HRAS (HRas proto-oncogene, GTPase)

Gene

• Entrez ID: 3265
• Gene name: HRas proto-oncogene, GTPase
• Gene symbol: HRAS
• Synonyms (NCBI Gene): C-BAS/HAS, C-H-RAS, C-HA-RAS1, CTLO, H-RASIDX, HAMSV, HRAS1, RASH1, p21ras
• Chromosome: 11
• Chromosome location: 11p15.5
• Summary: This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and the

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004471	hsa-let-7a-5p	Luciferase reporter assay	18083101
MIRT005644	hsa-miR-143-3p	Luciferase reporter assay, Northern blot, qRT-PCR	21276449
MIRT005880	hsa-miR-181a-5p	Luciferase reporter assay, qRT-PCR, Western blot	21167132
MIRT005880	hsa-miR-181a-5p	Luciferase reporter assay, qRT-PCR, Western blot	21167132
MIRT004471	hsa-let-7a-5p	Immunoblot, qRT-PCR, Western blot	21252116
MIRT006057	hsa-let-7b-5p	Immunoblot, qRT-PCR, Western blot	21252116
MIRT004471	hsa-let-7a-5p	Immunoblot, qRT-PCR, Western blot	21252116
MIRT006057	hsa-let-7b-5p	Immunoblot, qRT-PCR, Western blot	21252116
MIRT004471	hsa-let-7a-5p	Immunoblot, qRT-PCR, Western blot	21252116
MIRT006057	hsa-let-7b-5p	Immunoblot, qRT-PCR, Western blot	21252116
MIRT006548	hsa-miR-181d-5p	FACS, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22207524
MIRT006548	hsa-miR-181d-5p	FACS, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22207524
MIRT006548	hsa-miR-181d-5p	FACS, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22207524
MIRT006548	hsa-miR-181d-5p	FACS, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22207524
MIRT005880	hsa-miR-181a-5p	Reporter assay	21167132
MIRT040422	hsa-miR-615-3p	CLASH	23622248
MIRT438681	hsa-miR-663a	Luciferase reporter assay, qRT-PCR, Western blot	23953123
MIRT438494	hsa-miR-139-5p	Luciferase reporter assay	24158791
MIRT004471	hsa-let-7a-5p	Luciferase reporter assay	24092860
MIRT438681	hsa-miR-663a	Luciferase reporter assay, qRT-PCR, Western blot	23953123
MIRT438494	hsa-miR-139-5p	Luciferase reporter assay	24158791
MIRT004471	hsa-let-7a-5p	Luciferase reporter assay	24092860
MIRT005644	hsa-miR-143-3p	qRT-PCR, In situ hybridization, Western blot	25477374
MIRT733425	hsa-miR-1184	Immunohistochemistry (IHC), Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR	34234808
MIRT733513	hsa-miR-1200	Microarray	34164896
MIRT1054553	hsa-miR-1207-5p	CLIP-seq
MIRT1054554	hsa-miR-1256	CLIP-seq
MIRT1054555	hsa-miR-1268	CLIP-seq
MIRT1054556	hsa-miR-1321	CLIP-seq
MIRT1054557	hsa-miR-1908	CLIP-seq
MIRT1054558	hsa-miR-1909	CLIP-seq
MIRT1054559	hsa-miR-1972	CLIP-seq
MIRT1054560	hsa-miR-3122	CLIP-seq
MIRT1054561	hsa-miR-3170	CLIP-seq
MIRT1054562	hsa-miR-3180	CLIP-seq
MIRT1054563	hsa-miR-3180-3p	CLIP-seq
MIRT1054564	hsa-miR-3196	CLIP-seq
MIRT1054565	hsa-miR-3913-5p	CLIP-seq
MIRT1054566	hsa-miR-4300	CLIP-seq
MIRT1054567	hsa-miR-4446-3p	CLIP-seq
MIRT1054568	hsa-miR-4492	CLIP-seq
MIRT1054569	hsa-miR-4498	CLIP-seq
MIRT1054570	hsa-miR-4505	CLIP-seq
MIRT1054571	hsa-miR-450b-3p	CLIP-seq
MIRT1054572	hsa-miR-4632	CLIP-seq
MIRT1054573	hsa-miR-4633-3p	CLIP-seq
MIRT1054574	hsa-miR-4664-3p	CLIP-seq
MIRT1054575	hsa-miR-4706	CLIP-seq
MIRT1054576	hsa-miR-4731-5p	CLIP-seq
MIRT1054577	hsa-miR-4739	CLIP-seq
MIRT1054578	hsa-miR-4749-5p	CLIP-seq
MIRT1054579	hsa-miR-4756-5p	CLIP-seq
MIRT1054580	hsa-miR-4763-3p	CLIP-seq
MIRT1054581	hsa-miR-4768-3p	CLIP-seq
MIRT1054582	hsa-miR-485-5p	CLIP-seq
MIRT1054583	hsa-miR-541	CLIP-seq
MIRT1054584	hsa-miR-585	CLIP-seq
MIRT1054585	hsa-miR-610	CLIP-seq
MIRT1054586	hsa-miR-622	CLIP-seq
MIRT1054587	hsa-miR-628-5p	CLIP-seq
MIRT1054588	hsa-miR-663	CLIP-seq
MIRT1054589	hsa-miR-665	CLIP-seq
MIRT1054590	hsa-miR-762	CLIP-seq
MIRT1054591	hsa-miR-769-3p	CLIP-seq
MIRT1054592	hsa-miR-920	CLIP-seq
MIRT1054593	hsa-miR-939	CLIP-seq
MIRT1054594	hsa-miR-3074-5p	CLIP-seq
MIRT1054595	hsa-miR-3130-3p	CLIP-seq
MIRT1054596	hsa-miR-324-5p	CLIP-seq
MIRT1054597	hsa-miR-3667-3p	CLIP-seq
MIRT1054598	hsa-miR-4324	CLIP-seq
MIRT1054599	hsa-miR-4691-5p	CLIP-seq
MIRT1054600	hsa-miR-4716-5p	CLIP-seq
MIRT1054601	hsa-miR-4793-3p	CLIP-seq
MIRT1054602	hsa-miR-544b	CLIP-seq
MIRT1054554	hsa-miR-1256	CLIP-seq
MIRT1054561	hsa-miR-3170	CLIP-seq
MIRT2244707	hsa-miR-3192	CLIP-seq
MIRT2244708	hsa-miR-3689a-3p	CLIP-seq
MIRT2244709	hsa-miR-3689c	CLIP-seq
MIRT1054566	hsa-miR-4300	CLIP-seq
MIRT2244710	hsa-miR-4308	CLIP-seq
MIRT1054567	hsa-miR-4446-3p	CLIP-seq
MIRT1054568	hsa-miR-4492	CLIP-seq
MIRT1054569	hsa-miR-4498	CLIP-seq
MIRT1054570	hsa-miR-4505	CLIP-seq
MIRT1054573	hsa-miR-4633-3p	CLIP-seq
MIRT1054574	hsa-miR-4664-3p	CLIP-seq
MIRT2244711	hsa-miR-4728-5p	CLIP-seq
MIRT1054576	hsa-miR-4731-5p	CLIP-seq
MIRT1054585	hsa-miR-610	CLIP-seq
MIRT2244712	hsa-miR-661	CLIP-seq
MIRT1054590	hsa-miR-762	CLIP-seq
MIRT1054592	hsa-miR-920	CLIP-seq
MIRT1054593	hsa-miR-939	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BTG2	Repression	20197462
MAZ	Activation	21931711
SP1	Activation	21931711
SP1	Unknown	3012774
TP53	Unknown	11127813

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0000165	Process	MAPK cascade	IEA
GO:0000165	Process	MAPK cascade	TAS
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	9178006
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	IMP	9230043
GO:0003924	Function	GTPase activity	TAS
GO:0003925	Function	G protein activity	IEA
GO:0005515	Function	Protein binding	IPI	2122974, 8332187, 8670882, 9144171, 9219684, 9447984, 9488663, 9690470, 10369681, 10608844, 11022048, 11335720, 11598133, 11857081, 11980706, 12620389, 12628188, 14500341, 14724641, 15507210, 15886098, 16316996, 16698549, 16810318, 17084389, 17540175, 18073111, 18273062, 18454158, 18
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IDA	14500341, 17260967
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	IMP	9230043
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	10842192
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IDA	14500341, 21968647
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	14500341, 17724343, 21968647
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9020890, 9880516
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	23027131
GO:0006897	Process	Endocytosis	IEA
GO:0006935	Process	Chemotaxis	TAS	10848592
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	NAS	8607982
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	9020890
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	IBA
GO:0007265	Process	Ras protein signal transduction	IDA	23027131
GO:0007265	Process	Ras protein signal transduction	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	9765203
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	9054499
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	10848592
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IDA	23027131
GO:0014044	Process	Schwann cell development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019003	Function	GDP binding	IBA
GO:0019003	Function	GDP binding	IMP	8142349, 9230043
GO:0030335	Process	Positive regulation of cell migration	IDA	23027131
GO:0032729	Process	Positive regulation of type II interferon production	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IDA	23027131
GO:0036064	Component	Ciliary basal body	IDA
GO:0042088	Process	T-helper 1 type immune response	IEA
GO:0042127	Process	Regulation of cell population proliferation	IDA	9054499
GO:0042552	Process	Myelination	IEA
GO:0042832	Process	Defense response to protozoan	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	9765203, 23027131
GO:0043495	Function	Protein-membrane adaptor activity	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	22065586, 23027131
GO:0046330	Process	Positive regulation of JNK cascade	IDA	22065586
GO:0048144	Process	Fibroblast proliferation	IEA
GO:0048146	Process	Positive regulation of fibroblast proliferation	IEA
GO:0048169	Process	Regulation of long-term neuronal synaptic plasticity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IMP	20154697
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051726	Process	Regulation of cell cycle	IDA	9054499
GO:0060612	Process	Adipose tissue development	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	22065586
GO:0071480	Process	Cellular response to gamma radiation	IDA	16213212
GO:0090303	Process	Positive regulation of wound healing	IDA	23027131
GO:0090314	Process	Positive regulation of protein targeting to membrane	IMP	11022048
GO:0090398	Process	Cellular senescence	IBA
GO:0090398	Process	Cellular senescence	IDA	9054499
GO:0090398	Process	Cellular senescence	IEA
GO:0090402	Process	Oncogene-induced cell senescence	IEA
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IEA
GO:0098696	Process	Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IDA	12202034
GO:0098696	Process	Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IMP	12202034
GO:0098978	Component	Glutamatergic synapse	IDA	12202034
GO:0098978	Component	Glutamatergic synapse	IMP	12202034
GO:0160185	Function	Phospholipase C activator activity	IDA	11022048
GO:1900029	Process	Positive regulation of ruffle assembly	IDA	23027131
GO:1905360	Component	GTPase complex	IPI	25695162
GO:2000630	Process	Positive regulation of miRNA metabolic process	IDA	23027131

Other IDs

• MIM: 190020
• HGNC: 5173
• e!Ensembl: ENSG00000174775

Protein

• UniProt ID: P01112
• Protein name: GTPase HRas (EC 3.6.5.2) (H-Ras-1) (Ha-Ras) (Transforming protein p21) (c-H-ras) (p21ras) [Cleaved into: GTPase HRas, N-terminally processed]
• Protein function: Involved in the activation of Ras protein signal transduction (PubMed:22821884). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:12740440, PubMed:14500341, PubMed:9020151). {ECO:0000269|PubMed:12740440, ECO:0000269|PubMed
• PDB: 121P, 1AA9, 1AGP, 1BKD, 1CLU, 1CRP, 1CRQ, 1CRR, 1CTQ, 1GNP, 1GNQ, 1GNR, 1HE8, 1IAQ, 1IOZ, 1JAH, 1JAI, 1K8R, 1LF0, 1LF5, 1LFD, 1NVU, 1NVV, 1NVW, 1NVX, 1P2S, 1P2T, 1P2U, 1P2V, 1PLJ, 1PLK, 1PLL, 1Q21, 1QRA, 1RVD, 1WQ1, 1XCM, 1XD2, 1XJ0, 1ZVQ, 1ZW6, 221P, 2C5L, 2CE2, 2CL0, 2CL6, 2CL7, 2CLC, 2CLD, 2EVW, 2LCF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00071	Ras	5 → 165	Ras family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:14500341}.
• Sequence:

  MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAG
  QEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDL
  AARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPG
  CMSCKCVLS

• Sequence length: 189

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
Alveolar rhabdomyosarcoma	Likely pathogenic; Pathogenic	rs104894228	RCV006253693	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arteriovenous malformation	Pathogenic	rs1589792836	RCV000860022	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast phyllodes tumor	Likely pathogenic; Pathogenic	rs104894228	RCV006253695	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic	rs104894230, rs104894229	RCV004018622 RCV002453256	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Costello syndrome	Likely pathogenic; Pathogenic	rs587777239, rs764755556, rs2133982557, rs2133990973, rs727504747, rs727503094, rs104894226, rs104894230, rs104894229, rs104894227, rs104894228, rs104894231, rs121917756, rs121917757, rs121917758, rs121917759, rs730880460, rs398122808, rs398122809, rs1554884966, rs727503093, rs1589792804	RCV000106320 RCV001775533 RCV001789705 RCV001974222 RCV000156047 RCV000150836 RCV000590121 RCV000013432 RCV000013435 RCV000013437 RCV000013438 RCV000013439 RCV000013440 RCV000013441 RCV002272015 RCV000143898 RCV000013444 RCV000013445 RCV000013447 RCV002230756 RCV002524694 RCV005090865 RCV000022797 RCV000022798 RCV001781319 RCV000546898 RCV000150835 RCV001387769 RCV001732216 RCV000818197	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
cutaneous-skeletal hypophosphatemia syndrome	Likely pathogenic; Pathogenic	rs104894228	RCV001849283	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectomesenchymoma	Likely pathogenic; Pathogenic	rs104894228	RCV006253696	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Embryonal rhabdomyosarcoma	Likely pathogenic; Pathogenic	rs28933406, rs104894229, rs104894226, rs104894228	RCV006253535 RCV006253536 RCV006253537 RCV006253539 RCV006253694	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermal nevus	Pathogenic; Likely pathogenic	rs104894230, rs28933406, rs104894229, rs104894228	RCV000032850 RCV004562206 RCV003450636 RCV000032851 RCV000032852	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC	Pathogenic	rs104894229	RCV000022796	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial medullary thyroid carcinoma	Likely pathogenic; Pathogenic	rs28933406	RCV006253533	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HRAS-related disorder	Pathogenic; Likely pathogenic	rs104894230, rs104894229, rs104894226, rs104894228, rs121917757, rs121917758, rs2539797550	RCV003415692 RCV003398496 RCV003390677 RCV003421918 RCV005867747 RCV004724738 RCV003400256 RCV004739310	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KA-like vemurafenib-induced squamous lesions	Likely pathogenic; Pathogenic	rs104894226	RCV001849323	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Large congenital melanocytic nevus	Likely pathogenic; Pathogenic	rs104894226	RCV004562310	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Linear nevus sebaceous syndrome	Likely pathogenic; Pathogenic	rs121913233, rs104894226, rs104894228	RCV000148033 RCV004767097 RCV004767004 RCV000029213	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lip and oral cavity carcinoma	Likely pathogenic; Pathogenic	rs104894226, rs28933406, rs104894229, rs104894228	RCV001255688 RCV001255683 RCV001255689 RCV001255682	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic; Likely pathogenic	rs104894230, rs104894226	RCV000013431 RCV005887484	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs104894226	RCV005887485	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, congenital, with excess of muscle spindles	Pathogenic; Likely pathogenic	rs104894230, rs104894229, rs121917756, rs121917757	RCV000013433 RCV000013436 RCV000013442 RCV000013443	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs121913233, rs104894226	RCV006273567 RCV006273570	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma	Likely pathogenic; Pathogenic	rs121913233, rs28933406	RCV006253831 RCV006253534	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nevus sebaceous	Pathogenic; Likely pathogenic	rs104894229, rs104894228	RCV000029209 RCV000029211 RCV000029212	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEVUS SPILUS, SOMATIC	Likely pathogenic; Pathogenic	rs104894228	RCV000173005	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-immune hydrops fetalis	Likely pathogenic; Pathogenic	rs104894226, rs104894228	RCV001376018 RCV001376004	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-small cell lung carcinoma	Likely pathogenic	rs727503093	RCV000150834	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome	Pathogenic	rs104894228	RCV000678903	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome 1	Pathogenic	rs104894229	RCV003450635	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome 3	Likely pathogenic; Pathogenic	rs28933406, rs121913496	RCV000587258 RCV000589258	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome and Noonan-related syndrome	Likely pathogenic; Pathogenic	rs121913233, rs104894229, rs104894230, rs104894226, rs104894228	RCV001813393 RCV001813185 RCV001813186 RCV001813187 RCV001813188 RCV001813211	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RASopathy	Pathogenic; Likely pathogenic	rs2133991112, rs104894229, rs104894226, rs104894227, rs104894228, rs121917758, rs727503093	RCV003238902 RCV000149828 RCV000781469 RCV005252033 RCV000149831 RCV005252034 RCV000149829 RCV004760350	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhabdomyosarcoma	Likely pathogenic; Pathogenic	rs104894226, rs104894229, rs104894230, rs104894228	RCV006253847 RCV001257537 RCV001257536 RCV006253538	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Salivary gland neoplasm	Likely pathogenic	rs121913233	RCV001844808	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatocytic seminoma	Likely pathogenic; Pathogenic	rs28933406	RCV000022795	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPITZ NEVUS, SOMATIC	Likely pathogenic; Pathogenic	rs104894228	RCV000173006	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 2	Likely pathogenic; Pathogenic	rs28933406	RCV000013434	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vascular malformation	Likely pathogenic	rs2133990580, rs2539797407	RCV005863672 RCV004566498	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vascular Tumors Including Pyogenic Granuloma	Likely pathogenic	rs121913233, rs104894228	RCV000662268 RCV000662270	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wooly hair nevus	Pathogenic	rs104894229	RCV000487471	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE CHRONIC HEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE HEPATITIS WITH CENTRILOBULAR NECROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER CANCER	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, TRANSITIONAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIO-FACIO-CUTANEOUS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOFACIOCUTANEOUS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ARTERIOVENOUS MALFORMATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolytic nevus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMANGIOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypophosphatemic rickets	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOCYTIC NEVUS SYNDROME, CONGENITAL	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAPILLOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parathyroid gland adenoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENILE NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer, hereditary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonic stenosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Soft tissue sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLENIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Supravalvar aortic stenosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER, FOLLICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONGUE NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR NEVUS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	Pubtator	30355600	Associate	★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	17488404, 19849697, 9778107		★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	LHGDN	17488404		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	22241506		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	26855057		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10862042, 12527710, 12606951, 12696070, 1310887, 1333425, 14511407, 14581353, 14724583, 15597105, 16598499, 1685441, 18075308, 2404591, 2659539, 2674856, 2801838, 29076877, 6187346, 7766307, 7902444, 7903667, 7910096, 7960232, 8157353, 8190717, 8508351, 8519418, 8814697, 8853037, 9234384, 9460997, 9924427		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	16268414, 16774944		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	2887194		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	28259994, 8508351, 8685214		★☆☆☆☆ 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	10720740, 11016621, 12117776, 14511407, 20855837, 2196110, 27151654, 7928625, 9234384, 9364000, 9645349		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	26558449		★☆☆☆☆ 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	18075308, 8154963		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11241408, 1333425, 14629748, 17039270, 1708754, 17105421, 17122504, 21443421, 22496620, 7698570, 8389270, 8471756, 8508377, 9361177, 9724079, 9924427		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	15623940, 1708754, 7698570, 8625092, 9361177, 9586664		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	1333425, 3021699		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	2839410, 3275489		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	26773571, 29159601, 31307198		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	2564050		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26855057		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	CLINVAR_DG	16170316		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alveolar capillary dysplasia	Alveolar capillary dysplasia	Pubtator	22495892	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	30216733, 34034548	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	30741938, 31041834		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	8185828		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	30191474		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	32444772	Associate	★☆☆☆☆ Found in Text Mining only
Angiofibroma	Angiofibroma	BEFREE	10511729		★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	BEFREE	3037545, 6312328		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27121414, 28067794		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29032022		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29032022		★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita with Epibulbar Dermoids	Aplasia cutis congenita with epibulbar dermoids	Pubtator	30891959	Associate	★☆☆☆☆ 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
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	31637524	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	28455154		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	27834733, 9419966		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	27834733, 39459475	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atypical Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	11746970		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	36750796	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25367099		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	7485261, 8098541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	8098541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	9195373		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	1984840		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	20927195	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	2557232		★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	2839410, 2905880, 3275489		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	2668964		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of bladder	Benign Neoplasm Of Bladder	CGI_DG			★☆☆☆☆ Found in Text Mining only
Benign neoplasm of brain, unspecified	Brain Neoplasms	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Bile Duct Diseases	Bile duct disease	Pubtator	36480093	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	1973904, 2881210		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10767358, 10995035, 12115522, 12124355, 14737103, 16338065, 17256055, 21514184, 22707223, 24169525, 2889677, 2892780, 29901113, 3409229, 6304875, 8352563, 8583569		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	15958052, 2228319, 2278634		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	18534064	Associate	★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	3059070		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	24006476	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	24243633		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	23199169	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	8101872		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	11753967, 25644510		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	LHGDN	18021740		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain neoplasms	Pubtator	20604919	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	CTD_human_DG	27935819		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Tumor, Primary	Brain Neoplasms	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	8642043		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	2668204		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10464642, 10521493, 10601382, 10629074, 14693748, 15618232, 19129555, 1993553, 21221763, 2188722, 2406196, 2564734, 2573420, 2668204, 27165221, 3066395, 3293644, 3298786, 3330777, 3462411, 3524819, 7547224, 7612910, 7671254, 7794075, 8003818, 8385520, 8416194, 8541881, 8589723, 8987214, 9255581, 9949211		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	12165863, 15958052, 17474063, 19652463		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast Diseases	BEFREE	3058913		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10393527, 14535590, 20169162, 21403836, 24000146, 25155634, 25449683, 2564734, 25927147, 27108388, 27165221, 27512948, 29739933, 33247707, 34779146, 39218304, 8529465	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchomalacia	Bronchomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	1486864, 1679760, 17549669, 18077377, 20736745, 24000146, 24259709, 32516567	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22589270	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10358073, 10454586, 10569807, 10767358, 11746970, 11754204, 12759452, 12782759, 1310887, 1326470, 1333425, 1427748, 14507635, 14662018, 1520342, 15958052, 1685441, 1698442, 1708754, 1854618, 1868471, 19837916, 20150643, 2040536, 21443421, 2247480, 23380875, 2453289, 25795707, 26053092, 27379604, 29443014, 3058913, 3089984, 30994537, 3298786, 3524819, 3554234, 6187346, 7665812, 8003818, 8471756, 8625092, 8651173, 8814697, 8847140, 9033644, 9142390, 9361177, 9418856, 9724079		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	Pubtator	32197944	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	CTD_human_DG	8185828		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	23398044	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	2179417, 23435205	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	10374765, 27108388, 30813596	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11819786, 22190283, 30685691	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of bladder	Bladder carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	12878090, 9762942		★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	31989433	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	26238782, 34593967, 36602798	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	10835516	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10856967, 10995035, 11522622, 12115522, 1521228, 16338065, 1773788, 1861862, 21514184, 21931711, 22707223, 24169525, 26254261, 2643097, 2889677, 2892780, 2987950, 29901113, 3057152, 3409229, 3474107, 3523486, 3856854, 6298635, 6304875, 8352563, 8583569, 8642043		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10430091, 10697610, 10720740, 11016621, 11097227, 11439401, 12606951, 1310887, 15014984, 1910603, 19723643, 1979305, 2407346, 25180641, 3011049, 30796510, 3287150, 3319559, 3915535, 6866079, 7692947, 7927918, 8967717, 9115960, 9149890, 9255581, 9364000		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24407244	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21411223, 22067401, 23457002, 25072932, 26479420, 29980281, 30446465, 36853323, 39694330	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	1619852	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	19849697, 2064725, 2690853, 7916998, 8426854		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	11553860		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10667571, 1351862, 2917352, 30426508		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	8185828		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	8853037		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	6089200	Associate	★☆☆☆☆ Found in Text Mining only
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	BEFREE	16372351, 17054105, 17211612, 17324647, 17551924, 21784453, 26855057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CTD_human_DG	17703371		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CLINGEN_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiofaciocutaneous syndrome	Cardiofaciocutaneous syndrome	Pubtator	33482860	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathies, Primary	Cardiomyopathy	CLINVAR_DG	16170316		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	32499600, 33568805	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	25914166	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ceroid lipofuscinosis, neuronal 1, infantile	Neuronal ceroid lipofuscinosis	BEFREE	30516377		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	15950068, 2541388, 28440909, 3060795		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	12878090, 8108139, 9762942		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	LHGDN	12878090		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	15950068, 28440909, 9291819		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	26855057		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	11605068		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	12189555		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	1984840		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Classical Lissencephalies and Subcortical Band Heterotopias	Lissencephaly	Pubtator	27108388	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	19371735, 22488832	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11724366, 1399125, 16448675, 16534842, 20949557, 24519534, 2648401, 2994902, 3021699, 3040597, 7769122, 8494794, 8554149, 8577718, 9433483		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	19107228		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	20622004, 21088106, 21213373, 3885218, 9388239		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	22618666, 2876925, 8306368	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	28259994	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	3885218	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10398103, 10873061, 11724366, 11754204, 12433710, 12477769, 12592366, 12696070, 12697967, 12908779, 1373678, 15069679, 15235871, 1685466, 1708754, 17177160, 17693665, 19956069, 2180571, 24890702, 27394063, 28259994, 28593995, 2896015, 30419845, 30559287, 7620111, 7698697, 7763005, 8012953, 8336750, 8419262, 8489386, 8515492, 8608570, 8649851, 8993798		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10732765, 11055588, 11471902, 17460778, 21152119, 28259994, 28593995, 28675510, 28678173, 30637914, 31427573, 31782259, 35648774, 36982429, 3885218, 8306368	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	11109558, 11370830, 12908779, 1373678, 19956069, 20660995, 3885218, 7698570, 8625092, 9606421		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15816642, 16174078, 16356174, 16760302, 18296105, 18621636, 18676755		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	16478791, 25157968, 26619011		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	25677562		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	31637524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	1521228, 3287150, 3943049, 8099316, 9666803		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital genu recurvatum	Congenital genu recurvatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hemihypertrophy	Congenital Hemihypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	26572961		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	26572961	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	40104288	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypotrichia	Congenital Hypotrichia	BEFREE	25677562		★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	25070542		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	25914166		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CLINVAR_DG	16170316, 16329078, 16372351, 16443854, 16881968, 16969868, 17054105, 18039947, 19206176		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31534544		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Costello Syndrome	Costello syndrome	Pubtator	16443854, 17412879, 17483702, 17517660, 19206176, 19371735, 19382114, 19919001, 21438134, 21834037, 21880723, 22098123, 22488832, 22495892, 23918324, 24169525, 24259709, 24668879, 25133308, 25387514, 25914166, 26572961, 27102959, 27195699, 27589201, 28371260, 28594414, 30355600, 31222966, 31560489, 32499600, 33372952, 33482860, 35764878, 37194190, 37488489, 38415356	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Costello syndrome	Costello Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Costello syndrome (disorder)	Costello syndrome	CLINVAR_DG	10716188, 16170316, 16329078, 16372351, 16443854, 16474405, 16835863, 16881968, 16921267, 16969868, 17054105, 17211612, 17412879, 17979197, 18039947, 18042262, 18247425, 18642361, 18978862, 19206176, 19371735, 19382114, 19669404, 20112233, 20658932, 20660566, 20949621, 20979192, 2105486, 21344638, 21438134, 21779495, 21834037, 21850009, 22317973, 22488832, 22926243, 23093928, 23321623, 23751039, 24169525, 24224811, 25668678, 2674130, 27195699, 27589201, 28027064, 29493581, 3004741, 3283542, 3304147, 6287572, 6287573, 6288698		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	BEFREE	16170316, 16329078, 16372351, 16443854, 16575889, 16825433, 16835863, 16881968, 16969868, 17054105, 17164262, 17211612, 17250658, 17324647, 17366577, 17483702, 17517660, 17551924, 17567882, 17704260, 17726614, 17979197, 18025929, 18039947, 18042262, 18247425, 19035362, 19206176, 19213030, 19919001, 19995790, 20425820, 20658932, 20979192, 21438134, 21495179, 21633259, 21784453, 21834037, 21850009, 22098123, 22261753, 22317973, 22488832, 22495892, 22887473, 22926243, 23250860, 23335589, 24057668, 24169525, 24259709, 25367099, 25668678, 25677562, 25914166, 25947161, 26419841, 26572961, 26855057, 26888048, 27102959, 27195699, 27589201, 27705751, 28139825, 28328122, 28337834, 28371260, 28455154, 28455524, 28594414, 28856719, 29254681, 30885829, 30937994, 31222966, 31680412		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	UNIPROT_DG	16170316, 16329078, 16443854, 17054105, 17412879, 18039947, 18247425, 19995790		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	GENOMICS_ENGLAND_DG	16170316, 16969868, 17412879, 21396583, 22926243, 23875798, 24006476, 28425981		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	CTD_human_DG	17468812, 17703371, 19132118		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	CLINGEN_DG	17979197, 19035362, 19995790, 21850009, 22495892, 22821884, 23335589, 23875798, 24057668, 25367099, 25677562, 25914166, 26888048		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	1685466		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	23174022, 29349077		★☆☆☆☆ 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
Cutaneous Melanoma	Melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	20979192		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	19371735, 21438134, 22495892, 35764878	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	25947161		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	10433077	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	10433077	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10433077, 1978827, 3014147		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10433077		★☆☆☆☆ Found in Text Mining only
Differentiated thyroid carcinoma	Thyroid Carcinoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	2208148		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	2208148		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	17601930		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	34589056	Associate	★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	14755455		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	28328122		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	37194190	Associate	★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	33568805	Associate	★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	17164262, 26872011, 27589201, 8483882		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	7856567, 8105795, 8385572, 8600078		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11746970, 15118616, 7577718, 9421075, 9921983		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	16681770	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	18425390		★☆☆☆☆ Found in Text Mining only
Epidermal Nevus	Epidermal nevus	Pubtator	28434888, 30791119	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC	EPIDERMAL NEVUS WITH UROTHELIAL CANCER	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epithelial ovarian cancer	Ovarian cancer	BEFREE	10667571, 1351862		★☆☆☆☆ Found in Text Mining only
Epithelioid and spindle cell nevus	Spitz nevus	BEFREE	19438459, 20871217, 23599145		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	1351862		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	1520342, 26544513, 8519418		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	26544513, 8519418		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	32026292	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	9619634		★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	7830335		★☆☆☆☆ Found in Text Mining only
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	BEFREE	30994537		★☆☆☆☆ Found in Text Mining only
Facial wart	Facial Wart	CLINVAR_DG	16170316		★☆☆☆☆ Found in Text Mining only
Familial Atypical Mole Melanoma Syndrome	Atypical Mole Melanoma Syndrome	BEFREE	2879249, 2879551		★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	26059403		★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	BEFREE	24828033		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Female Pseudo-Turner Syndrome	Noonan syndrome	CTD_human_DG	17703371		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	7997802		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	16372351, 2643097, 3856854, 8302597		★☆☆☆☆ Found in Text Mining only
Fibrous skin tumor of tuberous sclerosis	Adenoma sebaceum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	25487739, 29669480, 9724079		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	17660800, 25487739, 28621837		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	18783589	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	27469332	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	1829952, 1964583		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	7912645	Associate	★☆☆☆☆ Found in Text Mining only
GIANT PIGMENTED HAIRY NEVUS	Large congenital melanocytic nevus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
GIANT PIGMENTED HAIRY NEVUS	Large congenital melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
GIANT PIGMENTED HAIRY NEVUS	Large congenital melanocytic nevus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gingival Diseases	Gingival diseases	Pubtator	31743516	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	17210246		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	17210246, 21649900, 24997477, 32296843	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24997477, 3828971		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25277177	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24997477, 3828971		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11303621, 27834733		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	27834733	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CTD_human_DG	30619488		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	CLINVAR_DG	16170316		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	16575889, 28390077		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	10805155		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis, Membranoproliferative	Glomerulonephritis	BEFREE	14551355		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	17517660, 21438134	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	10511729, 21120662, 24696319, 2568483		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	1698442, 23398044, 40243851	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	CTD_human_DG	10930038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangiosarcoma	Hemangiosarcoma	LHGDN	18465119		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangiosarcoma	Hemangiosarcoma	BEFREE	26440310, 7928625, 9010458, 9715515		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangiosarcoma	Hemangiosarcoma	Pubtator	26440310, 31805975, 33016928	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematological Disease	Hematological Disease	BEFREE	3943049		★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	12668284, 9715515		★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	CTD_human_DG	8200073		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	14535590, 29739933, 30394935, 31887226, 34496925	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	8589723		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	11397402, 26558449		★☆☆☆☆ Found in Text Mining only
Hereditary Melanoma	Hereditary cutaneous melanoma	BEFREE	2573274, 2879249, 2879551		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	8690195, 8978340		★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	28713902	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	CLINVAR_DG	16170316, 16329078, 16372351, 16443854, 16881968, 16969868, 17054105, 18039947, 19206176		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	35397126	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	BEFREE	26572961		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	10746633		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	14962108		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	9509445		★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	BEFREE	21633259		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG	16170316, 16329078, 16372351, 16443854, 16881968, 16969868, 17054105, 18039947, 19206176		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	26888048, 28139825		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	26888048, 28139825		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets	Hypophosphatemic Rickets	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	8901575		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	BEFREE	25677562		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	26181205	Stimulate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	24341474		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	20150643		★☆☆☆☆ Found in Text Mining only
Ileus	Ileus	BEFREE	20888703		★☆☆☆☆ Found in Text Mining only
Infantile neuronal ceroid lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	30516377		★☆☆☆☆ Found in Text Mining only
Inflammatory linear verrucous epidermal nevus	Inflammatory Linear Verrucous Epidermal Nevus	CTD_human_DG	22683711		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	19371735, 19382114, 25914166	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	25914166, 6312328		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	12673679	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	31637524	Associate	★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	14724583, 28259994		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	7830335		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	CLINVAR_DG	16170316, 16329078, 16372351, 16443854, 16881968, 16969868, 17054105, 18039947, 19206176		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	17268534, 17332249		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	BEFREE	14962108		★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	Pubtator	26319365	Associate	★☆☆☆☆ Found in Text Mining only
Keratosis Seborrheic	Seborrheic keratosis	Pubtator	21078999	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	21808062, 21886838	Associate	★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	BEFREE	2842776		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	8198992, 9119742	Associate	★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	10574596		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	25914166	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	28002430		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	Leopard syndrome	Pubtator	17517660	Associate	★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	BEFREE	21784453		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	1670614, 2713271, 2888656, 3059070, 3520570		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15951308, 18931459, 3122217	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	14732923, 1670614, 19075190, 1967953, 2183888, 2713271, 3122217, 3288815, 3315181		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	16434492, 16923573		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	17050076, 19075190, 3059070		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	37488489	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	20888703		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	10574596		★☆☆☆☆ Found in Text Mining only
Linear nevus sebaceus syndrome	Epidermal nevus syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Linear Verrucous Epidermal Nevus	Linear Verrucous Epidermal Nevus	CTD_human_DG	22683711		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	1679760, 7901404		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Liver carcinoma	Liver carcinoma	BEFREE	10767618, 11286481, 11563603, 16246194, 1846346, 29423069, 3005205, 3030308, 30655611, 30685691, 9195373, 9715515		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	20118494, 27517622, 28284560, 8200073, 9311599		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	10874023, 12082015, 12127263, 16410370, 17514646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	BEFREE	15592514, 15917304, 15965925, 16410370, 3030308, 8766521, 9715515		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Neoplasms	Liver neoplasm	Pubtator	3904802	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT Syndrome	Long QT Syndrome	BEFREE	1673802, 1746560, 7927330, 7977384, 7994803, 8102381		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	1746560, 7977384	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	10779650, 11016621, 14583591, 15026325, 16410370, 19107609, 20205516, 3002619		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	10779650, 11307925, 11552296, 12765245, 15902970		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	1362538, 1486864, 34338241, 36853323, 8263009	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12367560, 30297329		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	1698442	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	12393503, 3554234	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	2841224, 8104094		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	27102345		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	2526666		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	2526666		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	22488832		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	19371735	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Malformation of cortical development	CTD_human_DG	27935819		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	10474683, 10812008, 8483882		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG	30619488		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	10511729, 21120662, 24696319		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10464642, 10521493, 10601382, 10629074, 14693748, 15618232, 19129555, 1993553, 21221763, 2406196, 2564734, 2668204, 27165221, 29739933, 3066395, 3293644, 3462411, 7547224, 7612910, 7794075, 8385520, 8541881, 8585979, 8589723, 8987214, 9255581, 9563885, 9949211		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	12165863, 15958052, 17474063, 19652463		★☆☆☆☆ 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	7577718		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	26544513, 8519418		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	10873061, 2404571		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	2108944		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	10874023, 12082015, 12127263, 16410370, 17514646		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	15592514		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10430091, 10697610, 10720740, 11016621, 11097227, 11439401, 12606951, 1310887, 15014984, 1910603, 19723643, 1979305, 2407346, 25180641, 3011049, 30796510, 3319559, 7692947, 8967717, 9115960, 9149890, 9255581, 9364000, 9816274		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	10779650, 11307925, 11552296, 12765245, 15902970		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	1679760, 17693665, 7901404		★☆☆☆☆ 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 ovary	Ovarian cancer	BEFREE	10667571, 1351862, 2917352, 30426508		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	10873061, 11677475, 12189555, 12409332, 15782177, 15846069, 1741644, 18075308, 19064568, 19208745, 20232877, 2110130, 23393682, 2507485, 2565762, 28607485, 29977235, 31227505, 3932275, 8063617, 8157353, 8536860		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of penis	Penile cancer	BEFREE	18355852		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of penis	Penile cancer	CTD_human_DG	18355852		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10850453		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	15958052, 18758463, 24898257, 26558449, 8330346, 8508502, 9766437		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	1945413, 2064725, 2647332, 2690853, 3370635		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of spleen	Malignant Neoplasm Of Spleen	CTD_human_DG	26558449		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	11397402, 26558449		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	1524724, 2179035, 2743265, 8412172		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	1980342, 23150177, 26259532, 29760048, 9724079		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	CTD_human_DG	20043093		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10995035, 12115522, 16338065, 21514184, 21931711, 22707223, 24169525, 2889677, 2892780, 29901113, 3409229, 6304875, 8352563, 8583569		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	15958052, 2228319, 2278634		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10569807, 10601382, 10873061, 10940271, 11097227, 11677475, 12115522, 12470840, 14534744, 1483428, 15118760, 1568246, 16372351, 16598499, 1670614, 16818665, 1686883, 16969076, 1714343, 17177160, 19787260, 1980342, 19815696, 20169162, 2040536, 20878133, 21514184, 21622730, 21791238, 21798893, 21931711, 22707223, 23150177, 24240680, 24259709, 24696319, 2526666, 2553252, 2568483, 25805818, 2581495, 26544513, 26572961, 2668204, 26780944, 27195699, 27352265, 27834948, 27863786, 28371260, 2841224, 2879249, 2879551, 28799801, 2887194, 2889677, 2892780, 2902823, 2905174, 2905880, 3011817, 30401712, 3057152, 30787043, 30796510, 31222966, 3276397, 3288815, 3352917, 3462411, 3554234, 3587348, 6304875, 7698697, 7901404, 7987639, 8226742, 8253528, 8336750, 8385520, 8541881, 8589723, 8661122, 8847140, 8968063, 9115967, 9255581, 9824204, 9949211		★☆☆☆☆ 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	10812008, 26872011		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	15950068, 28440909		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16448675, 1663781, 20949557, 24519534, 7769122, 8246286, 8494794, 8577718, 9433483		★☆☆☆☆ Found in Text Mining only
Malignant Uterine Corpus Neoplasm	Malignant Uterine Corpus Neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Malocclusion	Malocclusion	Pubtator	21438134	Associate	★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	12165863, 15958052, 17474063, 19652463		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	11788888, 17018607		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	12165863, 15958052, 17474063, 19652463		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15132767, 3191480, 8239493		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CLINVAR_DG	25157968, 26619011		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	12165863, 15958052, 17474063, 19652463		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	28675510		★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	26059403		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	23264394, 24828033, 26285815, 26718898, 3112776		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	1686168, 21418173, 23337891, 25532942, 25677562, 26400620, 2664010		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	LHGDN	17518771		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Melanocytic nevus syndrome congenital	Melanocytic nevus	Pubtator	34076666	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10980135, 14961576, 1686168, 16964246, 19438459, 20047469, 20711233, 20871217, 22133722, 22618666, 23174022, 2664010, 2682463, 2879249, 2892780, 2894003, 29206715, 29349077, 3928549, 3932274, 6087347, 6090953, 9666803		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	10980135, 15503312, 22618666, 2664010, 31900433, 31980996, 3329095, 33419898, 8600463, 8601728	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CLINVAR_DG	25157968		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CTD_human_DG	30619488		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	6087347	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	UNIPROT_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma Cutaneous Malignant	Melanoma	Pubtator	22618666, 23174022, 29349077	Associate	★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	14551355		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	11668501		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	25947161		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	6312328		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	26238782		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	25514803	Associate	★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmia Syndromic 6	Microphthalmia	Pubtator	30891959	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	3180012		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	22488832	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	30619488		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	11524732		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	3547139		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	32792599	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	1679760, 17767136, 2021541, 23803025, 25631445, 29037125	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	24224046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	12210337, 14608654, 16155195, 16170316, 17250658, 18470943, 22317973, 25914166, 28390077, 29073591		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	2565762		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11524732, 2245170		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	12569357		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	16156861, 26433312, 27863261, 3042048, 34476507, 36606310, 8978300	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	17039270, 18172263		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	3288815		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	17050076, 3180012, 3288815		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	3315181		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	1682229, 3059070, 3315181, 8195713		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	LHGDN	17638918		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	17412879		★☆☆☆☆ Found in Text Mining only
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	Myopathy, congenital, with excess of muscle spindles	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	16647958, 31556327		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	29973197	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	10511729, 2193294		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	31887226	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10076772, 10078924, 10511729, 10548482, 10597234, 10629074, 10657964, 10667209, 10686936, 10697610, 10725091, 10873061, 10874018, 10931682, 10933056, 10945494, 11097227, 11129419, 11156393, 11466682, 11471902, 11695564, 11724366, 11745690, 11753967, 11765016, 11929820, 12011455, 12117780, 12124803, 12477769, 12527710, 12606951, 12851690, 12878090, 1333425, 1351862, 1358812, 1373678, 1427748, 14507635, 14629748, 14692617, 14724583, 1486864, 1497802, 14996724, 14997054, 15034862, 15118616, 15132767, 15277242, 15490458, 1568246, 1568247, 15753985, 15832194, 15842051, 15876486, 15897885, 15929091, 16143123, 16170316, 16246194, 1663450, 1679639, 1679760, 1679963, 16805855, 1685466, 16908535, 17164262, 17177160, 17256055, 17551924, 17588166, 18081150, 1829952, 1846346, 1873783, 19035362, 19107609, 19129555, 1913619, 19182994, 19358278, 1945413, 19527492, 19571709, 19959686, 19966015, 19995790, 20043093, 20232877, 2031288, 20485437, 20526288, 2060183, 2071229, 20820192, 20871217, 20871609, 21035469, 21443421, 21479914, 21514184, 21697397, 2185882, 2195986, 22496619, 22592533, 23150177, 23380875, 23590130, 23794399, 23918800, 24169525, 24213576, 24798740, 24997477, 25097040, 2550179, 2562114, 2565762, 25683115, 2568483, 2573414, 2573420, 2578622, 25805818, 25902334, 25916654, 26187617, 26300491, 2643097, 26460950, 2647332, 2648396, 26544513, 2675903, 26773571, 26780944, 2690853, 27067779, 27074591, 27103403, 2733039, 27538498, 27739435, 27834948, 28009606, 28162280, 2824040, 28337834, 2841224, 2845854, 2855021, 28675510, 28799801, 2889677, 2905174, 29073591, 2917352, 29193225, 29269125, 2981609, 2992777, 2994902, 3002619, 30115483, 30419845, 3058913, 3060795, 3066395, 30709910, 30796510, 30838648, 31034097, 31227505, 3131765, 3276397, 3330777, 3356753, 3370635, 3524819, 3554234, 3904752, 6187346, 6312328, 6328318, 7604020, 7705948, 7707384, 7872685, 7901404, 7903794, 7916988, 7927918, 7928625, 7937975, 7982238, 8096149, 8106627, 8118795, 8143614, 8154963, 8175026, 8178928, 8319218, 8370709, 8402459, 8426738, 8583569, 8623922, 8625212, 8625461, 8634090, 8642043, 8674034, 8690195, 8978340, 9115960, 9115967, 9178826, 9234384, 9294609, 9361177, 9392053, 9418856, 9421067, 9421075, 9563885, 9715515, 9816274, 9921983		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	3352917		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	2981609, 3037545, 6086496, 6312328, 6325938		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	15802787, 17215959, 18057715	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma	Neuroblastoma	CTD_human_DG	15814359, 26121086		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma	Neuroblastoma	BEFREE	16822308, 1873783, 2039993, 20871609, 27214302, 3276397, 7576949, 7982238, 8625168, 8625212, 9516827, 9619634, 9781958		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroblastoma	Neuroblastoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurocutaneous Syndromes	Neurocutaneous Syndromes	BEFREE	28523882, 30443000		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	7657385		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumors	Neuroectodermal Tumors	BEFREE	3554234		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	15842051, 26718898, 27913610		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	11896214, 1568246, 1568247, 17053831, 25917016, 26479420, 31307198, 8018414		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	25946318, 31127187	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	17412879	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	28455154		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	25532942, 26400620		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nevus sebaceous	Epidermal nevus syndrome	BEFREE	22683711, 28554764		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nevus sebaceous	Epidermal nevus syndrome	ORPHANET_DG	22683711		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nevus sebaceous	Epidermal nevus syndrome	CLINVAR_DG	23096712		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nevus sebaceous	Epidermal nevus syndrome	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nevus Sebaceus of Jadassohn	Epidermal nevus syndrome	BEFREE	22683711, 28554764		★☆☆☆☆ Found in Text Mining only
Nevus Sebaceus of Jadassohn	Epidermal nevus syndrome	CTD_human_DG	22683711		★☆☆☆☆ Found in Text Mining only
Nevus Sebaceus of Jadassohn	Epidermal nevus syndrome	UNIPROT_DG	22683711		★☆☆☆☆ Found in Text Mining only
Nevus Sebaceus of Jadassohn	Epidermal nevus syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Nevus Sebaceus of Jadassohn	Epidermal nevus syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nevus Sebaceus of Jadassohn	Epidermal nevus syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nevus spilus	Nevus spilus	BEFREE	23884457		★☆☆☆☆ Found in Text Mining only
Nevus spilus	Nevus spilus	HPO_DG			★☆☆☆☆ Found in Text Mining only
NEVUS, EPIDERMAL (disorder)	Epidermal nevus	BEFREE	24243633, 30864170		★☆☆☆☆ 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
Non-Small Cell Lung Carcinoma	Lung carcinoma	CLINVAR_DG	10716188, 21779495, 2674130, 3004741, 3283542, 3304147, 6287572, 6287573, 6288698		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12606951, 1324793, 14511407, 15597105, 24292713, 7664270, 8118795, 8123593		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonmedullary Thyroid Carcinoma	Nonmedullary thyroid carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	CLINVAR_DG	16329078, 21438134, 29493581		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome	Noonan Syndrome	BEFREE	17054105, 17324647, 19396835, 21784453		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome	Noonan syndrome	Pubtator	17483702	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome	Noonan Syndrome	CTD_human_DG	17703371		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome	Noonan Syndrome	CLINGEN_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome 1	Noonan Syndrome	CTD_human_DG	17703371		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome 1	Noonan Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NOONAN SYNDROME 3	Noonan Syndrome	CLINVAR_DG	1904555, 3510078		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome-like disorder with loose anagen hair	Noonan-Like Syndrome With Loose Anagen Hair	BEFREE	28371260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noonan syndrome-like disorder with loose anagen hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG	28371260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noonan-Like Syndrome With Loose Anagen Hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG	28371260		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	BEFREE	24341474		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	10433077	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30402038	Stimulate	★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	38050610	Associate	★☆☆☆☆ Found in Text Mining only
Organoid Nevus Phakomatosis	Epidermal nevus syndrome	GENOMICS_ENGLAND_DG	16170316, 24006476		★☆☆☆☆ Found in Text Mining only
Organoid Nevus Phakomatosis	Epidermal nevus syndrome	BEFREE	22683711		★☆☆☆☆ Found in Text Mining only
Organoid Nevus Phakomatosis	Epidermal nevus syndrome	ORPHANET_DG	22683711		★☆☆☆☆ Found in Text Mining only
Organoid Nevus Phakomatosis	Epidermal nevus syndrome	CTD_human_DG	22683711		★☆☆☆☆ Found in Text Mining only
Organoid Nevus Phakomatosis	Epidermal nevus syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32062610	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta Levin type	Osteogenesis imperfecta	Pubtator	24006476	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	2018350, 2831097, 8101872, 8983023		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10078924, 10667571, 15258697, 2071229, 2250914, 2917352, 30426508, 8319218, 9115967		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16384911		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15940260, 2113532	Associate	★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	CLINVAR_DG	16170316		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10873061, 11677475, 12189555, 12409332, 15782177, 1741644, 18075308, 19208745, 20232877, 2110130, 23393682, 28607485, 29977235, 31227505, 3932275, 8063617, 8157353, 8536860		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	LHGDN	15855817		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	18075308, 9647372		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	19270646		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	19029954		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	11677475, 29248441		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	10374765, 11677475, 12189555, 18075308, 18946221		★☆☆☆☆ 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	17660800, 22558328, 23993207, 24798740		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	ORPHANET_DG	17891228, 25109485, 25132659, 25648502		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	10454586, 10569807, 10783309, 11695562, 11765016, 12759452, 1317208, 16094607, 1737360, 28371260, 9115586, 9256446		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papilloma	Papilloma	LHGDN	11695562		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papilloma	Papilloma	CLINVAR_DG	16170316, 16329078, 16372351, 16443854, 16881968, 16969868, 17054105, 18039947, 19206176		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papilloma	Papilloma	Pubtator	30838648, 37704624	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papilloma	Papilloma	CTD_human_DG	8330346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papilloma	Papilloma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papilloma, Squamous Cell	Papilloma	CTD_human_DG	8330346		★☆☆☆☆ Found in Text Mining only
Papillomatosis	Papillomatosis	CTD_human_DG	8330346		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	24466223, 26773571, 28122379	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	31307198		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	27628320	Associate	★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile Neoplasms	CTD_human_DG	18355852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	25367099		★☆☆☆☆ Found in Text Mining only
Phacomatosis pigmentokeratotica	Phakomatosis Pigmentokeratotica	GENOMICS_ENGLAND_DG	16170316, 24006476		★☆☆☆☆ Found in Text Mining only
Phacomatosis pigmentokeratotica	Phakomatosis Pigmentokeratotica	BEFREE	23337891, 24628623, 28523882, 29430633		★☆☆☆☆ Found in Text Mining only
Phacomatosis pigmentokeratotica	Phakomatosis Pigmentokeratotica	ORPHANET_DG	23337891		★☆☆☆☆ Found in Text Mining only
Phakomatosis pigmentokeratotica	Phakomatosis Pigmentokeratotica	Orphanet			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	1452458, 24466223, 24684458, 26773571, 29159601, 37062455	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	26773571, 29159601, 31307198		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	17712732		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	31996211	Associate	★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	15010862		★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Poroma	Poroma	BEFREE	27067779		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	3325880		★☆☆☆☆ Found in Text Mining only
Primary malignant neoplasm of brain	Brain Neoplasms	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10850453, 1998954		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	32740981	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	2208148		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26181205, 32859160, 37399401, 7928631	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	CLINVAR_DG	16170316, 16329078, 16372351, 16443854, 16881968, 16969868, 17054105, 18039947, 19206176		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	11129419, 19669908		★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	LHGDN	18655729		★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	BEFREE	19358278, 20383576, 20622004, 21213373		★☆☆☆☆ Found in Text Mining only
Recurrent Brain Neoplasm	Brain Neoplasms	CTD_human_DG	27935819		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	11776079		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	2108944		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31534544, 7903794		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	31685810		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	22495892	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	26278805	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	28337834		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	22422829, 26274747, 8843915		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	16372351, 24641407, 26872011, 29430633		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Rhabdomyosarcoma	LHGDN	17164262		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	24641407, 33372952, 35459782, 39368853	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Rhabdomyosarcoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Rhabdomyosarcoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	24641407	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	26872011, 27589201, 34755412, 39379998	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11776079, 7582717		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	10835516, 26247885, 32557577, 40243851	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	1967596, 20150643, 26295973, 2664010, 27214302, 2861893, 3975607, 8483882, 8766521		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Systemic	Systemic sclerosis	Pubtator	28434888	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG	16170316, 16329078, 16372351, 16443854, 16881968, 16969868, 17054105, 18039947, 19206176		★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	26804118	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	CTD_human_DG	19855393		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seminoma	Seminoma	BEFREE	8143614, 8816895		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Serous cystadenocarcinoma ovary	Ovarian Serous Cystadenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	28002430		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	12393503		★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	8096149		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	34649968	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	15958052, 18758463, 24898257, 26558449, 8330346, 8508502, 9766437		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	BEFREE	16805855, 2668964, 2690853, 9115586, 9269990, 9546428		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea, Obstructive	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	21633259		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	2544624, 2842776		★☆☆☆☆ Found in Text Mining only
Spermatocytic seminoma	Spermatocytic Seminoma	BEFREE	24259709		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatocytic seminoma	Spermatocytic Seminoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPITZ NEVUS, SOMATIC	SOMATIC SPITZ NEVUS	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Splenic Neoplasms	Splenic Neoplasms	CTD_human_DG	26558449		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	10783309, 11756239, 12648234, 12878090, 1403838, 14511407, 1497802, 16158048, 19849697, 1996309, 2064275, 2064725, 21771097, 22294102, 23266722, 2406716, 24292195, 2568483, 26319365, 2654810, 2668964, 2690853, 27074337, 27590518, 3019219, 3370635, 7916998, 8519418, 8519419, 8853037, 8907200, 9115586, 9294609, 9778107		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12878090		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	24224046, 25125259		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	21798893, 24224046, 24292195, 24341335, 25275298, 25980437, 26572163, 26683928, 27590518, 27628320, 28435450, 29053175, 29240723, 31422218, 31541927, 31960612, 32296588, 32381551, 32738272, 33527763, 33750196, 35247914, 36374444, 36522371, 36603172, 37004423, 38219706, 39432990, 40243851, 7599040	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	4008102		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	26683928		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	17488404, 3356753, 9111196		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	CLINVAR_DG	22256804, 22726224, 25157968, 26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	12879021, 1582509, 1698442, 24123531, 30115483		★☆☆☆☆ 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 vulva	Carcinoma Of Vulva	BEFREE	25072932, 29422544		★☆☆☆☆ Found in Text Mining only
Stage IV Skin Melanoma	Skin Melanoma	BEFREE	17518771		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	20150643		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11466682, 1524724, 2179035, 3089984, 8412172, 8985834		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	11397402, 26558449		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18783589		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	18783589, 21152119, 37794689	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomatitis	Stomatitis	BEFREE	29408453		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	36065636	Associate	★☆☆☆☆ Found in Text Mining only
Sweat Gland Neoplasms	Sweat Gland Neoplasms	BEFREE	24628623		★☆☆☆☆ Found in Text Mining only
Sweat Gland Neoplasms	Sweat gland neoplasm	Pubtator	24628623	Associate	★☆☆☆☆ Found in Text Mining only
Syringocystadenoma Papilliferum	Papillary Syringocystadenoma	BEFREE	25532942, 30398985		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	LHGDN	16081426		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	19851777		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	CTD_human_DG	29438700		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	10679914, 2247480		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	19855393, 24259709	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	BEFREE	19855393		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	19855393	Associate	★☆☆☆☆ Found in Text Mining only
Thanatophoric Dysplasia	Thanatophoric Dysplasia	BEFREE	19855393		★☆☆☆☆ Found in Text Mining only
THANATOPHORIC DYSPLASIA, TYPE I (disorder)	Thanatophoric Dysplasia	BEFREE	19855393		★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	36606310	Associate	★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	BEFREE	19861435		★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	19861435, 22417847, 24243633, 27844328		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	CLINVAR_DG	20859122, 25157968		★☆☆☆☆ Found in Text Mining only
Thymus Neoplasms	Thymus Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	22865907, 23264394, 2576939, 32421817	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	27236916, 29214440, 30361901, 33390813, 37175943, 37704624	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER, NONMEDULLARY, 2	Thyroid cancer	UNIPROT_DG	12727991		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
THYROID CANCER, NONMEDULLARY, 2	Thyroid cancer	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	1980342, 19880792, 23150177, 26259532, 29760048, 9724079		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CTD_human_DG	3078959		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	28489587	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	25487739, 29669480		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	CTD_human_DG	3078959		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CLINVAR_DG	17384584, 19255327, 19773371, 23406027, 25157968, 26619011		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	18310288, 18383861		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	1980342, 2021946, 23150177, 26259532		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CTD_human_DG	3078959		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	18783589, 23150177, 26259532, 26695504, 30361901, 32421817, 32812852, 37175943, 38277563, 40104288	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Nodule	Thyroid Nodule	BEFREE	25132659, 27863786		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	22732473	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	BEFREE	16219633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tongue Neoplasms	Tongue Neoplasms	CTD_human_DG	20043093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tracheomalacia	Tracheomalacia	HPO_DG			★☆☆☆☆ 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	BEFREE	9703927		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichilemmoma	Trichilemmoma	BEFREE	24890286		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25155634, 28075450	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	28523882		★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	8394730		★☆☆☆☆ Found in Text Mining only
Turner Syndrome, Male	Turner Syndrome, Male	CTD_human_DG	17703371		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	1854618, 2557232, 9433483		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	8185828		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	6577419	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	10995035, 15611796, 1619852, 1673788, 19506904, 20473523, 21072204, 21931711, 22452803, 22820081, 24169525, 24357085, 24459064, 2643097, 26674223, 26901314, 36142409, 36495164, 9048488, 9179693	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	6312328		★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28004470		★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Uterine Carcinosarcoma	Endometrial Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	12366664, 22237208, 24884338, 25669975	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	7997802		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	25133308, 28371260	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	24662767	Associate	★☆☆☆☆ Found in Text Mining only
Vasculopathy Retinal With Cerebral Leukodystrophy	Retinal vasculopathy with cerebral leukodystrophy	Pubtator	37488489	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	25914166	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Verrucous epidermal nevus	Verrucous Epidermal Nevus	CTD_human_DG	22683711		★☆☆☆☆ Found in Text Mining only
WAGR Syndrome	WAGR Syndrome	BEFREE	2989154		★☆☆☆☆ Found in Text Mining only
Woolly hair congenital	Woolly hair	Pubtator	30864170	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	1893942, 7916998, 8453633		★☆☆☆☆ Found in Text Mining only