, 15254419, 16533766, 16582596, 17990317, 18221484, 18782444, 19237633, 19573809, 22258409, 22357840, 23449277, 24642661, 25415225, 26019684, 26889984, 27998038, 28196852, 29206892, 29636477, 29902261, 30229897, 33247697, 35474604, 36843384, 37463468, 37591832	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	22949056	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11358835, 11959846, 12569555, 12874030, 15520168, 15548710, 15608678, 15994075, 16721043, 17351921, 17546593, 18084252, 18181165, 18208621, 18242762, 18604870, 18782444, 19029838, 19055754, 19148475, 19234438, 19440799, 19697359, 20103642, 21051183, 21310649, 21317880, 21423156, 21531001, 21663621, 21735444, 22157930, 22460814, 22705003, 22923510, 22955107, 22969158, 23056620, 23172887, 23352210, 23541593, 23588386, 23851329, 23986086, 24186142, 24338723, 24557434, 25081752, 25426553, 25466966, 26053092, 26276776, 26325104, 26336887, 26975040, 27017985, 27351214, 27379604, 27465249, 27554588, 27738081, 27834349, 27873319, 28231576, 28498284, 28551389, 28755461, 29035827, 29156516, 29443014, 29946183, 29975246, 30075505, 30105951, 30206202, 30252727, 30289966, 30496799, 31028363, 31139940, 31752936		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	26339434, 28731042	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	17669465	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	25473901, 31896809	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	19898424, 22252965, 23589849, 27108388, 30652258, 30813596, 33263939, 33443130	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	28269754	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	18084252, 19234438, 22653804, 23174937, 28002804, 30315273, 32187665, 33256706, 33475035, 35278272, 35699480, 37773079	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21667306, 22190283, 22258409, 23709421, 24931142, 26708293, 26823876, 27602769, 27955658, 28302680, 29285854, 29487225, 31132019, 31363003, 31796844, 32298608, 35277182, 35812416, 37769223	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of stomach	Stomach Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	19475528		★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	22252965, 23541593, 24186142, 24634376, 26249178, 26718977, 27581127, 28338653, 31420779, 31989433, 33263939, 33443130, 33795819, 38523186, 40629431	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	22949056, 23196793, 26317919, 26430808, 30978501	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	24186142, 26643573, 33441174, 35477749, 37341201	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	22261808, 22363598, 26238782, 26743471, 26981779, 36602798	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	28327999	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of ampulla of Vater	Ampullary Carcinoma	BEFREE	27611608, 29807574		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16885334, 19789314, 19875696, 20354165, 22285928, 22417847, 22906492, 23300058, 24347284, 24442130, 24952510, 25349966, 25812440, 26312564, 26597249, 26901314, 27726892, 27823983, 28042869, 28069289, 28647190, 28808038, 28889395, 29070760, 29190973, 29353467, 29357370, 29383014, 29670371, 29725263, 29749527, 30845932, 30941989, 31298367, 31527329, 31605287, 31638167, 31692549, 31696468		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	26238658, 26600164, 27373675, 29085504, 29299828, 29312563, 30464533		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12097266, 12714585, 16930767, 17409929, 17803655, 17992665, 19337377, 19394761, 20375364, 20596634, 20811722, 20818420, 20959404, 21220474, 21688263, 21861134, 21996732, 22363436, 22941571, 23045273, 23111416, 23172887, 23335533, 23370426, 23449277, 23454899, 23532889, 23728071, 23955080, 24085243, 24453288, 24469108, 24472538, 24533074, 24743704, 24771645, 24788552, 24972969, 25153497, 25266803, 25273224, 25473901, 25524703, 25573345, 25673697, 25738369, 25745045, 25861627, 26013318, 26517240, 26567140, 26645682, 26708016, 27041574, 27121230, 27177359, 27221310, 27881463, 27930981, 28108151, 28125432, 28173828, 28259980, 28336809, 28356026, 28662101, 28748356, 28782471, 28847905, 28901268, 29115573, 29132432, 29171984, 29269744, 29304903, 29328421, 29504919, 29508110, 29516506, 29616103, 29620222, 29669316, 29864375, 29888431, 29961813, 30058690, 30190703, 30344755, 30365050, 30431081, 30481052, 30528264, 30590030, 30779080, 30787353, 30806240, 30825612, 30896825, 31100334, 31115514, 31128006, 31262325, 31337981, 31452780, 31748336		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	23971979, 27765917, 27986751		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19638206, 22635024, 32599986, 33475035, 33834328, 34615547	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	30836094, 34033220	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19349352, 21834980, 25081752, 26043110, 27174587, 27581127, 28029662, 28718916, 29353061, 29506494, 32279409, 33023600, 34615547, 36857998, 36932108	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	24422746, 28951314, 30717682, 33888337, 33980813, 34952423, 36812376	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	11959846, 18757405, 20557351, 20881644, 22067401, 22228640, 22768234, 23196793, 23451093, 24299561, 24323028, 24500884, 24533074, 24642661, 25072932, 25220666, 25384882, 25426553, 25473901, 25589618, 25724524, 25738363, 26030731, 26080840, 26197069, 26358014, 26430808, 26479420, 26670666, 27007084, 27145277, 27219019, 27374168, 27834349, 28581676, 28954785, 29186353, 29902261, 29980281, 30446465, 30978501, 31158500, 31299995, 31481045, 31911548, 31952518, 32098697, 33219256, 34650187, 34779821, 35253909, 36333792, 36357817, 36562592, 36869079, 37249797, 37316414, 37469197, 37565840, 37821306, 37908048, 38086165, 38150257, 39333222	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	39222919	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	19122450, 20557351, 22082146, 27982029, 30675221		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	CTD_human_DG	26950094		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	23765252, 24262879, 24557434		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	25441311, 26087898, 26226847, 29545879		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11531284, 11706404, 12874030, 15520168, 15837735, 16452192, 16545436, 16721043, 17178867, 17377809, 17875760, 18270270, 18335034, 18794094, 19029838, 19151754, 19172191, 19240718, 19638206, 20661217, 21372221, 22340595, 22585163, 22955107, 23371322, 23408974, 23499052, 23591839, 23652833, 23680521, 23708104, 23970345, 24011934, 24022196, 24115647, 24237932, 24247248, 24718516, 25216292, 25370471, 25405658, 25677064, 25776272, 25852062, 26159849, 26279473, 26657155, 26909613, 26983899, 27082164, 27681437, 27840916, 28002999, 28350104, 28574782, 28770968, 29113199, 29286125, 29371953, 29401696, 29743815, 29909423, 29930760, 29996940, 30129654, 30237504, 30245957, 30448218, 30542723, 30697076, 30755818, 30880072, 30909184, 30925458, 30941821, 30972187, 31128298, 31173282, 31234823, 31284467, 31288947, 31371979, 31629932, 31638241, 9916799		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	26925640		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	21168197, 22653804, 27105424, 31688243		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	22653804, 25078343, 28940304, 30194005, 32114514, 37530323	Associate	★☆☆☆☆ Found in Text Mining only
Cardiac diverticulum	Cardiac Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	17404510, 29156374, 30567315, 31806860, 9160875		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	17202264, 30568254, 30776465		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	17202264, 22252965, 23589849, 30070262, 30216493, 30776465, 30789657, 31572181		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	BEFREE	30941910		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	26658520, 28729453, 29376419, 29502072, 30066927, 31016532, 31187710, 31360208		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32352244	Associate	★☆☆☆☆ Found in Text Mining only
Carnitine Palmitoyltransferase II Deficiency Infantile	Carnitine palmitoyltransferase deficiency	Pubtator	28566443, 37974153	Associate	★☆☆☆☆ Found in Text Mining only
Cat eye syndrome	Cat Eye Syndrome	BEFREE	16331247		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	31178586, 31685084		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
CATARACT, COPPOCK-LIKE	Cataract	BEFREE	27581127		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	28434922		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	35208504	Associate	★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	29486290, 30677238		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	27926496		★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	BEFREE	30057669		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Cerebellar ataxia and hypogonadotropic hypogonadism	Pubtator	40536266	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Granule Cell Hypertrophy and Megalencephaly	Cerebellar Granule Cell Hypertrophy And Megalencephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
CEREBELLOPARENCHYMAL DISORDER VI	Cerebelloparenchymal Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	22119079, 28395173, 28402976, 28478514, 29272009, 29917203, 29981053, 30015915, 30073508, 30156477, 30245466, 30662601, 31265179, 31298389, 31389591, 31836786		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	38013375	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	29102966		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	15573409, 24797366, 28785051, 31143233, 31595881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	BEFREE	10851074, 12122098, 18180098, 20657188, 21663621, 22229477, 22235101, 23266353, 23899375, 25135429, 25310288, 25738254, 25962638, 26183061, 26358014, 26802646, 27388585, 28036259, 28475243, 28587748, 28864978, 29175387, 29236322, 29312623, 29316891, 29328485, 29423104, 29777148, 29898430, 30006571, 30075505, 30127216, 30272334, 30459531, 30480801, 30547809, 30552693, 30619121, 30641218, 30952619, 31056260, 31210294, 31295843, 31350972, 31545455, 31666350		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	25738363, 26379150		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	10851074, 12122098, 20657188, 21663621, 22229477, 22235101, 23266353, 23899375, 25135429, 25310288, 25738254, 25962638, 26183061, 26358014, 26802646, 27388585, 27468883, 28036259, 28386355, 28475243, 28587748, 28864978, 29175387, 29236322, 29312623, 29316891, 29328485, 29423104, 29777148, 29898430, 30006571, 30075505, 30127216, 30272334, 30459531, 30480801, 30547809, 30552693, 30619121, 30641218, 30952619, 31056260, 31210294, 31295843, 31350972, 31545455, 31666350		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	18483299, 22685175, 23958920, 26080839, 28125433, 28159681, 29179029, 29574283, 30669372, 30795552		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	16398471, 16707597, 18281460, 21652733, 24584142, 25601471, 25915540, 28159923, 28598542, 29377550, 29682173, 29805559, 30050750, 30842251, 31492956		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	30975663		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	17461449, 23391413, 25826091, 28670110, 29599344, 30008846, 30514341, 30591492		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24563076, 24867389, 24889489, 28694672, 30908307, 35070505, 35986087	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	35897137, 36252869	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	28500348, 29191461		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	31663994		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	37272638	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma Middle Ear	Middle ear cholesteatoma	Pubtator	37272638	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	21344378, 23714727, 23922104, 25301739		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	19401700, 23533570, 28753115		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	23533570, 24983247	Associate	★☆☆☆☆ Found in Text Mining only
Chorea Acanthocytosis Syndrome	Chorea	BEFREE	29253590		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	19549922, 26093985, 27714811		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	29353061		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	23165447	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28421341, 29049990, 30215298, 31189876		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	18665177, 18784741, 20534739, 20660292, 20861921, 22623730, 23482887, 24229693, 24825182, 25258342, 25430416, 25917267, 26350103, 26889681, 27040704, 28061982, 28112970, 28192408, 28257435, 28388280, 28489572, 28835371, 28942659, 28945111, 29122897, 29179250, 29246942, 29479062, 29480432, 29855199, 30134797, 30182737, 30457982, 30558987, 30967392, 31203516, 31216925, 31462739, 31519585, 31710039, 31831562		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Chronic mountain sickness	Mountain sickness	BEFREE	29176544		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	22227528, 22806893, 24237791, 24251790, 24290217, 26062813, 26275051, 30730307		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	22015454, 23029326, 26617776, 28522564, 29191607, 29557740, 30066869, 30115538, 30741829, 30827233, 30860857		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	31351582		★☆☆☆☆ Found in Text Mining only
Chronic venous insufficiency	Venous Insufficiency	BEFREE	30057669		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	24782230	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	27056978		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	23894275, 24425104		★☆☆☆☆ Found in Text Mining only
CLAPO Syndrome	CLAPO Syndrome	GENOMICS_ENGLAND_DG	19011570		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CLAPO Syndrome	CLAPO Syndrome	UNIPROT_DG	29446767		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CLAPO Syndrome	Clapo syndrome	Pubtator	29446767	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CLAPO Syndrome	CLAPO Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Classical Lissencephalies and Subcortical Band Heterotopias	Lissencephaly	Pubtator	27108388	Associate	★☆☆☆☆ Found in Text Mining only
Clear cell adenocarcinoma of ovary	Ovarian adenocarcinoma	BEFREE	21735444, 22120431		★☆☆☆☆ Found in Text Mining only
CLOVES syndrome	CLOVES Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cognition Disorders	Cognitive disorder	BEFREE	28342896, 28599877, 29290948, 29516284, 29723552, 30175975, 31004737, 31281447		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	36229517	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	20580720, 23867870, 28587873, 30385297, 30920609		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	28524162	Associate	★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10625637, 12473596, 15930273, 15994075, 16153452, 16772787, 17363507, 17575153, 18064605, 18339877, 18627290, 19237633, 19572978, 20204404, 21713600, 22543857, 22752425, 23251002, 23572025, 23593290, 23708654, 23792451, 23878352, 24231454, 24339949, 24355100, 24398569, 24756222, 24930890, 25199763, 25314071, 25541970, 25554016, 25641861, 25695693, 25732087, 25884297, 26225471, 26350096, 26471487, 26553611, 26615871, 27671687, 28259918, 28432271, 28782499, 28811711, 28881576, 28901259, 28928860, 28979133, 29094948, 29130099, 29169325, 29305742, 29523145, 29556349, 29560517, 30023564, 30195873, 30257389, 30396937, 30551398, 30941956, 30944457, 30963391, 31500630, 31510692, 31596728		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	28755461	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	17148604, 18339877, 20622004, 21966435, 23572025, 31830892		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18224685		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	20551061, 28755461, 31876604, 35731998, 36812376	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	18782444	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12473596, 15183529, 15289301, 15520168, 15592509, 15930273, 15950905, 15994075, 16094359, 16150444, 16357568, 16772787, 17183069, 17546593, 17590872, 17990317, 18022911, 18193083, 18375489, 18516290, 18619647, 18628094, 18782444, 19223544, 19412426, 19697359, 19731079, 19738166, 19789368, 19806185, 19885597, 20130434, 20507599, 20571907, 20652941, 21102582, 21199803, 21424126, 21473780, 21829508, 21910030, 21932420, 21966435, 21985784, 22026957, 22070922, 22270257, 22357840, 22392911, 22496919, 22553375, 22579930, 22586484, 22675430, 22696593, 22798500, 22851869, 22931052, 22982087, 23094721, 23136247, 23158210, 23165447, 23207797, 23251002, 23354733, 23475782, 23520486, 23549875, 23583404, 23604118, 23617638, 23633456, 23660947, 23671647, 23725225, 23728594, 23743569, 23785428, 23792451, 23824282, 23826249, 23930204, 23960014, 23990352, 23992303, 24062397, 24092809, 24231454, 24317328, 24352906, 24393708, 24398569, 24440701, 24440976, 24576621, 24581231, 24666267, 24861917, 24863535, 25023051, 25073438, 25100204, 25190725, 25356626, 25365190, 25367198, 25374184, 25389372, 25450577, 25501831, 25549537, 25571954, 25591826, 25639985, 25683705, 25686118, 25714871, 25742472, 25749388, 25815786, 25834816, 25835181, 25920435, 25994739, 26001389, 26018692, 26045788, 26216840, 26224641, 26224873, 26238857, 26272063, 26358176, 26404261, 26510091, 26647806, 26691448, 26712086, 26715098, 26718987, 26719016, 26722535, 26741506, 26747178, 26787540, 26847718, 26955235, 26991109, 27033063, 27146902, 27321283, 27325016, 27350731, 27391152, 27405731, 27436848, 27461218, 27469030, 27511117, 27573904, 27602501, 27626684, 27694004, 27737711, 27800646, 27889608, 27913571, 27941887, 28087713, 28107519, 28154202, 28184015, 28188750, 28199979, 28230287, 28247181, 28300833, 28315345, 28352192, 28418896, 28448072, 28513830, 28559972, 28562687, 28584719, 28618197, 28656212, 28708103, 28738539, 28746882, 28771224, 28822989, 28835319, 28884839, 28928860, 28939743, 29027537, 29050940, 29068474, 29118671, 29128266, 29222171, 29260353, 29277893, 29321086, 29339153, 29380640, 29402752, 29421609, 29422975, 29496520, 29496555, 29552187, 29636999, 29666061, 29666387, 29689497, 29705968, 29845289, 29901203, 29970122, 29970892, 29978469, 30001368, 30085422, 30129057, 30147336, 30243491, 30410397, 30468657, 30472186, 30481508, 30582752, 30623365, 30636581, 30639585, 30683840, 30691487, 30832706, 30905967, 30933440, 30985693, 31017126, 31018249, 31036754, 31043791, 31060539, 31164625, 31164794, 31215384, 31255173, 31298352, 31341365, 31357480, 31430901, 31448575, 31501538, 31506897, 31648230, 31664539, 31704733, 31719636, 31815051, 31830892, 31844152		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG	15930273, 15994075		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	15016963, 15254419, 15647370, 15930273, 18725974, 19223544, 19366826, 19903786, 20453058, 20619739, 22162582, 22162589, 22357840, 24559322, 25157968, 26619011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15254419, 16150444, 17990317, 18339877, 18516290, 18782444, 19237633, 19603024, 19789368, 19806185, 20098682, 20233444, 20652941, 21103049, 21216929, 21283802, 21425139, 21439039, 21473780, 21704278, 21712828, 21738740, 21829508, 22014273, 22026957, 22285706, 22357840, 22569004, 22586484, 22665543, 22675430, 22798500, 22807617, 22810696, 22828149, 22851869, 22911782, 22931052, 22936063, 23125007, 23165447, 23374602, 23548132, 23617638, 23660947, 23671647, 23728594, 23785428, 23992303, 24006859, 24092809, 24231454, 24339949, 24440976, 24500024, 24599305, 24737664, 24755613, 24930890, 24970817, 25250560, 25337237, 25367198, 25491172, 25501831, 25541970, 25549537, 25550888, 25617745, 25641861, 25714871, 25834816, 25835181, 25851630, 25886136, 25943333, 25994739, 26010451, 26019684, 26134512, 26184520, 26226847, 26375816, 26486455, 26517354, 26553611, 26691448, 26909603, 26915040, 26991109, 27033063, 27050078, 27074743, 27095166, 27146902, 27302833, 27384156, 27405731, 27461218, 27511117, 27602501, 27737711, 27863403, 27982025, 28068936, 28199979, 28222664, 28268248, 28424201, 28513830, 28551381, 28618197, 28746882, 28936923, 29027537, 29045518, 29138025, 29169325, 29180604, 29222441, 29434452, 29546405, 29556349, 29599344, 29666387, 29718453, 29914973, 29945573, 29970892, 30018674, 30085422, 30689692, 30840064, 30854932, 30963391, 30985693, 31036005, 31127692, 31255173, 31548566, 31704733, 31782259, 31802830, 31805970, 32000660, 32066410, 32166754, 32733937, 32810930, 33031197, 33066758, 33177794, 33237662, 33547199, 33714943, 33753628, 33836681, 34111531, 34377593, 34403504, 34433650, 34843402, 34851763, 35173208, 35176763, 35338148, 35435290, 35438321, 35459861, 35641204, 35668106, 35709138, 35718818, 35785488, 35978873, 36017985, 36202073, 36221415, 36295658, 36416825, 36520636, 36652260, 36661655, 36930789, 36963484, 37096801, 37176143, 37326340, 37370046, 37394872, 37621144, 37628868, 37737217, 37750623, 38185290, 39191495, 39220126, 39289671, 39333321, 39342926, 39350061, 39390564, 40082818, 40107157	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15950905, 18193083, 18516290, 19223544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	19731079, 25093594, 27302833, 28087713, 30550927		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	23760948	Associate	★☆☆☆☆ Found in Text Mining only
Complement Component 7 Deficiency	Complement component deficiency	Pubtator	32384877	Associate	★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	31036380		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	31290289	Associate	★☆☆☆☆ Found in Text Mining only
Congenital abnormality of vein	Venous malformation	BEFREE	26637981, 27030595, 29352118, 29786783, 30855339		★☆☆☆☆ Found in Text Mining only
Congenital abnormality of vein	Venous malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	28530660, 29976569		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	11358835, 12963965, 25322685, 29470683		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	18181165, 21051183, 21325635, 25826091, 26657242, 30008846, 30308494, 30316146, 31456644, 31638221		★☆☆☆☆ Found in Text Mining only
Congenital duplication of intestine	Congenital Duplication Of Intestine	CLINVAR_DG	31568861		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	31806860		★☆☆☆☆ Found in Text Mining only
Congenital hemihypertrophy	Congenital Hemihypertrophy	BEFREE	24782230, 25557259		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hemihypertrophy	Congenital Hemihypertrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hemihypertrophy	Congenital Hemihypertrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	37974153	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	26720608		★☆☆☆☆ Found in Text Mining only
Congenital Lipomatous Overgrowth Vascular Malformations and Epidermal Nevi	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Pubtator	22658544, 24782230, 25044986, 25557259, 25681199, 25915946, 27438212, 28502725, 29231959, 29549527, 30761771, 31490637, 34074347, 34112235, 34887309, 35146800, 37067587	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	GENOMICS_ENGLAND_DG	19011570, 22729224, 27030595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	BEFREE	22658544, 24665065, 27575310, 28502725, 28627003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	UNIPROT_DG	22658544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	ORPHANET_DG	22658544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital macrodactylia	Congenital macrodactylia	GENOMICS_ENGLAND_DG	19011570		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital macrodactylia	Congenital macrodactylia	BEFREE	23100325, 24374682, 26851524, 28654575, 28867506, 29661094, 31481664		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital macrodactylia	Congenital macrodactylia	UNIPROT_DG	23100325		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital macrodactylia	Congenital macrodactylia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital macrodactylia	Congenital macrodactylia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	14597618, 17404510, 17885560, 21631421, 21912691, 27729468, 28624424, 28904868, 29115471, 29209026, 29574918, 30567315, 30568254, 30864233, 30974752		★☆☆☆☆ Found in Text Mining only
Conjunctival hamartoma	Conjunctival hamartoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	31371346	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16707436, 17468516, 18587247, 19843858, 22950635, 23086777, 23219378, 23416459, 23797736, 23900601, 24107265, 24448243, 24767687, 25714556, 25757764, 25925728, 26537074, 26559013, 27387559, 27453294, 27844272, 27983909, 28049139, 28114284, 28350788, 29148041, 29180899, 29228703, 29667779, 29799306, 30046388, 30327302, 30349421, 30431104, 30465826, 30569446, 30607788, 30655739, 30723697, 30774762, 30964104, 30968158, 31040915, 31081053, 31173226, 31485634, 31522588, 31545453, 31743108		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19103156, 25787015, 29658565, 29689553, 30402501, 30906453, 31082728, 31090947, 31120192, 31341503, 31377586		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	19103156, 30906453, 31090947, 31341503		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	19103156, 30906453, 31090947, 31341503		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	CTD_human_DG	22729223		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	28969385		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	BEFREE	25367099		★☆☆☆☆ Found in Text Mining only
Cough	Cough	Pubtator	39465738	Inhibit	★☆☆☆☆ Found in Text Mining only
Cowden syndrome	Cowden Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COWDEN SYNDROME 5	Cowden Syndrome	GENOMICS_ENGLAND_DG	16288007		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COWDEN SYNDROME 5	Cowden Syndrome	UNIPROT_DG	23246288		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COWDEN SYNDROME 5	Cowden Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COWDEN SYNDROME 5	Cowden Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Craniodiaphyseal Dysplasia Autosomal Dominant	Craniodiaphyseal dysplasia	Pubtator	27955658	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	31363831		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23962154, 31358861		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
CTLA4 deficiency	CTLA4 Deficiency	BEFREE	26735698		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	16567976		★☆☆☆☆ 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
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	28794469, 28883468, 29246444		★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	30166343		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	22662110, 26718307, 26934912, 26972586, 27930985, 28320092, 28590075, 29168867, 29245931, 29323710, 29434702, 29532889, 29636866, 30160278, 30248539, 30261492, 30417459, 30451865, 30500068, 30542428, 30922122, 30938722, 31020644, 31162482, 31325727, 31460867, 31472145, 31497826, 31572500, 31652455, 31695756, 31711940, 31712854, 31777535, 31829201		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	26946964		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	22575597		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	28488208, 30178865		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27483380, 30063009, 30105773, 31353678, 31491407, 31618892, 31770536		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	30288224		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	16085391, 30737086		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	25119929, 27016421	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27631024, 30919936, 31290289	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	29446767, 31831213		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15127203, 21861804, 23747931, 23827786, 23880101, 24157451, 28477532, 28584284, 28654509, 28842968, 29526571, 29540859, 29724723, 29953446, 30106118, 30210687, 30515357, 30959144, 31250153		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15127203, 21478266, 21861804, 23747931, 23827786, 23880101, 24157451, 24306208, 26648531, 28477532, 28584284, 28654509, 28842968, 29042442, 29486734, 29526571, 29540859, 29634420, 29724723, 29953446, 30106118, 30210687, 30237226, 30515357, 30959144, 31250153, 31317389, 31336140, 31539141		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	27207584, 27791035, 28081180, 28915718, 30387830, 30651870, 30973884, 31663655		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10768097, 11246893, 15127203, 15653324, 20107106, 23272147, 26063468, 26175178, 27506476, 28045971, 28134520, 28142314, 28225806, 28477532, 28573460, 28922161, 29435181, 29552086, 29669306, 29990865, 30041644, 30050458, 30175975, 30250521, 30263000, 30421394, 30684218, 30773997, 30805369, 30824102, 31108940, 31179340, 31275108, 31332162, 31363081, 31493479, 31609623, 31849586		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	28487469, 31131539		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	22056625, 25754093, 26849944, 27029904, 27965087, 29201232, 30128961, 30263007, 30361091, 30896854, 30899370, 31668144, 31799676		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30835506, 31593688, 31702490, 31702491, 31759996		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	36484399, 38194422	Associate	★☆☆☆☆ Found in Text Mining only
Diaphragmatic Eventration	Diaphragmatic Eventration	CLINVAR_DG	31568861		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diarrhea	Diarrhea	Pubtator	35138919	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	18762555, 30365150, 31289610		★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	28189993, 29760046		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	15331441, 18382359, 19223503, 20443680, 21173233, 22609116, 23200668, 23636313, 23764004, 24418330, 24938766, 25215588, 25909227, 26460954, 26549638, 26961147, 27348272, 27980108, 28073005, 28202458, 28461758, 28639315, 28750570, 28756223, 29137222, 29246942, 29572378, 29617050, 30134175, 30322870, 30801854, 30820547, 30881494, 31471373, 31775867, 31831562		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	CTD_human_DG	21173233		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	19818761, 19861897		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	17202311, 19861897, 19898424, 22705004, 23319441, 23352210, 26085527, 27108388, 30652258		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	LHGDN	18183466		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	31729162	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	28115173		★☆☆☆☆ Found in Text Mining only
Dysembryoplastic neuroepithelial tumor	Dysembryoplastic Neuroepithelial Tumor	BEFREE	28131206, 31617914		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysgerminoma	Dysgerminoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	31290289		★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	23157623		★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	30184529		★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	21266528, 21478295, 23674493, 23702729, 24746199, 25701704		★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	BEFREE	24311633		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	24793135, 25002625, 27562493		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Emphysema	Emphysema	Pubtator	30532529	Associate	★☆☆☆☆ Found in Text Mining only
Enchondroma	Enchondroma	BEFREE	28410203		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	34097174, 35121623, 36518248	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11309338, 15067356, 16273242, 16322209, 16525671, 16567092, 16681770, 16949921, 17427168, 17471559, 17924977, 18084252, 18180098, 18221484, 18829572, 19234438, 19261849, 19839777, 19853286, 19917135, 20062086, 20173732, 20664599, 21093899, 21266528, 21478295, 21531001, 21687953, 21984976, 22075757, 22146979, 22209294, 22301702, 22383975, 22586352, 22662154, 22911820, 23028188, 23219661, 23235274, 23300780, 23319822, 23538402, 23674493, 23702729, 23760948, 23949151, 24262879, 24366110, 24561032, 24651628, 24811063, 24995579, 25078343, 25081752, 25141911, 25588929, 25624430, 25698082, 25701704, 25862896, 26045339, 26193427, 26333383, 26485755, 27259051, 27302833, 27388585, 27420608, 27613818, 27672108, 27798902, 27910071, 28002804, 28119489, 28184015, 28202507, 28476021, 28860563, 28864978, 28886696, 28945226, 29081412, 29182407, 29206892, 29426295, 29854314, 30104481, 30298385, 30319275, 30338797, 30402135, 30544563, 30569174, 30574817, 30779215, 30853360, 31176047, 31233196, 31472672, 31486482, 31527078, 31545414, 31588998, 31714586, 31752654		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	21531001		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	24186142, 32187665	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	16681770, 17924977, 18084252, 18221484, 19234438, 20173732, 20218740, 20398348, 20681032, 21093899, 21266528, 21478295, 22146979, 22271473, 22383975, 22653804, 22923510, 23013731, 23300780, 23674493, 23760948, 23949151, 25078343, 25588929, 27302833, 28002804, 28485815, 30289582, 30442683, 30569174, 31472672, 31714586, 31880826, 32376737, 32473611, 32652986, 33622519, 34831139, 35128859, 37730563, 38536067, 39296440, 39776897	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	16949921, 17062663, 17924977, 18084252		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	22146979	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	BEFREE	24573554		★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	BEFREE	26276776		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	16210010, 19932734, 21735444, 21898874, 22157930, 24154570, 24557434, 25692284, 26276776, 26832958, 26899323, 28544021, 28856757, 29762822, 30542723, 31144476, 31219551, 31273584, 31461309, 31637941		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	25692284, 30428062, 32473611	Associate	★☆☆☆☆ Found in Text Mining only
Enlarged polycystic ovaries	Enlarged polycystic ovaries	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	24077346		★☆☆☆☆ Found in Text Mining only
Epidermal Nevus	Epidermal nevus	Pubtator	25928347, 28434888, 37452404	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsies Partial	Partial epilepsy	Pubtator	23066039	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26345935, 26633882, 29399113, 29858824, 29901097, 30542433, 30684126, 30922159, 31563029, 31654704		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34102393, 35355055	Associate	★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	31786159		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	27056978, 28968539, 29615724, 31625572		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	17875760, 18794094, 19151754, 19638206, 20661217, 23680521, 23708104, 24237932, 24718516, 25370471, 25405658, 28002999, 28350104, 28770968, 29286125, 29996940, 30697076, 30880072, 30909184, 30941821, 31173282, 31234823, 31371979, 31629932		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epithelial tumor of ovary	Epithelial Tumor Of Ovary	CGI_DG			★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	11959846, 27117832, 30670492		★☆☆☆☆ Found in Text Mining only
Erdheim-Chester Disease	Erdheim-Chester Disease	BEFREE	25150293, 25377560		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	29174980		★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Esophageal achalasia	Pubtator	20163722	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	16380997, 17638919, 18262558, 19164214, 25106743, 25435423, 25912437, 27239113, 28109079, 28384037, 28867195, 29207170, 29285246, 29456742, 29604392, 30115035, 30368517, 30636576, 30942438, 31091245		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	16380997, 17638919, 18262558, 19164214, 25106743, 25435423, 27239113, 28109079, 28384037, 28867195, 29285246, 29456742, 29604392, 30115035, 30368517, 30636576, 30942438, 31091245		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	16380997, 18262558		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	24241346, 25106743, 27107065, 29127303, 30115035, 33655918, 34663841, 39560927	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	15761962, 22870241, 24945674, 25054828, 25337715, 25839328, 26528858, 26823766, 27095573, 27749841, 28068934, 28465643, 28731047, 31754291, 33054840, 34663841, 35604910, 36119057	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	22870241	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	36183486	Associate	★☆☆☆☆ Found in Text Mining only
ESTROGEN RESISTANCE	Estrogen Resistance	BEFREE	22114931		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	11803474, 19205734, 23681745, 25119929, 26336820, 26969300, 29541208, 30926641		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	31261148		★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	21283802, 30543347	Associate	★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	BEFREE	29851132		★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	18181165		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	15192701, 18184791		★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	26336083	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	23525077, 26317790, 27471841, 28867195		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28357399, 28905319, 29724723, 30819264, 31790897		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29724723, 30248539, 31702809		★☆☆☆☆ Found in Text Mining only
Fibroadenoma of breast	Fibroadenoma Of Breast	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrocystic Breast Disease	Breast fibrocystic disease	Pubtator	17669465, 26806567, 31605313, 33382535	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	27748285		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	12169689, 31173185		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	24326778, 28095306, 28104102, 28371611, 28830755, 28839277, 29749545, 29881350, 31213776, 31378124, 31494146, 31505837, 31632567, 31835352		★☆☆☆☆ Found in Text Mining only
Fibrous skin tumor of tuberous sclerosis	Adenoma sebaceum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	30687088		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia	Focal cortical dysplasia	BEFREE	28457820, 30687088		★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	35355055	Associate	★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	25722288	Associate	★☆☆☆☆ Found in Text Mining only
FOCAL CORTICAL DYSPLASIA OF TAYLOR	Focal cortical dysplasia	BEFREE	26345935, 31337748		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	17317825, 17426084, 18055323, 18480379, 18492751, 20001715, 20578891, 22280229, 23185308, 24908061, 26820593, 28551845		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	20702695, 22207187, 30061744		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	29787599		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	21303542, 25623055, 26947513, 27317099, 28656003, 28693246, 28766687, 29413947, 29416013, 29954840, 30276551, 31411121		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	21303542, 24739824	Associate	★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	29963264		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	15784156, 22723903, 26968576, 30837539, 31705880		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	27323780		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	21212151	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	21212151		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	32352244	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	16220453		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	BEFREE	28777148, 31553483		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	16461335, 19860642, 21906875, 22489693, 23231951, 24706111, 25316817, 25757539, 26587973, 26796526, 28777148, 29277888, 29545835, 29902839, 30405821, 30537795, 30551450, 30714229, 31308757, 31553483		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	23470635, 26796526, 31553483, 31570771, 32236636	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	16188233		★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	21325635		★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Neoplasms	Gestational Trophoblastic Neoplasms	BEFREE	21325635		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	29122897		★☆☆☆☆ Found in Text Mining only
Gingival Diseases	Gingival diseases	Pubtator	31743516	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	29065394, 30183321, 31680442		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10958682, 12545160, 14655756, 15289301, 15605984, 15924253, 16007122, 16150119, 16849522, 17050665, 17210246, 17235514, 17616812, 18215105, 18328427, 18413797, 18566746, 19076776, 19549905, 19633683, 20068170, 20392929, 20473884, 20569675, 20857497, 20861085, 20888802, 21040711, 21063898, 21276823, 21538561, 21613208, 21908773, 22015553, 22026810, 22059152, 22065080, 22085529, 22125077, 22876838, 23000516, 23166678, 23190603, 23409016, 23448150, 23459592, 23536279, 23555046, 23708697, 23814263, 24048798, 24076665, 24243798, 24366691, 24423920, 24469053, 24658109, 24691646, 24792437, 24867100, 25048528, 25213694, 25256166, 25316808, 25501279, 25823028, 25943352, 26339347, 26948367, 27176780, 27196759, 27448972, 27533080, 27553832, 28147244, 28332226, 28379424, 28423515, 28471660, 28576488, 28592260, 28663030, 28696243, 28704425, 28834297, 28838997, 28958992, 29016844, 29016926, 29151909, 29184057, 29326882, 29328863, 29336479, 29434887, 29621542, 29729901, 29755294, 29768063, 29852183, 29975751, 29977365, 30251117, 30281640, 30312846, 30333046, 30360807, 30371540, 30466783, 30506943, 30530503, 30535594, 30552990, 30662577, 30669284, 30669546, 30669581, 30715997, 30731398, 30796030, 30816477, 30877099, 30896873, 30898893, 30943748, 30943918, 31036078, 31081099, 31151189, 31243804, 31247000, 31360067, 31360068, 31376551, 31416846, 31503386, 31541850, 31575848, 31618458, 31680298, 31698752, 31841506		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	11351043, 14655756, 15605984, 17050665, 22064833, 25256166, 25943352, 26191234, 27426982, 29454261, 29975751, 31036078, 33237934	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	16150119, 17050665, 17235514		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10958682, 12545160, 15605984, 15924253, 16007122, 16849522, 17002787, 17050665, 17210246, 17235514, 17616812, 18215105, 18260157, 18328427, 18566746, 19076776, 19461960, 19549905, 19633683, 20068170, 20169195, 20392929, 20473884, 20736378, 20857497, 20861085, 20888802, 21040711, 21063898, 21276823, 21430111, 21613208, 21798846, 21827416, 21908773, 22015553, 22059152, 22064833, 22065080, 22085529, 22125077, 22876838, 23000516, 23166678, 23190603, 23409016, 23448150, 23459592, 23536279, 23555046, 23708697, 23814263, 24048798, 24243798, 24366691, 24469053, 24658109, 24691646, 24792437, 24867100, 25048528, 25213694, 25256166, 25316808, 25431263, 25501279, 25501707, 25823028, 25943352, 26339347, 26481529, 26948367, 27176780, 27196759, 27448972, 27498786, 27533080, 27553832, 27815359, 28147244, 28320338, 28332226, 28379424, 28423515, 28424411, 28471660, 28576488, 28592260, 28696243, 28704425, 28834297, 28838997, 28958992, 29016844, 29016926, 29151909, 29184057, 29326882, 29336479, 29434887, 29457830, 29729901, 29755294, 29768063, 29852183, 29975751, 29977365, 30116397, 30251117, 30281640, 30312846, 30360807, 30371540, 30466783, 30506943, 30530503, 30535594, 30552990, 30662577, 30669284, 30669546, 30669581, 30700763, 30715997, 30731398, 30796030, 30816477, 30877099, 30896873, 30898893, 30943748, 30943918, 31036078, 31081099, 31151189, 31214505, 31243804, 31247000, 31360067, 31360068, 31376551, 31416846, 31485609, 31503386, 31520357, 31541850, 31575848, 31618458, 31680298, 31698752, 31707687, 31841506		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16170333, 17159987, 17804702, 18260157, 19214224, 19265662, 19549905, 19705067, 20116920, 20888802, 21057530, 21062993, 21480393, 21827416, 21996738, 22065080, 22079609, 22249269, 23459592, 23569237, 23690991, 24162827, 24741074, 24771584, 25351348, 25823655, 26034878, 26248734, 26342429, 27686608, 28212543, 28292440, 28332226, 28401302, 28410212, 28423515, 28608562, 28696243, 28881745, 28959975, 29207186, 29228741, 29324313, 29520611, 29535541, 29552118, 29572052, 29621055, 29718345, 29774498, 30296359, 30338804, 30372896, 30455394, 30542720, 30715630, 30784920, 31002138, 31111534, 31173355, 31190861, 31240814, 31305291, 31324855, 31416846, 31680298, 31758290, 31776938, 31787462, 9446703		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma	Glioma	Pubtator	19671762, 25934342, 29272522, 29454261, 30403311, 30542720, 30950448, 33318517, 34102393, 37524847, 37713468	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma	Glioma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
gliosarcoma	Gliosarcoma	BEFREE	30818875		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29296277, 31290289		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glomerulonephritis, Membranoproliferative	Glomerulonephritis	BEFREE	28925480		★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	25869207, 26080839, 27579615		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	24840811		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	35272946	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	24697238		★☆☆☆☆ Found in Text Mining only
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	BEFREE	24641191		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	18774199, 19177005, 31752127		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	CLINVAR_DG	15930273, 17376864, 18829572, 22120714, 22729224, 27631024		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	17405772, 21361912, 23246288		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	ORPHANET_DG	23246288		★☆☆☆☆ Found in Text Mining only
Hamartomatous polyposis	Hamartomatous polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	28434922, 31297647		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	17990317, 23619167, 23640975, 23847349, 24219320, 24599934, 25995437, 26832731, 26895469, 28197389, 28693263, 29284199, 29312563, 29440171, 29496059, 30501041, 31597661, 31785230		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	11959846, 16533766, 17990317, 24599934, 25589618, 25855885, 27091409, 34247193, 36066547, 39684472	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	CLINVAR_DG	23408298, 25157968		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	17202264, 29098623, 30568254		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	14597618, 17404510, 17885560, 21631421, 21912691, 27729468, 28624424, 28904868, 29209026, 29574918, 30567315, 30568254, 30864233, 30974752		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	30584986		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	22648906, 23599148		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	22648906, 23599148, 31305404, 32123305, 34397726	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	16645590, 19962457, 23380710, 23403624, 28112970, 28350342, 28592260, 28779993, 28802037, 30120858, 31032347, 31490009, 31601188, 31668943, 31741715		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	18317450, 30353642, 31698306		★☆☆☆☆ Found in Text Mining only
Hemihyperplasia Isolated	Hemihyperplasia	Pubtator	24782230, 25557259, 25915946, 29549527, 37452404	Associate	★☆☆☆☆ Found in Text Mining only
HEMIHYPERPLASIA, ISOLATED	Hemihyperplasia	BEFREE	24782230, 25557259		★☆☆☆☆ Found in Text Mining only
Hemihyperplasia-multiple lipomatosis syndrome	Hemihyperplasia-Multiple Lipomatosis Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemimegalencephaly	Hemimegalencephaly	BEFREE	22729223, 23449172, 24853778, 28969385, 30687088		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hemimegalencephaly	Hemimegalencephaly	ORPHANET_DG	22729223		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hemimegalencephaly	Hemimegalencephaly	Pubtator	22729223, 25722288, 31444548, 34170046, 35355055, 35483878, 37452404	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hemimegalencephaly	Hemimegalencephaly	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hemimegalencephaly	Hemimegalencephaly	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	21667306, 38117494	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	19584164, 30809316, 31541079		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	20177704, 20398348, 21209903, 21216929, 22271473, 22460814, 24186142, 24782652, 25688711, 27108388, 27581127, 29454754, 29537649, 30394935, 32088208, 35273332, 39336800, 40437613	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	23537747		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	24913494, 25742482, 29107429, 30744607		★☆☆☆☆ Found in Text Mining only
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	BEFREE	29449337		★☆☆☆☆ Found in Text Mining only
hereditary neuroblastoma	Neuroblastoma	BEFREE	28455243		★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	ORPHANET_DG	19731079		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	17546593, 19731079		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	ORPHANET_DG	19731079		★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	30344716, 30796154		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	25377560, 29107666		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	15289331, 17375124, 26549638, 27767172, 29615799, 30352904		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	19745829, 27466197, 31728850		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	31094678		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 1	Hyper-IgM Immunodeficiency Syndrome	BEFREE	30319630		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	29719598		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	17852837		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	23316693, 27199286, 28194032, 28391584, 28557977, 28666105, 29069833, 29108713, 29724723, 30051890, 30140011, 30362612, 30365051, 30584024, 30684218, 30945455, 31323977, 31583710, 31609623, 31612150		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	30543347, 35138919	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycinemia Nonketotic	Hyperglycemia	Pubtator	28566443	Associate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	29660344		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	14733908, 23316693, 28298335, 28557977, 28852804, 30708040, 30718284, 30770752, 31345231, 31467576		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	22726224		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	29172017		★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	27550858		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	28843775		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	22729222, 25557259, 30591517, 34606700	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	19299143, 28191736, 30584024, 30668312, 30686655, 30767203, 30934575		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	17404510		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	17404510		★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	14981096, 19700418, 30200817		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	28941273, 29883676, 30920609		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	27885243		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotension	Hypotension	Pubtator	22949056	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	30542605, 31069661, 31495205		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27771839	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	29138115, 31082354		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	26909593		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27087006, 27297622, 27667582, 28212825, 29956736, 30387816, 30753867, 31841211		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23439433, 23580232, 24276150, 28860768, 29563341, 30171960, 30602778, 30765508, 31335136		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	32426915	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	20485333, 27730700		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	15995708, 25573003, 26735698, 30813656, 31110302		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19330021, 23251519, 29867948, 30474474, 31112530		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22771711, 28342896, 28386360, 28584284, 28599877, 28656275, 28782464, 28859574, 29248560, 29290948, 29312496, 29516284, 29723552, 29916537, 29981363, 30086265, 30175975, 30787593, 30851305, 31004737, 31119777, 31254519, 31281447		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	30690033		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	28617917	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30385297		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	24233241, 24634376, 28243898, 30086764, 30844755, 31357602, 31420779		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	30288224		★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	25120743		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	17986714	Inhibit	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	23826284	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28859574, 30061744		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31290289	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	29240250		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	28087442, 28915718, 31746390		★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	27207584, 28915718, 30387830, 31663655		★☆☆☆☆ Found in Text Mining only
Intervertebral Disk Displacement	Intervertebral Disk Displacement	BEFREE	21590431		★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	23708654		★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	23935891		★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	30101479		★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	28236118		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	26014518, 26717940, 27655691, 28694672, 28902342, 29279289		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	8732665		★☆☆☆☆ Found in Text Mining only
Irido-corneal dysgenesis	Anterior segment dysgenesis	BEFREE	28632845		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	30693516, 30873034		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	31272268		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	26175178, 28395173, 28436420, 28587406, 28684048, 28978811, 29311781, 30362547, 30797642, 30911000, 31132356		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	31729162		★☆☆☆☆ Found in Text Mining only
Isovaleryl-CoA dehydrogenase deficiency	Isovaleryl-CoA dehydrogenase deficiency	BEFREE	23266353		★☆☆☆☆ Found in Text Mining only
Jaundice, Obstructive	Jaundice	BEFREE	31589938, 31772637		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	24469048, 24569456, 26457648, 27840422		★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	28434922		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	19864499, 23708663, 30170375		★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	25433273, 28033256, 30153510		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	29860458		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	BEFREE	18503601, 22726224, 26319365		★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	Pubtator	26319365	Associate	★☆☆☆☆ Found in Text Mining only
Keratosis Seborrheic	Seborrheic keratosis	Pubtator	17673550, 21078999, 28410231	Associate	★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	30819264		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	25961698, 25987255		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	30144073		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28685413, 29049990, 30178867, 30387162, 30991714		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28765904, 29679000		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	19843858, 19850877, 27191687, 28938574		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	35778737, 38002360	Associate	★☆☆☆☆ Found in Text Mining only
Klippel-Trenaunay-Weber Syndrome	Klippel-Trenaunay-Weber Syndrome	BEFREE	25681199, 26268729, 27191687, 27522498, 29231959, 29352118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kosaki overgrowth syndrome	Kosaki Overgrowth Syndrome	BEFREE	30941910		★☆☆☆☆ Found in Text Mining only
Laryngeal cleft	Laryngeal cleft	BEFREE	29042286, 29336505		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	26656176, 26883008, 27373675, 29135113, 29700339, 31545285		★☆☆☆☆ Found in Text Mining only
Laryngitis	Laryngitis	Pubtator	29700339	Associate	★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	28002802, 30683135		★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	17496901, 22648906, 28002802, 30683135, 31753040		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	HPO_DG			★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	BEFREE	20308328		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16305491, 18684865, 19461960, 21436840, 21494257, 21789382, 22094587, 22477202, 23145067, 23180012, 23334668, 23832765, 24100660, 24244612, 24349524, 24484591, 24569456, 25299784, 26013878, 26194899, 26611474, 26974155, 27018341, 27673440, 27756877, 28834761, 29179029, 29401696, 29844397, 29851132, 29927999, 30457982, 30649751, 30841886, 30972780, 31255635, 31412710		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	30666840	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22828407, 23526884	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	7691885		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16585200, 16764926, 17215852, 17426258, 17928881, 18053070, 18184863, 18317450, 18548093, 18697750, 19148132, 20007139, 20193963, 20671809, 20884625, 21077741, 22613795, 22820502, 23263202, 23526884, 23535559, 23775716, 23919981, 23955073, 24383842, 24569456, 25322685, 25426669, 25598437, 25823922, 25826077, 26044548, 26319392, 26465810, 26934650, 26999641, 27071307, 27174919, 28042875, 28350342, 28388564, 28418873, 28537457, 29143813, 29208365, 29276026, 29343273, 29442453, 29559471, 29889583, 30367526, 30472492, 30536332, 30710358, 30819918, 31053167, 31147526, 31240133		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	18830414, 29077243, 29688264		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	26023239, 30541897		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	29108713, 29615799		★☆☆☆☆ Found in Text Mining only
Lhermitte-Duclos disease	Lhermitte-Duclos disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	28002802, 30683135		★☆☆☆☆ Found in Text Mining only
Linear Verrucous Epidermal Nevus	Linear Verrucous Epidermal Nevus	BEFREE	24346875		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	19628422, 21310649, 22240207, 23228846, 23597702, 23806066, 29037125, 29432993, 30352996, 30409306, 30519710, 31755615, 31831300		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	23810379		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipomatosis	Lipomatosis	BEFREE	24374682, 24903541, 28665924		★☆☆☆☆ Found in Text Mining only
Lipomatosis	Lipomatosis	Pubtator	31481664, 37452404	Associate	★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple Symmetrical	Lipomatosis	BEFREE	24374682, 24903541, 28665924		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	24695632, 27016421		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	24695632, 27016421	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	20601955, 22020193	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	28903316		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Myxoid	liposarcoma	BEFREE	20601955, 22020193, 28637688		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Pleomorphic	liposarcoma	BEFREE	20601955		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11960367, 15608678, 15795286, 16184552, 16331247, 17145871, 17187432, 17546603, 17557191, 18181165, 18722373, 19591801, 20108172, 20430845, 20460918, 20473866, 20506537, 20860815, 21040406, 21102517, 21667306, 21725613, 22155250, 22190283, 22234835, 22258409, 22360859, 22428038, 22552445, 22618716, 22957763, 23167739, 23474367, 23537747, 23583669, 23588698, 23709421, 23836295, 23910058, 23990456, 24048756, 24055031, 24223153, 24232099, 24347489, 24379610, 24425104, 24556693, 24673525, 24797434, 25060910, 25070581, 25091573, 25120782, 25280563, 25572981, 25633810, 25701229, 25778319, 25826091, 26021873, 26044564, 26045065, 26055238, 26104578, 26160280, 26160430, 26249360, 26311153, 26823876, 26884855, 26916922, 26992218, 27279530, 27602769, 27611696, 27628214, 27863926, 27918554, 27919945, 27955658, 28018099, 28256185, 28302680, 28442344, 28456666, 28464252, 28498423, 28586051, 28600143, 28680363, 28867187, 28901322, 28928809, 28968944, 28974422, 28977851, 28983625, 29213215, 29299170, 29312508, 29321577, 29337428, 29360358, 29449645, 29520149, 29530052, 29636997, 29680738, 29707960, 29721050, 29734164, 29737948, 29803224, 29864897, 29928334, 29940988, 29972254, 29992971, 30021391, 30025407, 30026540, 30026832, 30067868, 30089483, 30231922, 30235011, 30312171, 30355923, 30418964, 30468465, 30473218, 30561038, 30582951, 30584322, 30588033, 30678274, 30696802, 30779474, 30796964, 30805927, 30971294, 30975125, 31033054, 31105864, 31126975, 31148183, 31151404, 31208444, 31281549, 31286509, 31293639, 31313392, 31335281, 31377314, 31406464, 31410213, 31423276, 31439713, 31443247, 31481232, 31497229, 31499123, 31541003, 31541884, 31663122, 31668943, 31684995, 31694662, 31698037, 31698701, 31801250, 31802891, 31830378		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	UNIPROT_DG	15608678		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	23894275, 24425104, 31060904		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	25080058		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	28577493		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11960367, 15107404, 17557191, 23537747, 24048756, 24556693, 24599305, 25826091, 27919945, 28692045, 28974422, 30975125		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	27090685	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	23248156, 25491172, 26708016, 34409758	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	27582428		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	12907143, 14695323, 20578176, 22684718, 24229709, 24374738, 24569456, 26163898, 26567140, 27080983, 28693139, 30268473, 31100334		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	17409929, 18757405, 22363436, 22430133, 22696596, 24533074, 24743704, 25473901, 25477232, 25745045, 26163898, 26176612, 26334752, 26486080, 26645682, 28285689, 28475299, 28584208, 28634123, 28662101, 29106415, 32441866, 32756609, 33219256, 33602172, 34217313, 35709927, 36499051, 37009714, 38245692	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	17681398, 18757405, 19029981		★★☆☆☆ 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
Lupus Erythematosus	Lupus Erythematosus	BEFREE	30348950		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	14695357, 27665947, 29186690, 29501569		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	28849060		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	36335193	Associate	★☆☆☆☆ Found in Text Mining only
Lymphangioma	Lymphangioma	BEFREE	26191320		★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	BEFREE	26191320		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	20954287	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	21904903		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22033276, 25550888, 28453696, 29704890, 29901149, 31638213, 33127935, 34454403, 37628868	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	25424831, 25681199, 26637981, 30947262, 33964933, 34112235, 34170046, 34887309, 35094709, 35787784, 37705207	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11908870, 18765521, 21502955, 22955914, 23300274, 23603894, 23721513, 23840064, 23921550, 25082755, 26350103, 26490423, 26503641, 28112970, 28147336, 28211162, 28945111, 29066507, 29765528, 29846633, 30134175, 30333121, 30649751, 31110302, 31167506, 31250153, 31601188, 31619463		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	25096023, 34325497	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	30569174	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	24799524, 25096023, 28008149, 29179250, 30584024, 30813760, 30928169, 31200358		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	23603894, 26823817, 27701018, 30096626		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	20133897, 31682844		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	11986952, 17654494		★☆☆☆☆ Found in Text Mining only
Lynch syndrome	Lynch Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Macrocephaly	BEFREE	22729224, 24705253, 24782230, 24888723, 24939587, 25557259, 25722288, 26593112, 26633882, 28086757, 28969385, 29883676, 30687088, 31056854, 31290289, 31568861, 31639285		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly	Macrocephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrodactylia of fingers	Macrodactyly	CLINVAR_DG	26851524		★☆☆☆☆ Found in Text Mining only
Macrodactyly of fingers, unilateral	Macrodactyly	Orphanet			★☆☆☆☆ Found in Text Mining only
Macrodactyly of toe	Macrodactyly Of Toe	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrodactyly of toes, unilateral	Macrodactyly	Orphanet			★☆☆☆☆ Found in Text Mining only
MACRODACTYLY, SOMATIC	MACRODACTYLY, SOMATIC	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	CTD_human_DG	22729223		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Malformation of cortical development	BEFREE	26523971, 30687088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	30717619, 30914203		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	23232578, 29487419		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	22648906, 26479291		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	12084351, 16700623, 27553832, 28401302, 29069732, 31219215		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	17990317, 23619167, 23640975, 23847349, 24219320, 24599934, 25995437, 26832731, 26895469, 28197389, 28693263, 29284199, 29312563, 29440171, 29496059, 30501041, 31597661, 31785230		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	22116552, 23580240, 25082755, 26961147, 29961897, 30558987		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of choroid	Choroidal melanoma	BEFREE	31380420		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	24491449		★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	25588929		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	15837735, 24162827, 28556811, 29326882, 29718345, 31581005		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11507039, 11597319, 11706404, 12670921, 12866037, 12970748, 15001399, 15254419, 15367412, 15472226, 15520168, 15580312, 15805248, 15837735, 16168105, 16168140, 16317585, 16322248, 16424042, 16582596, 16755107, 16951146, 17202311, 17314276, 17452630, 17575221, 17936563, 17947469, 17990317, 18022911, 18074223, 18183466, 18371219, 18495658, 18498248, 18518979, 18652687, 18676830, 18725974, 18798071, 18951408, 19027487, 19148520, 19238537, 19276248, 19366795, 19395875, 19567590, 19584146, 19633047, 19661335, 19671852, 19685490, 19701705, 19706770, 19751211, 19818761, 19844788, 19881546, 19882362, 19946332, 20007781, 20107891, 20112503, 20130907, 20372866, 20424113, 20453058, 20471474, 20479250, 20480226, 20530877, 20538763, 20551053, 20569503, 20664923, 20803067, 20940279, 21076301, 21127264, 21209903, 21216892, 21278436, 21345071, 21358673, 21362200, 21406469, 21420991, 21482677, 21558396, 21617917, 21676217, 21775521, 21822287, 21904903, 21932171, 21946274, 22033276, 22049316, 22094188, 22114931, 22262199, 22266096, 22302350, 22315990, 22329846, 22330809, 22370636, 22414288, 22421194, 22488590, 22534171, 22640628, 22710837, 22744290, 22841774, 22915751, 22922893, 22938585, 22952425, 22960556, 23000897, 23063927, 23065768, 23085752, 23089982, 23092874, 23184205, 23222510, 23301057, 23314198, 23319441, 23343422, 23384338, 23389849, 23420345, 23448424, 23532889, 23592373, 23612454, 23633485, 23635776, 23643661, 23663564, 23665199, 23792451, 23814023, 23884447, 23888070, 23903756, 23982433, 24001613, 24011769, 24121471, 24170767, 24175777, 24193002, 24229379, 24269953, 24277465, 24356815, 24362250, 24403602, 24444464, 24467828, 24470511, 24471188, 24477928, 24493024, 24501315, 24590635, 24601221, 24706460, 24722917, 24739482, 24782652, 24836190, 24879796, 24908061, 24918944, 24920352, 24924774, 24947048, 24981670, 24991009, 25002028, 25027743, 25036402, 25051360, 25056500, 25071141, 25104442, 25127034, 25155268, 25176561, 25192370, 25199759, 25201346, 25355053, 25379017, 25398847, 25401474, 25422220, 25458846, 25490678, 25491778, 25542038, 25542856, 25544637, 25559818, 25566992, 25586125, 25591616, 25692408, 25702787, 25736040, 25801958, 25816324, 25877889, 25961924, 25965974, 25979232, 25979484, 26001593, 26067136, 26095475, 26105797, 26116361, 26134759, 26148232, 26191181, 26194618, 26208487, 26215189, 26239613, 26245675, 26260992, 26266975, 26266985, 26267533, 26289070, 26316702, 26353837, 26452060, 26500061, 26515594, 26540293, 26595803, 26612860, 26640141, 26643256, 26676464, 26681740, 26733612, 26743283, 26758558, 26771497, 26810975, 26813108, 26827608, 26839307, 26840401, 26895380, 26907767, 26915040, 26921096, 26939876, 26945854, 26968397, 26995633, 27004402, 27015560, 27017286, 27048245, 27059323, 27088857, 27108388, 27171498, 27197157, 27211281, 27221510, 27265061, 27282497, 27283966, 27336598, 27369359, 27374081, 27384237, 27402769, 27426307, 27491861, 27512948, 27553366, 27563827, 27573562, 27581627, 27582428, 27600857, 27604488, 27626181, 27639383, 27771839, 27803006, 27811364, 27835884, 27848885, 27864123, 27901576, 27903677, 27928955, 27940576, 27941987, 27974663, 28029147, 28060760, 28123607, 28160548, 28165066, 28176176, 28196852, 28216025, 28228253, 28231748, 28269754, 28276317, 28296140, 28296189, 28336670, 28381172, 28382169, 28383549, 28392480, 28393905, 28396358, 28407679, 28418910, 28423632, 28427202, 28446508, 28454214, 28459209, 28486103, 28495456, 28498520, 28513879, 28518139, 28533273, 28539475, 28576675, 28599470, 28600142, 28750640, 28756150, 28779263, 28783168, 28791358, 28791363, 28810530, 28843257, 28854595, 28856747, 28861172, 28881779, 28886403, 28902361, 28910567, 28915591, 28923573, 28929029, 28945826, 28969041, 28991258, 29086897, 29097657, 29100327, 29103666, 29107429, 29110152, 29127189, 29128895, 29130495, 29169282, 29170395, 29242214, 29252036, 29259101, 29262587, 29284706, 29310608, 29316252, 29345357, 29355544, 29399197, 29401002, 29430197, 29454754, 29470143, 29476223, 29482551, 29504069, 29523855, 29524295, 29540052, 29545474, 29550144, 29550515, 29568883, 29574068, 29575819, 29599830, 29636477, 29689598, 29700210, 29708279, 29715106, 29721370, 29725474, 29736694, 29737572, 29774109, 29791862, 29792310, 29808803, 29844859, 29851245, 29863252, 29868122, 29902286, 29906308, 29925528, 29928143, 29942081, 29942710, 29951132, 30003928, 30038508, 30038517, 30038706, 30076411, 30078647, 30103105, 30109561, 30126855, 30148117, 30207362, 30212931, 30220978, 30266800, 30272349, 30287915, 30315845, 30318472, 30357946, 30368861, 30426328, 30443844, 30454896, 30483746, 30515357, 30515835, 30518672, 30540926, 30542378, 30543347, 30578411, 30628639, 30652258, 30652303, 30662797, 30671946, 30678711, 30737233, 30767161, 30776175, 30777364, 30796030, 30805870, 30806788, 30820547, 30873673, 30880072, 30888406, 30898150, 30903140, 30930461, 30943409, 30991934, 31005809, 31006103, 31018950, 31104012, 31124219, 31142739, 31159599, 31173106, 31174159, 31195751, 31235687, 31254443, 31256368, 31257479, 31262687, 31270600, 31277699, 31313132, 31317673, 31320990, 31322299, 31359335, 31391067, 31408722, 31417306, 31417861, 31425802, 31448883, 31464004, 31534012, 31539632, 31552922, 31594766, 31636652, 31660072, 31660083, 31683659, 31688991, 31696760, 31699932, 31710162, 31751581, 31761784, 31786856, 31787861, 31798622, 31822498, 31824171, 31828441		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG	16353168		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	19196980, 19685490, 20479250, 21633166, 22370636, 25267515, 25358515, 26587011		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CLINVAR_DG			★☆☆☆☆ 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	15067356, 16273242, 16681770, 17924977, 18221484, 19261849, 19839777, 19917135, 20664599, 21093899, 21266528, 21687953, 21984976, 22075757, 22146979, 22383975, 22586352, 22662154, 23028188, 23219661, 23235274, 23300780, 23538402, 23674493, 23702729, 23760948, 24561032, 24651628, 25141911, 25588929, 25624430, 25698082, 26045339, 26193427, 26333383, 27259051, 27388585, 27613818, 28002804, 28119489, 28202507, 28476021, 28860563, 28864978, 28886696, 28945226, 29081412, 29182407, 29206892, 29426295, 29854314, 30104481, 30338797, 30402135, 30544563, 30569174, 30574817, 30779215, 30853360, 31176047, 31233196, 31486482, 31588998		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	16380997, 17638919, 18262558, 19164214, 25106743, 25435423, 27239113, 28109079, 28384037, 28537764, 28867195, 29285246, 29456742, 29604392, 30115035, 30368517, 30636576, 30942438, 31091245, 31785047		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of floor of mouth	Malignant neoplasm of floor of mouth	CLINVAR_DG	21824802, 25157968		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	25623055, 26947513, 28656003, 28766687, 29416013, 30276551		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	16220453, 22543857		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	17362927, 19850877, 30288056, 30840265, 31007884		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	27373675, 29085504, 29299828, 29312563		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	18722373, 20197465, 24482231, 26375440, 28364599, 28887744, 29636773, 29658568, 29940988, 30779474, 30840267, 31312391, 31439713, 31638175, 31642074, 31673889		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12097266, 12714585, 15289301, 15317667, 15608678, 16930767, 17409929, 17803655, 17992665, 18757405, 19337377, 19394761, 19850869, 20375364, 20596634, 20811722, 20818420, 20959404, 21220474, 21688263, 21861134, 21996732, 22363436, 22430133, 22941571, 23045273, 23111416, 23172887, 23335533, 23370426, 23449277, 23454899, 23532889, 23728071, 23955080, 24085243, 24229705, 24444464, 24453288, 24469108, 24472538, 24533074, 24675361, 24743704, 24771645, 24788552, 24946002, 24972969, 25153497, 25266803, 25273224, 25473901, 25524703, 25573345, 25673697, 25738369, 25745045, 25861627, 26013318, 26085527, 26176612, 26334752, 26517240, 26567140, 26645682, 26667343, 26708016, 27041574, 27121230, 27177359, 27221310, 27582428, 27881463, 27930981, 28024696, 28108151, 28125432, 28173828, 28259980, 28336809, 28356026, 28662101, 28748356, 28782471, 28847905, 28901268, 29115573, 29132432, 29171984, 29269744, 29304903, 29328421, 29504919, 29508110, 29516506, 29616103, 29620222, 29669316, 29864375, 29888431, 29961813, 30058690, 30190703, 30344755, 30365050, 30431081, 30481052, 30528264, 30590030, 30779080, 30787353, 30806240, 30825612, 30896825, 31100334, 31115514, 31128006, 31158500, 31199580, 31262325, 31337981, 31452780, 31748336		★☆☆☆☆ 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	22240207, 23228846, 23597702, 23806066, 26882569, 29037125, 29432993, 30352996, 30409306, 30519710, 31755615, 31831300		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	CTD_human_DG	24224046		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	18789327, 24041865		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of oropharynx	Malignant Neoplasm Of Oropharynx	BEFREE	24599934, 30185662		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11531284, 11706404, 12874030, 15520168, 15712344, 16288007, 16452192, 16545436, 16721043, 17178867, 17377809, 18270270, 18335034, 19029838, 19172191, 19240718, 19638206, 21317880, 21372221, 21563232, 21970855, 22094188, 22340595, 22585163, 22635024, 22876838, 22955107, 23371322, 23408974, 23499052, 23591839, 23970345, 24011934, 24022196, 24036443, 24115647, 24247248, 25216292, 25677064, 25852062, 26159849, 26279473, 26657155, 26909613, 26983899, 27082164, 27681437, 27840916, 27892457, 28574782, 28848242, 29113199, 29371953, 29401696, 29743815, 29909423, 29930760, 30129654, 30237504, 30245957, 30542723, 30630630, 30755818, 30925458, 30972187, 31128298, 31284467, 31288947, 31638241, 31731647, 31752654, 9916799		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	UNIPROT_DG	15520168		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12535639, 15837735, 15851011, 16778113, 17043657, 18343945, 19405118, 20686216, 20807812, 21678117, 22170433, 22248802, 22509328, 22902833, 22952903, 23589145, 25152578, 25285629, 25376606, 26451606, 26927447, 27176210, 27220401, 27339327, 27426724, 27525871, 27845911, 28000865, 28176634, 28320094, 28360038, 28442920, 28574828, 28583586, 29204055, 29348875, 29898401, 29901184, 30046371, 30243721, 30323973, 30396902, 30464602, 30506130, 30536312, 30555743, 30575903, 30738116, 31088502, 31112530, 31128031, 31153980, 31391551, 31531884, 31631174, 31649109, 31683659		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of penis	Penile cancer	CTD_human_DG	18355852		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of penis	Penile cancer	BEFREE	29662627, 29902261, 30031830		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pharynx	Malignant Pharyngeal Neoplasm	BEFREE	16533766, 17990317, 24511546		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15788644, 16061480, 16328002, 16425184, 16651432, 17551921, 17826033, 18615538, 18942118, 19099539, 19275762, 19443396, 19633975, 19787273, 20019190, 20197460, 20203370, 20231295, 20407443, 20530556, 20940396, 21113138, 21138868, 21310825, 21575859, 22491797, 22509301, 23434594, 23585456, 23765843, 23798432, 24067903, 24163230, 24204196, 24294372, 24339862, 24652480, 24830689, 24831963, 24866151, 24972028, 24983969, 24991009, 25026288, 25120209, 25139413, 25275598, 25636507, 25640606, 25707690, 25799167, 25829425, 26124442, 26143945, 26261538, 26544944, 26577921, 26909613, 26986507, 27324222, 27357679, 27375016, 27426307, 27431052, 27470558, 27557496, 27588482, 27821815, 27928955, 27966458, 27995550, 28061438, 28123608, 28212321, 28225015, 28314838, 28319045, 28350865, 28420128, 28422286, 28442344, 28631436, 28676490, 28915623, 28977864, 29133261, 29141866, 29181846, 29316844, 29328471, 29330287, 29453322, 29581176, 29650325, 29730477, 29767248, 29792732, 29963230, 30012673, 30045927, 30112070, 30132513, 30133757, 30139961, 30142541, 30194716, 30208576, 30300679, 30320903, 30379590, 30382885, 30483810, 30581390, 30733525, 30813597, 30854108, 30973040, 31016228, 31092266, 31228307, 31296553, 31345230, 31551414, 31726118, 31814446		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881, 29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	31370278		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15784156, 15809724, 16627973, 19013893, 19143835, 20398348, 20954287, 21406037, 21841827, 21990951, 22292935, 22334453, 22543857, 22799764, 22876838, 23058013, 23196062, 23236232, 23326131, 23661031, 23743572, 23813545, 23960014, 24068565, 24276243, 24458107, 24505629, 24510342, 24726064, 24837198, 25015565, 25400827, 25613482, 25701378, 25727320, 25771729, 25815786, 25882375, 25886409, 25914465, 26107192, 26201869, 26330014, 26334097, 26398764, 26543351, 26604635, 26701847, 27006499, 27121204, 27156070, 27388016, 27470388, 27582428, 27712585, 28260026, 28453696, 28550907, 28588255, 28608528, 28671020, 28950928, 29069734, 29106389, 29208564, 29212166, 29243780, 29257342, 29278851, 29282102, 29332342, 29374144, 29422964, 29422968, 29450946, 29484141, 29522284, 29700210, 29767248, 29767389, 29802999, 29853970, 29867504, 29872314, 29905413, 29917165, 29949784, 30089248, 30134988, 30138931, 30176223, 30275715, 30302796, 30320337, 30344716, 30349304, 30389134, 30628706, 30632400, 30720166, 30747208, 30793479, 30796154, 30816492, 30952761, 30953349, 31207155, 31243897, 31297980, 31339445, 31352788, 31497207, 31527621, 31692102, 31713929, 31732769, 31737204, 31786865, 31816819, 31819646		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	22484628		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	15928251, 17317825, 17545635, 17891251, 17989125, 18000091, 18502332, 19638576, 19706758, 19907326, 20578891, 21289267, 21878896, 23128507, 23185308, 24098937, 24781864, 26265449, 26456083, 26472282, 27258970, 28042956, 28600475, 29055016, 29163356, 29236327, 29272787, 29301825, 29353884, 29969438, 30365150, 30699064, 31285773, 31289610, 31727500		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	22812189, 28525363, 30128883, 31310629, 31788102		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16885334, 19789314, 19875696, 20354165, 22285928, 22417847, 22895070, 22906492, 23300058, 24347284, 24442130, 24929024, 24952510, 25349966, 25812440, 26312564, 26597249, 26901314, 27726892, 27823983, 28069289, 28647190, 28808038, 28889395, 29070760, 29190973, 29353467, 29357370, 29383014, 29670371, 29725263, 29749527, 30845932, 30941989, 31298367, 31527329, 31605287, 31638167, 31692549, 31696468		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11357143, 11606375, 12569555, 12670921, 12714585, 15183529, 15254063, 15289331, 15520168, 15608670, 15608678, 15763568, 15784156, 15788644, 15805248, 15950905, 16096426, 16147513, 16150444, 16220453, 16274621, 16317585, 16322209, 16331247, 16341064, 16341083, 16357568, 16364744, 16432179, 16687927, 16764926, 16772787, 16861905, 16917505, 17001163, 17018259, 17050665, 17060456, 17310986, 17404510, 17409395, 17427168, 17471559, 17483325, 17502453, 17546593, 17561399, 17568777, 17626883, 17669465, 17673550, 17924977, 17928881, 17964232, 17990317, 18059185, 18097548, 18180098, 18208370, 18270270, 18281460, 18339543, 18371219, 18375489, 18385752, 18420279, 18473732, 18492751, 18676830, 18691552, 18712679, 18728396, 18755892, 18782444, 18794884, 18829560, 18830414, 18951408, 18952065, 19075596, 19076776, 19110052, 19148475, 19185485, 19237633, 19261849, 19279572, 19299143, 19305146, 19305151, 19342374, 19363621, 19389506, 19420344, 19430491, 19435890, 19435916, 19491896, 19573809, 19589091, 19591801, 19602588, 19625770, 19639178, 19697359, 19713247, 19729658, 19751211, 19789314, 19789349, 19805051, 19850869, 19875696, 19891769, 19962660, 19963098, 20007139, 20022634, 20039471, 20130907, 20169162, 20177704, 20179189, 20379197, 20381234, 20392999, 20398348, 20404174, 20409325, 20414202, 20436278, 20522531, 20530683, 20535651, 20541701, 20551061, 20551944, 20578891, 20582532, 20609351, 20622004, 20671809, 20713702, 20803067, 20844931, 20876794, 20937558, 20956547, 21051183, 21113138, 21168197, 21278436, 21303542, 21395485, 21398405, 21422497, 21473780, 21494810, 21519185, 21551261, 21558396, 21667306, 21713600, 21743495, 21744334, 21775521, 21788516, 21822287, 21830111, 21893191, 21909130, 21910030, 21912691, 21932420, 21946274, 22006429, 22020336, 22026810, 22033276, 22110663, 22120709, 22135231, 22158038, 22159814, 22221675, 22239433, 22261808, 22271473, 22307544, 22410782, 22414288, 22443084, 22453015, 22477202, 22491797, 22543588, 22545132, 22553088, 22570710, 22623730, 22647622, 22729222, 22752425, 22812189, 22835386, 22860766, 22872574, 22876838, 22898541, 22912864, 22931052, 22936352, 22949056, 22949682, 22973958, 22983389, 23028762, 23038273, 23058013, 23085539, 23112296, 23160481, 23166678, 23215719, 23232578, 23236232, 23292285, 23300274, 23313199, 23317280, 23319332, 23321674, 23354733, 23376645, 23408974, 23436801, 23437041, 23437382, 23438828, 23453624, 23483710, 23499052, 23526884, 23532336, 23548265, 23551097, 23588698, 23635776, 23642907, 23705826, 23708663, 23728071, 23783557, 23792451, 23812635, 23867565, 23873848, 23948751, 23960014, 23986086, 24043760, 24062397, 24077346, 24085243, 24088382, 24152305, 24178578, 24204196, 24231454, 24240111, 24240591, 24244612, 24248467, 24265156, 24269953, 24304721, 24356998, 24368110, 24374682, 24385586, 24459181, 24479804, 24518503, 24557434, 24561792, 24569712, 24576621, 24601221, 24608574, 24614719, 24631838, 24642661, 24648465, 24686850, 24722917, 24737887, 24769729, 24837077, 24897931, 24913553, 24969680, 24979463, 24991009, 25072857, 25082755, 25096023, 25104442, 25109960, 25126847, 25130770, 25141911, 25215588, 25275598, 25301678, 25351625, 25376370, 25420590, 25422220, 25452273, 25473901, 25544637, 25549537, 25550458, 25554016, 25557115, 25569743, 25573003, 25613482, 25684140, 25688137, 25698082, 25707690, 25722288, 25762552, 25771729, 25813410, 25823655, 25826091, 25833940, 25837824, 25850957, 25865774, 25877892, 25883022, 25908046, 25962115, 25964548, 25982275, 25995437, 26003731, 26044548, 26045339, 26080840, 26082006, 26095796, 26104578, 26116360, 26124442, 26138515, 26176612, 26181206, 26208882, 26224641, 26224873, 26261538, 26266975, 26289070, 26353837, 26460954, 26472282, 26490311, 26500061, 26549034, 26567140, 26572704, 26604635, 26627007, 26633882, 26637981, 26645663, 26658520, 26722535, 26722541, 26733612, 26748241, 26763254, 26796526, 26827608, 26839307, 26864072, 26876212, 26880266, 26880326, 26889984, 26921096, 26934321, 26937901, 26946357, 26947513, 26974310, 27007084, 27035903, 27048952, 27059323, 27156070, 27161491, 27163202, 27176210, 27191687, 27196759, 27197157, 27283966, 27292631, 27302833, 27325016, 27339942, 27342398, 27384237, 27388585, 27393705, 27420608, 27422710, 27426307, 27470558, 27489353, 27503199, 27511117, 27542768, 27582428, 27582570, 27589564, 27589846, 27590631, 27604488, 27612668, 27626684, 27628214, 27630154, 27658642, 27680505, 27756837, 27779650, 27793898, 27837251, 27870715, 27881235, 27913435, 27935819, 27940576, 27941887, 27980108, 27989859, 28002797, 28003307, 28054203, 28059163, 28061797, 28082369, 28087713, 28108151, 28109945, 28112970, 28129991, 28131786, 28132115, 28146265, 28176240, 28179590, 28194032, 28205653, 28224609, 28228253, 28249908, 28273837, 28276440, 28287114, 28315368, 28322787, 28343126, 28350104, 28356026, 28357727, 28367561, 28373445, 28376174, 28379898, 28386017, 28388280, 28392480, 28396358, 28396387, 28409639, 28423521, 28423632, 28435223, 28442534, 28446642, 28447797, 28450943, 28467889, 28468801, 28476657, 28481876, 28506751, 28515318, 28526744, 28532501, 28537878, 28550454, 28554019, 28583586, 28594589, 28615225, 28619980, 28619981, 28623230, 28630349, 28637688, 28640835, 28652248, 28655764, 28666866, 28677816, 28693263, 28713374, 28718419, 28743532, 28758175, 28800461, 28802037, 28806782, 28808038, 28808415, 28814887, 28838997, 28842968, 28851839, 28853539, 28857471, 28859574, 28864640, 28877984, 28889395, 28923280, 28969535, 29055016, 29061642, 29068474, 29074462, 29086897, 29088902, 29097657, 29107429, 29115462, 29127587, 29145206, 29150437, 29156674, 29169370, 29170395, 29179250, 29190313, 29200870, 29219001, 29238073, 29246942, 29273632, 29279775, 29284706, 29286307, 29296217, 29306979, 29326691, 29326882, 29343273, 29348577, 29353467, 29357370, 29358688, 29373905, 29374181, 29397960, 29408410, 29408858, 29410116, 29424321, 29435055, 29437705, 29440171, 29456661, 29470683, 29472518, 29475582, 29490947, 29506489, 29508857, 29535720, 29558998, 29559471, 29563327, 29567475, 29568394, 29568883, 29572236, 29616047, 29621663, 29670543, 29674246, 29706964, 29716938, 29719293, 29719595, 29729098, 29743718, 29760043, 29799306, 29844859, 29851132, 29862966, 29868481, 29925528, 29928328, 29937355, 29940988, 29978469, 29980517, 29991713, 30008846, 30023773, 30026672, 30030980, 30038340, 30062004, 30075505, 30147333, 30150413, 30174412, 30190422, 30190795, 30191811, 30197175, 30217221, 30221743, 30226540, 30257389, 30269363, 30300952, 30321514, 30333046, 30341384, 30388053, 30406111, 30410397, 30428062, 30429249, 30442683, 30498491, 30499396, 30511242, 30519710, 30533316, 30552990, 30565691, 30576338, 30577600, 30582752, 30592328, 30602575, 30620381, 30649751, 30675261, 30679179, 30683135, 30710631, 30714617, 30717619, 30718284, 30742905, 30747208, 30755818, 30774762, 30782187, 30813656, 30832253, 30842251, 30843693, 30849534, 30855339, 30866419, 30877085, 30881282, 30881494, 30883028, 30922959, 30927432, 30942405, 30948643, 30951826, 30952707, 30971889, 30971929, 30979616, 30982497, 30999672, 31025080, 31032340, 31036418, 31059051, 31072323, 31106493, 31127138, 31131274, 31185594, 31187710, 31188922, 31209687, 31215384, 31234823, 31235839, 31244112, 31247018, 31250153, 31251469, 31319350, 31323288, 31359259, 31366089, 31374965, 31393501, 31408676, 31417861, 31425802, 31461270, 31461863, 31477842, 31478386, 31492635, 31545285, 31545473, 31558467, 31560953, 31581005, 31585260, 31596728, 31600013, 31601147, 31618458, 31620236, 31621846, 31626273, 31632439, 31634770, 31638167, 31665227, 31668943, 31678210, 31686003, 31692035, 31705880, 31717544, 31741715, 31752127, 31753040, 31766246, 31772118, 31788078, 31788102, 31790629, 31792765, 31801949, 31812693, 31830561, 31831213, 31831562, 31846325, 9916799		★☆☆☆☆ 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	31092379		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	21216929, 22071650, 23607916, 28945300		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	10851074, 12122098, 20657188, 21663621, 22229477, 22235101, 23266353, 23899375, 25135429, 25310288, 25738254, 25962638, 26183061, 26358014, 26802646, 27388585, 28036259, 28475243, 28587748, 28864978, 29175387, 29236322, 29312623, 29316891, 29328485, 29423104, 29777148, 29898430, 30006571, 30075505, 30127216, 30272334, 30459531, 30480801, 30547809, 30552693, 30619121, 30641218, 30952619, 31056260, 31210294, 31295843, 31350972, 31545455, 31666350		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10625637, 12473596, 15930273, 15994075, 16153452, 16772787, 17363507, 17575153, 18064605, 18224685, 18339877, 18627290, 19237633, 19572978, 20204404, 22357840, 22543857, 22752425, 23251002, 23572025, 23593290, 23617638, 23633456, 23708654, 23792451, 23878352, 24339949, 24355100, 24398569, 24756222, 24930890, 25199763, 25314071, 25541970, 25554016, 25641861, 25732087, 25884297, 26225471, 26350096, 26471487, 26553611, 26615871, 28259918, 28432271, 28782499, 28811711, 28881576, 28928860, 28979133, 29130099, 29169325, 29305742, 29523145, 29556349, 29560517, 30023564, 30195873, 30257389, 30396937, 30551398, 30941956, 30944457, 30963391, 31500630, 31510692, 31596728		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Uterine Corpus Neoplasm	Malignant Uterine Corpus Neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	30716082		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	19196980, 19685490, 20479250, 21633166, 22370636, 25267515, 25358515, 26587011		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CLINVAR_DG	15254419, 15647370, 15805248, 18676830, 18725974, 20453058, 21558396, 22162582, 22162589, 23066039, 23888070, 25157968, 26619011		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15625017, 16168105, 16317585, 18022911, 18167534, 18284215, 18371219, 19276248, 19573809, 19898424, 20530877, 20551053, 20569503, 20591134, 20712882, 21209903, 21406469, 21482677, 21490305, 21512767, 21617917, 22033276, 22370636, 22538770, 22640628, 23184205, 23633485, 23999432, 24147022, 24166508, 24170767, 24318467, 24991009, 25195596, 25679319, 25877889, 26266985, 26500061, 27015560, 27048245, 27088857, 27282497, 27292631, 27484095, 27491861, 27974663, 28176176, 28929029, 29143998, 29472518, 29486734, 29719270, 29880805, 30042442, 30420699, 30692633, 31100334, 31139940, 31219154, 31391067, 31532771		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15805248, 16168105, 16317585, 16582596, 17006756, 17936563, 18074223, 18183466, 18679714, 18990689, 19027487		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	19196980, 19685490, 20479250, 21633166, 22370636, 25267515, 25358515, 26587011		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	19196980, 19685490, 20479250, 21633166, 22370636, 25267515, 25358515, 26587011		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	27789311		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	16645163, 17606765, 19723646, 22107151, 22116552, 23341541, 23580240, 23676220, 24273091, 25082755, 26549638, 26961147, 27894215, 28533307, 29483220, 29961897, 30558987, 30701029		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	31807935		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	25641861, 27325016		★☆☆☆☆ Found in Text Mining only
Mediastinal (Thymic) Large B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	17375124		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	17188151, 23934677, 26081844		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	15289301, 16398471, 16707597, 18281460, 21652733, 23455179, 24584142, 25601471, 25915540, 28035748, 28159923, 28598542, 29377550, 29682173, 29805559, 30050750, 30842251, 31492956		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	15289301, 18980969		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	25915540	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome	Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome	CTD_human_DG	22729224		★☆☆☆☆ Found in Text Mining only
Megalencephaly cutis marmorata telangiectatica congenita	Megalencephaly Cutis Marmorata Telangiectatica Congenita	GENOMICS_ENGLAND_DG	19011570, 22729223, 22729224, 27030595		★☆☆☆☆ Found in Text Mining only
Megalencephaly cutis marmorata telangiectatica congenita	Megalencephaly Cutis Marmorata Telangiectatica Congenita	ORPHANET_DG	22729224		★☆☆☆☆ Found in Text Mining only
Megalencephaly cutis marmorata telangiectatica congenita	Megalencephaly Cutis Marmorata Telangiectatica Congenita	UNIPROT_DG	22729224, 26593112		★☆☆☆☆ Found in Text Mining only
Megalencephaly cutis marmorata telangiectatica congenita	Megalencephaly Cutis Marmorata Telangiectatica Congenita	CLINVAR_DG	22729224		★☆☆☆☆ Found in Text Mining only
Megalencephaly cutis marmorata telangiectatica congenita	Megalencephaly Cutis Marmorata Telangiectatica Congenita	BEFREE	24782230, 24939587, 29549527, 30231930, 31014174, 31729162, 31850301		★☆☆☆☆ Found in Text Mining only
MEGALENCEPHALY, AUTOSOMAL DOMINANT	Megalencephaly	CLINVAR_DG	31568861		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megalencephaly-capillary malformation-polymicrogyria syndrome	Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16273242, 16470169, 16567976, 17039502, 17318262, 17388918, 17492934, 18323781, 18375489, 19342374, 19810100, 21829508, 22417301, 22453015, 22549727, 22693259, 22808163, 22912864, 23039341, 23077590, 23112250, 23246970, 23355370, 23383069, 23431193, 23443536, 23444215, 23554059, 24133630, 24178756, 24200692, 24201813, 24258993, 24288008, 24313465, 24600206, 24803579, 24812408, 24890688, 24920406, 24947927, 25165098, 25168062, 25370471, 25472943, 25627962, 25712345, 25848750, 26356562, 26509654, 26577700, 26640950, 26678033, 26884185, 27017286, 27196754, 27248171, 27999416, 28064546, 28092667, 28233937, 28368422, 28380455, 28543695, 28774796, 29210065, 29304903, 29532857, 29969627, 29980517, 29990500, 30237495, 30325319, 30340844, 30385854, 30613786, 30793515, 30854129, 31048499, 31138602, 31277584, 31413145, 31599425		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	19383818, 21169255, 22475322, 25627962, 28870692, 31277584	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CLINVAR_DG	24265155, 25157968		★★★★☆ 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 Cutaneous Malignant	Melanoma	Pubtator	26744134	Associate	★☆☆☆☆ Found in Text Mining only
Meleda Disease	Meleda Disease	BEFREE	21637744		★☆☆☆☆ Found in Text Mining only
Memory dysfunction	Memory Disorders	BEFREE	30127118		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	19877719, 23285163, 25998419, 26826201, 27550858, 28610844, 28737257, 29206892, 29424888, 29852774, 30379704, 31077268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	Pubtator	26826201, 27548314, 29206892, 33087175	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	27483380, 30063009, 30105773, 31353678, 31491407, 31618892, 31770536		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	Mental retardation	BEFREE	29976496		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	22261808, 22363598, 26238782, 26536665, 30038704, 30073632		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	18511708, 22019695, 24419422, 30582752		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	20839315, 25514803	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	BEFREE	31345368		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30266989		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	24555840, 24784704, 27766312, 29044143, 30288995, 31512260		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	19047166, 22912864, 25168062, 26790143, 28921907, 31115969, 31470659, 31586634		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	16288293, 19903888, 29858226, 31296553		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micronodular cirrhosis	Micronodular cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	30787173		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	28791398		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	31849586		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	28623977		★☆☆☆☆ Found in Text Mining only
MiT family translocation renal cell carcinoma	Renal Carcinoma	BEFREE	30061365		★☆☆☆☆ Found in Text Mining only
Mixed Tumor, Mullerian	Mixed Tumor, Mullerian	BEFREE	23013731		★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	28459375		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	29250741, 9857977		★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	17303436		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	24186142, 27834349, 31036078, 32473611, 32792599, 36812689	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	24224046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Neoplasms	Mouth neoplasm	Pubtator	25631445, 26191320, 29037125	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	22705004, 23708654		★☆☆☆☆ Found in Text Mining only
Mucinous carcinoma of breast	Mucinous Carcinoma Of Breast	BEFREE	22705004, 30789657		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	30282066		★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	Pubtator	22460814	Associate	★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	22266152		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	16847462, 17376864, 22228622, 22729224, 23246288, 23754335, 24497998, 25557259, 26301495, 26593112, 27426476, 27631024, 27870750, 28941273		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	23840053		★☆☆☆☆ Found in Text Mining only
Multiple lipomata	Multiple Lipomata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12149650, 13679867, 20022634, 20505158, 21475253, 22415553, 22955917, 22985491, 23185517, 23318440, 25060991, 25197055, 25369735, 25422161, 25837824, 25915427, 27144172, 27439454, 27559096, 27626482, 27686868, 28282033, 28350342, 28512269, 28977849, 29254208, 29322846, 29963125, 30132507, 30338809, 30401630, 30664164, 30712673, 30787971, 30867372, 30954557, 31148590, 31284669, 31498483, 31564190, 31571328		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	24405121, 27559096	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	24412596, 27890794, 29492193, 31212712		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	16764926, 22351695, 27988397, 29749435		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	40442218	Associate	★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	23382981, 23445613		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	24569456		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15833859, 18184863, 18644865, 19357699, 21288887, 21596859, 23180012, 24603487, 24806995, 25644089, 25837664, 25855199, 26722450, 27018341, 27875938, 28069548, 28435223, 28986256, 29549929, 29710665, 29762880, 29934492, 30796703, 31097376, 31515296		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	21907926, 23445613, 23748344, 24237791, 24251790, 24290217		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	17172449, 17225869, 25936391, 28115595, 28453729, 29043508, 29276114, 29424913, 30017933, 30323868, 30487059, 30679990, 30905784, 31169981, 31313516, 31599782		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	25787015, 29658565, 29689553, 30402501, 31082728, 31120192, 31297863, 31377586		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myxoid/Round Cell Liposarcoma	Myxoid Liposarcoma	BEFREE	22020193, 28637688		★☆☆☆☆ Found in Text Mining only
Myxoma	Myxoma	BEFREE	22306204		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	11836556, 15586224, 18202777, 18452707, 18789327, 19012001, 19276680, 19735264, 20927779, 23681229, 24041865, 24668670, 25126743, 25351620, 26084990, 26568302, 26581613, 27876891, 28450943, 28586035, 28720063, 29409973, 29491062, 29525743, 29636781, 29693120, 29789630, 29882205, 29936709, 29963130, 29973197, 30374682, 30402158, 30403591, 30459351, 30582216, 30651769, 30834525, 30936832, 30944308, 30982497, 31328403, 31334669, 31383854, 31403940, 31408612, 31521748, 31598395		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	19027487, 19735264, 25963410, 26581613, 28581676, 30950204, 35562651	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	CTD_human_DG	24952746		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Nausea	Nausea	Pubtator	35138919	Associate	★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	11358835		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	29545879		★☆☆☆☆ Found in Text Mining only
Neoplasm of skeletal system	Neoplasm of skeletal system	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10492640, 10749120, 10972292, 11071655, 11358835, 11359902, 11401316, 11585776, 11706404, 11803474, 11959846, 12149650, 12430714, 12435856, 12535639, 12548599, 12569555, 12796399, 12874030, 14522885, 14555504, 14581340, 14581353, 14597629, 14603260, 14605666, 14655756, 15282551, 15342383, 15342917, 15361839, 15520168, 15543611, 15548710, 15591514, 15605984, 15608678, 15647370, 15712344, 15784156, 15805248, 15809724, 15837735, 15851011, 16115952, 16162974, 16168105, 16184552, 16267002, 16286246, 16322209, 16353168, 16380997, 16432179, 16461335, 16618740, 16645045, 16651432, 16721043, 16772787, 16775835, 16822308, 16885334, 16912159, 16912192, 16917505, 16949921, 17013611, 17052259, 17062663, 17188151, 17218472, 17258789, 17314276, 17377809, 17405772, 17409929, 17427168, 17468516, 17546603, 17549376, 17551921, 17559806, 17561399, 17575221, 17826033, 17924977, 17942896, 17954274, 17964232, 17992665, 18059185, 18084252, 18097548, 18180098, 18248818, 18335034, 18339867, 18371219, 18413797, 18474617, 18511708, 18541712, 18558293, 18587247, 18619647, 18621636, 18622646, 18641990, 18676830, 18679714, 18725974, 18755892, 18757405, 18794877, 18794884, 18829560, 18852163, 19029838, 19047166, 19080742, 19095950, 19110052, 19117997, 19148475, 19172191, 19200708, 19205734, 19237633, 19261849, 19275762, 19276248, 19279572, 19305151, 19321861, 19372546, 19384955, 19394761, 19395652, 19401449, 19407556, 19411062, 19411071, 19412426, 19418217, 19420344, 19435890, 19435893, 19437103, 19440799, 19443396, 19487288, 19492075, 19509163, 19584164, 19588205, 19671852, 19685490, 19701705, 19731079, 19735264, 19789314, 19805051, 19806185, 19810100, 19818761, 19839777, 19850869, 19903845, 19963098, 20014924, 20056651, 20062086, 20103678, 20107891, 20116920, 20173732, 20177704, 20379197, 20407443, 20479250, 20551061, 20569675, 20591134, 20593314, 20610278, 20664988, 20699365, 20735817, 20736378, 20803067, 20940279, 20940396, 20951698, 21045147, 21118047, 21135276, 21196179, 21209903, 21216929, 21225506, 21273607, 21310649, 21321202, 21332555, 21335596, 21355080, 21362200, 21388951, 21397855, 21406469, 21425139, 21430697, 21454687, 21473780, 21474066, 21482676, 21482677, 21490305, 21494810, 21519185, 21527065, 21531001, 21538561, 21558396, 21563232, 21617917, 21618540, 21676217, 21712828, 21720709, 21725613, 21793738, 21822287, 21830111, 21903247, 21906875, 21909130, 21910030, 21945955, 21966435, 21980390, 21984975, 21990951, 21996738, 22020193, 22026810, 22045983, 22059152, 22064833, 22067401, 22071650, 22075556, 22082146, 22107151, 22120431, 22126964, 22135231, 22157930, 22189472, 22213219, 22229245, 22245973, 22285706, 22301702, 22330809, 22340730, 22357840, 22363436, 22370636, 22392911, 22411898, 22421194, 22475322, 22481496, 22493273, 22496919, 22505453, 22508672, 22522847, 22532600, 22549727, 22550168, 22569004, 22609107, 22638623, 22640628, 22675430, 22684718, 22692904, 22736407, 22777351, 22798500, 22821509, 22845481, 22847424, 22897848, 22906543, 22911820, 22912864, 22915751, 22915752, 22952903, 22955107, 22971992, 22973958, 22983922, 23013731, 23028762, 23030486, 23065523, 23073979, 23077590, 23086777, 23092874, 23117887, 23125007, 23133403, 23136191, 23136247, 23144797, 23158210, 23160634, 23172887, 23184205, 23186780, 23196793, 23200321, 23211222, 23219661, 23228846, 23239809, 23258740, 23261230, 23266353, 23296808, 23314198, 23319441, 23319822, 23332287, 23335533, 23343422, 23374602, 23384338, 23392229, 23408974, 23409016, 23429431, 23443536, 23444215, 23467835, 23471846, 23500101, 23509792, 23520486, 23532889, 23533233, 23542178, 23555892, 23572025, 23582881, 23588386, 23593290, 23599148, 23616356, 23619167, 23629727, 23633485, 23633918, 23640975, 23643389, 23650412, 23667466, 23674493, 23676220, 23676460, 23679233, 23685749, 23699387, 23705826, 23708654, 23728594, 23743567, 23743572, 23744781, 23764004, 23785428, 23803025, 23826249, 23837763, 23884447, 23888070, 23896716, 23899375, 23921550, 23934607, 23936502, 23945331, 23948973, 23976985, 23982433, 23986086, 23990456, 23999432, 24031087, 24040255, 24043760, 24048331, 24062397, 24076665, 24098937, 24136889, 24152305, 24166148, 24168180, 24170767, 24175777, 24178578, 24186142, 24200692, 24229709, 24231454, 24240111, 24262879, 24284056, 24288008, 24291216, 24302555, 24316979, 24318467, 24322983, 24323026, 24339949, 24347284, 24352906, 24370118, 24393708, 24395457, 24420152, 24436048, 24447333, 24451154, 24467951, 24469055, 24471188, 24498881, 24503755, 24504125, 24504677, 24518503, 24533074, 24554201, 24557434, 24561032, 24576621, 24582960, 24599934, 24601221, 24606897, 24608574, 24610641, 24619078, 24634413, 24648465, 24662921, 24673525, 24708766, 24722917, 24737664, 24737887, 24746199, 24746758, 24789658, 24797434, 24803579, 24812411, 24828662, 24837198, 24840574, 24863535, 24879796, 24897931, 24910434, 24920549, 24947930, 24979463, 24984002, 24986896, 24991009, 24997156, 25002028, 25015834, 25017791, 25023548, 25070358, 25071014, 25078343, 25093594, 25103565, 25109960, 25110432, 25122428, 25137394, 25172762, 25199759, 25214541, 25220666, 25245477, 25266798, 25267489, 25274248, 25311989, 25326806, 25330188, 25349966, 25361917, 25361980, 25366782, 25367198, 25376606, 25381262, 25409150, 25422220, 25450577, 25451255, 25461771, 25482044, 25544636, 25547910, 25554016, 25557290, 25559813, 25559818, 25596284, 25622909, 25636507, 25639985, 25640278, 25641339, 25641861, 25677064, 25683705, 25712345, 25712460, 25714556, 25714871, 25724520, 25736040, 25742786, 25749378, 25749388, 25762617, 25771729, 25773678, 25826091, 25839328, 25850957, 25868852, 25877889, 25877892, 25886409, 25889301, 25908046, 25913740, 25929848, 25953087, 25962638, 25980577, 25982275, 25994739, 25995437, 25998419, 26001593, 26004768, 26013318, 26045339, 26067136, 26070568, 26082006, 26122737, 26148232, 26158412, 26160280, 26173098, 26181352, 26215952, 26216163, 26216840, 26224681, 26245675, 26266975, 26266985, 26267533, 26271341, 26276352, 26279473, 26289070, 26299806, 26301495, 26325104, 26333383, 26334097, 26354852, 26432405, 26452060, 26472282, 26486734, 26498688, 26500061, 26503204, 26517521, 26536665, 26549638, 26567140, 26573229, 26577700, 26577921, 26617744, 26617767, 26630576, 26680641, 26712086, 26722541, 26758558, 26766736, 26796526, 26823766, 26823817, 26824764, 26832731, 26876212, 26887047, 26902599, 26909613, 26943575, 26947331, 26974310, 26992457, 27002107, 27012708, 27016225, 27016421, 27017286, 27048952, 27057633, 27059323, 27070496, 27082119, 27088857, 27091708, 27095166, 27126994, 27129168, 27130196, 27130468, 27137076, 27177864, 27184134, 27184479, 27196754, 27211281, 27265061, 27270588, 27270901, 27302833, 27369359, 27374168, 27375016, 27379604, 27391152, 27405731, 27435399, 27436848, 27441415, 27465249, 27470558, 27471841, 27484095, 27491860, 27491861, 27507618, 27510461, 27528625, 27529345, 27535334, 27570430, 27572273, 27582428, 27582570, 27611696, 27630154, 27637583, 27737877, 27748285, 27765922, 27791012, 27797976, 27803006, 27807828, 27811202, 27824297, 27835884, 27848885, 27863432, 27879995, 27889608, 27903677, 27926496, 27930981, 27940576, 27941987, 27960601, 27974663, 27986750, 27995550, 28002802, 28002804, 28003307, 28025078, 28069289, 28071763, 28073005, 28087713, 28093061, 28123607, 28132399, 28143957, 28153863, 28173828, 28177435, 28184015, 28188750, 28206962, 28222664, 28228253, 28232476, 28247844, 28249908, 28252027, 28263318, 28273837, 28275119, 28280276, 28281183, 28286604, 28296140, 28327999, 28330468, 28331003, 28348046, 28350098, 28351943, 28378642, 28380455, 28384037, 28392480, 28404374, 28415744, 28445112, 28453696, 28454214, 28459375, 28468801, 28482067, 28498287, 28498781, 28522609, 28532501, 28537878, 28545028, 28551845, 28561737, 28576675, 28579200, 28592260, 28598238, 28603282, 28618197, 28630349, 28631436, 28637905, 28640835, 28648934, 28662101, 28687441, 28688971, 28710365, 28723560, 28730764, 28734796, 28750640, 28765120, 28771191, 28775144, 28776573, 28783168, 28808038, 28811223, 28815764, 28829592, 28848242, 28860342, 28860563, 28881576, 28891094, 28923280, 28942013, 28945226, 28945300, 28969535, 28970292, 28994108, 29040676, 29042961, 29052531, 29055016, 29072370, 29080392, 29081412, 29084199, 29085498, 29106415, 29110152, 29125886, 29133593, 29153866, 29156674, 29169325, 29170395, 29175105, 29180042, 29184057, 29206892, 29212165, 29219001, 29231959, 29238073, 29246942, 29261439, 29279775, 29286307, 29312623, 29316844, 29331750, 29348486, 29392777, 29401002, 29407971, 29408595, 29432993, 29433740, 29434887, 29435055, 29437705, 29440171, 29455665, 29460925, 29467326, 29470143, 29470683, 29470838, 29477378, 29484141, 29487419, 29518290, 29540052, 29540490, 29549127, 29550515, 29552226, 29552308, 29562639, 29562961, 29572236, 29579319, 29598951, 29636477, 29650325, 29685880, 29687840, 29689598, 29695638, 29698927, 29729098, 29748541, 29760043, 29760047, 29763625, 29776351, 29844397, 29848992, 29849718, 29868481, 29901097, 29902286, 29911928, 29924958, 29942710, 29952249, 29959202, 29970482, 29970892, 29985991, 30001368, 30031830, 30045927, 30051890, 30076862, 30093452, 30097489, 30130984, 30133757, 30139984, 30160115, 30195142, 30212483, 30235292, 30237495, 30237504, 30239581, 30246429, 30266251, 30272236, 30275715, 30289966, 30302796, 30333046, 30333121, 30343258, 30344716, 30352904, 30368517, 30399177, 30474474, 30483746, 30483877, 30506278, 30506943, 30519710, 30528264, 30543347, 30544563, 30545790, 30547809, 30551398, 30556851, 30582752, 30587236, 30590030, 30591513, 30603906, 30610794, 30630630, 30634138, 30636581, 30652258, 30655739, 30683135, 30689149, 30689692, 30705430, 30710631, 30718284, 30720124, 30722993, 30733438, 30770351, 30776175, 30782187, 30782609, 30789971, 30790744, 30841886, 30851247, 30867034, 30867161, 30867372, 30867772, 30871481, 30894372, 30925702, 30930461, 30942405, 30942438, 30952761, 30975125, 30981504, 30991262, 30999672, 31016228, 31018249, 31018997, 31024258, 31034097, 31038235, 31057104, 31069145, 31074594, 31112530, 31115571, 31163957, 31230505, 31254443, 31258788, 31262325, 31277699, 31297647, 31305404, 31328403, 31349748, 31360067, 31360068, 31374965, 31391067, 31391455, 31402321, 31414579, 31425802, 31427284, 31433956, 31472672, 31492635, 31516747, 31531063, 31541884, 31541887, 31545453, 31548239, 31551414, 31570656, 31591478, 31597912, 31603993, 31617074, 31619463, 31624127, 31629932, 31636720, 31638213, 31656319, 31663655, 31678210, 31692549, 31700903, 31785230, 31822716, 31823159, 31832114, 31832711, 31844152, 31848194, 9446703		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	28486691, 30018387		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	21361912		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	18511807, 27191687, 28322459, 30338213, 30649196		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	30144073		★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrosis	BEFREE	30210600		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	30210600		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29867948, 30567315, 31133639		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	22821509, 25217104, 25245477		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12438236, 12485836, 15065019, 15882878, 16769337, 16778834, 16822308, 16912192, 18026138, 18278068, 18973553, 19211844, 20811723, 21225506, 21355080, 22135231, 23232578, 23378341, 23468863, 24026661, 24823994, 25134527, 25228590, 25622909, 26224681, 26432405, 26687764, 27278249, 27533468, 27649927, 28840510, 28881723, 28919254, 29137381, 29204750, 29352113, 29398519, 29499203, 30722993, 31150649, 31310053, 31638167, 31704096		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma	Neuroblastoma	Pubtator	23900341, 25293506, 31698611	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma	Neuroblastoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurocutaneous Syndromes	Neurocutaneous Syndromes	BEFREE	26706010, 28265819		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36229517	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21195169, 28383489, 28495385, 29650257, 29965873, 30154448, 30611996, 30707354, 30922159, 31639492		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31211828		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	23455179, 31261148		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	19917848, 22499437, 25441311, 26087898, 26978006, 27355335, 27513674, 28344663, 28800359, 29146887, 29212165, 30588264		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	27427238		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	16461335, 17053831, 22544507, 25092287, 26479420, 27427238, 28534510, 29926297		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	28468780, 28737257		★☆☆☆☆ Found in Text Mining only
Neuroma	Neuroma	BEFREE	28665924		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	31461843		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	31849648		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	30090490		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	29108713, 29615799		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
NEVUS, EPIDERMAL (disorder)	Epidermal nevus	BEFREE	17673550, 18728396, 19122450		★☆☆☆☆ Found in Text Mining only
NEVUS, EPIDERMAL (disorder)	Epidermal nevus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
NEVUS, EPIDERMAL (disorder)	Epidermal nevus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nevus, Keratinocytic, Nonepidermolytic	Nonepidermolytic Keratinocytic Nevus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	26084990		★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	18835245		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28146130, 28905319, 29172017, 29228666, 29350678, 29990865, 30484310, 30805986, 31187710, 31551937, 31796646		★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	BEFREE	31832114		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12714585, 14581340, 15526754, 16003751, 16115952, 16909043, 17001163, 17681398, 18757405, 19513541, 19553005, 20026060, 20866043, 20884074, 21258250, 21325072, 21421804, 21507233, 21688263, 21861134, 22037177, 22095222, 22247021, 22363436, 22430133, 22489661, 22522453, 22901187, 23270470, 23332287, 23454899, 23525575, 23564819, 23625155, 23728071, 24055012, 24071646, 24133589, 24328409, 24389182, 24444464, 24471765, 24486107, 24533074, 24550137, 24662916, 24675361, 24736592, 24804226, 24946933, 24972969, 24983493, 25122774, 25304988, 25341405, 25473901, 25691296, 25746385, 26019170, 26053643, 26061184, 26108998, 26149216, 26176612, 26203858, 26339598, 26536195, 26555006, 26711930, 26752307, 26777916, 26802652, 26919096, 27007084, 27082424, 27121230, 27127129, 27215271, 27236384, 27248324, 27748834, 27765909, 27815359, 27880728, 27930974, 28093061, 28167505, 28210267, 28293123, 28378642, 28404902, 28423589, 28459375, 28477368, 28534966, 28662101, 28713974, 28715819, 28797845, 28901419, 28992562, 29131028, 29151950, 29191607, 29207097, 29208568, 29328421, 29345289, 29362431, 29374181, 29387228, 29393481, 29436654, 29524402, 29526543, 29552215, 29556279, 29558998, 29669316, 29731854, 29762835, 29767245, 29803922, 29896260, 29901139, 29928341, 30066933, 30087612, 30098066, 30125547, 30145802, 30226581, 30268455, 30290307, 30309221, 30310502, 30381967, 30393483, 30420490, 30450569, 30478628, 30496626, 30535430, 30542737, 30640793, 30779077, 30796356, 30797236, 30825612, 30854106, 30867754, 30889481, 30896825, 30941980, 30942425, 30991262, 31024010, 31055884, 31060329, 31074594, 31085700, 31105808, 31114247, 31119047, 31123168, 31190892, 31213835, 31262325, 31262731, 31310954, 31360122, 31421833, 31444970, 31485626, 31497240, 31521695, 31681988, 31762810, 31802909, 31823159		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Non-Small Cell Lung Carcinoma	Lung carcinoma	CLINVAR_DG	15016963, 15254419, 15647370, 16906227, 16930767, 18725974, 19029981, 19513541, 20453058, 21430269, 22162589, 25157968		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Non-Small Cell Lung Carcinoma	Lung carcinoma	CGI_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	28194671		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	20551053, 22252965, 24186142, 24634376, 27581127, 28084333, 30844755, 31357602, 31420779		★☆☆☆☆ Found in Text Mining only
Nonmedullary Thyroid Carcinoma	Nonmedullary thyroid carcinoma	BEFREE	26138515		★☆☆☆☆ Found in Text Mining only
NUT midline carcinoma	Carcinoma	BEFREE	27980108		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20107106, 21082206, 23688012, 24333006, 28351943, 28842968, 29574066, 29724723, 30263000, 30528731, 30563932, 30922122, 30948720, 31497027, 31502860		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	33197880	Inhibit	★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	24597478	Associate	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	25047029	Associate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	19366795, 19435893, 19609946, 19844788, 20479250, 20569503, 21362200, 21420991, 22096658, 22640628, 23301057, 24520381, 25158023, 25491778, 26733612, 27491861, 27771839, 28336670, 28910567, 29127189, 29252036, 29507656, 29686231, 30315845, 31013327, 31221824, 31391067, 31439579		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	LHGDN	15289301		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	30975663		★☆☆☆☆ Found in Text Mining only
Oncocytoma, renal	Oncocytoma of kidney	BEFREE	29353061		★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	30184529		★☆☆☆☆ Found in Text Mining only
Opsoclonus-Myoclonus Syndrome	Opsoclonus-myoclonus syndrome	BEFREE	30718793		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Nerve Glioma	Optic Nerve Glioma	BEFREE	25534823		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	38050610	Associate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	24341335, 24599934, 29714670, 30185662		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	23408298, 23852799, 24341335, 30185662	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	31886215	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	32052902	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	31777535		★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	27601172, 29257253, 30186461, 30550742, 31250662		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28880271, 29710518		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	27756897, 28408345, 29115382, 29571022, 30221712, 31389578		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	38364892	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	29158773, 30735778, 31301305, 31611520		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	16764926, 22006429, 23202914, 23208072, 23372675, 24175786, 24366211, 24447333, 24685520, 24835790, 25351625, 25512523, 25747987, 25862761, 26036761, 26062523, 26135006, 26165148, 26202364, 26503469, 26633383, 27314445, 27352347, 27840963, 27983923, 27983930, 28053596, 28061797, 28256910, 28289332, 28401012, 28404949, 28565856, 28586029, 28623712, 28857346, 28903329, 28932123, 29029415, 29207060, 29213214, 29323740, 29393336, 29412697, 29434694, 29435436, 29568924, 29635391, 29805503, 29807230, 29845216, 29909077, 29936511, 30014744, 30092789, 30182951, 30249882, 30258193, 30268473, 30280767, 30481748, 30506278, 30536897, 30657552, 30840262, 31000382, 31010399, 31011522, 31114985, 31116090, 31126199, 31340526, 31485669, 31516594, 31545400, 31601147, 31705676, 31807064, 31810390, 31850493		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	22006429, 24175786, 26036761	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	31837294		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	17377809, 18270270, 23408974, 23499052, 25216292, 27840916		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	19349352, 20826764, 21898874, 22157930, 22705003, 22955107, 24299208, 24336158, 25281027, 25756515, 26276776, 27681437, 28728166, 29632642, 30217369, 30851247, 31319139, 31713081, 31737183		★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	19349352, 21216929, 36800542	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	28289071, 29437881, 29444704, 29725001, 29851197, 31009706, 31847241		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	11531284, 12874030, 15520168, 16452192, 16545436, 16721043, 17178867, 17377809, 18270270, 18335034, 19029838, 19172191, 19240718, 21372221, 22094188, 22340595, 22585163, 22955107, 23371322, 23499052, 23591839, 23970345, 24011934, 24022196, 24115647, 24247248, 25677064, 25852062, 26159849, 26279473, 26657155, 26909613, 26983899, 27082164, 27681437, 28574782, 29113199, 29371953, 29401696, 29743815, 29909423, 29930760, 30129654, 30237504, 30245957, 30542723, 30755818, 30925458, 30972187, 31128298, 31284467, 31288947, 31638241, 9916799		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	CLINVAR_DG	15647370, 16353168, 18371219, 19671852, 20177704, 22271473		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	LHGDN	16203798, 17341442, 17377809		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	CGI_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15028555, 16721043, 18335034, 19029838, 19240718, 19349352, 19638206, 20826764, 21216929, 21563232, 21744334, 21931712, 22271473, 22556379, 23174937, 23408974, 24023729, 24336158, 24338723, 24523919, 25394645, 25545608, 25692284, 26937756, 26945423, 27426307, 27791010, 27892457, 28415744, 28734796, 28888422, 29169370, 29793804, 31030485, 31054497, 31340883, 31538426, 31748433, 31902686, 32139151, 32473611, 32585451, 32599986, 32616873, 32650224, 33020491, 33273524, 33475035, 33723724, 34172890, 34697060, 34944094, 35735430, 35761259, 35816189, 36289203, 36311816, 36721777, 36828346, 37185420, 37272300, 37567101, 37628682, 38606821, 39336800	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian papillary adenocarcinoma	Ovarian papillary adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	28025797		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12535639, 15851011, 16778113, 17043657, 18343945, 19405118, 20686216, 20807812, 21678117, 22170433, 22248802, 22509328, 22902833, 22952903, 23589145, 25152578, 25285629, 25376606, 26451606, 26927447, 27176210, 27220401, 27339327, 27426724, 27525871, 27845911, 28000865, 28176634, 28320094, 28360038, 28442920, 28574828, 28583586, 29204055, 29348875, 29753186, 29898401, 29901184, 30046371, 30243721, 30323973, 30396902, 30464602, 30506130, 30536312, 30551529, 30555743, 30575903, 30738116, 31088502, 31112530, 31128031, 31153980, 31531884, 31631174, 31649109, 31683659		★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic cyst	Pubtator	26253305, 28970292	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	17483325, 18343945, 19440799, 20876794, 23453624, 24895459, 25452273, 25673820, 27705906, 28176634, 28544376, 29040676, 29300353, 29386088, 29526843, 29670543, 29898401, 30087712, 30233242, 30261145		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	16778113		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	21350002, 22116519, 22952903, 22975375, 23342270, 24518503, 25311989		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16778113, 18343945, 23342270, 24518503, 26091808, 27525871, 30348712, 31160355, 34033220, 35583261, 37685923	Associate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ 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	BEFREE	17426084, 17638058, 18000091, 20008098, 20186503, 20564403, 20578891, 24220341, 25887589, 26054797, 26133772, 28123856, 28755461, 28901486, 29387247, 29675113, 29885843, 30251060, 30387841, 30596336, 30811764, 31230400, 31262968, 31289610		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	10728713, 19898424, 29454754		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	25056374, 29454754, 30838648	Associate	★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	28352668, 30362515		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	30373905	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	16155123, 24528157, 24768803, 26806867, 28000847, 28005221, 28093210, 28181071, 28185818, 28190476, 28421199, 28461162, 28627590, 28902711, 29435803, 29515352, 29588573, 30184529, 30783448, 30925459, 30933849, 31295526, 31301558, 31331066, 31619646, 31811872		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	33504893, 37803093	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	Pubtator	30018674	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	25311989, 29462900		★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	27885243		★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile Neoplasms	CTD_human_DG	18355852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Penile Neoplasms	Penile neoplasm	Pubtator	29902261, 35253909	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peptic Esophagitis	Peptic Esophagitis	BEFREE	28134235		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	27283324		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	28423567, 30471295		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	28423567, 30471295		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	25862915, 29245981		★☆☆☆☆ Found in Text Mining only
Perisylvian syndrome	Perisylvian Syndrome	BEFREE	31056854		★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	26811494, 26925640	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	26701847, 32166754	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	30061744		★☆☆☆☆ Found in Text Mining only
Pharyngeal Neoplasms	Pharyngeal Neoplasms	LHGDN	17990317		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	22692904, 27811202, 30217997		★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	23895135, 30383904		★☆☆☆☆ Found in Text Mining only
PIK3CA related overgrowth spectrum	Overgrowth Spectrum	BEFREE	25557259, 25915946, 26268729, 26593112, 27191687, 27307077, 27426476, 28151489, 28328134, 28525374, 28867506, 29493003, 29549527, 30063105, 30197175, 30270358, 31012097, 31330249, 31361678, 31481664, 31490637, 31568861, 31692258, 31693582, 31752127		★☆☆☆☆ Found in Text Mining only
PIK3CA related overgrowth spectrum	Overgrowth Spectrum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	21113787, 28137267, 30499772		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pituitary Adenoma	Pituitary adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	28445712		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	22782554	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	BEFREE	26562326		★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	30472374, 31715259		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	34410594	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	29615724		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	27613818, 28990055, 29434814, 29660344, 31163591, 31185267		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	19815050		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	19011570		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	24497998, 37452404	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	26818901		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	24888723, 28969385		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	33958329	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	18782444, 21932420		★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	BEFREE	28030367, 31067686		★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	25188413, 31067686		★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	28390196		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	24244612, 28390196, 28777460, 29152059		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	29152059		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	22685175, 24244612, 27018341, 29574283, 30669372		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	16019476, 18385752, 18765521, 18830414, 19406988, 19458356, 20007543, 21807868, 22885370, 23038273, 24952875, 25241901, 25869207, 27151993, 27582570, 28159681, 28716817, 29799846, 30701029, 30896824, 31096997, 31419997		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	29437881, 29444704, 29725001, 30032281, 31009706, 31847241		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	29482551		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	28012196, 29937999		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	29563913, 31031754		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	23382981, 23445613		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	29726995		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	30046527, 31467081, 31786159, 31850164		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	18829572, 29206892	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12642685, 15788644, 16061480, 16328002, 16425184, 16651432, 17551921, 17826033, 18615538, 18942118, 19099539, 19275762, 19443396, 19633975, 19787273, 20019190, 20197460, 20203370, 20407443, 20530556, 20940396, 21113138, 21138868, 21310825, 21575859, 22491797, 22509301, 23434594, 23585456, 23623839, 23765843, 23798432, 24067903, 24163230, 24204196, 24294372, 24339862, 24652480, 24830689, 24831963, 24866151, 24972028, 24983969, 24991009, 25026288, 25120209, 25139413, 25275598, 25636507, 25640606, 25707690, 25799167, 25829425, 26124442, 26143945, 26261538, 26577921, 26986507, 27324222, 27357679, 27375016, 27426307, 27431052, 27470558, 27557496, 27588482, 27821815, 27928955, 27966458, 27995550, 28061438, 28123608, 28212321, 28225015, 28314838, 28319045, 28350865, 28420128, 28422286, 28442344, 28631436, 28676490, 28915623, 28977864, 29133261, 29141866, 29181846, 29316844, 29328471, 29330287, 29453322, 29581176, 29650325, 29730477, 29767248, 29792732, 29963230, 30012673, 30045927, 30112070, 30132513, 30133757, 30139961, 30142541, 30194716, 30208576, 30300679, 30320903, 30333093, 30379590, 30382885, 30483810, 30581390, 30733525, 30813597, 30854108, 30973040, 31016228, 31092266, 31228307, 31296553, 31345230, 31551414, 31726118, 31814446		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	BEFREE	29456672, 30900311		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	19395652		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	16651432, 17551921, 19443396, 20407443, 21062988, 21113138, 23348742, 30133757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881, 29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19443396, 22981675, 23892273, 24352642, 26887047, 30339521, 33247697	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proteus Syndrome	Proteus Syndrome	BEFREE	27890237, 30399177		★☆☆☆☆ Found in Text Mining only
Proteus-Like Syndrome (disorder)	Proteus-Like Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	22840496, 24168180, 27393705, 29432814, 29537306, 30483877, 31229693, 31401494		★☆☆☆☆ Found in Text Mining only
PTEN Hamartoma Tumor Syndrome	PTEN Hamartoma Tumor Syndrome	BEFREE	24366516, 27477328, 27860216, 31501268, 31630434		★☆☆☆☆ Found in Text Mining only
PTEN Hamartoma Tumor Syndrome	PTEN Hamartoma Tumor Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor	Pten Hamartoma Tumor Syndrome With Granular Cell Tumor	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	30243568		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27087006, 29956736, 31841211		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	26617776, 31481045	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	30532529		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23439433, 24276150, 28263743, 28743499, 28900284, 29045477, 29079731, 30542075, 30602677, 31249375, 31502903		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	19903786, 20622004, 22672749, 25023548, 26553611, 29169325		★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	BEFREE	20622004		★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	28341395		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	17362927, 19850877, 30288056, 30840265, 31007884		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16707436, 17468516, 18587247, 22950635, 23086777, 23219378, 23416459, 23900601, 24107265, 24448243, 24767687, 25757764, 25925728, 26559013, 27387559, 27453294, 27844272, 27983909, 28049139, 28114284, 28350788, 29022645, 29148041, 29180899, 29228703, 29389967, 29667779, 29799306, 30327302, 30349421, 30431104, 30465826, 30607788, 30655739, 30774762, 31173226, 31485634, 31545453		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	17468516		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	26447680, 29759484, 30304547, 31032350		★☆☆☆☆ Found in Text Mining only
Resistance to Insulin-Like Growth Factor I	IGF-I RESISTANCE	BEFREE	28193878, 28972999, 30632644		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	29523773		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	31272134		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	34050578	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	26459773		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	16908528, 17604597, 19420344, 20972462, 23071625, 23939377, 25070358, 25371235, 26369631, 26948367, 28042956, 28445155, 28852437, 28901408, 28943916, 29098028, 29517104, 29615601, 29749457, 29790698, 30015924, 30257992, 30320366, 31044388, 31483776, 31541850, 31727502		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	17604597, 32323827	Associate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	26459773, 29862174		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	18641990, 29344246		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	LHGDN	18641990		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor Predisposition Syndrome 1	Rhabdoid tumor predisposition syndrome	Pubtator	17506723	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	10973962, 15342383, 23684925, 23918606, 24133218, 24436047, 24641407, 25637161, 25749378, 26209235, 29437705, 29487419, 30319965, 31524277		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	24641407, 24824843	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	24641407	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	22142829, 27562493	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15642134, 20228199, 22840496, 23001847, 23328930, 24470496, 25760103, 26723864, 26976956, 28090093, 28341395, 28559961, 29652658, 29710540, 30060822, 30229869, 30286793, 30378113, 30402834, 30503342, 30541899, 30639474, 30912120, 30941802, 30954464, 30988781, 31028998, 31203157, 31739383, 31849678		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	26824665		★☆☆☆☆ Found in Text Mining only
Rosette-forming glioneuronal neoplasm	Rosette-Forming Glioneuronal Neoplasm	BEFREE	28131206		★☆☆☆☆ Found in Text Mining only
Rosette-forming glioneuronal neoplasm	Rosette-Forming Glioneuronal Neoplasm	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	29976496		★☆☆☆☆ Found in Text Mining only
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	BEFREE	17003487		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	26247885	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	BEFREE	29224720		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	27564547		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	17496901, 20564403, 22648906, 22779686, 23300809, 24058690, 26479291, 27793898, 29401603, 31638167		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Sarcoma	CTD_human_DG	20601955		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Sarcoma	Pubtator	33503190	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma Ewing	Sarcoma	Pubtator	25119929	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma, Epithelioid	Sarcoma	CTD_human_DG	20601955		★☆☆☆☆ Found in Text Mining only
Sarcoma, Spindle Cell	Sarcoma	CTD_human_DG	20601955		★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	PSYGENET_DG	20691427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	22209534, 22689948, 22771711, 26643470, 26960157, 27122041, 28384043, 31211828		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	15153536		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	28434888	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	29549527, 34887309	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	BEFREE	28551389		★☆☆☆☆ Found in Text Mining only
Seborrheic dermatitis	Seborrheic dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seborrheic keratosis	Seborrheic keratosis	BEFREE	17673550, 18503601, 18728396, 19845664, 21078999, 22188534, 29485181		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seborrheic keratosis	Seborrheic keratosis	UNIPROT_DG	17673550		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seborrheic keratosis	Seborrheic keratosis	LHGDN	18503601		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seborrheic keratosis	Seborrheic keratosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seborrheic keratosis	Seborrheic keratosis	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	19223544, 19366826, 19603024, 20619739, 21129603, 21283802, 21424126, 22039088, 22070922, 22285706, 22638623, 23429431, 23435830, 23494461, 23548132, 23986086, 23996432, 24666267, 24737664, 24755613, 25326806, 25337237, 25491172, 25886136, 27435399, 27590223, 27863403, 27879995, 28068936, 29380640, 30463680, 30519308, 30689692, 31339850, 31771279		★☆☆☆☆ Found in Text Mining only
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Overgrowth Syndrome With Fibroadipose Hyperplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	34102393	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	27104982, 30430771		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	29551659, 31266549		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	20733008, 27252170, 28458167, 29100348, 29956071, 30989579, 31007743, 31570770, 31806860		★☆☆☆☆ Found in Text Mining only
Serous cystadenocarcinoma ovary	Ovarian Serous Cystadenocarcinoma	BEFREE	18574502, 31384176		★☆☆☆☆ Found in Text Mining only
Serous cystadenocarcinoma ovary	Ovarian Serous Cystadenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Serous cystadenoma of ovary	Serous Cystadenoma Of Ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	25133419		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	12393503, 31682844		★☆☆☆☆ Found in Text Mining only
SHORT syndrome	SHORT Syndrome	BEFREE	23810382, 28143957, 28934384, 29724723		★☆☆☆☆ Found in Text Mining only
SHORT syndrome	Short syndrome	Pubtator	28143957	Associate	★☆☆☆☆ Found in Text Mining only
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	BEFREE	27297622		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	18371219, 28453696	Associate	★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	20557351		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	28183632		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	25267489, 30180809, 30506709		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	17673550		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	17673550	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31322006		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	12356726, 15746061, 18757405, 19394761, 23172887, 24240111, 24482365, 25122428, 27101199, 27329168, 27629725, 27845189, 28280736, 28597653, 29290965, 29490947, 29505507, 30429033		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	18757405, 22949056, 24978188, 25122428, 27079212, 27629725, 30550363, 35641209, 36583000, 40345896	Associate	★☆☆☆☆ Found in Text Mining only
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	BEFREE	29179250		★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	BEFREE	30061744		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	31729162		★☆☆☆☆ Found in Text Mining only
Split hand foot deformity 1	Split hand foot deformity	BEFREE	25150293, 25377560		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	20177704		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11358835, 11959846, 12097266, 12375266, 12796399, 15317667, 16380997, 17052259, 17681398, 18097548, 18413757, 18757405, 20045673, 20557351, 21110697, 21216929, 21824802, 22349826, 22629454, 22768234, 23196793, 23228846, 23335533, 23607916, 24248467, 24500884, 24533074, 25220666, 25426553, 25473901, 25691283, 25873175, 25977343, 26030731, 26080840, 26197069, 26216950, 26358014, 26722541, 27007084, 27080983, 27834349, 27845189, 27923688, 28024696, 28194032, 28693263, 28945300, 29186353, 29616118, 29714670, 29848679, 30268457, 30519710, 30568499, 30867805, 30909080, 31213575, 31221127, 31239711, 31251469, 31302247, 31319998, 31638186, 31737114, 31757465, 31759362		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	11959846, 16533766, 16788758, 16930767, 17052259, 17549376		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	24224046		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	12963965, 16788758, 18262558, 18612694, 19212681, 22965424, 23532889, 24360885, 24945674, 25054828, 25099196, 25175594, 25691283, 25839328, 25843419, 26191164, 26334393, 26528858, 26759717, 26823766, 26880326, 27001433, 27095573, 27130665, 27489353, 28068934, 28384037, 28404945, 28418888, 28463955, 28548104, 28867195, 28903408, 29251330, 29399158, 29463194, 29579711, 29581778, 29597090, 29738771, 29864623, 30050135, 30050313, 30119206, 30127937, 30368517, 30508543, 30594787, 30860495, 31001468, 31120582, 31173854, 31217847, 31308693, 31340168, 31463131, 31571914, 31582906, 31810385		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	16533766, 16622441, 17052259, 20557351, 20813562, 21216929, 21631644, 21798893, 21798897, 22994622, 23451093, 23619167, 23803025, 23873848, 24224046, 24278325, 24341335, 24425785, 24511546, 24599934, 25056374, 25234657, 25275298, 25631445, 25855885, 25980437, 26271341, 26614708, 26722541, 26889984, 27329726, 27528217, 27793210, 27889930, 28134774, 28435450, 28637905, 29053175, 29377909, 29700339, 29747488, 30527230, 30548484, 30647454, 30933315, 31090975, 31093971, 31393061, 31427592, 32296588, 32892208, 34072735, 34598035, 35142162, 35546399, 36245368, 36522371, 37004423, 37080394, 37088660, 37340028	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	24158231, 24500884, 25384882, 25813410, 26013318, 26163898, 27835880, 27935865, 28024696, 28177435, 28652248, 29862232, 29891994, 30093452		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	24641191, 25639555, 25724524, 27299186, 27793049, 28243326, 28623128, 28696382, 29238073, 30707166, 31747091		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	11479233, 12375266, 12796399, 15543611, 16533766, 17549376, 17848307, 17912526, 22020886, 22037217, 22065749, 22833868, 22994622, 23451093, 23467835, 23607916, 23619167, 23670291, 23852799, 23873848, 24219320, 24278325, 24425785, 24511546, 24599075, 24696319, 24941990, 25099740, 25193510, 25424851, 25440877, 25977343, 26271341, 26589432, 26832731, 26876212, 26889984, 26895469, 27345413, 27358485, 27507562, 28108737, 28119490, 28131786, 28134774, 28194032, 28637905, 28823407, 28939080, 28945228, 29061642, 29232766, 29598951, 29970482, 30115483, 30468243, 30501041, 30770351, 30858165, 30926065, 30933315, 31235758, 31393061, 31486207, 31574205, 31600013, 31678634		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CTD_human_DG	23873848		★☆☆☆☆ 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
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	31312359, 31620898		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	12796399, 30041677, 31602231, 31638167		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of vulva	Carcinoma Of Vulva	BEFREE	27834349, 29422544		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	30116338, 31654704		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28357399, 28905319, 29724723, 30819264, 31790897		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	26909593		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12569555, 15809724, 16627973, 19013893, 19143835, 20398348, 20937558, 20954287, 21841827, 21990951, 22292935, 22334453, 22543857, 22799764, 22876838, 23058013, 23236232, 23326131, 23661031, 23743572, 23813545, 23960014, 24068565, 24276243, 24458107, 24505629, 24726064, 24837198, 25015565, 25085584, 25400827, 25613482, 25701378, 25727320, 25771729, 25815786, 25882375, 25886409, 25914465, 26107192, 26201869, 26330014, 26334097, 26543351, 26604635, 26701847, 26980034, 27006499, 27121204, 27156070, 27388016, 27470388, 27582428, 27712585, 28260026, 28453696, 28549032, 28550907, 28588255, 28608528, 28671020, 28950928, 29069734, 29106389, 29208564, 29212166, 29215373, 29243780, 29257342, 29278851, 29282102, 29332342, 29374144, 29422964, 29422968, 29450946, 29484141, 29522284, 29700210, 29767248, 29767389, 29802999, 29853970, 29867504, 29872314, 29905413, 29917165, 29949784, 30089248, 30134988, 30138931, 30176223, 30275715, 30302796, 30320337, 30344716, 30349304, 30389134, 30628706, 30632400, 30720166, 30747208, 30793479, 30796154, 30816492, 30952761, 30953349, 31207155, 31243897, 31297980, 31339445, 31352788, 31497207, 31527621, 31692102, 31713929, 31732769, 31737204, 31786865, 31816819, 31819646		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	20398348	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15784156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	15784156, 20398348, 20954287, 21990951, 22292935, 22723903, 23196062, 24597478, 24774510, 25079317, 25882375, 25886409, 26107192, 26213461, 26334097, 26701847, 26811494, 27156070, 28039579, 28453696, 28522256, 28640116, 29704890, 29905413, 30747208, 30837539, 31312661, 31781598, 32020871, 32107691, 32460412, 33457080, 33511732, 33827485, 33933102, 34075207, 34873204, 34916374, 37493631, 38050871	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	22484628		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	BEFREE	26701847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomatitis	Stomatitis	BEFREE	29108713		★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	28030367, 30690033, 31067686		★☆☆☆☆ Found in Text Mining only
Sturge-Weber Syndrome	Sturge-Weber Syndrome	BEFREE	31067686		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	26539501, 28986282, 29771435, 29885663, 30339347, 30935689, 31125530, 31203572, 31590996, 31706751		★☆☆☆☆ Found in Text Mining only
Subcutaneous lipoma	Subcutaneous lipoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	30300578		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	24497998, 26851524		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	24497998, 26851524	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	21128248		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	31829201		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	15153536, 30141531		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	27658642, 29522278, 31359259, 31601188		★☆☆☆☆ Found in Text Mining only
Telangiectasia, Hereditary Hemorrhagic, Type 1	Telangiectasia	BEFREE	31450639		★☆☆☆☆ Found in Text Mining only
Teratoma Ovarian	Ovarian teratoma	Pubtator	39336800	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	24277456, 29410498		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	30870501	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Hydrocele	Testicular Hydrocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracic Neoplasms	Thoracic neoplasm	Pubtator	39560927	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	21890452	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	31490637	Associate	★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	BEFREE	27117832		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	23107319, 23236232, 23592320, 23613505, 24698130, 24888963, 26766736, 27068875, 27876891, 28192408, 28911139		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	24758182, 30193323, 31622470		★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	23185308, 31248021	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	28052655, 28755461, 29214440, 29603332	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	BEFREE	20001715, 23185308, 24908061, 28551845		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	15928251, 16288007, 17317825, 17545635, 17891251, 17989125, 18000091, 18502332, 19638576, 19706758, 19808899, 19907326, 20578891, 21289267, 21878896, 23128507, 23185308, 24098937, 24781864, 26138515, 26265449, 26384552, 26456083, 26472282, 27258970, 27261581, 28042956, 28600475, 28838947, 29055016, 29163356, 29236327, 29272787, 29301825, 29353884, 29695638, 29969438, 30365150, 30699064, 30779728, 31285773, 31289610, 31727500		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	25576899, 30758123, 31235699, 32284020, 33599171	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	15928251, 17426084		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	15928251, 17317825, 17426084, 17545635, 17891251, 17989125, 18502332, 18831514, 19638576, 19706758, 19907326, 20186503, 20578891, 21289267, 21878896, 23128507, 23185308, 24098937, 24136889, 24603332, 24781864, 26265449, 26456083, 26472282, 28042956, 28600475, 29055016, 29163356, 29236327, 29272787, 29301825, 29353884, 29603332, 29969438, 30243708, 30365150, 30699064, 31285773, 31289610, 31727500		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	16288007, 18000091		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	18831514, 19487299, 21289267, 22090271, 23185308, 23979959, 25576899, 31235699, 33539547, 38275291, 39926346	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	30093941, 30906434		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	31484847		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	31484847		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	23107319		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	30180809		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	22538770, 22703543, 22915752, 23973711, 24236784, 24298072, 24318467, 24420152, 24708766, 24779793, 25009009, 25103565, 25296970, 25501949, 25688711, 25721419, 25857298, 26353837, 26540293, 26676751, 26680641, 26857281, 26939876, 27196766, 27367565, 27374081, 27384237, 27402769, 27563827, 27806348, 27893038, 28003307, 28160548, 28486691, 28528184, 28576487, 28766167, 28947417, 29069872, 29156674, 29203461, 29208466, 29228721, 29416611, 29417298, 29472518, 29589138, 29617654, 29675095, 29807833, 29891505, 29924958, 29988465, 29996881, 30092563, 30139837, 30227836, 30266800, 30272286, 30289981, 30344670, 30363988, 30518934, 30564555, 30713576, 31050709, 31101835, 31213851, 31217901, 31254268, 31270600, 31464004, 31480338, 31520748, 31636720, 31703728, 31717320, 31804921, 31812693, 31822498, 31841354		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	22538770, 25056374, 25296970, 25467032, 26051240, 26353837, 26540293, 26680641, 26806567, 26939876, 27915434, 30227836, 30613307, 30813596, 31270600, 31527768, 32019278, 32042320, 32067679, 32404150, 32438621, 32441016, 32504034, 32958578, 33227964, 34396843, 34415239, 34944094, 34997317, 35384527, 35431224, 35450798, 35562750, 36381235, 36626159, 36788078, 36863843, 36870308, 37231433, 37259036, 37980588, 38049758, 38164185	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27806348	Inhibit	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	12773158, 15653324, 16885382, 19177005, 19539245, 19545994, 21191642, 22544507, 25153728, 25277454, 27860216, 28777148		★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	BEFREE	29672222		★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	32620917	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	15784156, 24231454, 27910071		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	37705207	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	29731832, 31210320		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	24451280, 26826416		★☆☆☆☆ Found in Text Mining only
Upper Extremity Deformities Congenital	Upper extremity deformity, congenital	Pubtator	30919936	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	33743689	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21072204, 22895070, 25997541, 26901314, 27611947, 28060766, 28753770, 29353467, 30941989, 31233191, 31393349, 31665050, 32012118, 33400797, 34421886, 34980012, 35317488, 35323317, 36806529, 37477495, 40603329	Associate	★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	38555943	Associate	★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	19843858, 21533174, 22110663, 22430209, 22728270, 23107319, 27465249, 27780919, 28889394		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	15579294		★☆☆☆☆ Found in Text Mining only
Uterine Cancer	Endometrial Cancer	BEFREE	18180098, 21903247, 25698082		★☆☆☆☆ Found in Text Mining only
Uterine Carcinosarcoma	Endometrial Cancer	BEFREE	23896716, 25078343		★☆☆☆☆ Found in Text Mining only
Uterine Carcinosarcoma	Endometrial Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	25220666, 25738363, 29902261	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	26155992		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	21663621, 24037752, 24390348, 25426553, 25669975, 26080840, 26155992, 26358014, 27489350, 27998038, 28036259, 30075505, 30952619, 31350972, 32098697, 32951893, 33127935, 33736612, 34012039, 35038823, 35205332, 36333792, 37469254, 39557107	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	21216929, 22271473	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	27748285, 29113583		★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	21829508	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	22733540, 27881235, 30338785, 30770562, 31394192		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	28804726		★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	29512749		★☆☆☆☆ Found in Text Mining only
Varicocele	Varicocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	30567315		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	38136956	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	24782230, 25557259, 25681199, 27631024, 29549527, 30063105, 30180809, 34074347, 34887309, 35483878, 35526022, 37380669, 37658401, 38136956	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	34887309	Associate	★☆☆☆☆ Found in Text Mining only
Venous malformation	Venous malformation	BEFREE	26637981, 27030595, 29352118, 29786783, 30855339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous malformation	Venous malformation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Malformations Multiple Cutaneous and Mucosal	Venous malformation	Pubtator	26637981, 35094709, 35688571, 37658401, 38367816	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	30487059		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	31095940		★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	BEFREE	28115595		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Verrucous epidermal nevus	Verrucous Epidermal Nevus	BEFREE	24346875		★☆☆☆☆ Found in Text Mining only
Visceral angiomatosis	Visceral angiomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	BEFREE	29534734, 31044535		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	31797544		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	28836394		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	28836394		★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	18474617		★☆☆☆☆ Found in Text Mining only
Waardenburg syndrome type 2	Waardenburg syndrome	Pubtator	36038884	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	25060991		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	30975663		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	29231959	Associate	★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	25133419		★☆☆☆☆ Found in Text Mining only
Xanthomatosis Cerebrotendinous	Xanthomatosis	Pubtator	39557107	Associate	★☆☆☆☆ Found in Text Mining only
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	Xeroderma Pigmentosum	BEFREE	30628719		★☆☆☆☆ Found in Text Mining only