TAB2 (TGF-beta activated kinase 1 (MAP3K7) binding protein 2)

Gene

• Entrez ID: 23118
• Gene name: TGF-beta activated kinase 1 (MAP3K7) binding protein 2
• Gene symbol: TAB2
• Synonyms (NCBI Gene): CHTD2, MAP3K7IP2, TAB-2
• Disease Acronyms (UniProt): CHTD2
• Chromosome: 6
• Chromosome location: 6q25.1
• Summary: The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adapto

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs143213478	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs267607100	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs267607101	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs886041646	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057517934	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057518015	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057518422	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057518437	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1064795547	CA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1479104927	C>G,T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs1554263268	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554263321	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1562443558	T>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000289	hsa-miR-155-5p	Review	20029422
MIRT000289	hsa-miR-155-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	19193853
MIRT005057	hsa-let-7b-5p	Microarray	17699775
MIRT000289	hsa-miR-155-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	20852130
MIRT007040	hsa-miR-23b-3p	Luciferase reporter assay	22660635
MIRT000289	hsa-miR-155-5p	Luciferase reporter assay	23449975
MIRT000289	hsa-miR-155-5p	Luciferase reporter assay	23449975
MIRT000289	hsa-miR-155-5p	Reporter assay	20680360
MIRT000289	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT025198	hsa-miR-181a-5p	Sequencing	20371350
MIRT027769	hsa-miR-98-5p	Microarray	19088304
MIRT052592	hsa-let-7a-5p	CLASH	23622248
MIRT052592	hsa-let-7a-5p	CLASH	23622248
MIRT005057	hsa-let-7b-5p	CLASH	23622248
MIRT051388	hsa-let-7f-5p	CLASH	23622248
MIRT048189	hsa-miR-196a-5p	CLASH	23622248
MIRT046408	hsa-miR-15b-5p	CLASH	23622248
MIRT052996	hsa-miR-142-3p	Luciferase reporter assay, Western blot	22493297
MIRT052996	hsa-miR-142-3p	Luciferase reporter assay, Western blot	22493297
MIRT544320	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT544319	hsa-miR-5688	PAR-CLIP	21572407
MIRT544318	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT544317	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT544316	hsa-miR-651-3p	PAR-CLIP	21572407
MIRT492110	hsa-miR-3148	PAR-CLIP	21572407
MIRT492122	hsa-miR-199a-3p	PAR-CLIP	23592263
MIRT492121	hsa-miR-3129-5p	PAR-CLIP	23592263
MIRT492120	hsa-miR-199b-3p	PAR-CLIP	23592263
MIRT492119	hsa-miR-548m	PAR-CLIP	23592263
MIRT492118	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT492117	hsa-miR-4678	PAR-CLIP	23592263
MIRT492116	hsa-miR-936	PAR-CLIP	23592263
MIRT492115	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT492114	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT492113	hsa-miR-1914-3p	PAR-CLIP	23592263
MIRT492112	hsa-miR-5194	PAR-CLIP	23592263
MIRT492111	hsa-miR-6738-5p	PAR-CLIP	23592263
MIRT492110	hsa-miR-3148	PAR-CLIP	23592263
MIRT492108	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT492109	hsa-miR-1292-5p	PAR-CLIP	23592263
MIRT492106	hsa-miR-4471	PAR-CLIP	23592263
MIRT492107	hsa-miR-8059	PAR-CLIP	23592263
MIRT492105	hsa-miR-5681b	PAR-CLIP	23592263
MIRT492104	hsa-miR-6073	PAR-CLIP	23592263
MIRT492103	hsa-miR-222-5p	PAR-CLIP	23592263
MIRT492102	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT492101	hsa-miR-450a-1-3p	PAR-CLIP	23592263
MIRT449742	hsa-miR-4311	PAR-CLIP	22100165
MIRT449743	hsa-miR-1276	PAR-CLIP	22100165
MIRT449741	hsa-miR-583	PAR-CLIP	22100165
MIRT449740	hsa-miR-8063	PAR-CLIP	22100165
MIRT449739	hsa-miR-4698	PAR-CLIP	22100165
MIRT449738	hsa-miR-4708-5p	PAR-CLIP	22100165
MIRT449737	hsa-miR-655-5p	PAR-CLIP	22100165
MIRT449736	hsa-miR-377-5p	PAR-CLIP	22100165
MIRT449735	hsa-miR-6086	PAR-CLIP	22100165
MIRT449734	hsa-miR-1273e	PAR-CLIP	22100165
MIRT052996	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT000289	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT052996	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT000289	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT735169	hsa-miR-27b-5p	Luciferase reporter assay, Western blotting, qRT-PCR, ELISA	33174006
MIRT735381	hsa-miR-146a-5p	qRT-PCR	31739406
MIRT544320	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT544319	hsa-miR-5688	PAR-CLIP	21572407
MIRT544318	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT544317	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT544316	hsa-miR-651-3p	PAR-CLIP	21572407
MIRT492110	hsa-miR-3148	PAR-CLIP	21572407
MIRT492122	hsa-miR-199a-3p	PAR-CLIP	23592263
MIRT492121	hsa-miR-3129-5p	PAR-CLIP	23592263
MIRT492120	hsa-miR-199b-3p	PAR-CLIP	23592263
MIRT492119	hsa-miR-548m	PAR-CLIP	23592263
MIRT492118	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT492117	hsa-miR-4678	PAR-CLIP	23592263
MIRT492116	hsa-miR-936	PAR-CLIP	23592263
MIRT492115	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT492114	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT492113	hsa-miR-1914-3p	PAR-CLIP	23592263
MIRT492112	hsa-miR-5194	PAR-CLIP	23592263
MIRT492111	hsa-miR-6738-5p	PAR-CLIP	23592263
MIRT492110	hsa-miR-3148	PAR-CLIP	23592263
MIRT492108	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT492109	hsa-miR-1292-5p	PAR-CLIP	23592263
MIRT492106	hsa-miR-4471	PAR-CLIP	23592263
MIRT492107	hsa-miR-8059	PAR-CLIP	23592263
MIRT492105	hsa-miR-5681b	PAR-CLIP	23592263
MIRT492104	hsa-miR-6073	PAR-CLIP	23592263
MIRT492103	hsa-miR-222-5p	PAR-CLIP	23592263
MIRT492102	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT492101	hsa-miR-450a-1-3p	PAR-CLIP	23592263
MIRT449742	hsa-miR-4311	PAR-CLIP	22100165
MIRT449743	hsa-miR-1276	PAR-CLIP	22100165
MIRT449741	hsa-miR-583	PAR-CLIP	22100165
MIRT449740	hsa-miR-8063	PAR-CLIP	22100165
MIRT449739	hsa-miR-4698	PAR-CLIP	22100165
MIRT449738	hsa-miR-4708-5p	PAR-CLIP	22100165
MIRT449737	hsa-miR-655-5p	PAR-CLIP	22100165
MIRT449736	hsa-miR-377-5p	PAR-CLIP	22100165
MIRT449735	hsa-miR-6086	PAR-CLIP	22100165
MIRT449734	hsa-miR-1273e	PAR-CLIP	22100165
MIRT1408143	hsa-miR-1200	CLIP-seq
MIRT1408144	hsa-miR-1273g	CLIP-seq
MIRT1408145	hsa-miR-1302	CLIP-seq
MIRT1408146	hsa-miR-1303	CLIP-seq
MIRT1408147	hsa-miR-141	CLIP-seq
MIRT1408148	hsa-miR-181a	CLIP-seq
MIRT1408149	hsa-miR-181b	CLIP-seq
MIRT1408150	hsa-miR-181c	CLIP-seq
MIRT1408151	hsa-miR-181d	CLIP-seq
MIRT1408152	hsa-miR-1912	CLIP-seq
MIRT1408153	hsa-miR-200a	CLIP-seq
MIRT1408154	hsa-miR-204	CLIP-seq
MIRT1408155	hsa-miR-211	CLIP-seq
MIRT1408156	hsa-miR-3065-3p	CLIP-seq
MIRT1408157	hsa-miR-3121-5p	CLIP-seq
MIRT1408158	hsa-miR-3123	CLIP-seq
MIRT1408159	hsa-miR-3127-5p	CLIP-seq
MIRT1408160	hsa-miR-3130-5p	CLIP-seq
MIRT1408161	hsa-miR-3184	CLIP-seq
MIRT1408162	hsa-miR-3189-5p	CLIP-seq
MIRT1408163	hsa-miR-339-5p	CLIP-seq
MIRT1408164	hsa-miR-3545-3p	CLIP-seq
MIRT1408165	hsa-miR-3613-3p	CLIP-seq
MIRT1408166	hsa-miR-3925-5p	CLIP-seq
MIRT1408167	hsa-miR-3943	CLIP-seq
MIRT1408168	hsa-miR-4262	CLIP-seq
MIRT1408169	hsa-miR-4263	CLIP-seq
MIRT1408170	hsa-miR-4270	CLIP-seq
MIRT1408171	hsa-miR-4291	CLIP-seq
MIRT1408172	hsa-miR-4298	CLIP-seq
MIRT1408173	hsa-miR-4323	CLIP-seq
MIRT1408174	hsa-miR-4441	CLIP-seq
MIRT1408175	hsa-miR-4446-3p	CLIP-seq
MIRT1408176	hsa-miR-4482	CLIP-seq
MIRT1408177	hsa-miR-4490	CLIP-seq
MIRT1408178	hsa-miR-4503	CLIP-seq
MIRT1408179	hsa-miR-4506	CLIP-seq
MIRT1408180	hsa-miR-4635	CLIP-seq
MIRT1408181	hsa-miR-4662a-3p	CLIP-seq
MIRT1408182	hsa-miR-4672	CLIP-seq
MIRT1408183	hsa-miR-4675	CLIP-seq
MIRT1408184	hsa-miR-4719	CLIP-seq
MIRT1408185	hsa-miR-4741	CLIP-seq
MIRT1408186	hsa-miR-4755-5p	CLIP-seq
MIRT1408187	hsa-miR-4760-5p	CLIP-seq
MIRT1408188	hsa-miR-4768-5p	CLIP-seq
MIRT1408189	hsa-miR-501-5p	CLIP-seq
MIRT1408190	hsa-miR-515-5p	CLIP-seq
MIRT1408191	hsa-miR-520d-5p	CLIP-seq
MIRT1408192	hsa-miR-524-5p	CLIP-seq
MIRT1408193	hsa-miR-526b	CLIP-seq
MIRT1408194	hsa-miR-548a-3p	CLIP-seq
MIRT1408195	hsa-miR-548aa	CLIP-seq
MIRT1408196	hsa-miR-548ac	CLIP-seq
MIRT1408197	hsa-miR-548ae	CLIP-seq
MIRT1408198	hsa-miR-548aj	CLIP-seq
MIRT1408199	hsa-miR-548am	CLIP-seq
MIRT1408200	hsa-miR-548d-3p	CLIP-seq
MIRT1408201	hsa-miR-548e	CLIP-seq
MIRT1408202	hsa-miR-548f	CLIP-seq
MIRT1408203	hsa-miR-548x	CLIP-seq
MIRT1408204	hsa-miR-548z	CLIP-seq
MIRT1408205	hsa-miR-576-3p	CLIP-seq
MIRT1408206	hsa-miR-578	CLIP-seq
MIRT1408207	hsa-miR-623	CLIP-seq
MIRT1408208	hsa-miR-670	CLIP-seq
MIRT1408209	hsa-miR-7	CLIP-seq
MIRT1408210	hsa-miR-935	CLIP-seq
MIRT1408211	hsa-miR-942	CLIP-seq
MIRT2122406	hsa-miR-1228	CLIP-seq
MIRT2122407	hsa-miR-1245b-3p	CLIP-seq
MIRT2122408	hsa-miR-1269	CLIP-seq
MIRT2122409	hsa-miR-1269b	CLIP-seq
MIRT2122410	hsa-miR-127-5p	CLIP-seq
MIRT2122411	hsa-miR-1288	CLIP-seq
MIRT2122412	hsa-miR-1297	CLIP-seq
MIRT2122413	hsa-miR-140-3p	CLIP-seq
MIRT1408147	hsa-miR-141	CLIP-seq
MIRT2122414	hsa-miR-1911	CLIP-seq
MIRT2122415	hsa-miR-1913	CLIP-seq
MIRT1408153	hsa-miR-200a	CLIP-seq
MIRT2122416	hsa-miR-26a	CLIP-seq
MIRT2122417	hsa-miR-26b	CLIP-seq
MIRT2122418	hsa-miR-27a	CLIP-seq
MIRT2122419	hsa-miR-27b	CLIP-seq
MIRT2122420	hsa-miR-297	CLIP-seq
MIRT1408159	hsa-miR-3127-5p	CLIP-seq
MIRT2122421	hsa-miR-3143	CLIP-seq
MIRT2122422	hsa-miR-3159	CLIP-seq
MIRT1408162	hsa-miR-3189-5p	CLIP-seq
MIRT2122423	hsa-miR-324-3p	CLIP-seq
MIRT2122424	hsa-miR-3591-3p	CLIP-seq
MIRT2122425	hsa-miR-3655	CLIP-seq
MIRT2122426	hsa-miR-3668	CLIP-seq
MIRT2122427	hsa-miR-3691-3p	CLIP-seq
MIRT2122428	hsa-miR-3922-5p	CLIP-seq
MIRT2122429	hsa-miR-3977	CLIP-seq
MIRT2122430	hsa-miR-412	CLIP-seq
MIRT2122431	hsa-miR-4255	CLIP-seq
MIRT1408170	hsa-miR-4270	CLIP-seq
MIRT2122432	hsa-miR-4276	CLIP-seq
MIRT2122433	hsa-miR-4302	CLIP-seq
MIRT2122434	hsa-miR-4326	CLIP-seq
MIRT1408174	hsa-miR-4441	CLIP-seq
MIRT2122435	hsa-miR-4465	CLIP-seq
MIRT2122436	hsa-miR-4515	CLIP-seq
MIRT2122437	hsa-miR-4659a-3p	CLIP-seq
MIRT2122438	hsa-miR-4659b-3p	CLIP-seq
MIRT2122439	hsa-miR-4670-3p	CLIP-seq
MIRT2122440	hsa-miR-4677-5p	CLIP-seq
MIRT2122441	hsa-miR-4694-3p	CLIP-seq
MIRT2122442	hsa-miR-4740-5p	CLIP-seq
MIRT2122443	hsa-miR-4753-5p	CLIP-seq
MIRT2122444	hsa-miR-4758-3p	CLIP-seq
MIRT2122445	hsa-miR-4762-3p	CLIP-seq
MIRT2122446	hsa-miR-4797-5p	CLIP-seq
MIRT2122447	hsa-miR-513a-5p	CLIP-seq
MIRT1408193	hsa-miR-526b	CLIP-seq
MIRT2122448	hsa-miR-567	CLIP-seq
MIRT1408206	hsa-miR-578	CLIP-seq
MIRT1408209	hsa-miR-7	CLIP-seq
MIRT2122449	hsa-miR-759	CLIP-seq
MIRT1408210	hsa-miR-935	CLIP-seq
MIRT2344694	hsa-miR-101	CLIP-seq
MIRT2344695	hsa-miR-1264	CLIP-seq
MIRT2122408	hsa-miR-1269	CLIP-seq
MIRT2122409	hsa-miR-1269b	CLIP-seq
MIRT2344696	hsa-miR-1279	CLIP-seq
MIRT2122411	hsa-miR-1288	CLIP-seq
MIRT2344697	hsa-miR-1293	CLIP-seq
MIRT2344698	hsa-miR-144	CLIP-seq
MIRT2344699	hsa-miR-183	CLIP-seq
MIRT2122415	hsa-miR-1913	CLIP-seq
MIRT2344700	hsa-miR-2116	CLIP-seq
MIRT2344701	hsa-miR-219-5p	CLIP-seq
MIRT2344702	hsa-miR-2682	CLIP-seq
MIRT2122418	hsa-miR-27a	CLIP-seq
MIRT2122419	hsa-miR-27b	CLIP-seq
MIRT1408159	hsa-miR-3127-5p	CLIP-seq
MIRT2122422	hsa-miR-3159	CLIP-seq
MIRT2344703	hsa-miR-3170	CLIP-seq
MIRT1408162	hsa-miR-3189-5p	CLIP-seq
MIRT2122423	hsa-miR-324-3p	CLIP-seq
MIRT2344704	hsa-miR-34a	CLIP-seq
MIRT2344705	hsa-miR-34c-5p	CLIP-seq
MIRT2122427	hsa-miR-3691-3p	CLIP-seq
MIRT2344706	hsa-miR-377	CLIP-seq
MIRT2122428	hsa-miR-3922-5p	CLIP-seq
MIRT2122430	hsa-miR-412	CLIP-seq
MIRT2344707	hsa-miR-4260	CLIP-seq
MIRT1408170	hsa-miR-4270	CLIP-seq
MIRT1408171	hsa-miR-4291	CLIP-seq
MIRT2344708	hsa-miR-4421	CLIP-seq
MIRT2344709	hsa-miR-4423-3p	CLIP-seq
MIRT2344710	hsa-miR-4427	CLIP-seq
MIRT1408174	hsa-miR-4441	CLIP-seq
MIRT2344711	hsa-miR-4483	CLIP-seq
MIRT2344712	hsa-miR-4496	CLIP-seq
MIRT2344713	hsa-miR-449a	CLIP-seq
MIRT2344714	hsa-miR-449b	CLIP-seq
MIRT2344715	hsa-miR-449c	CLIP-seq
MIRT2122436	hsa-miR-4515	CLIP-seq
MIRT2344716	hsa-miR-4536	CLIP-seq
MIRT2122437	hsa-miR-4659a-3p	CLIP-seq
MIRT2122438	hsa-miR-4659b-3p	CLIP-seq
MIRT1408182	hsa-miR-4672	CLIP-seq
MIRT2344717	hsa-miR-4680-3p	CLIP-seq
MIRT2344718	hsa-miR-4691-3p	CLIP-seq
MIRT2122441	hsa-miR-4694-3p	CLIP-seq
MIRT2344719	hsa-miR-4709-5p	CLIP-seq
MIRT2122442	hsa-miR-4740-5p	CLIP-seq
MIRT2122443	hsa-miR-4753-5p	CLIP-seq
MIRT2122444	hsa-miR-4758-3p	CLIP-seq
MIRT2344720	hsa-miR-4782-3p	CLIP-seq
MIRT2344721	hsa-miR-4796-5p	CLIP-seq
MIRT2122446	hsa-miR-4797-5p	CLIP-seq
MIRT2122447	hsa-miR-513a-5p	CLIP-seq
MIRT2344722	hsa-miR-518a-5p	CLIP-seq
MIRT2344723	hsa-miR-522	CLIP-seq
MIRT2344724	hsa-miR-527	CLIP-seq
MIRT2344725	hsa-miR-545	CLIP-seq
MIRT2344726	hsa-miR-582-5p	CLIP-seq
MIRT2344727	hsa-miR-639	CLIP-seq
MIRT2344728	hsa-miR-656	CLIP-seq
MIRT1408209	hsa-miR-7	CLIP-seq
MIRT2122449	hsa-miR-759	CLIP-seq
MIRT2344729	hsa-miR-940	CLIP-seq
MIRT2344702	hsa-miR-2682	CLIP-seq
MIRT2344704	hsa-miR-34a	CLIP-seq
MIRT2344705	hsa-miR-34c-5p	CLIP-seq
MIRT2344709	hsa-miR-4423-3p	CLIP-seq
MIRT2344713	hsa-miR-449a	CLIP-seq
MIRT2344714	hsa-miR-449b	CLIP-seq
MIRT2344715	hsa-miR-449c	CLIP-seq
MIRT1408182	hsa-miR-4672	CLIP-seq
MIRT2122440	hsa-miR-4677-5p	CLIP-seq
MIRT2344729	hsa-miR-940	CLIP-seq
MIRT2122406	hsa-miR-1228	CLIP-seq
MIRT2122408	hsa-miR-1269	CLIP-seq
MIRT2122409	hsa-miR-1269b	CLIP-seq
MIRT2122411	hsa-miR-1288	CLIP-seq
MIRT2344697	hsa-miR-1293	CLIP-seq
MIRT2638003	hsa-miR-138	CLIP-seq
MIRT1408148	hsa-miR-181a	CLIP-seq
MIRT1408149	hsa-miR-181b	CLIP-seq
MIRT1408150	hsa-miR-181c	CLIP-seq
MIRT1408151	hsa-miR-181d	CLIP-seq
MIRT2122415	hsa-miR-1913	CLIP-seq
MIRT2638004	hsa-miR-2054	CLIP-seq
MIRT1408157	hsa-miR-3121-5p	CLIP-seq
MIRT2122421	hsa-miR-3143	CLIP-seq
MIRT2122422	hsa-miR-3159	CLIP-seq
MIRT1408162	hsa-miR-3189-5p	CLIP-seq
MIRT2122423	hsa-miR-324-3p	CLIP-seq
MIRT2122424	hsa-miR-3591-3p	CLIP-seq
MIRT2122425	hsa-miR-3655	CLIP-seq
MIRT2122426	hsa-miR-3668	CLIP-seq
MIRT2122427	hsa-miR-3691-3p	CLIP-seq
MIRT2638005	hsa-miR-376a	CLIP-seq
MIRT2638006	hsa-miR-376b	CLIP-seq
MIRT2638007	hsa-miR-3976	CLIP-seq
MIRT1408168	hsa-miR-4262	CLIP-seq
MIRT2638008	hsa-miR-4274	CLIP-seq
MIRT2638009	hsa-miR-4446-5p	CLIP-seq
MIRT2344711	hsa-miR-4483	CLIP-seq
MIRT2122436	hsa-miR-4515	CLIP-seq
MIRT2638010	hsa-miR-4519	CLIP-seq
MIRT2638011	hsa-miR-4524	CLIP-seq
MIRT2344716	hsa-miR-4536	CLIP-seq
MIRT2638012	hsa-miR-4668-3p	CLIP-seq
MIRT2344718	hsa-miR-4691-3p	CLIP-seq
MIRT2122441	hsa-miR-4694-3p	CLIP-seq
MIRT2344719	hsa-miR-4709-5p	CLIP-seq
MIRT2638013	hsa-miR-4738-3p	CLIP-seq
MIRT2122442	hsa-miR-4740-5p	CLIP-seq
MIRT2122444	hsa-miR-4758-3p	CLIP-seq
MIRT2344721	hsa-miR-4796-5p	CLIP-seq
MIRT1408189	hsa-miR-501-5p	CLIP-seq
MIRT2638014	hsa-miR-514	CLIP-seq
MIRT2638015	hsa-miR-514b-3p	CLIP-seq
MIRT2344722	hsa-miR-518a-5p	CLIP-seq
MIRT2344724	hsa-miR-527	CLIP-seq
MIRT2638016	hsa-miR-543	CLIP-seq
MIRT2344726	hsa-miR-582-5p	CLIP-seq
MIRT2344728	hsa-miR-656	CLIP-seq
MIRT2122406	hsa-miR-1228	CLIP-seq
MIRT2122408	hsa-miR-1269	CLIP-seq
MIRT2122409	hsa-miR-1269b	CLIP-seq
MIRT2122411	hsa-miR-1288	CLIP-seq
MIRT2344697	hsa-miR-1293	CLIP-seq
MIRT2638003	hsa-miR-138	CLIP-seq
MIRT1408148	hsa-miR-181a	CLIP-seq
MIRT1408149	hsa-miR-181b	CLIP-seq
MIRT1408150	hsa-miR-181c	CLIP-seq
MIRT1408151	hsa-miR-181d	CLIP-seq
MIRT2122415	hsa-miR-1913	CLIP-seq
MIRT2692589	hsa-miR-2052	CLIP-seq
MIRT2638004	hsa-miR-2054	CLIP-seq
MIRT1408157	hsa-miR-3121-5p	CLIP-seq
MIRT2122421	hsa-miR-3143	CLIP-seq
MIRT2122422	hsa-miR-3159	CLIP-seq
MIRT1408162	hsa-miR-3189-5p	CLIP-seq
MIRT2122423	hsa-miR-324-3p	CLIP-seq
MIRT2122424	hsa-miR-3591-3p	CLIP-seq
MIRT1408165	hsa-miR-3613-3p	CLIP-seq
MIRT2122425	hsa-miR-3655	CLIP-seq
MIRT2122426	hsa-miR-3668	CLIP-seq
MIRT2692590	hsa-miR-3672	CLIP-seq
MIRT2122427	hsa-miR-3691-3p	CLIP-seq
MIRT2638005	hsa-miR-376a	CLIP-seq
MIRT2638006	hsa-miR-376b	CLIP-seq
MIRT2638007	hsa-miR-3976	CLIP-seq
MIRT1408168	hsa-miR-4262	CLIP-seq
MIRT2638008	hsa-miR-4274	CLIP-seq
MIRT2692591	hsa-miR-4422	CLIP-seq
MIRT1408175	hsa-miR-4446-3p	CLIP-seq
MIRT2638009	hsa-miR-4446-5p	CLIP-seq
MIRT2344711	hsa-miR-4483	CLIP-seq
MIRT2122436	hsa-miR-4515	CLIP-seq
MIRT2638010	hsa-miR-4519	CLIP-seq
MIRT2638011	hsa-miR-4524	CLIP-seq
MIRT2344716	hsa-miR-4536	CLIP-seq
MIRT2638012	hsa-miR-4668-3p	CLIP-seq
MIRT1408183	hsa-miR-4675	CLIP-seq
MIRT2344718	hsa-miR-4691-3p	CLIP-seq
MIRT2122441	hsa-miR-4694-3p	CLIP-seq
MIRT2344719	hsa-miR-4709-5p	CLIP-seq
MIRT2638013	hsa-miR-4738-3p	CLIP-seq
MIRT2122442	hsa-miR-4740-5p	CLIP-seq
MIRT1408185	hsa-miR-4741	CLIP-seq
MIRT2122444	hsa-miR-4758-3p	CLIP-seq
MIRT1408188	hsa-miR-4768-5p	CLIP-seq
MIRT2638014	hsa-miR-514	CLIP-seq
MIRT2638015	hsa-miR-514b-3p	CLIP-seq
MIRT1408190	hsa-miR-515-5p	CLIP-seq
MIRT2344722	hsa-miR-518a-5p	CLIP-seq
MIRT2344724	hsa-miR-527	CLIP-seq
MIRT2638016	hsa-miR-543	CLIP-seq
MIRT2344726	hsa-miR-582-5p	CLIP-seq
MIRT1408211	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000187	Process	Activation of MAPK activity	TAS
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0002755	Process	MyD88-dependent toll-like receptor signaling pathway	TAS
GO:0005515	Function	Protein binding	IPI	11460167, 11518704, 14743216, 16845370, 17158449, 17449468, 19026643, 19675569, 21512573, 21903422, 21988832, 22081109, 22158122, 22904686, 25260751, 27426733, 32296183
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007249	Process	I-kappaB kinase/NF-kappaB signaling	TAS
GO:0007254	Process	JNK cascade	TAS
GO:0007507	Process	Heart development	IMP	20493459
GO:0010008	Component	Endosome membrane	TAS
GO:0010507	Process	Negative regulation of autophagy	TAS	21976705
GO:0032496	Process	Response to lipopolysaccharide	IDA	19193853
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IBA	21873635
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IEP	12761501
GO:0043130	Function	Ubiquitin binding	IEA
GO:0045860	Process	Positive regulation of protein kinase activity	IBA	21873635
GO:0045860	Process	Positive regulation of protein kinase activity	IDA	11460167
GO:0046872	Function	Metal ion binding	IEA
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	TAS
GO:0070423	Process	Nucleotide-binding oligomerization domain containing signaling pathway	TAS
GO:0070498	Process	Interleukin-1-mediated signaling pathway	TAS
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IBA	21873635
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IDA	19935683

Other IDs

• MIM: 605101
• HGNC: 17075
• e!Ensembl: ENSG00000055208

Protein

• UniProt ID: Q9NYJ8
• Protein name: TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 (Mitogen-activated protein kinase kinase kinase 7-interacting protein 2) (TAK1-binding protein 2) (TAB-2) (TGF-beta-activated kinase 1-binding protein 2)
• Protein function: Adapter required to activate the JNK and NF-kappa-B signaling pathways through the specific recognition of 'Lys-63'-linked polyubiquitin chains by its RanBP2-type zinc finger (NZF) (PubMed:10882101, PubMed:11460167, PubMed:15327770, PubMed:22158
• PDB: 2DAE, 2WWZ, 2WX0, 2WX1, 9AVT, 9AVW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02845	CUE	9 → 50	CUE domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. In the embryo, expressed in the ventricular trabeculae, endothelial cells of the conotruncal cushions of the outflow tract and in the endothelial cells lining the developing aortic valves. {ECO:0000269|PubMed:10882101
• Sequence:

  MAQGSHQIDFQVLHDLRQKFPEVPEVVVSRCMLQNNNNLDACCAVLSQESTRYLYGEGDL
  NFSDDSGISGLRNHMTSLNLDLQSQNIYHHGREGSRMNGSRTLTHSISDGQLQGGQSNSE
  LFQQEPQTAPAQVPQGFNVFGMSSSSGASNSAPHLGFHLGSKGTSSLSQQTPRFNPIMVT
  LAPNIQTGRNTPTSLHIHGVPPPVLNSPQGNSIYIRPYITTPGGTTRQTQQHSGWVSQFN
  PMNPQQVYQPSQPGPWTTCPASNPLSHTSSQQPNQQGHQTSHVYMPISSPTTSQPPTIHS
  SGSSQSSAHSQYNIQNISTGPRKNQIEIKLEPPQRNNSSKLRSSGPRTSSTSSSVNSQTL
  NRNQPTVYIAASPPNTDELMSRSQPKVYISANAATGDEQVMRNQPTLFISTNSGASAASR
  NMSGQVSMGPAFIHHHPPKSRAIGNNSATSPRVVVTQPNTKYTFKITVSPNKPPAVSPGV
  VSPTFELTNLLNHPDHYVETENIQHLTDPTLAHVDRISETRKLSMGSDDAAYTQALLVHQ
  KARMERLQRELEIQKKKLDKLKSEVNEMENNLTRRRLKRSNSISQIPSLEEMQQLRSCNR
  QLQIDIDCLTKEIDLFQARGPHFNPSAIHNFYDNIGFVGPVPPKPKDQRSIIKTPKTQDT
  EDDEGAQWNCTACTFLNHPALIRCEQCEMPRHF

• Sequence length: 693

Pathways

KEGG:

MAPK signaling pathway
NF-kappa B signaling pathway
Osteoclast differentiation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
IL-17 signaling pathway
TNF signaling pathway
Alcoholic liver disease
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Yersinia infection
Leishmaniasis
Toxoplasmosis
Hepatitis B
Measles
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Lipid and atherosclerosis

Reactome:

Nuclear signaling by ERBB4
NOD1/2 Signaling Pathway
Downstream TCR signaling
FCERI mediated NF-kB activation
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
activated TAK1 mediates p38 MAPK activation
JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
TNFR1-induced NFkappaB signaling pathway
CLEC7A (Dectin-1) signaling
TICAM1,TRAF6-dependent induction of TAK1 complex
Interleukin-1 signaling
IRAK2 mediated activation of TAK1 complex
TRAF6-mediated induction of TAK1 complex within TLR4 complex
Alpha-protein kinase 1 signaling pathway
IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Aortic aneurysm	Aortic Aneurysm	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675
Bicuspid aortic valve	Bicuspid aortic valve	rs1569484234, rs1569484208
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	22383897
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683, 22383897
Congenital heart defects	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049	20493459, 28135719
Diabetes mellitus	DIABETES MELLITUS, INSULIN-DEPENDENT, 5	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	26192919
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Crohn disease	Crohn Disease		26192919	ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Polyvalvular Heart Disease Syndrome	polyvalvular heart disease syndrome			GenCC
Diabetic Retinopathy	Diabetic Retinopathy			GWAS
Coronary artery disease	Coronary artery disease			GWAS
Atrial Fibrillation	Atrial Fibrillation			GWAS
Diverticulitis	Diverticulitis			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Crohn Disease	Crohn Disease			GWAS
Hypertension	Hypertension			GWAS
Dementia	Dementia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Kidney Injury	Associate	37026010
Acute Lung Injury	Associate	33174006
Adrenal Insufficiency	Associate	36000780
Arthritis Psoriatic	Inhibit	27706699
Bicuspid Aortic Valve Disease	Associate	32183715
Breast Neoplasms	Associate	22249258, 22383897, 26036842, 27992601, 30285756
Carcinoma Hepatocellular	Associate	26875893
Carcinoma Ovarian Epithelial	Associate	31485280
Cardiomyopathies	Associate	34456334, 34741306, 36000780
Cardiomyopathy Dilated	Associate	39905300
Cardiovascular Diseases	Associate	34741306
Congenital Abnormalities	Associate	36229919
Connective Tissue Diseases	Associate	34741306, 36000780
COVID 19	Associate	37026010
Developmental Disabilities	Associate	34741306, 35971781, 36229919
Ehlers Danlos syndrome type 3	Associate	34456334
Endometrial Neoplasms	Associate	37233761
Facial Dysmorphism with Multiple Malformations	Associate	36000780
Feeding and Eating Disorders	Associate	35971781
Fetal Growth Retardation	Associate	32183715
Filaminopathy autosomal dominant	Associate	27426733
Frontometaphyseal dysplasia	Associate	27426733, 29467388
Growth Disorders	Associate	32183715, 34456334, 36000780
HAIR AN syndrome	Stimulate	22904171
Hearing Loss	Associate	36000780
Hearing Loss Noise Induced	Associate	33974633
Heart Defects Congenital	Associate	31959127, 34456334, 34741306, 35971781, 36229919
Heart Diseases	Associate	34456334, 34741306, 35971781, 36000780
Heart Valve Diseases	Associate	32183715
HEM dysplasia	Associate	36000780
Hypoplastic Left Heart Syndrome	Associate	32183715
Inflammation	Associate	17449468, 22904171, 24942571, 27992601, 31485280
Iron Overload	Associate	39905300
Joint Instability	Associate	35971781
LEOPARD Syndrome	Associate	34906501
Macular Degeneration	Associate	39768951
Metabolic Diseases	Associate	22904171
Mitochondrial Diseases	Associate	39905300
Mitral Valve Insufficiency	Associate	34456334
Mitral Valve Stenosis	Associate	34456334
Multiple System Atrophy	Associate	34906501
Muscle Hypotonia	Associate	35971781, 36229919
Musculoskeletal Abnormalities	Associate	34906501
Musculoskeletal Diseases	Associate	34906501
Noonan Syndrome	Associate	34456334
Periodic fever familial autosomal dominant	Associate	31009059
Phosphoglycerate Kinase 1 Deficiency	Associate	36229919
Polycystic Ovary Syndrome	Associate	22904171
Precancerous Conditions	Associate	35978886
Prostatic Neoplasms	Associate	39786309
Renal Insufficiency Chronic	Associate	37026010
Sacral defect and anterior sacral meningocele	Associate	36000780
Sacral hemangiomas multiple congenital abnormalities	Associate	36000780
Sleep Wake Disorders	Associate	35971781
Spinal Stenosis	Associate	36000780
Sprengel deformity	Associate	36000780
Squamous Cell Carcinoma of Head and Neck	Associate	35978886
Teebi Shaltout syndrome	Associate	36000780
Thakker Donnai syndrome	Associate	32183715, 36229919
Urogenital Abnormalities	Associate	35971781
Uterine Cervical Neoplasms	Associate	40133221
Virus Diseases	Associate	24942571
Vision Disorders	Associate	35971781