Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	196528
Gene name	AT-rich interaction domain 2
Gene symbol	ARID2
Synonyms (NCBI Gene)	BAF200CSS6SMARCF3ZIPZAPp200
Chromosome	12
Chromosome location	12q12
Summary	This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and

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SNP ID	Visualize variation	Clinical significance	Consequence
rs772995852	C>G,T	Likely-pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs774801990	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs796052241	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555139310	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1555148625	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1555162230	AGAGTAAGGA>TT	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, frameshift variant
rs1565642121	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1592121202	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592121317	GA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592121752	CA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592145571	T>G	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant

582

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001569	hsa-miR-155-5p	Luciferase reporter assay	18367535
MIRT001569	hsa-miR-155-5p	Luciferase reporter assay	18367535
MIRT001569	hsa-miR-155-5p	pSILAC	18668040
MIRT001384	hsa-miR-1-3p	pSILAC	18668040
MIRT001569	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT001569	hsa-miR-155-5p	Proteomics	18668040
MIRT001384	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT046521	hsa-miR-15b-5p	CLASH	23622248
MIRT038009	hsa-miR-424-3p	CLASH	23622248
MIRT640417	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT640418	hsa-miR-4277	HITS-CLIP	23824327
MIRT512501	hsa-miR-4499	PAR-CLIP	23446348
MIRT512500	hsa-miR-6728-3p	PAR-CLIP	23446348
MIRT512499	hsa-miR-4329	PAR-CLIP	23446348
MIRT512498	hsa-miR-93-3p	PAR-CLIP	23446348
MIRT512497	hsa-miR-3692-5p	PAR-CLIP	23446348
MIRT512496	hsa-miR-3928-5p	PAR-CLIP	23446348
MIRT512495	hsa-miR-6806-3p	PAR-CLIP	23446348
MIRT512494	hsa-miR-873-3p	PAR-CLIP	23446348
MIRT512493	hsa-miR-4663	PAR-CLIP	23446348
MIRT512491	hsa-miR-7160-5p	PAR-CLIP	23446348
MIRT512492	hsa-miR-8077	PAR-CLIP	23446348
MIRT512490	hsa-miR-6071	PAR-CLIP	23446348
MIRT512489	hsa-miR-127-5p	PAR-CLIP	23446348
MIRT512488	hsa-miR-3672	PAR-CLIP	23446348
MIRT512487	hsa-miR-6864-3p	PAR-CLIP	23446348
MIRT481591	hsa-miR-203a-3p	PAR-CLIP	23592263
MIRT368373	hsa-miR-212-3p	PAR-CLIP	23592263
MIRT368374	hsa-miR-132-3p	PAR-CLIP	23592263
MIRT481592	hsa-miR-194-5p	PAR-CLIP	23592263
MIRT481591	hsa-miR-203a-3p	PAR-CLIP	23592263
MIRT481590	hsa-miR-802	PAR-CLIP	23592263
MIRT481588	hsa-miR-4501	PAR-CLIP	23592263
MIRT481589	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT481587	hsa-miR-222-5p	PAR-CLIP	23592263
MIRT481586	hsa-miR-4474-3p	PAR-CLIP	23592263
MIRT481585	hsa-miR-6875-3p	PAR-CLIP	23592263
MIRT481584	hsa-miR-4659a-3p	PAR-CLIP	23592263
MIRT481583	hsa-miR-4659b-3p	PAR-CLIP	23592263
MIRT441192	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT441192	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT736496	hsa-miR-922	Luciferase reporter assayWestern blottingqRT-PCR	33786634
MIRT640417	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT640418	hsa-miR-4277	HITS-CLIP	23824327
MIRT512501	hsa-miR-4499	PAR-CLIP	23446348
MIRT512500	hsa-miR-6728-3p	PAR-CLIP	23446348
MIRT512499	hsa-miR-4329	PAR-CLIP	23446348
MIRT512498	hsa-miR-93-3p	PAR-CLIP	23446348
MIRT512497	hsa-miR-3692-5p	PAR-CLIP	23446348
MIRT512496	hsa-miR-3928-5p	PAR-CLIP	23446348
MIRT512495	hsa-miR-6806-3p	PAR-CLIP	23446348
MIRT512494	hsa-miR-873-3p	PAR-CLIP	23446348
MIRT512493	hsa-miR-4663	PAR-CLIP	23446348
MIRT512491	hsa-miR-7160-5p	PAR-CLIP	23446348
MIRT512492	hsa-miR-8077	PAR-CLIP	23446348
MIRT512490	hsa-miR-6071	PAR-CLIP	23446348
MIRT512489	hsa-miR-127-5p	PAR-CLIP	23446348
MIRT512488	hsa-miR-3672	PAR-CLIP	23446348
MIRT512487	hsa-miR-6864-3p	PAR-CLIP	23446348
MIRT481591	hsa-miR-203a-3p	PAR-CLIP	23592263
MIRT368373	hsa-miR-212-3p	PAR-CLIP	23592263
MIRT368374	hsa-miR-132-3p	PAR-CLIP	23592263
MIRT481592	hsa-miR-194-5p	PAR-CLIP	23592263
MIRT481591	hsa-miR-203a-3p	PAR-CLIP	23592263
MIRT481590	hsa-miR-802	PAR-CLIP	23592263
MIRT481588	hsa-miR-4501	PAR-CLIP	23592263
MIRT481589	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT481587	hsa-miR-222-5p	PAR-CLIP	23592263
MIRT481586	hsa-miR-4474-3p	PAR-CLIP	23592263
MIRT481585	hsa-miR-6875-3p	PAR-CLIP	23592263
MIRT481584	hsa-miR-4659a-3p	PAR-CLIP	23592263
MIRT481583	hsa-miR-4659b-3p	PAR-CLIP	23592263
MIRT796394	hsa-miR-1197	CLIP-seq
MIRT796395	hsa-miR-1207-3p	CLIP-seq
MIRT796396	hsa-miR-1245b-5p	CLIP-seq
MIRT796397	hsa-miR-1273g	CLIP-seq
MIRT796398	hsa-miR-128	CLIP-seq
MIRT796399	hsa-miR-1283	CLIP-seq
MIRT796400	hsa-miR-1304	CLIP-seq
MIRT796401	hsa-miR-132	CLIP-seq
MIRT796402	hsa-miR-1323	CLIP-seq
MIRT796403	hsa-miR-144	CLIP-seq
MIRT796404	hsa-miR-153	CLIP-seq
MIRT796405	hsa-miR-181a	CLIP-seq
MIRT796406	hsa-miR-181b	CLIP-seq
MIRT796407	hsa-miR-181c	CLIP-seq
MIRT796408	hsa-miR-181d	CLIP-seq
MIRT796409	hsa-miR-186	CLIP-seq
MIRT796410	hsa-miR-194	CLIP-seq
MIRT796411	hsa-miR-196a	CLIP-seq
MIRT796412	hsa-miR-196b	CLIP-seq
MIRT796413	hsa-miR-203	CLIP-seq
MIRT796414	hsa-miR-2052	CLIP-seq
MIRT796415	hsa-miR-212	CLIP-seq
MIRT796416	hsa-miR-217	CLIP-seq
MIRT796417	hsa-miR-2682	CLIP-seq
MIRT796418	hsa-miR-27a	CLIP-seq
MIRT796419	hsa-miR-27b	CLIP-seq
MIRT796420	hsa-miR-2964a-5p	CLIP-seq
MIRT796421	hsa-miR-298	CLIP-seq
MIRT796422	hsa-miR-3074-3p	CLIP-seq
MIRT796423	hsa-miR-3120-3p	CLIP-seq
MIRT796424	hsa-miR-3121-5p	CLIP-seq
MIRT796425	hsa-miR-3133	CLIP-seq
MIRT796426	hsa-miR-3142	CLIP-seq
MIRT796427	hsa-miR-3143	CLIP-seq
MIRT796428	hsa-miR-3144-3p	CLIP-seq
MIRT796429	hsa-miR-3156-5p	CLIP-seq
MIRT796430	hsa-miR-3157-5p	CLIP-seq
MIRT796431	hsa-miR-3160-5p	CLIP-seq
MIRT796432	hsa-miR-3163	CLIP-seq
MIRT796433	hsa-miR-3168	CLIP-seq
MIRT796434	hsa-miR-3200-3p	CLIP-seq
MIRT796435	hsa-miR-3202	CLIP-seq
MIRT796436	hsa-miR-323-5p	CLIP-seq
MIRT796437	hsa-miR-340	CLIP-seq
MIRT796438	hsa-miR-361-5p	CLIP-seq
MIRT796439	hsa-miR-3662	CLIP-seq
MIRT796440	hsa-miR-3671	CLIP-seq
MIRT796441	hsa-miR-3678-3p	CLIP-seq
MIRT796442	hsa-miR-3681	CLIP-seq
MIRT796443	hsa-miR-3689a-3p	CLIP-seq
MIRT796444	hsa-miR-3689c	CLIP-seq
MIRT796445	hsa-miR-3692	CLIP-seq
MIRT796446	hsa-miR-371-5p	CLIP-seq
MIRT796447	hsa-miR-371b-5p	CLIP-seq
MIRT796448	hsa-miR-376c	CLIP-seq
MIRT796449	hsa-miR-383	CLIP-seq
MIRT796450	hsa-miR-3919	CLIP-seq
MIRT796451	hsa-miR-3925-5p	CLIP-seq
MIRT796452	hsa-miR-3927	CLIP-seq
MIRT796453	hsa-miR-3941	CLIP-seq
MIRT796454	hsa-miR-4262	CLIP-seq
MIRT796455	hsa-miR-4272	CLIP-seq
MIRT796456	hsa-miR-4275	CLIP-seq
MIRT796457	hsa-miR-4282	CLIP-seq
MIRT796458	hsa-miR-4297	CLIP-seq
MIRT796459	hsa-miR-432	CLIP-seq
MIRT796460	hsa-miR-4425	CLIP-seq
MIRT796461	hsa-miR-4452	CLIP-seq
MIRT796462	hsa-miR-4461	CLIP-seq
MIRT796463	hsa-miR-4477b	CLIP-seq
MIRT796464	hsa-miR-449c	CLIP-seq
MIRT796465	hsa-miR-452	CLIP-seq
MIRT796466	hsa-miR-4521	CLIP-seq
MIRT796467	hsa-miR-4533	CLIP-seq
MIRT796468	hsa-miR-4640-5p	CLIP-seq
MIRT796469	hsa-miR-4658	CLIP-seq
MIRT796470	hsa-miR-466	CLIP-seq
MIRT796471	hsa-miR-4666-5p	CLIP-seq
MIRT796472	hsa-miR-4672	CLIP-seq
MIRT796473	hsa-miR-4676-3p	CLIP-seq
MIRT796474	hsa-miR-4680-3p	CLIP-seq
MIRT796475	hsa-miR-4684-3p	CLIP-seq
MIRT796476	hsa-miR-4686	CLIP-seq
MIRT796477	hsa-miR-4691-3p	CLIP-seq
MIRT796478	hsa-miR-4694-3p	CLIP-seq
MIRT796479	hsa-miR-4698	CLIP-seq
MIRT796480	hsa-miR-4699-3p	CLIP-seq
MIRT796481	hsa-miR-4711-5p	CLIP-seq
MIRT796482	hsa-miR-4719	CLIP-seq
MIRT796483	hsa-miR-4726-5p	CLIP-seq
MIRT796484	hsa-miR-4728-5p	CLIP-seq
MIRT796485	hsa-miR-4731-3p	CLIP-seq
MIRT796486	hsa-miR-4738-3p	CLIP-seq
MIRT796487	hsa-miR-4742-5p	CLIP-seq
MIRT796488	hsa-miR-4756-3p	CLIP-seq
MIRT796489	hsa-miR-4758-5p	CLIP-seq
MIRT796490	hsa-miR-4761-5p	CLIP-seq
MIRT796491	hsa-miR-4762-3p	CLIP-seq
MIRT796492	hsa-miR-4773	CLIP-seq
MIRT796493	hsa-miR-4801	CLIP-seq
MIRT796494	hsa-miR-487a	CLIP-seq
MIRT796495	hsa-miR-505	CLIP-seq
MIRT796496	hsa-miR-513b	CLIP-seq
MIRT796497	hsa-miR-513c	CLIP-seq
MIRT796498	hsa-miR-514b-5p	CLIP-seq
MIRT796499	hsa-miR-516a-3p	CLIP-seq
MIRT796500	hsa-miR-522	CLIP-seq
MIRT796501	hsa-miR-541	CLIP-seq
MIRT796502	hsa-miR-543	CLIP-seq
MIRT796503	hsa-miR-545	CLIP-seq
MIRT796504	hsa-miR-548a-3p	CLIP-seq
MIRT796505	hsa-miR-548c-3p	CLIP-seq
MIRT796506	hsa-miR-548e	CLIP-seq
MIRT796507	hsa-miR-548f	CLIP-seq
MIRT796508	hsa-miR-548g	CLIP-seq
MIRT796509	hsa-miR-548o	CLIP-seq
MIRT796510	hsa-miR-548p	CLIP-seq
MIRT796511	hsa-miR-553	CLIP-seq
MIRT796512	hsa-miR-582-5p	CLIP-seq
MIRT796513	hsa-miR-587	CLIP-seq
MIRT796514	hsa-miR-607	CLIP-seq
MIRT796515	hsa-miR-624	CLIP-seq
MIRT796516	hsa-miR-627	CLIP-seq
MIRT796517	hsa-miR-636	CLIP-seq
MIRT796518	hsa-miR-654-5p	CLIP-seq
MIRT796519	hsa-miR-764	CLIP-seq
MIRT796520	hsa-miR-875-5p	CLIP-seq
MIRT796521	hsa-miR-876-3p	CLIP-seq
MIRT796522	hsa-miR-890	CLIP-seq
MIRT796523	hsa-miR-940	CLIP-seq
MIRT796524	hsa-miR-944	CLIP-seq
MIRT1935143	hsa-miR-1193	CLIP-seq
MIRT796394	hsa-miR-1197	CLIP-seq
MIRT1935144	hsa-miR-1207-5p	CLIP-seq
MIRT796399	hsa-miR-1283	CLIP-seq
MIRT1935145	hsa-miR-1286	CLIP-seq
MIRT1935146	hsa-miR-1298	CLIP-seq
MIRT796401	hsa-miR-132	CLIP-seq
MIRT1935147	hsa-miR-139-5p	CLIP-seq
MIRT1935148	hsa-miR-140-3p	CLIP-seq
MIRT1935149	hsa-miR-145	CLIP-seq
MIRT796404	hsa-miR-153	CLIP-seq
MIRT1935150	hsa-miR-155	CLIP-seq
MIRT1935151	hsa-miR-1825	CLIP-seq
MIRT1935152	hsa-miR-199a-5p	CLIP-seq
MIRT1935153	hsa-miR-199b-5p	CLIP-seq
MIRT796414	hsa-miR-2052	CLIP-seq
MIRT1935154	hsa-miR-2117	CLIP-seq
MIRT796415	hsa-miR-212	CLIP-seq
MIRT796416	hsa-miR-217	CLIP-seq
MIRT1935155	hsa-miR-2277-3p	CLIP-seq
MIRT796417	hsa-miR-2682	CLIP-seq
MIRT796421	hsa-miR-298	CLIP-seq
MIRT796422	hsa-miR-3074-3p	CLIP-seq
MIRT796423	hsa-miR-3120-3p	CLIP-seq
MIRT796424	hsa-miR-3121-5p	CLIP-seq
MIRT796430	hsa-miR-3157-5p	CLIP-seq
MIRT1935156	hsa-miR-3158-5p	CLIP-seq
MIRT796432	hsa-miR-3163	CLIP-seq
MIRT796433	hsa-miR-3168	CLIP-seq
MIRT1935157	hsa-miR-3180-5p	CLIP-seq
MIRT1935158	hsa-miR-3183	CLIP-seq
MIRT1935159	hsa-miR-320e	CLIP-seq
MIRT1935160	hsa-miR-338-5p	CLIP-seq
MIRT796437	hsa-miR-340	CLIP-seq
MIRT1935161	hsa-miR-3613-3p	CLIP-seq
MIRT1935162	hsa-miR-3613-5p	CLIP-seq
MIRT1935163	hsa-miR-3622b-5p	CLIP-seq
MIRT796439	hsa-miR-3662	CLIP-seq
MIRT796441	hsa-miR-3678-3p	CLIP-seq
MIRT1935164	hsa-miR-3691-5p	CLIP-seq
MIRT796445	hsa-miR-3692	CLIP-seq
MIRT1935165	hsa-miR-375	CLIP-seq
MIRT1935166	hsa-miR-3921	CLIP-seq
MIRT1935167	hsa-miR-3973	CLIP-seq
MIRT1935168	hsa-miR-410	CLIP-seq
MIRT1935169	hsa-miR-4251	CLIP-seq
MIRT1935170	hsa-miR-4273	CLIP-seq
MIRT796456	hsa-miR-4275	CLIP-seq
MIRT796457	hsa-miR-4282	CLIP-seq
MIRT1935171	hsa-miR-4418	CLIP-seq
MIRT1935172	hsa-miR-4436a	CLIP-seq
MIRT796461	hsa-miR-4452	CLIP-seq
MIRT1935173	hsa-miR-4491	CLIP-seq
MIRT796464	hsa-miR-449c	CLIP-seq
MIRT1935174	hsa-miR-450b-5p	CLIP-seq
MIRT796466	hsa-miR-4521	CLIP-seq
MIRT1935175	hsa-miR-4653-5p	CLIP-seq
MIRT1935176	hsa-miR-4657	CLIP-seq
MIRT1935177	hsa-miR-4677-5p	CLIP-seq
MIRT1935178	hsa-miR-4678	CLIP-seq
MIRT796474	hsa-miR-4680-3p	CLIP-seq
MIRT1935179	hsa-miR-4684-5p	CLIP-seq
MIRT796477	hsa-miR-4691-3p	CLIP-seq
MIRT796479	hsa-miR-4698	CLIP-seq
MIRT796480	hsa-miR-4699-3p	CLIP-seq
MIRT1935180	hsa-miR-4704-3p	CLIP-seq
MIRT1935181	hsa-miR-4705	CLIP-seq
MIRT796481	hsa-miR-4711-5p	CLIP-seq
MIRT1935182	hsa-miR-4716-5p	CLIP-seq
MIRT796482	hsa-miR-4719	CLIP-seq
MIRT1935183	hsa-miR-4723-3p	CLIP-seq
MIRT1935184	hsa-miR-4724-5p	CLIP-seq
MIRT1935185	hsa-miR-4736	CLIP-seq
MIRT796487	hsa-miR-4742-5p	CLIP-seq
MIRT1935186	hsa-miR-4752	CLIP-seq
MIRT796490	hsa-miR-4761-5p	CLIP-seq
MIRT796491	hsa-miR-4762-3p	CLIP-seq
MIRT1935187	hsa-miR-4763-3p	CLIP-seq
MIRT796492	hsa-miR-4773	CLIP-seq
MIRT1935188	hsa-miR-4781-3p	CLIP-seq
MIRT1935189	hsa-miR-4787-5p	CLIP-seq
MIRT1935190	hsa-miR-4789-5p	CLIP-seq
MIRT1935191	hsa-miR-4793-5p	CLIP-seq
MIRT1935192	hsa-miR-4795-3p	CLIP-seq
MIRT1935193	hsa-miR-4803	CLIP-seq
MIRT796494	hsa-miR-487a	CLIP-seq
MIRT1935194	hsa-miR-488	CLIP-seq
MIRT1935195	hsa-miR-494	CLIP-seq
MIRT1935196	hsa-miR-507	CLIP-seq
MIRT1935197	hsa-miR-509-3-5p	CLIP-seq
MIRT1935198	hsa-miR-509-5p	CLIP-seq
MIRT796496	hsa-miR-513b	CLIP-seq
MIRT796500	hsa-miR-522	CLIP-seq
MIRT796503	hsa-miR-545	CLIP-seq
MIRT1935199	hsa-miR-548a-5p	CLIP-seq
MIRT1935200	hsa-miR-548ab	CLIP-seq
MIRT1935201	hsa-miR-548ak	CLIP-seq
MIRT1935202	hsa-miR-548b-5p	CLIP-seq
MIRT1935203	hsa-miR-548c-5p	CLIP-seq
MIRT1935204	hsa-miR-548d-5p	CLIP-seq
MIRT796508	hsa-miR-548g	CLIP-seq
MIRT1935205	hsa-miR-548h	CLIP-seq
MIRT1935206	hsa-miR-548i	CLIP-seq
MIRT1935207	hsa-miR-548j	CLIP-seq
MIRT1935208	hsa-miR-548m	CLIP-seq
MIRT796510	hsa-miR-548p	CLIP-seq
MIRT1935209	hsa-miR-548v	CLIP-seq
MIRT1935210	hsa-miR-548w	CLIP-seq
MIRT1935211	hsa-miR-548y	CLIP-seq
MIRT1935212	hsa-miR-557	CLIP-seq
MIRT1935213	hsa-miR-559	CLIP-seq
MIRT1935214	hsa-miR-563	CLIP-seq
MIRT1935215	hsa-miR-568	CLIP-seq
MIRT796513	hsa-miR-587	CLIP-seq
MIRT1935216	hsa-miR-604	CLIP-seq
MIRT796515	hsa-miR-624	CLIP-seq
MIRT1935217	hsa-miR-647	CLIP-seq
MIRT1935218	hsa-miR-656	CLIP-seq
MIRT1935219	hsa-miR-664	CLIP-seq
MIRT796523	hsa-miR-940	CLIP-seq
MIRT796524	hsa-miR-944	CLIP-seq
MIRT2175201	hsa-miR-101	CLIP-seq
MIRT2175202	hsa-miR-1253	CLIP-seq
MIRT796400	hsa-miR-1304	CLIP-seq
MIRT796401	hsa-miR-132	CLIP-seq
MIRT796403	hsa-miR-144	CLIP-seq
MIRT1935149	hsa-miR-145	CLIP-seq
MIRT1935150	hsa-miR-155	CLIP-seq
MIRT796405	hsa-miR-181a	CLIP-seq
MIRT796406	hsa-miR-181b	CLIP-seq
MIRT796407	hsa-miR-181c	CLIP-seq
MIRT796408	hsa-miR-181d	CLIP-seq
MIRT1935151	hsa-miR-1825	CLIP-seq
MIRT1935152	hsa-miR-199a-5p	CLIP-seq
MIRT1935153	hsa-miR-199b-5p	CLIP-seq
MIRT796414	hsa-miR-2052	CLIP-seq
MIRT2175203	hsa-miR-208a	CLIP-seq
MIRT2175204	hsa-miR-208b	CLIP-seq
MIRT796415	hsa-miR-212	CLIP-seq
MIRT796421	hsa-miR-298	CLIP-seq
MIRT796422	hsa-miR-3074-3p	CLIP-seq
MIRT796423	hsa-miR-3120-3p	CLIP-seq
MIRT2175205	hsa-miR-3120-5p	CLIP-seq
MIRT796424	hsa-miR-3121-5p	CLIP-seq
MIRT796425	hsa-miR-3133	CLIP-seq
MIRT796431	hsa-miR-3160-5p	CLIP-seq
MIRT796432	hsa-miR-3163	CLIP-seq
MIRT1935157	hsa-miR-3180-5p	CLIP-seq
MIRT1935158	hsa-miR-3183	CLIP-seq
MIRT2175206	hsa-miR-3616-3p	CLIP-seq
MIRT2175207	hsa-miR-3617	CLIP-seq
MIRT1935163	hsa-miR-3622b-5p	CLIP-seq
MIRT2175208	hsa-miR-3663-3p	CLIP-seq
MIRT796441	hsa-miR-3678-3p	CLIP-seq
MIRT796445	hsa-miR-3692	CLIP-seq
MIRT1935165	hsa-miR-375	CLIP-seq
MIRT2175209	hsa-miR-3907	CLIP-seq
MIRT2175210	hsa-miR-3920	CLIP-seq
MIRT1935166	hsa-miR-3921	CLIP-seq
MIRT796453	hsa-miR-3941	CLIP-seq
MIRT1935167	hsa-miR-3973	CLIP-seq
MIRT796454	hsa-miR-4262	CLIP-seq
MIRT796456	hsa-miR-4275	CLIP-seq
MIRT796457	hsa-miR-4282	CLIP-seq
MIRT2175211	hsa-miR-433	CLIP-seq
MIRT2175212	hsa-miR-4432	CLIP-seq
MIRT796463	hsa-miR-4477b	CLIP-seq
MIRT2175213	hsa-miR-4493	CLIP-seq
MIRT2175214	hsa-miR-451b	CLIP-seq
MIRT796465	hsa-miR-452	CLIP-seq
MIRT2175215	hsa-miR-4652-3p	CLIP-seq
MIRT1935175	hsa-miR-4653-5p	CLIP-seq
MIRT796470	hsa-miR-466	CLIP-seq
MIRT796472	hsa-miR-4672	CLIP-seq
MIRT796473	hsa-miR-4676-3p	CLIP-seq
MIRT1935178	hsa-miR-4678	CLIP-seq
MIRT796480	hsa-miR-4699-3p	CLIP-seq
MIRT796481	hsa-miR-4711-5p	CLIP-seq
MIRT2175216	hsa-miR-4712-5p	CLIP-seq
MIRT796482	hsa-miR-4719	CLIP-seq
MIRT2175217	hsa-miR-4721	CLIP-seq
MIRT1935183	hsa-miR-4723-3p	CLIP-seq
MIRT796485	hsa-miR-4731-3p	CLIP-seq
MIRT796487	hsa-miR-4742-5p	CLIP-seq
MIRT2175218	hsa-miR-4760-3p	CLIP-seq
MIRT796491	hsa-miR-4762-3p	CLIP-seq
MIRT796492	hsa-miR-4773	CLIP-seq
MIRT796493	hsa-miR-4801	CLIP-seq
MIRT796494	hsa-miR-487a	CLIP-seq
MIRT1935194	hsa-miR-488	CLIP-seq
MIRT2175219	hsa-miR-499-5p	CLIP-seq
MIRT796502	hsa-miR-543	CLIP-seq
MIRT796503	hsa-miR-545	CLIP-seq
MIRT796504	hsa-miR-548a-3p	CLIP-seq
MIRT1935199	hsa-miR-548a-5p	CLIP-seq
MIRT1935200	hsa-miR-548ab	CLIP-seq
MIRT1935201	hsa-miR-548ak	CLIP-seq
MIRT1935202	hsa-miR-548b-5p	CLIP-seq
MIRT1935203	hsa-miR-548c-5p	CLIP-seq
MIRT1935204	hsa-miR-548d-5p	CLIP-seq
MIRT796506	hsa-miR-548e	CLIP-seq
MIRT796507	hsa-miR-548f	CLIP-seq
MIRT796508	hsa-miR-548g	CLIP-seq
MIRT1935205	hsa-miR-548h	CLIP-seq
MIRT1935206	hsa-miR-548i	CLIP-seq
MIRT1935207	hsa-miR-548j	CLIP-seq
MIRT1935208	hsa-miR-548m	CLIP-seq
MIRT1935210	hsa-miR-548w	CLIP-seq
MIRT1935211	hsa-miR-548y	CLIP-seq
MIRT1935213	hsa-miR-559	CLIP-seq
MIRT1935215	hsa-miR-568	CLIP-seq
MIRT2175220	hsa-miR-580	CLIP-seq
MIRT796513	hsa-miR-587	CLIP-seq
MIRT1935216	hsa-miR-604	CLIP-seq
MIRT796517	hsa-miR-636	CLIP-seq
MIRT2175221	hsa-miR-641	CLIP-seq
MIRT1935217	hsa-miR-647	CLIP-seq
MIRT1935218	hsa-miR-656	CLIP-seq
MIRT1935219	hsa-miR-664	CLIP-seq
MIRT2175222	hsa-miR-760	CLIP-seq
MIRT796519	hsa-miR-764	CLIP-seq
MIRT2175223	hsa-miR-770-5p	CLIP-seq
MIRT2175224	hsa-miR-885-5p	CLIP-seq
MIRT1935143	hsa-miR-1193	CLIP-seq
MIRT1935164	hsa-miR-3691-5p	CLIP-seq
MIRT1935173	hsa-miR-4491	CLIP-seq
MIRT1935176	hsa-miR-4657	CLIP-seq
MIRT1935186	hsa-miR-4752	CLIP-seq
MIRT796399	hsa-miR-1283	CLIP-seq
MIRT796430	hsa-miR-3157-5p	CLIP-seq
MIRT796433	hsa-miR-3168	CLIP-seq
MIRT796439	hsa-miR-3662	CLIP-seq
MIRT796477	hsa-miR-4691-3p	CLIP-seq
MIRT796479	hsa-miR-4698	CLIP-seq
MIRT796503	hsa-miR-545	CLIP-seq
MIRT796510	hsa-miR-548p	CLIP-seq
MIRT796515	hsa-miR-624	CLIP-seq
MIRT796432	hsa-miR-3163	CLIP-seq
MIRT796505	hsa-miR-548c-3p	CLIP-seq
MIRT796511	hsa-miR-553	CLIP-seq
MIRT796432	hsa-miR-3163	CLIP-seq
MIRT796505	hsa-miR-548c-3p	CLIP-seq
MIRT796511	hsa-miR-553	CLIP-seq
MIRT796396	hsa-miR-1245b-5p	CLIP-seq
MIRT2478541	hsa-miR-1261	CLIP-seq
MIRT796397	hsa-miR-1273g	CLIP-seq
MIRT2478542	hsa-miR-1275	CLIP-seq
MIRT2478543	hsa-miR-1279	CLIP-seq
MIRT796399	hsa-miR-1283	CLIP-seq
MIRT1935147	hsa-miR-139-5p	CLIP-seq
MIRT2478544	hsa-miR-188-3p	CLIP-seq
MIRT796417	hsa-miR-2682	CLIP-seq
MIRT796423	hsa-miR-3120-3p	CLIP-seq
MIRT796426	hsa-miR-3142	CLIP-seq
MIRT2478545	hsa-miR-3148	CLIP-seq
MIRT796430	hsa-miR-3157-5p	CLIP-seq
MIRT1935156	hsa-miR-3158-5p	CLIP-seq
MIRT796432	hsa-miR-3163	CLIP-seq
MIRT796433	hsa-miR-3168	CLIP-seq
MIRT2478546	hsa-miR-3190	CLIP-seq
MIRT1935159	hsa-miR-320e	CLIP-seq
MIRT796436	hsa-miR-323-5p	CLIP-seq
MIRT796437	hsa-miR-340	CLIP-seq
MIRT796439	hsa-miR-3662	CLIP-seq
MIRT796443	hsa-miR-3689a-3p	CLIP-seq
MIRT796444	hsa-miR-3689c	CLIP-seq
MIRT796445	hsa-miR-3692	CLIP-seq
MIRT2478547	hsa-miR-369-3p	CLIP-seq
MIRT2478548	hsa-miR-374a	CLIP-seq
MIRT2478549	hsa-miR-374b	CLIP-seq
MIRT2478550	hsa-miR-374c	CLIP-seq
MIRT1935165	hsa-miR-375	CLIP-seq
MIRT1935167	hsa-miR-3973	CLIP-seq
MIRT2478551	hsa-miR-4263	CLIP-seq
MIRT2478552	hsa-miR-4268	CLIP-seq
MIRT796455	hsa-miR-4272	CLIP-seq
MIRT796458	hsa-miR-4297	CLIP-seq
MIRT2478553	hsa-miR-4303	CLIP-seq
MIRT796460	hsa-miR-4425	CLIP-seq
MIRT2478554	hsa-miR-4448	CLIP-seq
MIRT2478555	hsa-miR-4468	CLIP-seq
MIRT796463	hsa-miR-4477b	CLIP-seq
MIRT796464	hsa-miR-449c	CLIP-seq
MIRT2478556	hsa-miR-4517	CLIP-seq
MIRT2478557	hsa-miR-4525	CLIP-seq
MIRT2478558	hsa-miR-4665-5p	CLIP-seq
MIRT2478559	hsa-miR-4668-5p	CLIP-seq
MIRT796477	hsa-miR-4691-3p	CLIP-seq
MIRT796478	hsa-miR-4694-3p	CLIP-seq
MIRT796479	hsa-miR-4698	CLIP-seq
MIRT796480	hsa-miR-4699-3p	CLIP-seq
MIRT2478560	hsa-miR-4723-5p	CLIP-seq
MIRT796484	hsa-miR-4728-5p	CLIP-seq
MIRT2478561	hsa-miR-4731-5p	CLIP-seq
MIRT796486	hsa-miR-4738-3p	CLIP-seq
MIRT796487	hsa-miR-4742-5p	CLIP-seq
MIRT796490	hsa-miR-4761-5p	CLIP-seq
MIRT796491	hsa-miR-4762-3p	CLIP-seq
MIRT796492	hsa-miR-4773	CLIP-seq
MIRT2478562	hsa-miR-4790-3p	CLIP-seq
MIRT1935191	hsa-miR-4793-5p	CLIP-seq
MIRT1935192	hsa-miR-4795-3p	CLIP-seq
MIRT2478563	hsa-miR-4799-5p	CLIP-seq
MIRT1935193	hsa-miR-4803	CLIP-seq
MIRT1935195	hsa-miR-494	CLIP-seq
MIRT796500	hsa-miR-522	CLIP-seq
MIRT796503	hsa-miR-545	CLIP-seq
MIRT1935199	hsa-miR-548a-5p	CLIP-seq
MIRT2478564	hsa-miR-548aa	CLIP-seq
MIRT1935200	hsa-miR-548ab	CLIP-seq
MIRT1935201	hsa-miR-548ak	CLIP-seq
MIRT1935202	hsa-miR-548b-5p	CLIP-seq
MIRT796505	hsa-miR-548c-3p	CLIP-seq
MIRT1935203	hsa-miR-548c-5p	CLIP-seq
MIRT1935204	hsa-miR-548d-5p	CLIP-seq
MIRT796508	hsa-miR-548g	CLIP-seq
MIRT1935205	hsa-miR-548h	CLIP-seq
MIRT1935206	hsa-miR-548i	CLIP-seq
MIRT1935207	hsa-miR-548j	CLIP-seq
MIRT796510	hsa-miR-548p	CLIP-seq
MIRT1935209	hsa-miR-548v	CLIP-seq
MIRT1935210	hsa-miR-548w	CLIP-seq
MIRT1935211	hsa-miR-548y	CLIP-seq
MIRT796511	hsa-miR-553	CLIP-seq
MIRT1935213	hsa-miR-559	CLIP-seq
MIRT1935214	hsa-miR-563	CLIP-seq
MIRT1935215	hsa-miR-568	CLIP-seq
MIRT2478565	hsa-miR-570	CLIP-seq
MIRT2478566	hsa-miR-576-5p	CLIP-seq
MIRT796513	hsa-miR-587	CLIP-seq
MIRT796515	hsa-miR-624	CLIP-seq
MIRT2478567	hsa-miR-625	CLIP-seq
MIRT2478568	hsa-miR-637	CLIP-seq
MIRT2478569	hsa-miR-655	CLIP-seq
MIRT1935218	hsa-miR-656	CLIP-seq
MIRT2478570	hsa-miR-7	CLIP-seq
MIRT796521	hsa-miR-876-3p	CLIP-seq
MIRT796523	hsa-miR-940	CLIP-seq
MIRT796524	hsa-miR-944	CLIP-seq
MIRT2478541	hsa-miR-1261	CLIP-seq
MIRT2478543	hsa-miR-1279	CLIP-seq
MIRT796399	hsa-miR-1283	CLIP-seq
MIRT1935147	hsa-miR-139-5p	CLIP-seq
MIRT2478544	hsa-miR-188-3p	CLIP-seq
MIRT796423	hsa-miR-3120-3p	CLIP-seq
MIRT796430	hsa-miR-3157-5p	CLIP-seq
MIRT1935156	hsa-miR-3158-5p	CLIP-seq
MIRT796432	hsa-miR-3163	CLIP-seq
MIRT796433	hsa-miR-3168	CLIP-seq
MIRT2478546	hsa-miR-3190	CLIP-seq
MIRT2675361	hsa-miR-3201	CLIP-seq
MIRT1935159	hsa-miR-320e	CLIP-seq
MIRT796439	hsa-miR-3662	CLIP-seq
MIRT2478552	hsa-miR-4268	CLIP-seq
MIRT796455	hsa-miR-4272	CLIP-seq
MIRT2478554	hsa-miR-4448	CLIP-seq
MIRT2478556	hsa-miR-4517	CLIP-seq
MIRT796477	hsa-miR-4691-3p	CLIP-seq
MIRT796479	hsa-miR-4698	CLIP-seq
MIRT796480	hsa-miR-4699-3p	CLIP-seq
MIRT796486	hsa-miR-4738-3p	CLIP-seq
MIRT796490	hsa-miR-4761-5p	CLIP-seq
MIRT2478562	hsa-miR-4790-3p	CLIP-seq
MIRT2675362	hsa-miR-4791	CLIP-seq
MIRT1935191	hsa-miR-4793-5p	CLIP-seq
MIRT1935192	hsa-miR-4795-3p	CLIP-seq
MIRT1935195	hsa-miR-494	CLIP-seq
MIRT796503	hsa-miR-545	CLIP-seq
MIRT796505	hsa-miR-548c-3p	CLIP-seq
MIRT796510	hsa-miR-548p	CLIP-seq
MIRT1935209	hsa-miR-548v	CLIP-seq
MIRT796511	hsa-miR-553	CLIP-seq
MIRT1935214	hsa-miR-563	CLIP-seq
MIRT1935215	hsa-miR-568	CLIP-seq
MIRT796513	hsa-miR-587	CLIP-seq
MIRT796515	hsa-miR-624	CLIP-seq
MIRT1935218	hsa-miR-656	CLIP-seq
MIRT2478570	hsa-miR-7	CLIP-seq
MIRT796524	hsa-miR-944	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000776	Component	Kinetochore	NAS	11078522
GO:0000785	Component	Chromatin	NAS	12192000
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IDA	15640446
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	15985610, 22140357, 24981860, 30108113, 31759698, 33961781, 34591612, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006337	Process	Nucleosome disassembly	IDA	8895581
GO:0006338	Process	Chromatin remodeling	NAS	10078207
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	18809673
GO:0008270	Function	Zinc ion binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	26169693
GO:0016363	Component	Nuclear matrix	NAS	9128241
GO:0016514	Component	SWI/SNF complex	IDA	8895581
GO:0016586	Component	RSC-type complex	NAS	8804307
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	25066234
GO:0030336	Process	Negative regulation of cell migration	IDA	26169693
GO:0042592	Process	Homeostatic process	IEA
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11790558
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	15985610
GO:0046872	Function	Metal ion binding	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0060038	Process	Cardiac muscle cell proliferation	IEA
GO:0060982	Process	Coronary artery morphogenesis	IEA
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0072359	Process	Circulatory system development	IEA
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IMP	28381560
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	NAS	10778858
GO:2000781	Process	Positive regulation of double-strand break repair	NAS	25066234
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

MIM	HGNC	e!Ensembl
609539	18037	ENSG00000189079

Q68CP9

Protein name

AT-rich interactive domain-containing protein 2 (ARID domain-containing protein 2) (BRG1-associated factor 200) (BAF200) (Zinc finger protein with activation potential) (Zipzap/p200)

Protein function

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in ta

PDB

7VDV , 7Y8R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01388	ARID	15 → 101	ARID/BRIGHT DNA binding domain	Domain
PF02257	RFX_DNA_binding	521 → 603	RFX DNA-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in heart. {ECO:0000269|PubMed:16782067}.

Sequence

MANSTGKAPPDERRKGLAFLDELRQFHHSRGSPFKKIPAVGGKELDLHGLYTRVTTLGGF
AKVSEKNQWGEIVEEFNFPRSCSNAAFALKQYYLRYLEKYEKVHHFGEDDDEVPPGNPKP
QLPIGAIPSSYNYQQHSVSDYLRQSYGLSMDFNSPNDYNKLVLSLLSGLPNEVDFAINVC
TLLSNESKHVMQLEKDPKIITLLLANAGVFDDTLGSFSTVFGEEWKEKTDRDFVKFWKDI
VDDNEVRDLISDRNKSHEGTSGEWIWESLFHPPRKLGINDIEGQRVLQIAVILRNLSFEE
GNVKLLAANRTCLRFLLLSAHSHFISLRQLGLDTLGNIAAELLLDPVDFKTTHLMFHTVT
KCLMSRDRFLKMRGMEILGNLCKAEDNGVLICEYVDQDSYREIICHLTLPDVLLVISTLE
VLYMLTEMGDVACTKIAKVEKSIDMLVCLVSMDIQMFGPDALAAVKLIEHPSSSHQMLSE
IRPQAIEQVQTQTHVASAPASRAVVAQHVAPPPGIVEIDSEKFACQWLNAHFEVNPDCSV
SRAEMYSEYLSTCSKLARGGILTSTGFYKCLRTVFPNHTVKRVEDSSSNGQAHIHVVGVK
RRAIPLPIQMYYQQQPVSTSVVRVDSVPDVSPAPSPAGIPHGSQTIGNHFQRTPVANQSS
NLTATQMSFPVQGVHTVAQTVSRIPQNPSPHTHQQQNAPVTVIQSKAPIPCEVVKATVIQ
NSIPQTGVPVSIAVGGGPPQSSVVQNHSTGPQPVTVVNSQTLLHHPSVIPQQSPLHTVVP
GQIPSGTPVTVIQQAVPQSHMFGRVQNIPACTSTVSQGQQLITTSPQPVQTSSQQTSAGS
QSQDTVIIAPPQYVTTSASNIVSATSVQNFQVATGQMVTIAGVPSPQASRVGFQNIAPKP
LPSQQVSSTVVQQPIQQPQQPTQQSVVIVSQPAQQGQTYAPAIHQIVLANPAALPAGQTV
QLTGQPNITPSSSPSPVPATNNQVPTAMSSSSTPQSQGPPPTVSQMLSVKRQQQQQHSPA
PPPQQVQVQVQQPQQVQMQVQPQQSNAGVGQPASGESSLIKQLLLPKRGPSTPGGKLILP
APQIPPPNNARAPSPQVVYQVASNQAAGFGVQGQTPAQQLLVGQQNVQLVPSAMPPSGGV
QTVPISNLQILPGPLISNSPATIFQGTSGNQVTITVVPNTSFAPATVSQGNATQLIAPAG
ITMSGTQTGVGLPVQTLPATQASPAGQSSCTTATPPFKGDKIICQKEEEAKEATGLHVHE
RKIEVMENPSCRRGATNTSNGDTKENEMHVGSLLNGRKYSDSSLPPSNSGKIQSETNQCS
LISNGPSLELGENGASGKQNSEQIDMQDIKSDLRKPLVNGICDFDKGDGSHLSKNIPNHK
TSNHVGNGEISPMEPQGTLDITQQDTAKGDQLERISNGPVLTLGGSSVSSIQEASNAATQ
QFSGTDLLNGPLASSLNSDVPQQRPSVVVSPHSTTSVIQGHQIIAVPDSGSKVSHSPALS
SDVRSTNGTAECKTVKRPAEDTDRETVAGIPNKVGVRIVTISDPNNAGCSATMVAVPAGA
DPSTVAKVAIESAVQQKQQHPPTYVQNVVPQNTPMPPSPAVQVQGQPNSSQPSPFSGSSQ
PGDPMRKPGQNFMCLWQSCKKWFQTPSQVFYHAATEHGGKDVYPGQCLWEGCEPFQRQRF
SFITHLQDKHCSKDALLAGLKQDEPGQAGSQKSSTKQPTVGGTSSTPRAQKAIVNHPSAA
LMALRRGSRNLVFRDFTDEKEGPITKHIRLTAALILKNIGKYSECGRRLLKRHENNLSVL
AISNMEASSTLAKCLYELNFTVQSKEQEKDSEMLQ

Sequence length

1835

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling Hepatocellular carcinoma		RMTs methylate histone arginines RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

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)

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ARID2-related BAFopathy	Likely pathogenic; Pathogenic	rs1943228378, rs1944306056, rs2137959875, rs2138132429, rs2138132620, rs2138150784, rs1343039962, rs2138166428	RCV001533065 RCV001533071 RCV001533064 RCV001533066 RCV001533067 RCV001533068 RCV001533069 RCV001533070 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ARID2-related disorder	Likely pathogenic	rs2547657751	RCV003402369	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic diarrhea	Likely pathogenic	rs2138232693	RCV001526573	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coffin-Siris syndrome 6	Likely pathogenic; Pathogenic	rs1943228378, rs1944306056, rs2137959683, rs2138082983, rs2138162739, rs2138170893, rs2138174785, rs2138181920, rs113548014, rs2138180455, rs2138168418, rs2137959601, rs2138136386, rs2138177931, rs2138162523 View all (30 more)	RCV001332971 RCV001337023 RCV001523772 RCV001523773 RCV001523774 View all (40 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Desmoplastic/nodular medulloblastoma	Pathogenic	rs2138157209	RCV003232629	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic	rs79280775	RCV005912571	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma non-WNT/non-SHH group 4	Likely pathogenic	rs1592121202	RCV006254178	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma WNT activated	Pathogenic	rs774801990	RCV006254096	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2138130716	RCV002274395	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs79280775, rs2138165644	RCV001374931 RCV001780017	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adenoid cystic carcinoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Castleman-Kojima disease	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coffin-Siris syndrome	Uncertain significance	ClinVar ClinGen, Disgenet, GWAS catalog, Orphanet ClinGen, Disgenet, GWAS catalog, Orphanet ClinGen, Disgenet, GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COFFIN-SIRIS SYNDROME 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA, ANASARCA, FEVER, RENAL INSUFFICIENCY, ORGANOMEGALY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (124)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenoid Cystic Carcinoma	Adenocarcinoma	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	26998897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	29482581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anterior pituitary dysgenesis	Anterior Pituitary Dysgenesis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	27203213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	BEFREE	15630133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31260720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behavioral tic	Tourette syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	37248276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33592583, 38003265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	38369186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25502816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	29422640	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	32487254	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21822264, 28648284, 31173963, 32113157, 36530029	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	28648284, 33579226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	28124119, 29698805, 30838730		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coffin-Siris syndrome	Coffin-Siris Syndrome	ORPHANET_DG	28124119		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coffin-Siris syndrome	Coffin-Siris Syndrome	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COFFIN-SIRIS SYNDROME 6	Coffin-Siris syndrome	CLINVAR_DG	26238514		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colonic Diseases	Colonic disease	Pubtator	28179590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	29303768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	35046897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	29256978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37248276, 38453051	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30462533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30462533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28944851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30462533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30462533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15985610, 26238514, 28124119, 28884947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26812616	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	16200587	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	35239432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	33707617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31456919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26238514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	21822264	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	37181702	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	BEFREE	29698805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26238514, 27748065, 28124119, 28884947, 29698805, 30838730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	29698805, 34706719	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	28944851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30462533		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	29482581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32323795, 34042280	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21822264, 22095441, 24379610, 25526364, 25701229, 26169693, 27035278, 27351279, 28238438, 28498550, 28648284, 30519319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21822264, 22634756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	27351279, 28498550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28494807, 33407425, 36567903	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	38013304	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	23047306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23047306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24585446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26637902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14757431, 23047306, 28238438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22817889, 25393105, 36739402	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23047306, 30838730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	27834349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	31918270	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	37181702	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12091118, 21822264, 22095441, 24382590, 25393105, 27351279, 28238438, 28498550, 29691417, 30474112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23047306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	11677065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28648284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	37181702	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	27100062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	BEFREE	27328068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	30905357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	30905357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24585446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28710524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	11677065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28443529, 28516227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	33880365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31918270	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24292195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26637902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27270314, 33481850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	38275291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Toenail Dystrophy Isolated	Nail dystrophy	Pubtator	29698805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36870308	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group G	Xeroderma Pigmentosum	BEFREE	28238438		★★★★★ ★☆☆☆☆ Found in Text Mining only

ARID2 (AT-rich interaction domain 2)