NTRK1 (neurotrophic receptor tyrosine kinase 1)

Gene

• Entrez ID: 4914
• Gene name: Neurotrophic receptor tyrosine kinase 1
• Gene symbol: NTRK1
• Synonyms (NCBI Gene): MTC, TRK, TRK1, TRKA, Trk-A, p140-TrkA
• Chromosome: 1
• Chromosome location: 1q23.1
• Summary: This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to ce

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6336	C>T	Benign, benign-likely-benign, pathogenic	Coding sequence variant, missense variant
rs6339	G>T	Benign, benign-likely-benign, pathogenic	Coding sequence variant, missense variant
rs35669708	G>A,C	Benign-likely-benign, benign, pathogenic, likely-benign	Coding sequence variant, missense variant
rs80356674	T>A	Pathogenic	Intron variant
rs80356675	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs80356676	->T	Pathogenic	Frameshift variant, coding sequence variant
rs80356677	G>T	Pathogenic	Missense variant, coding sequence variant
rs121964866	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121964868	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs121964869	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121964870	A>G	Pathogenic	Missense variant, coding sequence variant
rs137979116	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs137994522	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201503610	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs370483210	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs398122810	TG>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs543320028	C>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs606231466	A>T	Pathogenic	Intron variant
rs606231467	G>A	Pathogenic	Coding sequence variant, missense variant
rs747711259	T>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs747976486	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs756981419	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs759637817	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs763758904	C>A,T	Pathogenic, uncertain-significance	Stop gained, synonymous variant, coding sequence variant
rs764171953	G>A	Likely-pathogenic	Splice acceptor variant
rs786205449	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs797045059	A>C	Pathogenic	Splice acceptor variant
rs797045060	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs879253889	C>T	Pathogenic	Coding sequence variant, stop gained
rs879253890	A>T	Pathogenic	Coding sequence variant, stop gained
rs914061514	A>C	Likely-pathogenic	Intron variant
rs1026300967	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064793219	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1363364803	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1452844753	G>T	Likely-pathogenic	Splice donor variant
rs1485714154	G>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant
rs1553263326	G>A	Likely-pathogenic	Intron variant
rs1558104865	CAG>-	Likely-pathogenic	Splice acceptor variant, intron variant
rs1558105252	->TTGT	Pathogenic	Coding sequence variant, frameshift variant
rs1571685736	TCGCCTGTG>-	Uncertain-significance, likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1571689751	C>T	Pathogenic	Coding sequence variant, stop gained
rs1571690112	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1571696060	GGTGTCTGCGCCT>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2056950	hsa-miR-873	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ING4	Repression	22078444
MYCN	Repression	21123453

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IDA	2927393
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IDA	15488758, 27655914
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IMP	1281417
GO:0005004	Function	GPI-linked ephrin receptor activity	IEA
GO:0005030	Function	Neurotrophin receptor activity	IBA
GO:0005030	Function	Neurotrophin receptor activity	IEA
GO:0005166	Function	Neurotrophin p75 receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	8226808, 8384556, 10490030, 12237455, 14985763, 15488758, 17389358, 21102451, 21364532, 21570973, 22939624, 26446845, 27445338, 28197073, 35384245
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005769	Component	Early endosome	ISS
GO:0005770	Component	Late endosome	IEA
GO:0005770	Component	Late endosome	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	1281417, 2927393, 15488758, 27655914
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006468	Process	Protein phosphorylation	IDA	15488758
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007611	Process	Learning or memory	IEA
GO:0007623	Process	Circadian rhythm	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	15488758
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	15488758
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0010465	Function	Nerve growth factor receptor activity	IDA	15488758
GO:0010465	Function	Nerve growth factor receptor activity	IMP	1281417
GO:0010623	Process	Programmed cell death involved in cell development	IEA
GO:0010623	Process	Programmed cell death involved in cell development	ISS
GO:0010976	Process	Positive regulation of neuron projection development	IDA	15488758
GO:0010976	Process	Positive regulation of neuron projection development	IDA	15488758
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	2927393
GO:0019900	Function	Kinase binding	IEA
GO:0021553	Process	Olfactory nerve development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030183	Process	B cell differentiation	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0031175	Process	Neuron projection development	IDA	27655914
GO:0031175	Process	Neuron projection development	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0032991	Component	Protein-containing complex	ISS
GO:0035094	Process	Response to nicotine	IEA
GO:0038083	Process	Peptidyl-tyrosine autophosphorylation	IDA	27655914
GO:0038083	Process	Peptidyl-tyrosine autophosphorylation	IMP	1281417
GO:0038180	Process	Nerve growth factor signaling pathway	IBA
GO:0038180	Process	Nerve growth factor signaling pathway	IEA
GO:0038180	Process	Nerve growth factor signaling pathway	IEA
GO:0038180	Process	Nerve growth factor signaling pathway	IMP	1281417
GO:0042490	Process	Mechanoreceptor differentiation	IEA
GO:0042802	Function	Identical protein binding	IPI	21187090, 28197073
GO:0042803	Function	Protein homodimerization activity	IDA	1281417, 17196528
GO:0043025	Component	Neuronal cell body	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	TAS	22635104
GO:0043068	Process	Positive regulation of programmed cell death	IEA
GO:0043068	Process	Positive regulation of programmed cell death	ISS
GO:0043121	Function	Neurotrophin binding	IBA
GO:0043121	Function	Neurotrophin binding	TAS	9290260
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0043547	Process	Positive regulation of GTPase activity	IDA	15488758
GO:0043547	Process	Positive regulation of GTPase activity	IDA	15488758
GO:0045766	Process	Positive regulation of angiogenesis	IDA	15488758
GO:0046579	Process	Positive regulation of Ras protein signal transduction	IDA	15488758
GO:0046579	Process	Positive regulation of Ras protein signal transduction	IDA	15488758
GO:0046777	Process	Protein autophosphorylation	IDA	15488758
GO:0048011	Process	Neurotrophin TRK receptor signaling pathway	IDA	15488758
GO:0048013	Process	Ephrin receptor signaling pathway	IEA
GO:0048406	Function	Nerve growth factor binding	IDA	15488758
GO:0048406	Function	Nerve growth factor binding	IDA	1281417, 15488758, 17196528
GO:0048406	Function	Nerve growth factor binding	IEA
GO:0048485	Process	Sympathetic nervous system development	IEA
GO:0048485	Process	Sympathetic nervous system development	ISS
GO:0048666	Process	Neuron development	IDA	27655914
GO:0048678	Process	Response to axon injury	IEA
GO:0050965	Process	Detection of temperature stimulus involved in sensory perception of pain	IEA
GO:0050966	Process	Detection of mechanical stimulus involved in sensory perception of pain	IEA
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	15488758
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051599	Process	Response to hydrostatic pressure	IEA
GO:0051602	Process	Response to electrical stimulus	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS	19036963
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	IEA
GO:0055037	Component	Recycling endosome	IEA
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0060009	Process	Sertoli cell development	IEA
GO:0060384	Process	Innervation	IEA
GO:0060385	Process	Axonogenesis involved in innervation	IEA
GO:0060385	Process	Axonogenesis involved in innervation	ISS
GO:0061368	Process	Behavioral response to formalin induced pain	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	15488758
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	15488758
GO:0071316	Process	Cellular response to nicotine	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:1904646	Process	Cellular response to amyloid-beta	IDA	11927634
GO:1990090	Process	Cellular response to nerve growth factor stimulus	IBA
GO:1990090	Process	Cellular response to nerve growth factor stimulus	IEA
GO:1990090	Process	Cellular response to nerve growth factor stimulus	IEA
GO:1990090	Process	Cellular response to nerve growth factor stimulus	IMP	1281417
GO:1990090	Process	Cellular response to nerve growth factor stimulus	ISS

Other IDs

• MIM: 191315
• HGNC: 8031
• e!Ensembl: ENSG00000198400

Protein

• UniProt ID: P04629
• Protein name: High affinity nerve growth factor receptor (EC 2.7.10.1) (Neurotrophic tyrosine kinase receptor type 1) (TRK1-transforming tyrosine kinase protein) (Tropomyosin-related kinase A) (Tyrosine kinase receptor) (Tyrosine kinase receptor A) (Trk-A) (gp140trk) (
• Protein function: Receptor tyrosine kinase involved in the development and the maturation of the central and peripheral nervous systems through regulation of proliferation, differentiation and survival of sympathetic and nervous neurons. High affinity receptor fo
• PDB: 1HE7, 1SHC, 1WWA, 1WWW, 2IFG, 2N90, 4AOJ, 4CRP, 4F0I, 4GT5, 4PMM, 4PMP, 4PMS, 4PMT, 4YNE, 4YPS, 5H3Q, 5I8A, 5JFS, 5JFV, 5JFW, 5JFX, 5KMI, 5KMJ, 5KMK, 5KML, 5KMM, 5KMN, 5KMO, 5KVT, 5WR7, 6D1Y, 6D1Z, 6D20, 6D22, 6DKB, 6DKG, 6DKI, 6DKW, 6IQN, 6J5L, 6NPT, 6NSP, 6NSS, 6PL1, 6PL2, 6PL3, 6PL4, 6PMA, 6PMB, 6PMC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16920	TPKR_C2	151 → 192	Tyrosine-protein kinase receptor C2 Ig-like domain	Domain
  PF18613	TrkA_TMD	417 → 438	Tyrosine kinase receptor A trans-membrane domain	Domain
  PF07714	PK_Tyr_Ser-Thr	510 → 781	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform TrkA-I is found in most non-neuronal tissues. Isoform TrkA-II is primarily expressed in neuronal cells. TrkA-III is specifically expressed by pluripotent neural stem and neural crest progenitors. {ECO:0000269|PubMed:15488758, E
• Sequence:

  MLRGGRRGQLGWHSWAAGPGSLLAWLILASAGAAPCPDACCPHGSSGLRCTRDGALDSLH
  HLPGAENLTELYIENQQHLQHLELRDLRGLGELRNLTIVKSGLRFVAPDAFHFTPRLSRL
  NLSFNALESLSWKTVQGLSLQELVLSGNPLHCSCALRWLQRWEEEGLGGVPEQKLQCHGQ
  GPLAHMPNASCGVPTLKVQVPNASVDVGDDVLLRCQVEGRGLEQAGWILTELEQSATVMK
  SGGLPSLGLTLANVTSDLNRKNVTCWAENDVGRAEVSVQVNVSFPASVQLHTAVEMHHWC
  IPFSVDGQPAPSLRWLFNGSVLNETSFIFTEFLEPAANETVRHGCLRLNQPTHVNNGNYT
  LLAANPFGQASASIMAAFMDNPFEFNPEDPIPVSFSPVDTNSTSGDPVEKKDETPFGVSV
  AVGLAVFACLFLSTLLLVLNKCGRRNKFGINRPAVLAPEDGLAMSLHFMTLGGSSLSPTE
  GKGSGLQGHIIENPQYFSDACVHHIKRRDIVLKWELGEGAFGKVFLAECHNLLPEQDKML
  VAVKALKEASESARQDFQREAELLTMLQHQHIVRFFGVCTEGRPLLMVFEYMRHGDLNRF
  LRSHGPDAKLLAGGEDVAPGPLGLGQLLAVASQVAAGMVYLAGLHFVHRDLATRNCLVGQ
  GLVVKIGDFGMSRDIYSTDYYRVGGRTMLPIRWMPPESILYRKFTTESDVWSFGVVLWEI
  FTYGKQPWYQLSNTEAIDCITQGRELERPRACPPEVYAIMRGCWQREPQQRHSIKDVHAR
  LQALAQAPPVYLDVLG

• Sequence length: 796

Pathways

KEGG:

MAPK signaling pathway
Ras signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Apoptosis
Neurotrophin signaling pathway
Inflammatory mediator regulation of TRP channels
Pathways in cancer
Transcriptional misregulation in cancer
Thyroid cancer
Central carbon metabolism in cancer

Reactome:

Frs2-mediated activation
ARMS-mediated activation
Retrograde neurotrophin signalling
TRKA activation by NGF
PI3K/AKT activation

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
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs747711259, rs763758904, rs1485714154, rs1571695851, rs764992664, rs756981419, rs764816792, rs1571685736, rs748672380, rs1232901259	RCV000790288 RCV000789608 RCV000790137 RCV000790289 RCV000789609 RCV000789685 RCV000789507 RCV000789508 RCV000789673 RCV000789502	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial medullary thyroid carcinoma	Pathogenic	rs1647927494	RCV001257443	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary insensitivity to pain with anhidrosis	Pathogenic; Likely pathogenic	rs2102885187, rs370828525, rs2102905446, rs2102912108, rs2102919112, rs2102920071, rs774533432, rs2102925213, rs1393272944, rs140852621, rs1647932465, rs748672380, rs2102900184, rs764771898, rs1324983370, rs1648162011, rs2102878843, rs2102920143, rs869026199, rs2102893113, rs2102904669, rs1647569895, rs2102906069, rs750168062, rs2102894271, rs139731614, rs2102915741, rs2102912139, rs1310506980, rs1571699664, rs2102886311, rs2102894535, rs2102925337, rs1057521034, rs606231466, rs606231467, rs2525667554, rs1558095864, rs781055610, rs1381516878, rs747947642, rs765477124, rs2525589811, rs757012840, rs149663928, rs2525660364, rs1232901259, rs2102885178, rs2102930678, rs754483923, rs797045059, rs797045060, rs2525643959, rs2525644032, rs2525639606, rs2525614650, rs121964866, rs150579345, rs993479544, rs1655828678, rs2525628302, rs2525615664, rs879253889, rs879253890, rs769508694, rs2525604589, rs770727871, rs914061514, rs35669708, rs121964868, rs121964870, rs1231568960, rs2525614292, rs2102885150, rs2525654508, rs2525558964, rs2525557872, rs2102919917, rs2525667534, rs2525589981, rs2525644388, rs1174707423, rs2525639882, rs2525659893, rs2525609335, rs1647923012, rs2525559133, rs2102927015, rs2525572091, rs777422547, rs2525589888, rs2102878838, rs2102900454, rs2102927340, rs759190964, rs80356675, rs80356676, rs80356677, rs80356674, rs398122810, rs1064793219, rs1452844753, rs747711259, rs764171953, rs370483210, rs1363364803, rs1558104865, rs1558105252, rs763758904, rs1485714154, rs1571695851, rs764992664, rs756981419, rs764816792, rs1571685736, rs747976486, rs1571689751, rs1571696060, rs1571690112, rs763122825, rs1655824699, rs1647277529, rs369353892, rs1648159596, rs780724170, rs768373757, rs1655612629, rs1655825221, rs1647805941, rs1648170217, rs1474214658, rs1647927494	RCV001384843 RCV001386283 RCV001386515 RCV001390022 RCV001387630 RCV001385737 RCV001382532 RCV001383101 RCV001389855 RCV001580750 RCV002538629 RCV002539867 RCV003511767 RCV001784762 RCV001912697 RCV001950603 RCV001985821 RCV001884399 RCV001950863 RCV001893073 RCV002008582 RCV001916588 RCV001910720 RCV002041093 RCV001909791 RCV001993387 RCV001989005 RCV001941533 RCV001956056 RCV001944254 RCV001983045 RCV002011006 RCV002211040 RCV002251084 RCV002289279 RCV000148945 RCV000148946 RCV003098720 RCV003065325 RCV003069946 RCV003077436 RCV003069132 RCV003085895 RCV003084849 RCV002592319 RCV002664188 RCV002634316 RCV002574813 RCV002618849 RCV002716418 RCV002755377 RCV002770736 RCV000191113 RCV000191114 RCV002852594 RCV002863761 RCV002857999 RCV002871826 RCV002862737 RCV002886362 RCV002923641 RCV002962120 RCV003025988 RCV003006207 RCV003042069 RCV000985097 RCV003987474 RCV003226691 RCV003230939 RCV003236469 RCV000013095 RCV000013096 RCV000013097 RCV000013103 RCV000013105 RCV003340887 RCV003512929 RCV003512411 RCV003512278 RCV003513337 RCV003513583 RCV003511938 RCV003512571 RCV003512697 RCV003512792 RCV003624585 RCV003624706 RCV003625407 RCV003625696 RCV003625519 RCV003626062 RCV003626043 RCV003623941 RCV003624368 RCV003823483 RCV003832357 RCV003855542 RCV003880425 RCV004515796 RCV004006234 RCV004527536 RCV004586251 RCV000020468 RCV000020469 RCV000020470 RCV000020471 RCV000022807 RCV001828497 RCV000539540 RCV000631337 RCV000668622 RCV000691155 RCV000703050 RCV000703158 RCV000701106 RCV001222355 RCV000807150 RCV001382531 RCV001381359 RCV000820283 RCV002535803 RCV000809119 RCV001329488 RCV001218483 RCV000813929 RCV000816391 RCV000804439 RCV000803508 RCV001030785 RCV001069841 RCV001059110 RCV001035125 RCV001036150 RCV001064041 RCV001065272 RCV001197778 RCV001203646 RCV001205093 RCV001207315 RCV001212380 RCV001220349 RCV001257443	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2102886126	RCV001780051	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NTRK1-related disorder	Likely pathogenic; Pathogenic	rs369353892	RCV003411959	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic	rs2102917659, rs1648095119, rs2102893473	RCV003154733 RCV003154777 RCV003154780	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1	Pathogenic	rs748672380	RCV004798874	★★★★☆ 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
Aganglionic megacolon	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary sensory and autonomic neuropathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4	—	ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEWY BODY DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyruvate kinase deficiency of red cells	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORY NEUROPATHY, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acanthosis Nigricans	Acanthosis Nigricans	BEFREE	12452857		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	18854870		★☆☆☆☆ Found in Text Mining only
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	28270361		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	30592640		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	29920189		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	30046390		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	16862449, 17671718		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	27926778, 30801752, 31761448, 9097992		★☆☆☆☆ 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	27151654, 30613269		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	LHGDN	16546643		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10646882, 29037860		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	1849459, 21655256, 9294615, 9506724		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29920189		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	19716854		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	17973327, 18086126, 22782892, 8987776		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	BEFREE	18493886		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	10693951, 16539663, 20561151, 21397006	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	23095849	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis, Primary Cutaneous	Amyloidosis	BEFREE	26438242		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30061574		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	31575382	Associate	★☆☆☆☆ Found in Text Mining only
Anal carcinoma	Anal Cancer	BEFREE	30563058		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	21910667, 31230400		★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	BEFREE	10233776, 10567924, 11159935, 28940190		★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	31871300	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	16965393		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	19490633	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	21792838	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	21792838	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	7559588	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	20934630, 23195334		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	23195334	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	17635673, 17971243		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	17635673, 17971243	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	37951450	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32781864	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	38241559	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	25346392		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30799683		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	23190644		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	22833165		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	14708030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22453067, 24880661		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	33219493	Associate	★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	27259011	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	30461622	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	18991757, 21321379, 24190638, 24840578, 29125233, 31738426		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	25970776, 27503856	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11306479, 11856880, 14528282, 14767486, 16242838, 16908432, 19118499, 19307182, 19513552, 20056651, 21350004, 22128158, 22184117, 24838231, 27475932, 28591735, 29700210, 30594749, 30707464		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10681513, 11359788, 17617666, 18716795, 23948750, 28590426, 31575382, 31823098, 32348852, 32957504, 36034422, 36140725	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	36614261, 38369186	Associate	★☆☆☆☆ Found in Text Mining only
C-cell hyperplasia of thyroid	Thyroid Hyperplasia	BEFREE	10876191, 15588381, 18331611, 18976163, 23745650, 24297502, 26876062		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10646882, 30134855, 31823098, 38531265	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10083732, 23232187, 25293577, 30455128, 30801752, 9162191		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	30134855, 32669612, 32957984, 35149769, 35900506, 36229858	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	32957504	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	28793172, 31640749, 36499693	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22453067, 24880661		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17175376, 24162815, 27370605, 30116404, 30986992, 31761448		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	33081171	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31605106	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31208361	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21466358, 30360033	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29802376	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11448924, 16935322, 21236475, 25296882, 31076365, 7557620		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	25503931, 31208361		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	34850167	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	31474318		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	21672317	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	11507083, 15229656		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29920189		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	31371409		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	17973327, 18086126, 22782892, 8987776		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	23024367		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24563076, 24744599	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	17700442		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	27681484, 30670929		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	11880308		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24205204		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	10688839		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	30411541	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	30411541	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	16539663	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	23095849	Inhibit	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30779268		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	16539663	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	21397006, 23095849	Inhibit	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	10764711	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26001971, 26716414, 3477801		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33707574	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10717245, 17487504, 25926053, 26001971, 26472021, 26546295, 26563355, 26939704, 28169277, 28591715, 29360440, 29689458, 31792356		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25926053, 26472021, 26563355, 28591715, 29045518, 31871300, 32627883, 33707574, 35008821, 35237889, 35506567, 35584350, 36416133, 36700211, 37142453, 37686416, 9290260	Associate	★☆☆☆☆ Found in Text Mining only
Congenital abnormality of vein	Venous malformation	BEFREE	23633549, 30626204		★☆☆☆☆ Found in Text Mining only
Congenital hemangioma	Congenital Hemangioma	BEFREE	18287964		★☆☆☆☆ Found in Text Mining only
Congenital Pain Insensitivity	Congenital Pain Insensitivity	ORPHANET_DG	11310631		★☆☆☆☆ Found in Text Mining only
Congenital Pain Insensitivity	Congenital Pain Insensitivity	BEFREE	16279365, 19651702, 20647579, 27184211, 28940190		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28416534		★☆☆☆☆ Found in Text Mining only
Corneal Ulcer	Corneal Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	35707464	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	12452857		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	10764711	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	24858900		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	12099633		★☆☆☆☆ Found in Text Mining only
Deficiency of pyruvate kinase	Deficiency Of Pyruvate Kinase	BEFREE	11668614		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28844566, 30562625		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	30445446		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	35327643	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	38241559	Associate	★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	14708030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	20014955		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	LHGDN	16586073		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	24386191		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	BEFREE	29492209		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10528229		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	18329889		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	22586581		★☆☆☆☆ Found in Text Mining only
Differentiated thyroid carcinoma	Thyroid Carcinoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	31022591		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	19716854		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	10693951	Inhibit	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	28590426	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	30046390		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	22302274, 27676246, 28940190		★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	20219210		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	24386191		★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	BEFREE	17973327		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	23744408		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37686416	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	23018215		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	25865020, 37164275	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	37405438	Stimulate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30177815		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	16935322, 21236475, 25296882		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	12860957, 20651610, 20845818		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32323889	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	16832412	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	31404076	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	20853134, 29582409		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	20853134		★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	GENOMICS_ENGLAND_DG	10443680		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	ORPHANET_DG	10443680		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	BEFREE	10876191, 11280716, 15837050, 8579892, 9950371		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
fibroma	Fibroma	BEFREE	31423894		★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	BEFREE	10561084		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	10646882, 16889486		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	19910897		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	20353905	Stimulate	★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	BEFREE	9099963		★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	8481906, 9099963		★☆☆☆☆ Found in Text Mining only
Gastro-enteropancreatic neuroendocrine tumor	Digestive system neuroendocrine neoplasm	BEFREE	29563190		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	40068370	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	11850541, 12692842, 15869870, 16203282, 16294026, 17417711, 17448020, 18486988, 18724244, 19917964, 20651610, 20967481, 21835435, 24117705, 29312652, 31109590, 31244182		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	32669612, 36357104, 38191907	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	23771924, 27781377		★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	BEFREE	29492209		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Tendon Sheath	Giant cell tumor of tendon sheath	Pubtator	33727696	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	34646884	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10728904, 17635673, 17971243, 24270553, 25384085, 29336268		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	17635673		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	17635673, 37951450	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10728904, 17635673, 24270553, 25384085, 28086236, 29336268		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	17447019		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CTD_human_DG	24705251		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	28695888, 29532792, 30220707		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	30171197, 32238360, 32665022, 33749791, 34257579, 37349135, 37503880	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	LHGDN	19169037		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	28888073	Associate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	32781864	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	18287964		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	27415155, 29920189		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	31075180		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	10330344, 10982191, 11071380, 19651702, 21708027, 22302274, 23799134, 25984678, 27265460, 27676246, 28345382, 29054434, 29770739, 30461622, 32807182, 34674383, 34732685, 35263888, 37248554, 38133079, 38241559, 8696348, 9290260	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	LHGDN	16373086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary sensory and autonomic neuropathy type 4	Hereditary Sensory And Autonomic Neuropathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary sensory and autonomic neuropathy type 5	Hereditary Sensory And Autonomic Neuropathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory Autonomic Neuropathy, Type 1	Hereditary sensory and autonomic neuropathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory Autonomic Neuropathy, Type 2	Hereditary sensory and autonomic neuropathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory Autonomic Neuropathy, Type 5	Hereditary sensory and autonomic neuropathy	BEFREE	11310631, 12210794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory Autonomic Neuropathy, Type 5	Hereditary sensory and autonomic neuropathy	ORPHANET_DG	11310631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory Autonomic Neuropathy, Type 5	Hereditary sensory and autonomic neuropathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory Radicular Neuropathy	Hereditary sensory and autonomic neuropathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	10323403, 12652644, 12865274, 23527089, 9760196		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	15677564	Associate	★☆☆☆☆ Found in Text Mining only
HSAN Type IV	Hereditary insensitivity to pain with anhidrosis	UNIPROT_DG	10090906, 10233776, 10330344, 10567924, 10861667, 10982191, 11159935, 11310631, 18077166, 22302274, 27676246, 28177573, 28328124, 8696348		★☆☆☆☆ Found in Text Mining only
HSAN Type IV	Hereditary insensitivity to pain with anhidrosis	GENOMICS_ENGLAND_DG	10090906, 10330344, 10443680, 18077166, 25316729, 28940190		★☆☆☆☆ Found in Text Mining only
HSAN Type IV	Hereditary insensitivity to pain with anhidrosis	BEFREE	10233776, 10330344, 10567924, 10861667, 10982191, 11071380, 11139246, 11159935, 11668614, 11719521, 11748840, 12102460, 12652644, 12949319, 15534759, 15695606, 16138253, 16373086, 18077166, 18322713, 18657423, 19089473, 19201660, 19618435, 20647579, 21387003, 21708027, 22653642, 22957891, 23799134, 24494678, 24631696, 25316729, 25984678, 27184211, 27265460, 27551041, 27676246, 27772781, 28177573, 28192073, 28328124, 28345382, 29407522, 29595626, 29619836, 29770739, 30075136, 30201336, 30677517, 8696348		★☆☆☆☆ Found in Text Mining only
HSAN Type IV	Hereditary insensitivity to pain with anhidrosis	CLINVAR_DG	10330344, 10982191, 11159935, 11668614, 11719521, 12949319, 16373086, 19651702, 26633545, 27551041, 28192073, 8696348		★☆☆☆☆ Found in Text Mining only
HSAN Type IV	Hereditary insensitivity to pain with anhidrosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyperalgesia	Hyperalgesia	Pubtator	10084541	Associate	★☆☆☆☆ Found in Text Mining only
Hyperalgesia	Hyperalgesia	Pubtator	35925599	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	33004339	Associate	★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	BEFREE	18077166		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21042788		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	23058367		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	21178826		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30779268		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	10764711		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	10764711	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	25612511		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	10233776, 27551041, 29619836		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	10233776	Associate	★★★☆☆ 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	36357104	Associate	★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	28778954		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	10673746		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	16275928	Associate	★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	10793082, 15972965, 22998583		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	16138253, 29540150		★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	BEFREE	1354400		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	28269752	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	25340839		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	29553955	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15605394, 23103841, 9175086		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19059881	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	30926971, 31905241, 9949179	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15731354, 18270328, 30926971	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12551822, 15054823, 15289019, 15731354, 16250847, 20159992, 21767516, 22605576, 23017497, 23103841, 23268332, 26462154, 29059168, 29131376, 29920189, 30181385, 31075180, 31109905, 31834935		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	CTD_human_DG	19276553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liposarcoma	Liposarcoma	Pubtator	38531265	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15523689		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22418436, 30582799		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	31605106	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	26216294, 26565381, 35149769	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21466358, 24162815, 28183697, 30115026, 30972901, 32329651, 33168793, 33963267, 34791810, 35085007	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	30115026, 30972901		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	22833165		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29037860	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10738140		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	17673289		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	19797732	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	19716854		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	12121325	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG	24705251		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	30220707, 31420543		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	7735555		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	18991757		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11306479, 11856880, 14565870, 14767486, 15471197, 15735715, 16242838, 16908432, 19118499, 19307182, 19513552, 20056651, 20682714, 20932292, 21350004, 21538107, 22128158, 22184117, 24838231, 27475932, 28591735, 29700210, 30594749		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	14565870, 17175376, 24162815, 27370605, 30116404, 30986992, 31738426, 31761448		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11448924, 31076365, 7557620		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19120874, 19651775, 27936486, 28218045, 29605512		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15948150, 17143529, 20687222, 31619220, 9687989		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11399867		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	11126359, 15605394, 19907326, 29037860, 30253333, 30668525		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22453067, 24880661		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10876191, 11857077, 12455054, 12665646, 12670889, 15605394, 17143529, 17297469, 17635673, 17701904, 18381964, 18952552, 18991757, 19162530, 19364815, 20387311, 20685234, 21102609, 21124078, 21622722, 21829174, 21921942, 22183190, 23103841, 23266446, 23276936, 23523856, 23534715, 24386191, 24715000, 24814316, 24897507, 25011627, 25527197, 25648584, 25803323, 26001971, 26216294, 26565381, 26847636, 27503093, 28342264, 28476569, 28578312, 28591735, 28695888, 28696690, 28751539, 28823053, 28864638, 29486622, 29606586, 29617282, 29880008, 29920189, 30445446, 30459281, 30563058, 31011143, 31072837, 31196931, 31268127, 31331058, 31406350, 31738426, 31738427, 8669836, 8816464, 9326629, 9950371		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22179665, 26001971, 26716414		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10611246, 11306479		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	7735555, 8086622, 9674745		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	11380399, 19804454, 23869086, 29088753, 29643855, 30350746, 31109590		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	Pubtator	23869086	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	12688351		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	10443680, 11883863, 16782438, 18502331, 18756447, 19546050, 21690267, 22183190, 23828865, 24238055, 25972318, 26876062, 28647780, 30106635, 9294615		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	17973327, 18086126, 22782892, 8987776		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	19943845, 27503856, 9420431	Associate	★☆☆☆☆ Found in Text Mining only
Megaesophagus	Megaesophagus	BEFREE	29550999		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15362372, 18305571		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18305571, 21418516, 26496938, 29683819, 31900433, 35457078, 38195702	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19177143, 19802008, 24858900, 24965840, 26496938		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	36672171	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	20014955		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10233776		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	18084259, 21723047		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	16924388		★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	24705251		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	23277131		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	20561151	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	35925599	Associate	★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	30801752		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	22302274, 27676246, 28940190		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	23933118		★☆☆☆☆ Found in Text Mining only
Multiple endocrine neoplasia Type 2	Multiple Endocrine Neoplasia	BEFREE	10876191, 16532227, 20373984, 29348306		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	BEFREE	10876191, 18756447, 20373984, 26920351, 9950371		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2b	Multiple Endocrine Neoplasia	BEFREE	18756447		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	27246973	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	15763921	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	18545673		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	18718936		★☆☆☆☆ Found in Text Mining only
Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic-Myeloproliferative Diseases	BEFREE	15087372		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	22910292		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10528229, 19162530		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	LHGDN	18427551		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	36767649	Associate	★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10074915, 10738140, 11448924, 11468178, 1279432, 1311287, 1369356, 14611676, 15750929, 16242838, 16314485, 16483615, 16618748, 17143529, 17971243, 18991757, 19386345, 19648928, 19883730, 20056651, 20215403, 20651610, 21236475, 21321379, 21474455, 21990266, 22684742, 23746174, 24162815, 24190252, 24758355, 25527197, 2594368, 26216294, 26416732, 26472021, 26563355, 26565381, 26603524, 26892443, 26996670, 27776007, 27936486, 27959446, 28578312, 28870922, 28903424, 29045894, 29118225, 29166513, 29336268, 29563190, 29568395, 29606586, 29750782, 29752549, 29764494, 29802225, 29880008, 29904026, 29920189, 29958731, 30134855, 30220707, 30276762, 30276917, 30333516, 30425456, 30582799, 30592640, 30594749, 30801752, 30840759, 30844834, 30877273, 30920961, 30961514, 30986992, 31017386, 31075511, 31117040, 31372957, 31400924, 31498178, 31614114, 7557620, 7585643, 7590742, 8433391, 8441429, 8844733, 9506724, 9516975, 9872333		★☆☆☆☆ Found in Text Mining only
Nephrosclerosis	Nephrosclerosis	BEFREE	31119846		★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	BEFREE	19943845, 7559588		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10200344, 10462038, 11223544, 1281989, 14691455, 15015775, 15637590, 15737569, 15867224, 16618748, 17941064, 17947461, 17973327, 18678285, 19363525, 19386345, 20003389, 21123453, 21728718, 21829174, 21990266, 23045286, 23047593, 23400852, 24190252, 24839961, 26535632, 28637693, 28791558, 29507419, 29898774, 29959561, 30425456, 30594749, 30776097, 7576942, 7669728, 8264643, 8433391, 8441429, 8481906, 8625212, 9049830, 9099963, 9417044, 9516861, 9781958, 9816308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	10550322, 15386308, 15654083, 15802787, 15961390, 17409494, 18057715, 19016768, 19734938, 20003389, 21109931, 21419569, 21990266, 23047593, 23319303, 23385535, 24477561, 24736663, 26535632, 29507419, 29734136, 29898774, 32216054, 32296437, 37219000, 37664946, 39389992, 7559588, 7604872, 8144393, 8256848, 8264643, 8441429, 8795581, 9099963, 9417044, 9516852	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	LHGDN	14691455		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	CTD_human_DG	16989911		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	33536237, 37984302	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27618740		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28727685		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	10549931		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	12865274, 29118225, 29563190		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	33707600	Associate	★☆☆☆☆ Found in Text Mining only
Neurogenic arthropathy	Neurogenic Arthropathy	BEFREE	30677517		★☆☆☆☆ Found in Text Mining only
Neurogenic arthropathy	Neurogenic Arthropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	28351971		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18293376, 24305878, 24777808, 26565381, 27370605, 29337056, 30640044, 31761448, 9872333		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30562625, 34494934	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	31356878		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	12452857		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28655719		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15093570, 29520051		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24067459	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	11448924		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	11448924, 31076365, 7557620		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19263582, 23746174, 27875625, 38200576	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Pain Insensitivity Congenital	Congenital pain insensitivity	Pubtator	10233776, 19651702, 30461622, 34674383, 34732685, 37248554	Associate	★☆☆☆☆ Found in Text Mining only
Palmar hyperkeratosis	Palmar hyperkeratosis	BEFREE	12949319		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19120874, 19651775, 27936486, 28218045, 29605512		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28218045		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	15870692, 16704535		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	27936486		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27792755, 33755158	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32294802	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	28270361		★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	10561084	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	10561084, 28270361		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	10074915, 10083732, 10216106, 10443680, 10646882, 10741739, 11114633, 11165748, 11216646, 12670889, 1486840, 15273715, 15805251, 15876154, 16181240, 16256137, 16483615, 17131411, 18331611, 19883730, 20640859, 20652698, 20951315, 21339735, 23132790, 24858900, 2594368, 26784937, 29214440, 29606586, 30664823, 7585643, 7590742, 8626874, 9169129, 9172002		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	ORPHANET_DG	19883730, 9169129, 9172002		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	15531916		★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	30362515		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29978273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	BEFREE	18431039, 31423894		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	23799134		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	35405097	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	1849459, 21655256, 9294615, 9506724		★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	18500266		★☆☆☆☆ Found in Text Mining only
Plexiform Neurofibroma	Plexiform neurofibroma	BEFREE	27748759		★☆☆☆☆ Found in Text Mining only
Porphyria Acute Intermittent	Porphyria	Pubtator	30134855	Associate	★☆☆☆☆ Found in Text Mining only
Prion Diseases	Prion disease	Pubtator	23385535	Associate	★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	8833656		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15948150, 16242838, 17143529, 20687222, 31619220, 9687989		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11442674, 35627227, 38200609	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	9406845		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	15743796		★☆☆☆☆ Found in Text Mining only
Psychosis, Brief Reactive	Psychosis	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	CTD_human_DG	14708030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recurrent erosion of cornea	Erosion Of Cornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	9326629		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28416534, 28986088, 9326629		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31736352		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	31119846		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	30131506		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	17973327		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	22457763	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	19620785		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24702788		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Robinow Syndrome	Robinow Syndrome	BEFREE	19918918		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	BEFREE	30801752		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	36610231	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	25274141, 26216294, 26863915, 28416534, 30633925		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	26216294, 32669612, 32957984, 33941195, 34723848, 35238118, 35645621, 37769113, 38065851	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Clear Cell	Sarcoma	Pubtator	32034283	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	27145455, 8256848	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma, Spindle Cell	Sarcoma	BEFREE	26863915		★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	14708030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	19435634, 21223646, 21317683, 28727685, 29464684, 9865928		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	22539856	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophreniform Disorders	Schizophreniform Disorders	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	28889339		★☆☆☆☆ Found in Text Mining only
Seborrheic keratosis	Seborrheic keratosis	BEFREE	19729838		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	19118499, 26563355		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	18486988, 20651610		★☆☆☆☆ Found in Text Mining only
Sensory Neuropathy, Hereditary	Sensory Neuropathy, Hereditary	BEFREE	16373086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensory Neuropathy, Hereditary	Sensory Neuropathy, Hereditary	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	BEFREE	29619836		★☆☆☆☆ Found in Text Mining only
Severe periodontitis	Periodontitis	BEFREE	31423894		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	15313894		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	12452857		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	20457136		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	28270164	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	17667845	Stimulate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	17667845		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	LHGDN	17667845		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	28870922, 7689933		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	27259011		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	15817657	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19729838, 29802376		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29904026, 30360033, 35925599	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23799848, 25255959, 29904026		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11399867		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12854135	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26472021, 35008821	Associate	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	19490633	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	22385957	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	22385957		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	10646882, 19995698, 28052655, 28209747, 29214440, 29606586, 29610391, 30664823, 32187423, 33382403, 35333737, 37003481, 37236546, 37307878	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	11126359, 15605394, 19907326, 23132790, 25384085, 29037860, 30253333, 30668525, 7565764		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	28209747, 29037860	Associate	★☆☆☆☆ Found in Text Mining only
THYROID CARCINOMA, SPORADIC MEDULLARY	Thyroid Carcinoma	BEFREE	12490080, 9617347		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10646882, 11126359, 11216646, 12652644, 16242838, 19766698, 19907326, 19910897, 30253333, 30668525, 9172002, 9516975		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	15273715, 16483615		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	19797732, 22887574, 28013235, 29037860, 29610391, 32457407, 32737449, 33074583, 35015563, 35333737	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	17381488, 22068382		★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	33600668	Inhibit	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	16279365		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26806567, 29969563		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28590426, 31823098	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30445446		★☆☆☆☆ Found in Text Mining only
Venous malformation	Venous malformation	BEFREE	23633549, 30626204		★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	10804089		★☆☆☆☆ Found in Text Mining only