SRC (SRC proto-oncogene, non-receptor tyrosine kinase)

Gene

• Entrez ID: 6714
• Gene name: SRC proto-oncogene, non-receptor tyrosine kinase
• Gene symbol: SRC
• Synonyms (NCBI Gene): ASV, SRC1, THC6, c-SRC, p60-Src
• Chromosome: 20
• Chromosome location: 20q11.23
• Summary: This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121913314	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs879255268	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007051	hsa-miR-23b-3p	Luciferase reporter assay	23074286
MIRT007357	hsa-miR-33a-5p	Immunofluorescence, Luciferase reporter assay, Western blot	23547260
MIRT007357	hsa-miR-33a-5p	Immunofluorescence, Luciferase reporter assay, Western blot	23547260
MIRT024971	hsa-miR-205-5p	Reporter assay	21330408
MIRT053284	hsa-miR-203a-3p	Immunoprecipitaion, qRT-PCR, Western blot	23462723
MIRT053284	hsa-miR-203a-3p	Microarray	23807165
MIRT053592	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23790975
MIRT053284	hsa-miR-203a-3p	Luciferase reporter assay, qRT-PCR, Western blot	23790975
MIRT053750	hsa-miR-31-5p	Immunoblot, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	22948084
MIRT053592	hsa-miR-34a-5p	Immunoblot, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR	23533633
MIRT054922	hsa-miR-33b-5p	Luciferase reporter assay, qRT-PCR	23716591
MIRT053592	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26676753
MIRT053592	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26676753
MIRT053592	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26676753
MIRT755589	hsa-miR-5703	Luciferase reporter assay, Western blotting, qRT-PCR, Immunohistochemistry (IHC), Immunofluorescence	34976193
MIRT1387602	hsa-miR-1207-5p	CLIP-seq
MIRT1387603	hsa-miR-1208	CLIP-seq
MIRT1387604	hsa-miR-1225-5p	CLIP-seq
MIRT1387605	hsa-miR-1253	CLIP-seq
MIRT1387606	hsa-miR-1283	CLIP-seq
MIRT1387607	hsa-miR-141	CLIP-seq
MIRT1387608	hsa-miR-1976	CLIP-seq
MIRT1387609	hsa-miR-200a	CLIP-seq
MIRT1387610	hsa-miR-2355-5p	CLIP-seq
MIRT1387611	hsa-miR-2964a-5p	CLIP-seq
MIRT1387612	hsa-miR-3189-3p	CLIP-seq
MIRT1387613	hsa-miR-3667-3p	CLIP-seq
MIRT1387614	hsa-miR-3918	CLIP-seq
MIRT1387615	hsa-miR-3945	CLIP-seq
MIRT1387616	hsa-miR-4253	CLIP-seq
MIRT1387617	hsa-miR-4286	CLIP-seq
MIRT1387618	hsa-miR-4434	CLIP-seq
MIRT1387619	hsa-miR-4512	CLIP-seq
MIRT1387620	hsa-miR-4516	CLIP-seq
MIRT1387621	hsa-miR-4736	CLIP-seq
MIRT1387622	hsa-miR-4757-5p	CLIP-seq
MIRT1387623	hsa-miR-4763-3p	CLIP-seq
MIRT1387624	hsa-miR-555	CLIP-seq
MIRT1387625	hsa-miR-635	CLIP-seq
MIRT1387626	hsa-miR-1	CLIP-seq
MIRT1387627	hsa-miR-1204	CLIP-seq
MIRT1387603	hsa-miR-1208	CLIP-seq
MIRT1387628	hsa-miR-1225-3p	CLIP-seq
MIRT1387604	hsa-miR-1225-5p	CLIP-seq
MIRT1387629	hsa-miR-1233	CLIP-seq
MIRT1387605	hsa-miR-1253	CLIP-seq
MIRT1387606	hsa-miR-1283	CLIP-seq
MIRT1387630	hsa-miR-1299	CLIP-seq
MIRT1387607	hsa-miR-141	CLIP-seq
MIRT1387631	hsa-miR-184	CLIP-seq
MIRT1387609	hsa-miR-200a	CLIP-seq
MIRT1387632	hsa-miR-206	CLIP-seq
MIRT1387633	hsa-miR-2110	CLIP-seq
MIRT1387634	hsa-miR-214	CLIP-seq
MIRT1387635	hsa-miR-3136-5p	CLIP-seq
MIRT1387636	hsa-miR-3173-3p	CLIP-seq
MIRT1387612	hsa-miR-3189-3p	CLIP-seq
MIRT1387637	hsa-miR-338-5p	CLIP-seq
MIRT1387638	hsa-miR-342-5p	CLIP-seq
MIRT1387639	hsa-miR-346	CLIP-seq
MIRT1387640	hsa-miR-3605-3p	CLIP-seq
MIRT1387641	hsa-miR-3619-5p	CLIP-seq
MIRT1387642	hsa-miR-3673	CLIP-seq
MIRT1387643	hsa-miR-3690	CLIP-seq
MIRT1387644	hsa-miR-378	CLIP-seq
MIRT1387645	hsa-miR-378b	CLIP-seq
MIRT1387646	hsa-miR-378c	CLIP-seq
MIRT1387647	hsa-miR-378d	CLIP-seq
MIRT1387648	hsa-miR-378e	CLIP-seq
MIRT1387649	hsa-miR-378f	CLIP-seq
MIRT1387650	hsa-miR-378h	CLIP-seq
MIRT1387651	hsa-miR-378i	CLIP-seq
MIRT1387614	hsa-miR-3918	CLIP-seq
MIRT1387615	hsa-miR-3945	CLIP-seq
MIRT1387652	hsa-miR-3973	CLIP-seq
MIRT1387653	hsa-miR-422a	CLIP-seq
MIRT1387616	hsa-miR-4253	CLIP-seq
MIRT1387654	hsa-miR-4254	CLIP-seq
MIRT1387655	hsa-miR-4271	CLIP-seq
MIRT1387656	hsa-miR-4276	CLIP-seq
MIRT1387657	hsa-miR-4288	CLIP-seq
MIRT1387658	hsa-miR-4419a	CLIP-seq
MIRT1387618	hsa-miR-4434	CLIP-seq
MIRT1387659	hsa-miR-4439	CLIP-seq
MIRT1387660	hsa-miR-4459	CLIP-seq
MIRT1387661	hsa-miR-4510	CLIP-seq
MIRT1387619	hsa-miR-4512	CLIP-seq
MIRT1387662	hsa-miR-4514	CLIP-seq
MIRT1387620	hsa-miR-4516	CLIP-seq
MIRT1387663	hsa-miR-4533	CLIP-seq
MIRT1387664	hsa-miR-4651	CLIP-seq
MIRT1387665	hsa-miR-4664-5p	CLIP-seq
MIRT1387666	hsa-miR-4685-5p	CLIP-seq
MIRT1387667	hsa-miR-4690-5p	CLIP-seq
MIRT1387668	hsa-miR-4692	CLIP-seq
MIRT1387669	hsa-miR-4695-5p	CLIP-seq
MIRT1387670	hsa-miR-4699-3p	CLIP-seq
MIRT1387671	hsa-miR-4725-3p	CLIP-seq
MIRT1387672	hsa-miR-4731-5p	CLIP-seq
MIRT1387673	hsa-miR-4747-5p	CLIP-seq
MIRT1387674	hsa-miR-4751	CLIP-seq
MIRT1387675	hsa-miR-4765	CLIP-seq
MIRT1387676	hsa-miR-4779	CLIP-seq
MIRT1387677	hsa-miR-4782-5p	CLIP-seq
MIRT1387678	hsa-miR-4795-5p	CLIP-seq
MIRT1387679	hsa-miR-4804-5p	CLIP-seq
MIRT1387680	hsa-miR-491-5p	CLIP-seq
MIRT1387681	hsa-miR-516b	CLIP-seq
MIRT1387682	hsa-miR-518a-5p	CLIP-seq
MIRT1387683	hsa-miR-527	CLIP-seq
MIRT1387684	hsa-miR-548k	CLIP-seq
MIRT1387685	hsa-miR-548l	CLIP-seq
MIRT1387624	hsa-miR-555	CLIP-seq
MIRT1387686	hsa-miR-608	CLIP-seq
MIRT1387687	hsa-miR-613	CLIP-seq
MIRT1387688	hsa-miR-632	CLIP-seq
MIRT1387625	hsa-miR-635	CLIP-seq
MIRT1387689	hsa-miR-654-3p	CLIP-seq
MIRT1387690	hsa-miR-665	CLIP-seq
MIRT1387691	hsa-miR-720	CLIP-seq
MIRT1387692	hsa-miR-759	CLIP-seq
MIRT1387693	hsa-miR-760	CLIP-seq
MIRT1387694	hsa-miR-761	CLIP-seq
MIRT1387695	hsa-miR-940	CLIP-seq
MIRT1387696	hsa-miR-943	CLIP-seq
MIRT1387602	hsa-miR-1207-5p	CLIP-seq
MIRT1387623	hsa-miR-4763-3p	CLIP-seq
MIRT1387602	hsa-miR-1207-5p	CLIP-seq
MIRT2116133	hsa-miR-1254	CLIP-seq
MIRT2116134	hsa-miR-1281	CLIP-seq
MIRT2116135	hsa-miR-2682	CLIP-seq
MIRT2116136	hsa-miR-3064-3p	CLIP-seq
MIRT2116137	hsa-miR-3116	CLIP-seq
MIRT1387614	hsa-miR-3918	CLIP-seq
MIRT2116138	hsa-miR-449c	CLIP-seq
MIRT2116139	hsa-miR-4707-3p	CLIP-seq
MIRT2116140	hsa-miR-4714-5p	CLIP-seq
MIRT1387623	hsa-miR-4763-3p	CLIP-seq
MIRT2116141	hsa-miR-486-3p	CLIP-seq
MIRT1387695	hsa-miR-940	CLIP-seq
MIRT2338550	hsa-miR-153	CLIP-seq
MIRT2338551	hsa-miR-1909	CLIP-seq
MIRT1387634	hsa-miR-214	CLIP-seq
MIRT1387641	hsa-miR-3619-5p	CLIP-seq
MIRT1387655	hsa-miR-4271	CLIP-seq
MIRT1387663	hsa-miR-4533	CLIP-seq
MIRT2338552	hsa-miR-4643	CLIP-seq
MIRT1387671	hsa-miR-4725-3p	CLIP-seq
MIRT1387673	hsa-miR-4747-5p	CLIP-seq
MIRT2338553	hsa-miR-4789-3p	CLIP-seq
MIRT1387694	hsa-miR-761	CLIP-seq
MIRT2395146	hsa-miR-10a	CLIP-seq
MIRT2395147	hsa-miR-10b	CLIP-seq
MIRT1387610	hsa-miR-2355-5p	CLIP-seq
MIRT1387614	hsa-miR-3918	CLIP-seq
MIRT2395148	hsa-miR-4267	CLIP-seq
MIRT1387619	hsa-miR-4512	CLIP-seq
MIRT2395149	hsa-miR-4690-3p	CLIP-seq
MIRT2632121	hsa-miR-1236	CLIP-seq
MIRT1387608	hsa-miR-1976	CLIP-seq
MIRT2632122	hsa-miR-3180-5p	CLIP-seq
MIRT2632123	hsa-miR-4279	CLIP-seq
MIRT2632124	hsa-miR-4326	CLIP-seq
MIRT2632125	hsa-miR-520a-5p	CLIP-seq
MIRT2632126	hsa-miR-525-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	19112177
TAF1	Unknown	14993269

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	21531765
GO:0000166	Function	Nucleotide binding	IEA
GO:0002102	Component	Podosome	IEA
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0002283	Process	Neutrophil activation involved in immune response	ISS
GO:0002376	Process	Immune system process	IEA
GO:0002862	Process	Negative regulation of inflammatory response to antigenic stimulus	IEA
GO:0002862	Process	Negative regulation of inflammatory response to antigenic stimulus	TAS
GO:0004672	Function	Protein kinase activity	IDA	18616680, 25501895
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	EXP	1381360, 9799234, 10861086, 11448999, 12923167, 15735019, 16921024, 17030621, 18697750, 20100835
GO:0004713	Function	Protein tyrosine kinase activity	IDA	16441665, 19059439, 19307596, 34234773, 35927303
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IMP	20624904, 25425738, 26598555
GO:0004713	Function	Protein tyrosine kinase activity	NAS	28386764
GO:0004713	Function	Protein tyrosine kinase activity	TAS	9020193
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IBA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IDA	11606584, 33963050
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IEA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	NAS	20018849
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	TAS	19267251
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005102	Function	Signaling receptor binding	IPI	19332538
GO:0005178	Function	Integrin binding	IPI	19141530
GO:0005178	Function	Integrin binding	TAS	19267251
GO:0005515	Function	Protein binding	IPI	7478590, 7537265, 8070403, 8681387, 8849729, 9148935, 9162084, 9600099, 9763511, 10521452, 10542110, 10698938, 10801826, 11007774, 11149930, 11741929, 11923305, 11940572, 12509223, 12857726, 14963108, 15143158, 15546919, 15735685, 15749833, 15866871, 16115959, 16169070, 16273093, 162
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	16441665
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	19767770
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	12615910
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005764	Component	Lysosome	IDA	20605918
GO:0005770	Component	Late endosome	IDA	20605918
GO:0005829	Component	Cytosol	IDA	19767770
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20605918
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005901	Component	Caveola	IDA	17848177
GO:0005901	Component	Caveola	IEA
GO:0005911	Component	Cell-cell junction	IDA	22294297
GO:0005925	Component	Focal adhesion	IEA
GO:0005925	Component	Focal adhesion	ISS
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007165	Process	Signal transduction	TAS	9020193, 10734107
GO:0007172	Process	Signal complex assembly	TAS	9924018
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IBA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	TAS
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IMP	24036928
GO:0007229	Process	Integrin-mediated signaling pathway	IMP	24036928
GO:0010632	Process	Regulation of epithelial cell migration	IMP	21724833
GO:0010634	Process	Positive regulation of epithelial cell migration	IMP	18054784
GO:0010954	Process	Positive regulation of protein processing	IEA
GO:0016004	Function	Phospholipase activator activity	IDA	11606584
GO:0016020	Component	Membrane	IEA
GO:0016236	Process	Macroautophagy	TAS
GO:0016301	Function	Kinase activity	IEA
GO:0016477	Process	Cell migration	IEA
GO:0016579	Process	Protein deubiquitination	IDA	35927303
GO:0016740	Function	Transferase activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	22732588
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IMP	20624904, 25425738
GO:0019899	Function	Enzyme binding	IPI	21724833
GO:0019904	Function	Protein domain specific binding	IEA
GO:0020037	Function	Heme binding	IDA	21036157
GO:0022407	Process	Regulation of cell-cell adhesion	IMP	21724833
GO:0030054	Component	Cell junction	IDA
GO:0030154	Process	Cell differentiation	IBA
GO:0030168	Process	Platelet activation	TAS
GO:0030296	Function	Protein tyrosine kinase activator activity	NAS	20018849
GO:0030546	Function	Signaling receptor activator activity	ISS
GO:0030900	Process	Forebrain development	IEA
GO:0031295	Process	T cell costimulation	IEA
GO:0031295	Process	T cell costimulation	TAS
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IMP	19767770
GO:0031648	Process	Protein destabilization	IEA
GO:0031669	Process	Cellular response to nutrient levels	IDA	12747827, 29750193
GO:0032205	Process	Negative regulation of telomere maintenance	IMP	21531765
GO:0032587	Component	Ruffle membrane	IEA
GO:0033146	Process	Regulation of intracellular estrogen receptor signaling pathway	IEA
GO:0033625	Process	Positive regulation of integrin activation	TAS	19267251
GO:0034138	Process	Toll-like receptor 3 signaling pathway	IDA	12471095, 18172197
GO:0034139	Process	Regulation of toll-like receptor 3 signaling pathway	IDA	37158982
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IEA
GO:0034614	Process	Cellular response to reactive oxygen species	IEA
GO:0034614	Process	Cellular response to reactive oxygen species	IEA
GO:0034614	Process	Cellular response to reactive oxygen species	IMP	25501895
GO:0035255	Function	Ionotropic glutamate receptor binding	ISS
GO:0035306	Process	Positive regulation of dephosphorylation	IDA	23159740
GO:0035331	Process	Negative regulation of hippo signaling	IMP	33162394
GO:0035556	Process	Intracellular signal transduction	IDA	15248232, 26598555
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	IMP	11606584, 26706435
GO:0035556	Process	Intracellular signal transduction	TAS	9020193
GO:0036035	Process	Osteoclast development	IEA
GO:0036120	Process	Cellular response to platelet-derived growth factor stimulus	IEA
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	IEA
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0038128	Process	ERBB2 signaling pathway	TAS
GO:0038166	Process	Angiotensin-activated signaling pathway	IEA
GO:0038166	Process	Angiotensin-activated signaling pathway	ISS
GO:0038202	Process	TORC1 signaling	IDA	12747827, 29750193
GO:0042169	Function	SH2 domain binding	IPI	8070403
GO:0042311	Process	Vasodilation	IMP	26706435
GO:0042476	Process	Odontogenesis	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	19767770
GO:0043114	Process	Regulation of vascular permeability	IEA
GO:0043114	Process	Regulation of vascular permeability	TAS	19267251
GO:0043149	Process	Stress fiber assembly	IMP	24036928
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	35927303
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	ISS
GO:0043274	Function	Phospholipase binding	IPI	11606584
GO:0044325	Function	Transmembrane transporter binding	IPI	8953041, 12538589
GO:0045121	Component	Membrane raft	ISS
GO:0045124	Process	Regulation of bone resorption	TAS	19267251
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045453	Process	Bone resorption	IEA
GO:0045453	Process	Bone resorption	ISS
GO:0045747	Process	Positive regulation of Notch signaling pathway	IDA	25731159
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045821	Process	Positive regulation of glycolytic process	IEA
GO:0046718	Process	Symbiont entry into host cell	TAS
GO:0046777	Process	Protein autophosphorylation	IDA	16441665
GO:0046875	Function	Ephrin receptor binding	IEA
GO:0046875	Function	Ephrin receptor binding	IPI	12925710
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	TAS
GO:0048013	Process	Ephrin receptor signaling pathway	IEA
GO:0048013	Process	Ephrin receptor signaling pathway	TAS
GO:0048041	Process	Focal adhesion assembly	IMP	21411625
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	19307596
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0050847	Process	Progesterone receptor signaling pathway	IBA
GO:0050847	Process	Progesterone receptor signaling pathway	ISS
GO:0050900	Process	Leukocyte migration	TAS
GO:0051057	Process	Positive regulation of small GTPase mediated signal transduction	IMP	18541665
GO:0051117	Function	ATPase binding	ISS
GO:0051219	Function	Phosphoprotein binding	IPI	16441665
GO:0051895	Process	Negative regulation of focal adhesion assembly	ISS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	19767770
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS
GO:0051902	Process	Negative regulation of mitochondrial depolarization	IMP	19767770
GO:0060065	Process	Uterus development	IEA
GO:0060444	Process	Branching involved in mammary gland duct morphogenesis	IEA
GO:0060491	Process	Regulation of cell projection assembly	IEA
GO:0060576	Process	Intestinal epithelial cell development	IDA	25731159
GO:0060576	Process	Intestinal epithelial cell development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337
GO:0070102	Process	Interleukin-6-mediated signaling pathway	IDA	25731159
GO:0070102	Process	Interleukin-6-mediated signaling pathway	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070555	Process	Response to interleukin-1	IMP	19281832
GO:0070700	Function	BMP receptor binding	IPI	26598555
GO:0071253	Function	Connexin binding	IEA
GO:0071375	Process	Cellular response to peptide hormone stimulus	IEA
GO:0071375	Process	Cellular response to peptide hormone stimulus	ISS
GO:0071393	Process	Cellular response to progesterone stimulus	ISS
GO:0071498	Process	Cellular response to fluid shear stress	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0071803	Process	Positive regulation of podosome assembly	IEA
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	IDA	19059439
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IEA
GO:0086091	Process	Regulation of heart rate by cardiac conduction	ISS
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:0097110	Function	Scaffold protein binding	IEA
GO:0097110	Function	Scaffold protein binding	IPI	25006397
GO:1900182	Process	Positive regulation of protein localization to nucleus	IEA
GO:1902564	Process	Negative regulation of neutrophil activation	IDA	34234773
GO:1902564	Process	Negative regulation of neutrophil activation	IDA	34234773
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	35927303
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	35927303
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	35927303
GO:2000394	Process	Positive regulation of lamellipodium morphogenesis	IMP	18054784
GO:2000588	Process	Positive regulation of platelet-derived growth factor receptor-beta signaling pathway	IEA
GO:2000641	Process	Regulation of early endosome to late endosome transport	IMP	21724833
GO:2000811	Process	Negative regulation of anoikis	IMP	22402981
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IBA
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IMP	19767770
GO:2001243	Process	Negative regulation of intrinsic apoptotic signaling pathway	IBA
GO:2001243	Process	Negative regulation of intrinsic apoptotic signaling pathway	IMP	19767770
GO:2001286	Process	Regulation of caveolin-mediated endocytosis	IMP	21724833

Other IDs

• MIM: 190090
• HGNC: 11283
• e!Ensembl: ENSG00000197122

Protein

• UniProt ID: P12931
• Protein name: Proto-oncogene tyrosine-protein kinase Src (EC 2.7.10.2) (Proto-oncogene c-Src) (pp60c-src) (p60-Src)
• Protein function: Non-receptor protein tyrosine kinase which is activated following engagement of many different classes of cellular receptors including immune response receptors, integrins and other adhesion receptors, receptor protein tyrosine kinases, G protei
• PDB: 1A07, 1A08, 1A09, 1A1A, 1A1B, 1A1C, 1A1E, 1FMK, 1HCS, 1HCT, 1KSW, 1O41, 1O42, 1O43, 1O44, 1O45, 1O46, 1O47, 1O48, 1O49, 1O4A, 1O4B, 1O4C, 1O4D, 1O4E, 1O4F, 1O4G, 1O4H, 1O4I, 1O4J, 1O4K, 1O4L, 1O4M, 1O4N, 1O4O, 1O4P, 1O4Q, 1O4R, 1SHD, 1Y57, 1YI6, 1YOJ, 1YOL, 1YOM, 2BDF, 2BDJ, 2H8H, 2SRC, 3VRO, 3ZMP, 3ZMQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00018	SH3_1	90 → 137	SH3 domain	Domain
  PF00017	SH2	151 → 233	SH2 domain	Domain
  PF07714	PK_Tyr_Ser-Thr	270 → 519	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed ubiquitously. Expressed in the skin (at protein level) (PubMed:22294297). Platelets, neurons and osteoclasts express 5-fold to 200-fold higher levels than most other tissues. {ECO:0000269|PubMed:22294297}.; TISSUE SPECIFICITY
• Sequence:

  MGSNKSKPKDASQRRRSLEPAENVHGAGGGAFPASQTPSKPASADGHRGPSAAFAPAAAE
  PKLFGGFNSSDTVTSPQRAGPLAGGVTTFVALYDYESRTETDLSFKKGERLQIVNNTEGD
  WWLAHSLSTGQTGYIPSNYVAPSDSIQAEEWYFGKITRRESERLLLNAENPRGTFLVRES
  ETTKGAYCLSVSDFDNAKGLNVKHYKIRKLDSGGFYITSRTQFNSLQQLVAYYSKHADGL
  CHRLTTVCPTSKPQTQGLAKDAWEIPRESLRLEVKLGQGCFGEVWMGTWNGTTRVAIKTL
  KPGTMSPEAFLQEAQVMKKLRHEKLVQLYAVVSEEPIYIVTEYMSKGSLLDFLKGETGKY
  LRLPQLVDMAAQIASGMAYVERMNYVHRDLRAANILVGENLVCKVADFGLARLIEDNEYT
  ARQGAKFPIKWTAPEAALYGRFTIKSDVWSFGILLTELTTKGRVPYPGMVNREVLDQVER
  GYRMPCPPECPESLHDLMCQCWRKEPEERPTFEYLQAFLEDYFTSTEPQYQPGENL

• Sequence length: 536

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
Colon cancer, advanced	Pathogenic	rs121913314	RCV000013401	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteoporosis	Likely pathogenic	rs879255268	RCV001003535	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary myelofibrosis	Likely pathogenic	rs879255268	RCV001003535	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Likely pathogenic	rs879255268	RCV001003535	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia 6	Likely pathogenic	rs879255268	RCV000211002	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	ClinVar, HPO ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SRC-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	24126923, 27756880, 29443392		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21623279, 26096453, 31777985		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	22200682		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	18351644		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	31633491		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	30205043		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	31633491		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26519433, 32812532, 34686734, 37010714	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	28539470, 37682161	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	16891307		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	24994118		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	15579525		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	22261810		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	22761868	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29163012		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29163012		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	31633491		★☆☆☆☆ Found in Text Mining only
Arterial Tortuosity Syndrome	Arterial tortuosity syndrome	Pubtator	26376865	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	18062965, 24385683	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12105209, 17963503, 23918525	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	20963570, 22142990, 2992677		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	22142990, 37402091	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	11315256	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	16322069		★☆☆☆☆ Found in Text Mining only
Atlantoaxial instability	Atlantoaxial abnormality	BEFREE	27771789		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	21703394	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	23333377		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	CTD_human_DG	18385429		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	17496201, 18158072, 18401881, 22895079, 25842192, 25979368		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31442237		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	1398227, 23142123	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	30061836		★☆☆☆☆ Found in Text Mining only
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	40045897	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	11723127, 17093206		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	17077147		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	20563533, 29297721, 31204551	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	GENOMICS_ENGLAND_DG	26936507		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	20565769, 21741415, 31204551	Associate	★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	25725252	Associate	★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	38402724	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	2992677		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	36460775	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11559575, 12643853, 12941830, 15788656, 17804726, 19075780, 19707857, 20145129, 20392877, 21059860, 21343398, 21724833, 22072566, 22419892, 24648347, 24719557, 25533622, 26082485, 28638122, 29263157, 29348460, 29367763, 29382358, 29684708, 30389401, 30446625, 30532986, 31430896		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21357651		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11007774, 11315256, 11859072, 11875716, 12122014, 14629195, 14704150, 15031291, 15452162, 15743500, 16267617, 17060931, 17074804, 17121430, 17142325, 17531096, 17572360, 17627304, 17699109, 17997837, 18183590, 18332219, 18550772, 19018258, 19095746, 19364917, 19372587, 19543320, 19573804, 19573813, 19638211, 19762712, 19830888, 20193126, 20843787, 20861240, 21063412, 21281808, 21710320, 21822308, 21860415, 21884573, 21897387, 22002538, 22085699, 22306580, 22426783, 22457730, 22658320, 22927910, 23532252, 23615537, 23637902, 23704208, 24200972, 24282087, 24486401, 25328014, 25533622, 25706943, 25871389, 25927147, 25973915, 26041409, 26066330, 26114632, 26549256, 26729407, 27094578, 27308830, 27626181, 27773611, 28036386, 28050799, 28356423, 29530003, 29728589, 30076704, 30420728, 30896874, 31113938, 31819039, 32358373, 32502618, 32582965, 32673341, 33731709, 33925065, 35085554, 36144682, 36229838, 36266450, 36795481, 36882618, 37906431, 39178760, 39780215	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	17254967, 19583841	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	32171300	Associate	★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	7678608		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19948031, 20028973, 20080707, 21050441, 21822308, 22383989, 23585863, 24196445, 25149476, 30092789, 33771982, 37257767	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25679223, 29453318	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	1280033, 16894533, 17363590, 2110550, 31731442, 6403227		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	19318475, 25028927, 25779657	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	27197167	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15777850, 16891307, 20028973, 21725161, 25428919, 25943101, 25958313, 25978354, 27999817, 31732298, 32335258, 33794926, 34335982, 35452485, 38179744, 39406114, 40612868	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	40650282	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	17060931	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	19583841	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16740687, 20709421, 25140799, 26390252, 29937990, 31166114, 31815763		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	20682659, 21841817, 22261810	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	21632985, 25187556, 26406598, 26911335, 29984342, 31181623, 31217736	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	18327819, 23696930, 26908436, 27323814	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	22353809	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23778325	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	24385683	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37268894	Associate	★☆☆☆☆ Found in Text Mining only
Cherubism	Cherubism	LHGDN	16465417		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	30205043		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	30405769		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34971568, 36154723	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	23758266		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	23922104, 23959473, 24992595, 25390068	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	7690441		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	24111605, 29074542		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	27348464		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32812532	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	CTD_human_DG	17551092		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colitis Ulcerative	Ulcerative colitis	Pubtator	37078344, 37960728, 7509341	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	7509341	Stimulate	★☆☆☆☆ Found in Text Mining only
COLON CANCER, ADVANCED, SOMATIC	Colon Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10704743, 11161376, 12820418, 18351644, 24714091, 25301722, 27990641, 28810597, 29581735, 9988270		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	11900220, 25301365, 29135089, 7739521	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	LHGDN	12939401, 17934522, 17974954, 18839319		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	14569062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	BEFREE	15060621		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	7509341	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10485460, 11161376, 18351644, 22710723, 23023324, 23900414, 25973543, 27562229, 28746882, 28810597, 28939028, 30792536, 31208298, 7478590		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10373450, 10804287, 11161376, 11900220, 12402152, 15075377, 15326164, 15818752, 16432186, 16619028, 17572360, 17898132, 18035832, 18086662, 18183590, 20010872, 20532039, 20943948, 21968138, 22308320, 22901200, 22941059, 23167414, 23451189, 23533633, 23900414, 24173967, 24407236, 24457997, 24714091, 25122478, 25208577, 25301722, 25973543, 26056802, 27742576, 28186967, 28624785, 28746882, 29135089, 29693170, 29740162, 30158525, 30792536, 30877754, 30965609, 33837725, 34582006, 34997428, 35012354, 35272617, 36759733, 36923538, 37031206, 37047623, 37103072, 37347740, 7678609, 8695359	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11163360, 7509341	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17804738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27562229	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	16600505		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	20374707, 2506951		★☆☆☆☆ Found in Text Mining only
Congenital Osteopetrosis	Congenital Osteopetrosis	BEFREE	7688650		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29577277		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	BEFREE	24652666		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	31222168		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31222168		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	31222168	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31222168		★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	7678608		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	25990246	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	31432326		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	21654685		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	11872746, 12506110, 14681029	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 53	Deafness	Pubtator	33925065	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	29498756	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25302671	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	37985432	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	23701402		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	23701402		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	30130562		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	15452162, 19018258, 19830888, 32084531	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	36266450, 37906431	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	10804287, 14601091, 19439667, 20668024, 29963728, 30719151		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	14601091		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	10804287, 21058027, 37257767	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	25297546, 29636364		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28273943	Inhibit	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	35349645	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	31830556		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	31289489		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	31442237		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	19120899, 31391186		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	19120899, 31391186		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25684946, 29034995	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29867084, 31815134	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	27037775		★☆☆☆☆ Found in Text Mining only
Familial primary pulmonary hypertension	Pulmonary Hypertension	BEFREE	25411245, 28084316		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	20124487		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	19417561		★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	24550004, 9804773		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	15618223		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	15618223, 22323579, 26857460, 33841333, 34232320, 36460775, 38376284	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15994925, 19690143, 26700818, 28939749, 30207834		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15994925, 19690143, 26700818, 28939749, 29553850, 30207834		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17572360, 17855624, 21878501, 22313687, 24879377, 28422726, 33833498, 34681583, 35862252, 39780215	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18339867		★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	38097740	Associate	★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	15531725		★☆☆☆☆ Found in Text Mining only
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	16600505		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	27798955, 31382448		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	23213056	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	25779657	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	26339408	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	37268894	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28399411		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	31204551	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary thrombocytopenia with early-onset myelofibrosis	Hereditary Thrombocytopenia With Myelofibrosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30089865		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20532039, 21408136, 27566104, 35338412	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23122428	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	25411245, 30846469		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	37070487	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	35452485	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	32651353	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	28939028		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	27231123		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	35643225	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	23400592		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29862277		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	21330408, 39780215	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	35349645	Associate	★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	25028927		★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	25028927		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	25028927	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	HPO_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	14562045		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15781338, 21447799, 2506951	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17077147, 18158072, 19013641, 24490604, 27758892		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	2413444	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24412064, 24858343, 31411110, 37070487	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23896410		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	25028927		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	28882999		★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	20863376, 29190494	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15276210, 26122373, 30292831, 30405769, 31293639, 31307202, 31802035		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15777850, 17224200		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	27348464		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	30471152	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	LHGDN	15276210		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	28454121	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19491201, 20353998, 22178655, 23122428, 23319332, 23866081, 25140799, 25820822, 28068967, 28454121, 29132432, 29459573, 30925742, 34205482, 34427969, 35643725	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	20541700		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	36335193	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18327819, 27999817, 28454121	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29135089	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	7690441		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	29567799		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	29567799		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	25028927		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	27798955, 31382448		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	21785466		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11559575, 12643853, 12941830, 15788656, 17804726, 19075780, 19707857, 20145129, 20392877, 21059860, 21343398, 21724833, 22072566, 22419892, 24648347, 24719557, 25533622, 26082485, 28638122, 29263157, 29348460, 29367763, 29382358, 29684708, 30389401, 30446625, 30532986, 31430896, 9252329		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21357651		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	19439667, 30719151		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	19120899, 31391186		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30405769, 31307202		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16740687, 19491201, 23319332, 25140799, 26390252, 29937990, 31166114		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22761868, 24763074, 29978609, 30553276, 30866697, 31289489, 31371279		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15663989, 16140968, 16894533, 23886194, 23974361, 24403252, 24817628, 26082485, 26201947, 26624980, 30365107, 30532986		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24492292, 26460485		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	22521882		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	11723127, 17093206		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11489729, 15060621, 15276210, 16140968, 17363590, 18381431, 20374707, 21521831, 22246246, 22419892, 22673740, 22898541, 22984562, 23559371, 23790975, 23933257, 25326682, 25533622, 25973543, 26549256, 26619122, 26848862, 27037775, 28611048, 28939749, 29324735, 29567811, 29726962, 29739791, 29899407, 3070044, 30709881, 30809968, 31731442		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10485460, 10704743, 10804287, 11161376, 1280033, 12820418, 18351644, 24714091, 25301722, 27990641, 28810597, 29581735, 9988270		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	14569062		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21357651		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11108862, 20159552, 20392877, 21343398, 26549256, 9531474		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12216109, 12907754, 15467744, 16377083, 16412380, 16728403, 17849451, 18550772		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21357651		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21357651		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	15746253		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	23497290, 36849558	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	30205043		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	12592021, 16371504, 16741510, 16798740, 18596671, 20796316, 21863025, 22127285, 22241959, 22310287, 22568947, 26740622, 31101498, 31416844, 33405952, 35208960, 36305167, 37963252	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	1697409, 17363590, 21654685, 23242808, 27966446, 28584020, 31040916, 31547367		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21654685	Stimulate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	LHGDN	17620427		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	21785466		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	18096084, 27391433	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	21291860, 26919242, 32183030, 34318593, 38250159	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	24652666		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26421357	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	23469041	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17077147, 17138817, 18158072, 18397680, 20673586, 25842192, 26537529, 28157629, 28821556		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	28817606		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29393436, 30973923		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	29393436	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	17060931	Stimulate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	32502618	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11163360, 11559575, 15060621, 16140968, 16762838, 1698545, 17317820, 18351644, 18538730, 19838047, 21080969, 2110550, 21724833, 22072566, 22200682, 22261810, 22267211, 22419892, 22695118, 23023324, 23580575, 23851499, 24403252, 24735923, 24994118, 2506951, 25140799, 25301722, 25517315, 26676753, 26740498, 26804638, 27286795, 27513473, 28157629, 28399411, 28423620, 28427224, 28670978, 28939028, 29137373, 29190494, 29271182, 29403080, 29710216, 30205043, 30219970, 3029760, 30705430, 30720086, 30792536, 31308216, 31633491, 31731442, 31841591, 7690441, 9988224		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	34873575	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25909165	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	1698545, 18089800, 2470006, 2830484, 2917804, 30262428		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	17828307, 19885861, 21050441, 2414774, 27821809, 2830484, 30020827, 31406249	Associate	★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	1698545		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	28427224		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	Pubtator	28427224	Inhibit	★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	16600505		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20709421, 24123009, 24126923, 24911146, 26740498, 27372519, 27756880, 29937990, 31166114, 31428570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	29077881		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30658193	Stimulate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	29263157, 29567811		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	17963503	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	22174377, 28739641		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	7688650		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28739641		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteoporosis	Osteoporosis	Pubtator	36937804	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteosarcoma	Osteosarcoma	Pubtator	25725252, 30092789, 32847038	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28687333, 29345412, 29523788, 29617307		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	38097740	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18632638		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	14676209, 16951177, 18632638, 19116446, 20371672, 21208651, 21785464, 24407585, 27166196, 28179359, 28446239, 28859612, 29324748, 31233194, 33921111, 34207568, 35370009	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22761868, 24763074, 29978609, 30553276, 30866697, 31289489, 31371279		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	12947321, 16163059		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	15292208	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20682659, 21573184, 22761868, 23206899, 23342270, 23920124, 25170871, 25215932, 25268648, 29978609, 32422890, 32438692, 33213062, 34192548, 36184518, 36434556, 37542052	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	27703281		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	19139008	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	24328683	Associate	★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	16600505		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	31633491		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Recessive	Polycystic kidney disease	Pubtator	33112055	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	21697238	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	29152059		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	29152059		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	23872305		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Myelofibrosis	Myelofibrosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate carcinoma	Prostate cancer	BEFREE	15663989, 16140968, 16894533, 23886194, 23974361, 24403252, 24817628, 26082485, 26201947, 26624980, 30365107, 30532986		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	16894533		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16894533		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18350153, 18383865, 18623111, 18679417, 18687691, 19706771, 20412587, 22378065, 22390300, 22860065, 23145001, 23192379, 23559371, 23698767, 24174371, 24244675, 24767770, 24817628, 25216853, 25730905, 26066330, 26875492, 27028864, 28055971, 28606127, 28671964, 31500632, 31929761, 33503805, 36749798, 38087324, 39780215	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	16002577	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	25411245		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	25047515		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29577277		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	10544291	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	1698545		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25378349		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	31115008	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	22461510, 30745580	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	6177868, 6380962, 6403227		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	27566104, 31521948	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	10640727, 28957431	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	30646583	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	20796316	Stimulate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	37635193	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	29200833		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	15531725, 29568932		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	2830484, 36931608, 38237798	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17400812, 19046792, 24126923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	LHGDN	18327819, 18594011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	GWASCAT_DG	26908436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31815134		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	12771142, 18327819, 18594011, 18594017, 23047035, 23146907, 23213056, 24192080, 24565984, 25405202, 25779657, 29739791, 29970910, 31115008, 31118072, 32641864, 32823607, 34031486, 35153296, 36446524, 37082943	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	24203162, 26908436		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	29739791, 29955905, 31118072, 31731442		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	28314297		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	16600505		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	16600505		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24492292, 26460485		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	22442341	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20100835, 21698158, 22039045, 22383989, 23790975, 24260584, 24841138, 25337202, 25350844, 25432133, 25590580, 26460485, 26945908, 27077843, 29749547, 32964029, 33145355, 33291786, 37707375, 37794689, 37950040	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	26460485		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	23580575		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	30646583	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	31204551, 35349645	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
THROMBOCYTOPENIA 6	Thrombocytopenia	UNIPROT_DG	26936507		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
THROMBOCYTOPENIA 6	Thrombocytopenia	GENOMICS_ENGLAND_DG	26936507		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
THROMBOCYTOPENIA 6	Thrombocytopenia	ORPHANET_DG	26936507		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
THROMBOCYTOPENIA 6	Thrombocytopenia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
THROMBOCYTOPENIA 6	Thrombocytopenia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	22521882		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	20405349	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	9707435	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	22521882, 22696507		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	22696507, 25149476, 30531837	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	29970910	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	19018258, 21357651, 22457730, 22957061, 25068292, 25304315, 25980494, 27472710, 29288363, 31882647, 32358373, 32558176, 36633714, 37906431	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24931162, 26676753		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	3052255		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	16103120, 19321744, 21836020, 22353809, 32802870, 33830879, 36530656, 37166992, 38200039	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23696930, 24058594, 32604782	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	21058027	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	20124487		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	26066330	Associate	★☆☆☆☆ Found in Text Mining only
Venous Malformations Multiple Cutaneous and Mucosal	Venous malformation	Pubtator	28316284	Stimulate	★☆☆☆☆ Found in Text Mining only
Venous Malformations Multiple Cutaneous and Mucosal	Venous malformation	Pubtator	28316284	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	19755386	Associate	★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	8283037, 8723128		★☆☆☆☆ Found in Text Mining only