GAB1 (GRB2 associated binding protein 1)

Gene

• Entrez ID: 2549
• Gene name: GRB2 associated binding protein 1
• Gene symbol: GAB1
• Synonyms (NCBI Gene): DFNB26
• Disease Acronyms (UniProt): DFNB26
• Chromosome: 4
• Chromosome location: 4q31.21
• Summary: The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553950635	G>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT041177	hsa-miR-181d-5p	CLASH	23622248
MIRT164203	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT164198	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT164203	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT031364	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT164206	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT164200	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT164212	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT164198	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT164233	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT164236	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT164234	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT164235	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT164237	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT1009143	hsa-miR-101	CLIP-seq
MIRT1009144	hsa-miR-106a	CLIP-seq
MIRT1009145	hsa-miR-106b	CLIP-seq
MIRT1009146	hsa-miR-1254	CLIP-seq
MIRT1009147	hsa-miR-1264	CLIP-seq
MIRT1009148	hsa-miR-1272	CLIP-seq
MIRT1009149	hsa-miR-1283	CLIP-seq
MIRT1009150	hsa-miR-140-3p	CLIP-seq
MIRT1009151	hsa-miR-144	CLIP-seq
MIRT1009152	hsa-miR-17	CLIP-seq
MIRT1009153	hsa-miR-200b	CLIP-seq
MIRT1009154	hsa-miR-200c	CLIP-seq
MIRT1009155	hsa-miR-20a	CLIP-seq
MIRT1009156	hsa-miR-20b	CLIP-seq
MIRT1009157	hsa-miR-219-2-3p	CLIP-seq
MIRT1009158	hsa-miR-29a	CLIP-seq
MIRT1009159	hsa-miR-29b	CLIP-seq
MIRT1009160	hsa-miR-29c	CLIP-seq
MIRT1009161	hsa-miR-31	CLIP-seq
MIRT1009162	hsa-miR-3116	CLIP-seq
MIRT1009163	hsa-miR-3152-3p	CLIP-seq
MIRT1009164	hsa-miR-3175	CLIP-seq
MIRT1009165	hsa-miR-330-3p	CLIP-seq
MIRT1009166	hsa-miR-3618	CLIP-seq
MIRT1009167	hsa-miR-3689d	CLIP-seq
MIRT1009168	hsa-miR-375	CLIP-seq
MIRT1009169	hsa-miR-383	CLIP-seq
MIRT1009170	hsa-miR-3923	CLIP-seq
MIRT1009171	hsa-miR-3942-3p	CLIP-seq
MIRT1009172	hsa-miR-410	CLIP-seq
MIRT1009173	hsa-miR-4265	CLIP-seq
MIRT1009174	hsa-miR-4289	CLIP-seq
MIRT1009175	hsa-miR-429	CLIP-seq
MIRT1009176	hsa-miR-4296	CLIP-seq
MIRT1009177	hsa-miR-4302	CLIP-seq
MIRT1009178	hsa-miR-4307	CLIP-seq
MIRT1009179	hsa-miR-4313	CLIP-seq
MIRT1009180	hsa-miR-4318	CLIP-seq
MIRT1009181	hsa-miR-432	CLIP-seq
MIRT1009182	hsa-miR-4322	CLIP-seq
MIRT1009183	hsa-miR-4328	CLIP-seq
MIRT1009184	hsa-miR-4417	CLIP-seq
MIRT1009185	hsa-miR-4424	CLIP-seq
MIRT1009186	hsa-miR-4443	CLIP-seq
MIRT1009187	hsa-miR-4528	CLIP-seq
MIRT1009188	hsa-miR-4684-5p	CLIP-seq
MIRT1009189	hsa-miR-4708-3p	CLIP-seq
MIRT1009190	hsa-miR-4760-3p	CLIP-seq
MIRT1009191	hsa-miR-4760-5p	CLIP-seq
MIRT1009192	hsa-miR-4768-5p	CLIP-seq
MIRT1009193	hsa-miR-4772-5p	CLIP-seq
MIRT1009194	hsa-miR-4799-5p	CLIP-seq
MIRT1009195	hsa-miR-483-3p	CLIP-seq
MIRT1009196	hsa-miR-495	CLIP-seq
MIRT1009197	hsa-miR-499-3p	CLIP-seq
MIRT1009198	hsa-miR-499a-3p	CLIP-seq
MIRT1009199	hsa-miR-519a	CLIP-seq
MIRT1009200	hsa-miR-519b-3p	CLIP-seq
MIRT1009201	hsa-miR-519c-3p	CLIP-seq
MIRT1009202	hsa-miR-519d	CLIP-seq
MIRT1009203	hsa-miR-539	CLIP-seq
MIRT1009204	hsa-miR-548t	CLIP-seq
MIRT1009205	hsa-miR-574-5p	CLIP-seq
MIRT1009206	hsa-miR-579	CLIP-seq
MIRT1009207	hsa-miR-661	CLIP-seq
MIRT1009208	hsa-miR-93	CLIP-seq
MIRT1009209	hsa-miR-1303	CLIP-seq
MIRT1009210	hsa-miR-146a	CLIP-seq
MIRT1009211	hsa-miR-146b-5p	CLIP-seq
MIRT1009212	hsa-miR-3161	CLIP-seq
MIRT1009213	hsa-miR-3171	CLIP-seq
MIRT1009214	hsa-miR-323-3p	CLIP-seq
MIRT1009215	hsa-miR-3919	CLIP-seq
MIRT1009216	hsa-miR-3925-5p	CLIP-seq
MIRT1009217	hsa-miR-4314	CLIP-seq
MIRT1009218	hsa-miR-4668-3p	CLIP-seq
MIRT1009219	hsa-miR-4712-5p	CLIP-seq
MIRT1009220	hsa-miR-548c-3p	CLIP-seq
MIRT1009221	hsa-miR-548g	CLIP-seq
MIRT1009222	hsa-miR-568	CLIP-seq
MIRT1009223	hsa-miR-581	CLIP-seq
MIRT1009224	hsa-miR-629	CLIP-seq
MIRT1009225	hsa-miR-770-5p	CLIP-seq
MIRT1009143	hsa-miR-101	CLIP-seq
MIRT1998981	hsa-miR-1257	CLIP-seq
MIRT1009147	hsa-miR-1264	CLIP-seq
MIRT1009148	hsa-miR-1272	CLIP-seq
MIRT1998982	hsa-miR-1273e	CLIP-seq
MIRT1998983	hsa-miR-127-5p	CLIP-seq
MIRT1998984	hsa-miR-128	CLIP-seq
MIRT1998985	hsa-miR-1290	CLIP-seq
MIRT1998986	hsa-miR-1305	CLIP-seq
MIRT1009150	hsa-miR-140-3p	CLIP-seq
MIRT1998987	hsa-miR-151-3p	CLIP-seq
MIRT1009153	hsa-miR-200b	CLIP-seq
MIRT1009154	hsa-miR-200c	CLIP-seq
MIRT1998988	hsa-miR-21	CLIP-seq
MIRT1009157	hsa-miR-219-2-3p	CLIP-seq
MIRT1998989	hsa-miR-27a	CLIP-seq
MIRT1998990	hsa-miR-27b	CLIP-seq
MIRT1998991	hsa-miR-2964a-3p	CLIP-seq
MIRT1009158	hsa-miR-29a	CLIP-seq
MIRT1009159	hsa-miR-29b	CLIP-seq
MIRT1009160	hsa-miR-29c	CLIP-seq
MIRT1998992	hsa-miR-302f	CLIP-seq
MIRT1998993	hsa-miR-3065-5p	CLIP-seq
MIRT1998994	hsa-miR-30a	CLIP-seq
MIRT1998995	hsa-miR-30b	CLIP-seq
MIRT1998996	hsa-miR-30c	CLIP-seq
MIRT1998997	hsa-miR-30d	CLIP-seq
MIRT1998998	hsa-miR-30e	CLIP-seq
MIRT1998999	hsa-miR-3120-3p	CLIP-seq
MIRT1999000	hsa-miR-3148	CLIP-seq
MIRT1999001	hsa-miR-3190	CLIP-seq
MIRT1999002	hsa-miR-3199	CLIP-seq
MIRT1999003	hsa-miR-3202	CLIP-seq
MIRT1009214	hsa-miR-323-3p	CLIP-seq
MIRT1009165	hsa-miR-330-3p	CLIP-seq
MIRT1999004	hsa-miR-3606	CLIP-seq
MIRT1999005	hsa-miR-3607-3p	CLIP-seq
MIRT1999006	hsa-miR-3611	CLIP-seq
MIRT1999007	hsa-miR-3613-3p	CLIP-seq
MIRT1999008	hsa-miR-3622a-3p	CLIP-seq
MIRT1999009	hsa-miR-3622a-5p	CLIP-seq
MIRT1999010	hsa-miR-3622b-3p	CLIP-seq
MIRT1999011	hsa-miR-3691-3p	CLIP-seq
MIRT1009168	hsa-miR-375	CLIP-seq
MIRT1999012	hsa-miR-3926	CLIP-seq
MIRT1999013	hsa-miR-3927	CLIP-seq
MIRT1009171	hsa-miR-3942-3p	CLIP-seq
MIRT1999014	hsa-miR-3978	CLIP-seq
MIRT1009175	hsa-miR-429	CLIP-seq
MIRT1999015	hsa-miR-4300	CLIP-seq
MIRT1999016	hsa-miR-4310	CLIP-seq
MIRT1009180	hsa-miR-4318	CLIP-seq
MIRT1009183	hsa-miR-4328	CLIP-seq
MIRT1999017	hsa-miR-4463	CLIP-seq
MIRT1999018	hsa-miR-4499	CLIP-seq
MIRT1999019	hsa-miR-4515	CLIP-seq
MIRT1999020	hsa-miR-4533	CLIP-seq
MIRT1999021	hsa-miR-4646-5p	CLIP-seq
MIRT1999022	hsa-miR-4648	CLIP-seq
MIRT1999023	hsa-miR-4650-3p	CLIP-seq
MIRT1009218	hsa-miR-4668-3p	CLIP-seq
MIRT1009188	hsa-miR-4684-5p	CLIP-seq
MIRT1999024	hsa-miR-4699-3p	CLIP-seq
MIRT1009219	hsa-miR-4712-5p	CLIP-seq
MIRT1999025	hsa-miR-4747-5p	CLIP-seq
MIRT1009191	hsa-miR-4760-5p	CLIP-seq
MIRT1999026	hsa-miR-4762-5p	CLIP-seq
MIRT1999027	hsa-miR-4789-3p	CLIP-seq
MIRT1009194	hsa-miR-4799-5p	CLIP-seq
MIRT1009220	hsa-miR-548c-3p	CLIP-seq
MIRT1999028	hsa-miR-548n	CLIP-seq
MIRT1009204	hsa-miR-548t	CLIP-seq
MIRT1999029	hsa-miR-562	CLIP-seq
MIRT1999030	hsa-miR-569	CLIP-seq
MIRT1999031	hsa-miR-590-5p	CLIP-seq
MIRT1999032	hsa-miR-603	CLIP-seq
MIRT1009225	hsa-miR-770-5p	CLIP-seq
MIRT1999033	hsa-miR-920	CLIP-seq
MIRT2232744	hsa-miR-141	CLIP-seq
MIRT2232745	hsa-miR-200a	CLIP-seq
MIRT1009169	hsa-miR-383	CLIP-seq
MIRT2232746	hsa-miR-4666-5p	CLIP-seq
MIRT1009218	hsa-miR-4668-3p	CLIP-seq
MIRT1009193	hsa-miR-4772-5p	CLIP-seq
MIRT1998984	hsa-miR-128	CLIP-seq
MIRT1009149	hsa-miR-1283	CLIP-seq
MIRT1998989	hsa-miR-27a	CLIP-seq
MIRT1998990	hsa-miR-27b	CLIP-seq
MIRT1998993	hsa-miR-3065-5p	CLIP-seq
MIRT1999003	hsa-miR-3202	CLIP-seq
MIRT1009214	hsa-miR-323-3p	CLIP-seq
MIRT1999016	hsa-miR-4310	CLIP-seq
MIRT1999020	hsa-miR-4533	CLIP-seq
MIRT1009219	hsa-miR-4712-5p	CLIP-seq
MIRT1009225	hsa-miR-770-5p	CLIP-seq
MIRT1009173	hsa-miR-4265	CLIP-seq
MIRT1009176	hsa-miR-4296	CLIP-seq
MIRT1009179	hsa-miR-4313	CLIP-seq
MIRT1009182	hsa-miR-4322	CLIP-seq
MIRT1009184	hsa-miR-4417	CLIP-seq
MIRT2449982	hsa-miR-4511	CLIP-seq
MIRT1009188	hsa-miR-4684-5p	CLIP-seq
MIRT1009192	hsa-miR-4768-5p	CLIP-seq
MIRT1999027	hsa-miR-4789-3p	CLIP-seq
MIRT1009195	hsa-miR-483-3p	CLIP-seq
MIRT2449983	hsa-miR-642b	CLIP-seq
MIRT1009146	hsa-miR-1254	CLIP-seq
MIRT1009162	hsa-miR-3116	CLIP-seq
MIRT1999005	hsa-miR-3607-3p	CLIP-seq
MIRT1009169	hsa-miR-383	CLIP-seq
MIRT1009174	hsa-miR-4289	CLIP-seq
MIRT1009177	hsa-miR-4302	CLIP-seq
MIRT2536245	hsa-miR-4452	CLIP-seq
MIRT1009193	hsa-miR-4772-5p	CLIP-seq
MIRT1009197	hsa-miR-499-3p	CLIP-seq
MIRT1009198	hsa-miR-499a-3p	CLIP-seq
MIRT1009207	hsa-miR-661	CLIP-seq
MIRT1009173	hsa-miR-4265	CLIP-seq
MIRT1009176	hsa-miR-4296	CLIP-seq
MIRT1009179	hsa-miR-4313	CLIP-seq
MIRT1009182	hsa-miR-4322	CLIP-seq
MIRT1009184	hsa-miR-4417	CLIP-seq
MIRT1009188	hsa-miR-4684-5p	CLIP-seq
MIRT1009192	hsa-miR-4768-5p	CLIP-seq
MIRT1009195	hsa-miR-483-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IMP	17178724
GO:0005515	Function	Protein binding	IPI	9658397, 10978177, 11323411, 11453982, 12475979, 12855672, 14665621, 14701753, 15574420, 15985432, 16638574, 19167335, 19380743, 20308328, 20473329, 20936779, 21278788, 22536782, 23397142, 24658140, 24728074, 25241761, 25416956, 29408807, 31585087, 31980649
GO:0005829	Component	Cytosol	TAS
GO:0005911	Component	Cell-cell junction	IMP	26706435
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	TAS
GO:0007411	Process	Axon guidance	TAS
GO:0008286	Process	Insulin receptor signaling pathway	TAS	8596638
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	TAS
GO:0031532	Process	Actin cytoskeleton reorganization	IMP	17178724
GO:0035728	Process	Response to hepatocyte growth factor	IEA
GO:0038084	Process	Vascular endothelial growth factor signaling pathway	IMP	17178724
GO:0038089	Process	Positive regulation of cell migration by vascular endothelial growth factor signaling pathway	ISS
GO:0038128	Process	ERBB2 signaling pathway	TAS
GO:0045766	Process	Positive regulation of angiogenesis	IMP	25217442
GO:0051897	Process	Positive regulation of protein kinase B signaling	TAS
GO:0090668	Process	Endothelial cell chemotaxis to vascular endothelial growth factor	IMP	17178724

Other IDs

• MIM: 604439
• HGNC: 4066
• e!Ensembl: ENSG00000109458

Protein

• UniProt ID: Q13480
• Protein name: GRB2-associated-binding protein 1 (GRB2-associated binder 1) (Growth factor receptor bound protein 2-associated protein 1)
• Protein function: Adapter protein that plays a role in intracellular signaling cascades triggered by activated receptor-type kinases. Plays a role in FGFR1 signaling. Probably involved in signaling by the epidermal growth factor receptor (EGFR) and the insulin re
• PDB: 4QSY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00169	PH	6 → 116	PH domain	Domain

• Sequence:

  MSGGEVVCSGWLRKSPPEKKLKRYAWKRRWFVLRSGRLTGDPDVLEYYKNDHAKKPIRII
  DLNLCQQVDAGLTFNKKEFENSYIFDINTIDRIFYLVADSEEEMNKWVRCICDICGFNPT
  EEDPVKPPGSSLQAPADLPLAINTAPPSTQADSSSATLPPPYQLINVPPHLETLGIQEDP
  QDYLLLINCQSKKPEPTRTHADSAKSTSSETDCNDNVPSHKNPASSQSKHGMNGFFQQQM
  IYDSPPSRAPSASVDSSLYNLPRSYSHDVLPKVSPSSTEADGELYVFNTPSGTSSVETQM
  RHVSISYDIPPTPGNTYQIPRTFPEGTLGQTSKLDTIPDIPPPRPPKPHPAHDRSPVETC
  SIPRTASDTDSSYCIPTAGMSPSRSNTISTVDLNKLRKDASSQDCYDIPRAFPSDRSSSL
  EGFHNHFKVKNVLTVGSVSSEELDENYVPMNPNSPPRQHSSSFTEPIQEANYVPMTPGTF
  DFSSFGMQVPPPAHMGFRSSPKTPPRRPVPVADCEPPPVDRNLKPDRKVKPAPLEIKPLP
  EWEELQAPVRSPITRSFARDSSRFPMSPRPDSVHSTTSSSDSHDSEENYVPMNPNLSSED
  PNLFGSNSLDGGSSPMIKPKGDKQVEYLDLDLDSGKSTPPRKQKSSGSGSSVADERVDYV
  VVDQQKTLALKSTREAWTDGRQSTESETPAKSVK

• Sequence length: 694

Pathways

KEGG:

EGFR tyrosine kinase inhibitor resistance
ErbB signaling pathway
Ras signaling pathway
Phospholipase D signaling pathway
Neurotrophin signaling pathway
Bacterial invasion of epithelial cells
Proteoglycans in cancer
Renal cell carcinoma
Hepatocellular carcinoma
Gastric cancer

Reactome:

PI3K Cascade
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
PIP3 activates AKT signaling
GAB1 signalosome
PI3K events in ERBB2 signaling
Constitutive Signaling by Aberrant PI3K in Cancer
Constitutive Signaling by EGFRvIII
PI-3K cascade:FGFR1
PI-3K cascade:FGFR2
PI-3K cascade:FGFR3
PI-3K cascade:FGFR4
Signaling by FGFR2 in disease
Signaling by FGFR4 in disease
Signaling by FGFR1 in disease
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
MET activates PI3K/AKT signaling
Signaling by FGFR3 fusions in cancer
Signaling by FGFR3 point mutants in cancer
RET signaling
MET activates PTPN11
MET activates RAP1 and RAC1
MET receptor recycling
Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
Signaling by ERBB2 KD Mutants
Signaling by ERBB2 ECD mutants

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Deafness	DEAFNESS, AUTOSOMAL RECESSIVE 26	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs998045226, rs375759781, rs1567658710, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs760413427, rs773861155, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854	29408807
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma		21804548	ClinVar, GWAS
Nasopharyngeal Carcinoma	Nasopharyngeal Carcinoma	These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes.		GWAS, CBGDA
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Arteriosclerosis Obliterans	Associate	33323827
Asthma	Associate	25586491, 38057792
Atrophy	Associate	17211494
Biliary Tract Neoplasms	Associate	25217982
Blau syndrome	Associate	38057792
Carcinogenesis	Associate	16687399, 27302321
Carcinoma Hepatocellular	Associate	24391994, 40159482
Carcinoma Non Small Cell Lung	Associate	24662916, 27530552, 30280777
Carcinoma Ovarian Epithelial	Associate	27302321
Cholangiocarcinoma	Associate	26014518
Chromosome 1q21.1 Deletion Syndrome 1.35 Mb	Associate	26222673
Essential Hypertension	Associate	40140746
Glioblastoma	Associate	14701753, 24518591
Glioma	Associate	30016785, 38109857
Hypertension	Associate	40140746
Ichthyosis X Linked	Stimulate	37237151
Inflammation	Associate	25586491
Insulin Resistance	Associate	27535281
Klatskin Tumor	Associate	24312291
Leukemia Lymphocytic Chronic B Cell	Associate	24787006, 33786575
Leukemia Prolymphocytic T Cell	Associate	37169950
Lymphatic Metastasis	Associate	24312291, 26014518
Lymphatic Metastasis	Stimulate	27302321
Medulloblastoma	Associate	28231263, 35320876, 35967388, 38384024
Meningioma	Associate	34732686
Multiple Myeloma	Associate	15010462
Neoplasm Invasiveness	Associate	34732686
Neoplasms	Associate	21267586, 24391994, 27302321, 27475256, 28893350, 35967388, 37821528, 38109857
Osteoporosis	Associate	40660573
Pancreatic Neoplasms	Associate	31858540
Peritonitis	Associate	33655604
Polycystic Ovary Syndrome	Associate	21411543, 37047828
Polycystic Ovary Syndrome	Inhibit	25144631
Sarcopenia	Associate	40660573
Squamous Cell Carcinoma of Head and Neck	Associate	22865653, 36039933
Squamous Cell Carcinoma of Head and Neck	Stimulate	28893350
Stomach Neoplasms	Associate	17211494
Uterine Cervical Neoplasms	Associate	35894144