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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6597
Gene name	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
Gene symbol	SMARCA4
Synonyms (NCBI Gene)	BAF190BAF190ABRG1CSS4MRD16OTSC12RTPS2SNF2SNF2-betaSNF2L4SNF2LBSWI2hSNF2b
Chromosome	19
Chromosome location	19p13.2
Summary	The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by alt

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SNP ID	Visualize variation	Clinical significance	Consequence
rs115992445	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs117611401	C>A,G,T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs141259126	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs141806282	T>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs145867502	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs182644267	G>A,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs199847974	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs267607070	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs281875226	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs281875227	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281875228	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs281875229	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs281875230	C>G	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs372319442	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs372410282	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs376775933	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs573885719	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs587777460	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587777461	G>A	Pathogenic	Splice donor variant
rs587777462	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587777463	C>A,G,T	Uncertain-significance, pathogenic	Intron variant
rs587777464	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587779750	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs758517117	C>A,T	Pathogenic, likely-benign	Synonymous variant, stop gained, coding sequence variant, non coding transcript variant
rs770014321	C>A,T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs770680174	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs780424104	AG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797044856	G>C	Likely-pathogenic	Splice donor variant
rs797045980	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045982	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045984	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs797045987	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs869312964	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs876657378	AAG>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs878854224	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs898406635	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs972341316	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1057518049	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs1057521113	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057524208	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057524559	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1060499936	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1060502085	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1060502086	G>C,T	Likely-pathogenic, uncertain-significance	Splice donor variant, intron variant
rs1060502088	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1060502102	G>A	Likely-pathogenic	Splice acceptor variant
rs1064794284	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1064794535	AGTACT>GGC	Likely-pathogenic	Coding sequence variant, inframe indel, non coding transcript variant
rs1064795105	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1064795161	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1064796254	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs1064796885	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1085307556	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1085307769	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1131691371	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1295192121	C>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs1342399494	AGAA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1469271544	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1475054297	T>A,C	Likely-pathogenic	Splice donor variant
rs1489795776	T>A,C	Pathogenic	Splice donor variant
rs1555754177	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555754293	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555755067	CCGCA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555756326	TGA>-	Pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs1555757738	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555763642	C>G,T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs1555763780	AAAA>-,A	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, inframe deletion
rs1555771571	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555773269	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555774631	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555774702	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555774786	G>A	Likely-pathogenic	Splice donor variant
rs1555778709	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555778812	T>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555778828	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555784468	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555784586	G>A,C	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555785054	G>A	Likely-pathogenic	Splice donor variant
rs1555785056	T>C	Likely-pathogenic	Splice donor variant
rs1555787120	GG>C	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555795091	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555795884	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568419675	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568422286	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568430280	A>C	Likely-pathogenic	Splice acceptor variant
rs1568455217	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568462513	A>G	Likely-pathogenic	Splice acceptor variant
rs1568486679	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568498107	G>T	Likely-pathogenic	Splice acceptor variant
rs1599941421	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1599942345	T>G	Likely-pathogenic	Splice donor variant
rs1600068013	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600082188	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600278307	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600300837	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600301361	G>T	Likely-pathogenic	Splice donor variant
rs1600335765	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1600365455	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1600388982	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600389034	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1600394246	G>C	Likely-pathogenic	Intron variant, splice donor variant
rs1600407324	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600644179	TGACAGTGAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600644640	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006516	hsa-miR-21-5p	Luciferase reporter assayqRT-PCRWestern blot	21317927
MIRT006516	hsa-miR-21-5p	Luciferase reporter assayqRT-PCRWestern blot	21317927
MIRT006516	hsa-miR-21-5p	Luciferase reporter assayqRT-PCRWestern blot	21317927
MIRT006516	hsa-miR-21-5p	Luciferase reporter assayqRT-PCRWestern blot	21317927
MIRT020993	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT025405	hsa-miR-34a-5p	Proteomics	21566225
MIRT025405	hsa-miR-34a-5p	Proteomics	21566225
MIRT025405	hsa-miR-34a-5p	Proteomics	21566225
MIRT027823	hsa-miR-98-5p	Microarray	19088304
MIRT032484	hsa-let-7b-5p	Proteomics	18668040
MIRT032484	hsa-let-7b-5p	CLASH	23622248
MIRT051309	hsa-miR-16-5p	CLASH	23622248
MIRT046781	hsa-miR-222-3p	CLASH	23622248
MIRT039649	hsa-miR-615-3p	CLASH	23622248
MIRT039649	hsa-miR-615-3p	CLASH	23622248
MIRT039649	hsa-miR-615-3p	CLASH	23622248
MIRT038217	hsa-miR-342-5p	CLASH	23622248
MIRT020993	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT020993	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT731821	hsa-miR-139-5p	Northern blotqRT-PCRWestern blot	27605510
MIRT731821	hsa-miR-139-5p	Northern blotqRT-PCRWestern blot	27605510
MIRT020993	hsa-miR-155-5p	qRT-PCRWestern blot	28251496
MIRT1371447	hsa-miR-100	CLIP-seq
MIRT1371448	hsa-miR-1299	CLIP-seq
MIRT1371449	hsa-miR-3145-5p	CLIP-seq
MIRT1371450	hsa-miR-3184	CLIP-seq
MIRT1371451	hsa-miR-3691-3p	CLIP-seq
MIRT1371452	hsa-miR-423-5p	CLIP-seq
MIRT1371453	hsa-miR-4283	CLIP-seq
MIRT1371454	hsa-miR-4639-5p	CLIP-seq
MIRT1371455	hsa-miR-4686	CLIP-seq
MIRT1371456	hsa-miR-4738-3p	CLIP-seq
MIRT1371457	hsa-miR-4753-5p	CLIP-seq
MIRT1371458	hsa-miR-4766-5p	CLIP-seq
MIRT1371459	hsa-miR-508-5p	CLIP-seq
MIRT1371460	hsa-miR-875-3p	CLIP-seq
MIRT1371461	hsa-miR-99a	CLIP-seq
MIRT1371462	hsa-miR-99b	CLIP-seq
MIRT2110191	hsa-miR-101	CLIP-seq
MIRT2110192	hsa-miR-1825	CLIP-seq
MIRT2110193	hsa-miR-184	CLIP-seq
MIRT2110194	hsa-miR-199a-5p	CLIP-seq
MIRT2110195	hsa-miR-199b-5p	CLIP-seq
MIRT2110196	hsa-miR-208a	CLIP-seq
MIRT2110197	hsa-miR-208b	CLIP-seq
MIRT2110198	hsa-miR-296-5p	CLIP-seq
MIRT2110199	hsa-miR-3117-5p	CLIP-seq
MIRT2110200	hsa-miR-3163	CLIP-seq
MIRT2110201	hsa-miR-323b-3p	CLIP-seq
MIRT2110202	hsa-miR-3617	CLIP-seq
MIRT2110203	hsa-miR-3661	CLIP-seq
MIRT2110204	hsa-miR-3913-3p	CLIP-seq
MIRT2110205	hsa-miR-4256	CLIP-seq
MIRT2110206	hsa-miR-4266	CLIP-seq
MIRT2110207	hsa-miR-4285	CLIP-seq
MIRT2110208	hsa-miR-4695-5p	CLIP-seq
MIRT2110209	hsa-miR-4707-5p	CLIP-seq
MIRT2110210	hsa-miR-4779	CLIP-seq
MIRT2110211	hsa-miR-4804-5p	CLIP-seq
MIRT2110212	hsa-miR-489	CLIP-seq
MIRT2110213	hsa-miR-499-5p	CLIP-seq
MIRT2110214	hsa-miR-514	CLIP-seq
MIRT2110215	hsa-miR-514b-3p	CLIP-seq
MIRT2110216	hsa-miR-631	CLIP-seq
MIRT2110217	hsa-miR-641	CLIP-seq
MIRT2110218	hsa-miR-765	CLIP-seq
MIRT1371447	hsa-miR-100	CLIP-seq
MIRT2110191	hsa-miR-101	CLIP-seq
MIRT2333770	hsa-miR-1202	CLIP-seq
MIRT2333771	hsa-miR-1278	CLIP-seq
MIRT2333772	hsa-miR-132	CLIP-seq
MIRT2110192	hsa-miR-1825	CLIP-seq
MIRT2333773	hsa-miR-191	CLIP-seq
MIRT2333774	hsa-miR-1910	CLIP-seq
MIRT2110194	hsa-miR-199a-5p	CLIP-seq
MIRT2110195	hsa-miR-199b-5p	CLIP-seq
MIRT2333775	hsa-miR-212	CLIP-seq
MIRT2110198	hsa-miR-296-5p	CLIP-seq
MIRT2110199	hsa-miR-3117-5p	CLIP-seq
MIRT1371449	hsa-miR-3145-5p	CLIP-seq
MIRT2110200	hsa-miR-3163	CLIP-seq
MIRT2333776	hsa-miR-3194-5p	CLIP-seq
MIRT2110201	hsa-miR-323b-3p	CLIP-seq
MIRT2110203	hsa-miR-3661	CLIP-seq
MIRT2333777	hsa-miR-3688-3p	CLIP-seq
MIRT1371451	hsa-miR-3691-3p	CLIP-seq
MIRT2110204	hsa-miR-3913-3p	CLIP-seq
MIRT2333778	hsa-miR-3960	CLIP-seq
MIRT2333779	hsa-miR-3972	CLIP-seq
MIRT2110205	hsa-miR-4256	CLIP-seq
MIRT2110207	hsa-miR-4285	CLIP-seq
MIRT2333780	hsa-miR-4328	CLIP-seq
MIRT2333781	hsa-miR-452	CLIP-seq
MIRT1371454	hsa-miR-4639-5p	CLIP-seq
MIRT2333782	hsa-miR-4676-3p	CLIP-seq
MIRT1371455	hsa-miR-4686	CLIP-seq
MIRT2333783	hsa-miR-4693-5p	CLIP-seq
MIRT2333784	hsa-miR-4699-5p	CLIP-seq
MIRT2110209	hsa-miR-4707-5p	CLIP-seq
MIRT2333785	hsa-miR-4709-5p	CLIP-seq
MIRT2333786	hsa-miR-4718	CLIP-seq
MIRT1371456	hsa-miR-4738-3p	CLIP-seq
MIRT1371457	hsa-miR-4753-5p	CLIP-seq
MIRT2333787	hsa-miR-4775	CLIP-seq
MIRT2333788	hsa-miR-4789-5p	CLIP-seq
MIRT2110212	hsa-miR-489	CLIP-seq
MIRT1371459	hsa-miR-508-5p	CLIP-seq
MIRT2110214	hsa-miR-514	CLIP-seq
MIRT2110215	hsa-miR-514b-3p	CLIP-seq
MIRT2333789	hsa-miR-556-3p	CLIP-seq
MIRT2333790	hsa-miR-568	CLIP-seq
MIRT2333791	hsa-miR-582-5p	CLIP-seq
MIRT2333792	hsa-miR-606	CLIP-seq
MIRT2110216	hsa-miR-631	CLIP-seq
MIRT2333793	hsa-miR-7	CLIP-seq
MIRT2333794	hsa-miR-942	CLIP-seq
MIRT1371461	hsa-miR-99a	CLIP-seq
MIRT1371462	hsa-miR-99b	CLIP-seq
MIRT1371447	hsa-miR-100	CLIP-seq
MIRT2394856	hsa-miR-155	CLIP-seq
MIRT1371455	hsa-miR-4686	CLIP-seq
MIRT1371456	hsa-miR-4738-3p	CLIP-seq
MIRT1371458	hsa-miR-4766-5p	CLIP-seq
MIRT1371461	hsa-miR-99a	CLIP-seq
MIRT1371462	hsa-miR-99b	CLIP-seq
MIRT1371447	hsa-miR-100	CLIP-seq
MIRT1371448	hsa-miR-1299	CLIP-seq
MIRT1371454	hsa-miR-4639-5p	CLIP-seq
MIRT1371455	hsa-miR-4686	CLIP-seq
MIRT1371456	hsa-miR-4738-3p	CLIP-seq
MIRT1371457	hsa-miR-4753-5p	CLIP-seq
MIRT1371460	hsa-miR-875-3p	CLIP-seq
MIRT1371461	hsa-miR-99a	CLIP-seq
MIRT1371462	hsa-miR-99b	CLIP-seq
MIRT2110191	hsa-miR-101	CLIP-seq
MIRT2691412	hsa-miR-144	CLIP-seq
MIRT2110198	hsa-miR-296-5p	CLIP-seq
MIRT2110200	hsa-miR-3163	CLIP-seq
MIRT2110201	hsa-miR-323b-3p	CLIP-seq
MIRT2110203	hsa-miR-3661	CLIP-seq
MIRT2110205	hsa-miR-4256	CLIP-seq
MIRT2110206	hsa-miR-4266	CLIP-seq
MIRT2110207	hsa-miR-4285	CLIP-seq
MIRT2110208	hsa-miR-4695-5p	CLIP-seq
MIRT2110209	hsa-miR-4707-5p	CLIP-seq
MIRT2110210	hsa-miR-4779	CLIP-seq
MIRT2110216	hsa-miR-631	CLIP-seq
MIRT2110218	hsa-miR-765	CLIP-seq

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Transcription factor	Regulation	Reference
STAT1	Unknown	16195385

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	17938176, 19149898
GO:0000776	Component	Kinetochore	NAS	11078522
GO:0000785	Component	Chromatin	HDA	16217013
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	12065415, 15774904
GO:0000785	Component	Chromatin	NAS	12192000, 29374058
GO:0001164	Function	RNA polymerase I core promoter sequence-specific DNA binding	IDA	22368283
GO:0001188	Process	RNA polymerase I preinitiation complex assembly	IEA
GO:0001221	Function	Transcription coregulator binding	IPI	14701856, 22368283
GO:0001650	Component	Fibrillar center	IDA
GO:0002039	Function	P53 binding	IPI	11950834
GO:0003407	Process	Neural retina development	IEP	18816825
GO:0003677	Function	DNA binding	IBA
GO:0003682	Function	Chromatin binding	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	11950834, 15774904
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IMP	16687403
GO:0003713	Function	Transcription coactivator activity	NAS	8804307
GO:0003714	Function	Transcription corepressor activity	IDA	18487222, 20418909
GO:0003723	Function	RNA binding	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0004386	Function	Helicase activity	TAS	8208605
GO:0005515	Function	Protein binding	IPI	10078207, 11726552, 11780067, 11988099, 12065415, 12192000, 12200431, 12368262, 12917342, 14701856, 15985610, 16051670, 16687403, 17984088, 18303029, 19149898, 19571879, 20224553, 20418909, 22140357, 23022380, 23540691, 24434208, 24550003, 24981860, 28420882, 28514442, 28649782, 301
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	8232556, 11726552, 20418909, 22368283, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS	34910916
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	22368283
GO:0006325	Process	Chromatin organization	IEA
GO:0006337	Process	Nucleosome disassembly	IDA	8895581
GO:0006338	Process	Chromatin remodeling	HDA	16217013
GO:0006338	Process	Chromatin remodeling	IC	18816825
GO:0006338	Process	Chromatin remodeling	IDA	10943845, 11726552
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	IMP	22368283
GO:0006338	Process	Chromatin remodeling	NAS	10078207, 29374058
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	8804307, 11263494, 17340523, 17920018, 18809673, 29374058
GO:0007399	Process	Nervous system development	IEA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IEA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IGI	8232556
GO:0008284	Process	Positive regulation of cell population proliferation	NAS	29374058
GO:0016020	Component	Membrane	HDA	19946888
GO:0016363	Component	Nuclear matrix	NAS	9128241
GO:0016514	Component	SWI/SNF complex	IDA	8804307, 8895581, 10943845, 11078522, 11950834, 29374058
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016514	Component	SWI/SNF complex	NAS	8804307
GO:0016586	Component	RSC-type complex	NAS	8804307
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	23698369, 25066234
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IMP	19571879
GO:0030308	Process	Negative regulation of cell growth	IEA
GO:0030308	Process	Negative regulation of cell growth	IMP	12065415
GO:0030957	Function	Tat protein binding	IPI	16687403
GO:0031492	Function	Nucleosomal DNA binding	HDA	16217013
GO:0031507	Process	Heterochromatin formation	IBA
GO:0032991	Component	Protein-containing complex	HDA	16217013
GO:0042393	Function	Histone binding	IEA
GO:0042802	Function	Identical protein binding	IPI	12917342, 35512704
GO:0043923	Process	Host-mediated activation of viral transcription	IMP	16687403
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
GO:0045596	Process	Negative regulation of cell differentiation	NAS	30510198
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11790558, 12368262
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	11175787, 15985610
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	ISS	34910916
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12065415
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	18487222
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	8208605
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11950834, 15774904, 17938176
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	8232556
GO:0050681	Function	Nuclear androgen receptor binding	IPI	18487222
GO:0060766	Process	Negative regulation of androgen receptor signaling pathway	IMP	18487222
GO:0070182	Function	DNA polymerase binding	IPI	19571879
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0071564	Component	NpBAF complex	IDA	18816825
GO:0071564	Component	NpBAF complex	ISS
GO:0071564	Component	NpBAF complex	NAS	8804307
GO:0071565	Component	NBAF complex	ISS
GO:0071565	Component	NBAF complex	NAS	17920018
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	34910916
GO:0140092	Component	BBAF complex	NAS	12368262
GO:0140288	Component	GBAF complex	NAS	29374058
GO:0140658	Function	ATP-dependent chromatin remodeler activity	ISS	34910916
GO:0140750	Function	Nucleosome array spacer activity	IBA
GO:1901798	Process	Positive regulation of signal transduction by p53 class mediator	IDA	17938176
GO:1901838	Process	Positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP	22368283
GO:1902459	Process	Positive regulation of stem cell population maintenance	NAS	19279220, 30510198
GO:1902661	Process	Positive regulation of glucose mediated signaling pathway	IDA	22368283
GO:1902895	Process	Positive regulation of miRNA transcription	IMP	25569094
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	16932743, 25066234
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

MIM	HGNC	e!Ensembl
603254	11100	ENSG00000127616

P51532

Protein name

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4 (SMARCA4) (EC 3.6.4.-) (BRG1-associated factor 190A) (BAF190A) (Mitotic growth and transcription activator) (Protein BRG-1) (Protein brahma homolog 1) (SNF2-beta

Protein function

ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing c

PDB

2GRC , 2H60 , 3UVD , 5DKD , 5EA1 , 6BGH , 6HR2 , 6LTH , 6LTJ , 6SY2 , 6ZS2 , 7TAB , 7TD9 , 7VDT , 7VDV , 7VRB , 7Y8R , 8EB1 , 8G1Q , 8QJR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08880	QLQ	171 → 205	QLQ	Domain
PF07529	HSA	461 → 531	HSA	Domain
PF07533	BRK	611 → 654	BRK domain	Domain
PF00176	SNF2_N	728 → 1052	SNF2 family N-terminal domain	Family
PF00271	Helicase_C	1080 → 1194	Helicase conserved C-terminal domain	Family
PF14619	SnAC	1322 → 1389	Snf2-ATP coupling, chromatin remodelling complex	Domain
PF00439	Bromodomain	1462 → 1551	Bromodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Colocalizes with ZEB1 in E-cadherin-negative cells from established lines, and stroma of normal colon as well as in de-differentiated epithelial cells at the invasion front of colorectal carcinomas (at protein level). {ECO:0000269|PubM

Sequence

MSTPDPPLGGTPRPGPSPGPGPSPGAMLGPSPGPSPGSAHSMMGPSPGPPSAGHPIPTQG
PGGYPQDNMHQMHKPMESMHEKGMSDDPRYNQMKGMGMRSGGHAGMGPPPSPMDQHSQGY
PSPLGGSEHASSPVPASGPSSGPQMSSGPGGAPLDGADPQALGQQNRGPTPFNQNQLHQL
RAQIMAYKMLARGQPLPDHLQMAVQGKRPMPGMQQQMPTLPPPSVSATGPGPGPGPGPGP
GPGPAPPNYSRPHGMGGPNMPPPGPSGVPPGMPGQPPGGPPKPWPEGPMANAAAPTSTPQ
KLIPPQPTGRPSPAPPAVPPAASPVMPPQTQSPGQPAQPAPMVPLHQKQSRITPIQKPRG
LDPVEILQEREYRLQARIAHRIQELENLPGSLAGDLRTKATIELKALRLLNFQRQLRQEV
VVCMRRDTALETALNAKAYKRSKRQSLREARITEKLEKQQKIEQERKRRQKHQEYLNSIL
QHAKDFKEYHRSVTGKIQKLTKAVATYHANTEREQKKENERIEKERMRRLMAEDEEGYRK
LIDQKKDKRLAYLLQQTDEYVANLTELVRQHKAAQVAKEKKKKKKKKKAENAEGQTPAIG
PDGEPLDETSQMSDLPVKVIHVESGKILTGTDAPKAGQLEAWLEMNPGYEVAPRSDSEES
GSEEEEEEEEEEQPQAAQPPTLPVEEKKKIPDPDSDDVSEVDARHIIENAKQDVDDEYGV
SQALARGLQSYYAVAHAVTERVDKQSALMVNGVLKQYQIKGLEWLVSLYNNNLNGILADE
MGLGKTIQTIALITYLMEHKRINGPFLIIVPLSTLSNWAYEFDKWAPSVVKVSYKGSPAA
RRAFVPQLRSGKFNVLLTTYEYIIKDKHILAKIRWKYMIVDEGHRMKNHHCKLTQVLNTH
YVAPRRLLLTGTPLQNKLPELWALLNFLLPTIFKSCSTFEQWFNAPFAMTGEKVDLNEEE
TILIIRRLHKVLRPFLLRRLKKEVEAQLPEKVEYVIKCDMSALQRVLYRHMQAKGVLLTD
GSEKDKKGKGGTKTLMNTIMQLRKICNHPYMFQHIEESFSEHLGFTGGIVQGLDLYRASG
KFELLDRILPKLRATNHKVLLFCQMTSLMTIMEDYFAYRGFKYLRLDGTTKAEDRGMLLK
TFNEPGSEYFIFLLSTRAGGLGLNLQSADTVIIFDSDWNPHQDLQAQDRAHRIGQQNEVR
VLRLCTVNSVEEKILAAAKYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEQDESR
HCSTGSGSASFAHTAPPPAGVNPDLEEPPLKEEDEVPDDETVNQMIARHEEEFDLFMRMD
LDRRREEARNPKRKPRLMEEDELPSWIIKDDAEVERLTCEEEEEKMFGRGSRHRKEVDYS
DSLTEKQWLKAIEEGTLEEIEEEVRQKKSSRKRKRDSDAGSSTPTTSTRSRDKDDESKKQ
KKRGRPPAEKLSPNPPNLTKKMKKIVDAVIKYKDSSSGRQLSEVFIQLPSRKELPEYYEL
IRKPVDFKKIKERIRNHKYRSLNDLEKDVMLLCQNAQTFNLEGSLIYEDSIVLQSVFTSV
RQKIEKEDDSEGEESEEEEEGEEEGSESESRSVKVKIKLGRKEKAQDRLKGGRRRPSRGS
RAKPVVSDDDSEEEQEEDRSGSGSEED

Sequence length

1647

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma		Interleukin-7 signaling Formation of the beta-catenin:TCF transactivating complex RMTs methylate histone arginines Chromatin modifying enzymes RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known EGR2 and SOX10-mediated initiation of Schwann cell myelination

9405

Show/Hide Causal Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autistic behavior	Likely pathogenic	rs2086880392	RCV001254792
Childhood neoplasm	Likely pathogenic	rs2145936823	RCV003326285
Cleft palate	Likely pathogenic; Pathogenic	rs797045981	RCV001261245
Global developmental delay	Likely pathogenic	rs2087029320	RCV001254793
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2146603666, rs1475054297, rs2145779070, rs1555774786, rs2145775805, rs2146473376, rs2146423140, rs2146678594, rs587777460, rs2145938835, rs2146541571, rs2145753179, rs2515320719, rs2146699322, rs2515349166 View all (63 more)	RCV002341818 RCV002350724 RCV004951662 RCV002458570 RCV003289269 RCV002441004 RCV002440990 RCV004044357 RCV002453459 RCV002388863 RCV002257267 RCV002454859 RCV002355644 RCV002359585 RCV002357824 RCV002335173 RCV002342148 RCV002342281 RCV002337806 RCV002396235 RCV002416582 RCV002430191 RCV002419517 RCV002364916 RCV002403610 RCV002410392 RCV002398984 RCV002408050 RCV002410543 RCV002420119 RCV002428301 RCV002435399 RCV002435781 RCV001016793 RCV006292256 RCV003340540 RCV004948206 RCV003338458 RCV004020342 RCV001020623 RCV002327120 RCV003177602 RCV003177639 RCV003177644 RCV003177646 RCV003311092 RCV003278355 RCV003311099 RCV003326285 RCV003339170 RCV003339171 RCV004950559 RCV004523706 RCV004523714 RCV004523718 RCV004523729 RCV004523730 RCV004523734 RCV004525731 RCV000568863 RCV000572178 RCV000565075 RCV004025717 RCV002369719 RCV005492865 RCV001022708 RCV004950000 RCV002440625 RCV001018024 RCV001011842 RCV001017989 RCV001019597 RCV001020443 RCV001020608 RCV001021960 RCV001020584 RCV001018896 RCV005732271 RCV004679000 RCV002436951
Intellectual disability	Likely pathogenic	rs2086880392	RCV001254792
Intellectual disability, autosomal dominant 16	Likely pathogenic; Pathogenic	rs2145970607, rs778175819, rs2146600868, rs2145938426, rs587779750, rs2146359668, rs2146360458, rs2146497910, rs2146373452, rs2146419846, rs2146417384, rs2145937134, rs1165714406, rs2146475644, rs797045981 View all (14 more)	RCV003444023 RCV003399330 RCV001716248 RCV001785389 RCV000114304 RCV001823049 RCV001838840 RCV002254371 RCV002254834 RCV002271998 RCV002272681 RCV002272683 RCV005025808 RCV002465394 RCV000760284 RCV003134135 RCV003152856 RCV003885324 RCV003985235 RCV000455885 RCV000023284 RCV000023286 RCV000023287 RCV000023288 RCV000023289 RCV000504508 RCV000680104 RCV000760243 RCV000995875
Lung cancer	Likely pathogenic	rs1555774786	RCV005920694
Medulloblastoma WNT activated	Likely pathogenic	rs778175819, rs587779750, rs2089893983	RCV006254279 RCV006253794 RCV006254258
Neoplasm	Likely pathogenic; Pathogenic	rs2146541571, rs1568498107	RCV004673654 RCV004669100
Neuroblastoma	Likely pathogenic	rs1469271544	RCV000722032
Otosclerosis 12	Pathogenic	rs1165714406	RCV005025808
Rhabdoid tumor predisposition syndrome 2	Likely pathogenic; Pathogenic	rs2145722767, rs2146238910, rs2146603666, rs2146647668, rs1475054297, rs2145752321, rs2145779070, rs2146234214, rs2146422656, rs2146497558, rs2146700981, rs867740591, rs2145775805, rs1308562238, rs2145815261 View all (133 more)	RCV001379777 RCV001379457 RCV001376824 RCV001379737 RCV001377592 RCV001387600 RCV001384987 RCV001382484 RCV001384833 RCV001385228 RCV001387027 RCV002035887 RCV001946401 RCV001990550 RCV001907283 RCV002032257 RCV001939387 RCV001941759 RCV002025422 RCV001955626 RCV001908816 RCV001919685 RCV001903188 RCV002037902 RCV000128402 RCV000128403 RCV000128404 RCV000128405 RCV000128406 RCV001897427 RCV001891703 RCV001942087 RCV002042909 RCV001929323 RCV001972868 RCV001904724 RCV001952920 RCV001966675 RCV002246730 RCV003774779 RCV003094417 RCV003099841 RCV003118012 RCV002800999 RCV002824314 RCV002801785 RCV002801824 RCV002834794 RCV002876398 RCV000193167 RCV000760284 RCV000194222 RCV000194866 RCV002857740 RCV002881065 RCV002999972 RCV002996087 RCV003007598 RCV003006074 RCV002996873 RCV000006932 RCV003046491 RCV003019678 RCV003037811 RCV003031392 RCV003026999 RCV003045555 RCV003030389 RCV003066055 RCV000232997 RCV005102803 RCV003466400 RCV003463557 RCV003466406 RCV003508044 RCV003507598 RCV003507530 RCV003508017 RCV003508239 RCV003507733 RCV003507931 RCV003507932 RCV003618134 RCV003618583 RCV003618526 RCV003618548 RCV003617319 RCV003617332 RCV003618730 RCV003617311 RCV003617355 RCV003617406 RCV003617453 RCV003617360 RCV003617626 RCV003992643 RCV004566526 RCV004573656 RCV003766476 RCV000471726 RCV000466062 RCV005090940 RCV000505549 RCV000533033 RCV000559694 RCV000813893 RCV000646854 RCV000646849 RCV000646869 RCV000646820 RCV000646901 RCV000646815 RCV000646878 RCV000646868 RCV005091886 RCV001523822 RCV000696040 RCV000698491 RCV000704323 RCV000707365 RCV000687522 RCV000695269 RCV000687557 RCV000755043 RCV000760243 RCV001856208 RCV000819290 RCV000793323 RCV000792175 RCV000822116 RCV000804659 RCV001381298 RCV001062353 RCV001067462 RCV001047934 RCV001035961 RCV001059594 RCV001067641 RCV001060858 RCV001049457 RCV001040671 RCV001059461 RCV001059502 RCV001095764 RCV001210253 RCV001202267 RCV001209102 RCV001205642 RCV001216303 RCV001242306 RCV001247974 RCV001238202
SMARCA4-related BAFopathy	Likely pathogenic; Pathogenic	rs2145970607, rs2145971047, rs1431755388, rs778175819, rs2146543069, rs797045981, rs770680174	RCV001533107 RCV001533124 RCV001533125 RCV001533129 RCV001533131 RCV001533130 RCV001533132
SMARCA4-related disorder	Pathogenic; Likely pathogenic	rs1568528491, rs770014321, rs972341316, rs1600300837, rs2089893983	RCV004725464 RCV004722842 RCV003392397 RCV004746198 RCV004746303

Show/Hide Unknown Diseases (48)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs116337692, rs56101423, rs190104006	RCV005917725 RCV005892386 RCV005894763
Adrenal cortex carcinoma	-	rs1555752030	RCV004813268
Astrocytoma IDH-mutant	Uncertain significance	rs1568509370	RCV006254138
Atrial septal defect	Conflicting classifications of pathogenicity	rs1085307769	RCV001254794
bilateral breast cancer	Conflicting classifications of pathogenicity	rs150949949	RCV001005023
Cerebral palsy	Uncertain significance	rs2090378511	RCV001254795
Cervical cancer	Conflicting classifications of pathogenicity	rs117611401	RCV005892377
Clear cell carcinoma of kidney	-; Conflicting classifications of pathogenicity; Benign; Likely benign	rs2146647632, rs117611401, rs56101423	RCV005922507 RCV005892378 RCV005892388
Coffin-Siris syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs140192268, rs17001073, rs115492175, rs17001075, rs7935, rs28997582, rs139505007, rs9105, rs7275, rs149573400, rs146141457, rs200664441, rs375884151, rs376775933, rs62639303 View all (81 more)	RCV000358151 RCV000304628 RCV000269514 RCV000383885 RCV000264120 RCV000343711 RCV000370721 RCV000330274 RCV000287003 RCV000293616 RCV000350896 RCV000382351 RCV000260667 RCV000264082 RCV001128449 RCV000297305 RCV000361817 RCV000334274 RCV000294361 RCV000345652 RCV001128550 RCV000265802 RCV000262228 RCV000383134 RCV000285168 RCV000267497 RCV000385817 RCV001126486 RCV000395804 RCV000288687 RCV000395078 RCV001126400 RCV000324955 RCV000290224 RCV000347624 RCV001122753 RCV000336152 RCV000397430 RCV000326927 RCV000319221 RCV000373848 RCV001126487 RCV001128549 RCV000302262 RCV000317561 RCV000353618 RCV000332767 RCV000292345 RCV001122846 RCV000340569 RCV001123934 RCV000276173 RCV000271710 RCV000381443 RCV000321539 RCV000378433 RCV000279357 RCV000309703 RCV000277725 RCV000355759 RCV000378073 RCV000394535 RCV000318273 RCV000356748 RCV000402753 RCV000265922 RCV000349254 RCV000403781 RCV000356944 RCV000386742 RCV000328582 RCV000395062 RCV000300912 RCV000282974 RCV000314105 RCV000388823 RCV000306143 RCV000360872 RCV000326738 RCV000337989 RCV000390663 RCV000371066 RCV000300983 RCV000406179 RCV000297378 RCV000366321 RCV000323380 RCV000279409 RCV001128551 RCV001122752 RCV001123933 RCV001128552 RCV003483666 RCV001824866 RCV000785081 RCV001128655
Coffin-Siris syndrome 1	Uncertain significance	rs1568566518	RCV000761560
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs117611401	RCV005892375
Delayed speech and language development	Conflicting classifications of pathogenicity	rs1085307769	RCV001254794
Diffuse midline glioma, H3 K27-altered	Uncertain significance	rs1600649855	RCV003313155
Diffuse midline glioma, H3 K27M-mutant	Uncertain significance	rs1600209264	RCV006254183
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Uncertain significance	rs1238758086	RCV006254087
Facial asymmetry	Conflicting classifications of pathogenicity	rs1057518862	RCV000415391
Gastric cancer	Likely benign; Benign	rs757315422, rs748956133, rs56101423, rs190104006	RCV005923991 RCV005868637 RCV005892389 RCV005894764
Glioma susceptibility 1	Likely benign	rs1600644669, rs754575023	RCV005927021 RCV005899476
Hereditary cancer	Conflicting classifications of pathogenicity; Uncertain significance	rs763471007, rs750891894	RCV005230086 RCV003492172
Hereditary nonpolyposis colon cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs377458938, rs141461778, rs374635008, rs111447132, rs190104006, rs17001090, rs113131294, rs369766168, rs1327774042	RCV005361948 RCV005361206 RCV005361395 RCV005355646 RCV005355648 RCV005355647 RCV005355649 RCV005355770 RCV005357599
intellectual deficiency	Conflicting classifications of pathogenicity	rs886054155	RCV000415015
Malignant tumor of breast	Benign; Likely benign	rs190104006	RCV001269362
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs117611401	RCV005892376
Malignant tumor of urinary bladder	Benign; Likely benign	rs56101423	RCV005892387
Medulloblastoma	Uncertain significance	rs1238758086	RCV000505663
Medulloblastoma non-WNT/non-SHH	Uncertain significance	rs1238758086	RCV006254090
Medulloblastoma non-WNT/non-SHH group 3	Conflicting classifications of pathogenicity	rs1227826852, rs1056234449	RCV006254079 RCV006254104
Medulloblastoma SHH activated	Uncertain significance	rs1238758086	RCV006254089
Melanoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs117611401, rs56101423	RCV005892384 RCV005892391
Microcephaly	Uncertain significance	rs2088398438, rs2075063900	RCV001252774 RCV001252916
Nasopharyngeal carcinoma	Uncertain significance	rs1238758086	RCV006254086
Neurodevelopmental disorder	Uncertain significance	rs2145720045, rs1060502094	RCV001780029 RCV002279231
Obesity	Conflicting classifications of pathogenicity	rs886054155	RCV000415015
Ovarian neoplasm	Benign; Likely benign	rs749029481	RCV001839453
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity; Benign	rs116337692, rs117611401, rs190104006, rs559144002	RCV005917726 RCV005892381 RCV005894765 RCV005894762
Sarcoma	Conflicting classifications of pathogenicity	rs117611401	RCV005892380
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs2076916661, rs1600082359, rs2075186524	RCV002252411 RCV004584415 RCV004584434
Seizure	Uncertain significance	rs1555785361	RCV001254796
Single transverse palmar crease	Conflicting classifications of pathogenicity	rs1057518862	RCV000415391
Small cell carcinoma of the ovary, hypercalcemic type	Conflicting classifications of pathogenicity; Likely benign	rs148115492, rs759862377, rs1201612670, rs1311909722	RCV005863062 RCV003483666 RCV003483671 RCV001824866
Squamous cell carcinoma of the head and neck	-	rs2146812598	RCV005920691
Strabismus	Conflicting classifications of pathogenicity	rs1057518862	RCV000415391
Thymoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs117611401, rs190104006	RCV005892383 RCV005894766
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs56101423	RCV005892390
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	rs117611401	RCV005892382
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs116337692, rs56101423	RCV005917728 RCV005892393
Uveal melanoma	Conflicting classifications of pathogenicity	rs117611401	RCV005892379
Ventricular septal defect	Conflicting classifications of pathogenicity	rs1057518862, rs1085307769	RCV000415391 RCV001254794

Show/Hide Text Mining Associations (201)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Achalasia Addisonianism Alacrimia syndrome	Associate	27029062, 27223259
Adenocarcinoma	Inhibit	16998464
Adenocarcinoma	Associate	29522538, 30885352, 31208361, 31906887, 31988001, 33506581, 34432771, 35468657, 37054973, 40101550
Adenocarcinoma Clear Cell	Associate	37697729
Adenocarcinoma Mucinous	Associate	35900231
Adenocarcinoma of Lung	Associate	22975805, 30089603, 31987030, 32083571, 32460018, 32855269, 33107184, 33355651, 34240140, 34675941, 35964518, 40453096
Adenocarcinoma of Lung	Inhibit	23163725
Adenoma Pleomorphic	Associate	36178285
AIDS Dementia Complex	Associate	34205270
Alzheimer Disease	Associate	37895183
Anorectal Malformations	Associate	36474027
Aortic Dissection	Stimulate	26344687
Arthritis Rheumatoid	Associate	28002318, 29848990, 35479077
ATR X syndrome	Associate	39862081
Autism Spectrum Disorder	Associate	28714951, 32661233, 33799280
Autistic Disorder	Associate	37076741
Barrett Esophagus	Associate	37054973
Brachydactyly	Associate	30973214
Brain Neoplasms	Associate	33528916
Breast Neoplasms	Associate	14673169, 15141164, 23533649, 27029062, 27223259, 27390128, 27506935, 30309986, 33692124, 34675941, 35152838
Breast Neoplasms	Inhibit	20333683
Breast Neoplasms Male	Associate	38369186
Burkitt Lymphoma	Associate	23143597, 35794096
Carcinogenesis	Associate	14673169, 21940037, 29750276, 31018240, 33596994, 36902184
Carcinoid Tumor	Associate	38237798
Carcinoma	Associate	28084340, 28731042, 29700418, 31190001, 31751681, 31954538, 32972432, 33481850, 34949765, 35151345, 35278076, 37115272, 37194064, 38059551, 38124509, 38306886, 40275321 View all (2 more)
Carcinoma Endometrioid	Associate	28417598
Carcinoma Hepatocellular	Inhibit	24556940
Carcinoma Hepatocellular	Associate	24556940, 28622513, 28700662, 28901494, 29427621, 34083693
Carcinoma Hepatocellular	Stimulate	29352111
Carcinoma Large Cell	Associate	35307773
Carcinoma Neuroendocrine	Associate	16998464, 34871352
Carcinoma Non Small Cell Lung	Associate	24445599, 25918285, 26671993, 30972962, 31751681, 32709715, 33144586, 33407425, 35151345, 35278076, 35468657, 35747993, 35964518, 36126963, 37184108 View all (5 more)
Carcinoma Non Small Cell Lung	Inhibit	37387441
Carcinoma Papillary	Associate	28731042
Carcinoma Renal Cell	Associate	23792563, 24817979, 28731045, 31208361, 31751681, 37387441
Carcinoma Renal Cell	Inhibit	36178285
Carcinoma Small Cell	Associate	24375037, 24658001, 24658004, 25886974, 26356327, 26546963, 26645725, 26975901, 27866340, 28608987, 29365144, 29700418, 30275002, 31190001, 31844183 View all (10 more)
Carcinoma Small Cell	Inhibit	26564006, 33331994
Carcinoma Squamous Cell	Inhibit	16998464
Cardiomyopathy Dilated	Stimulate	26344687
Cardiovascular Diseases	Associate	28515798
Celiac Disease	Associate	33362776
Cell Transformation Neoplastic	Associate	16135788
Cerebral Hemorrhage	Associate	32474671
Cerebral Infarction	Associate	24190014
Cholangiocarcinoma	Associate	33200197, 35986087
Chondroma	Associate	35151345
Clear cell metastatic renal cell carcinoma	Associate	34980496
Cleft Lip	Associate	35385219
Coffin Siris syndrome	Associate	28608987, 30459321, 30973214, 31160358, 33799280, 34180430, 34205270, 36474027
Colitis Ulcerative	Associate	28524162
Colorectal Neoplasms	Associate	21102582, 25058500, 35590122, 35900231
Complement Factor I Deficiency	Associate	27101785
Congenital Abnormalities	Associate	30973214, 36849876
Coronary Artery Disease	Associate	20810930, 24190014, 24219970, 24902015
Coronary Artery Disease	Inhibit	24219970
Coronary Disease	Associate	28055962
Cough	Associate	30572461
COVID 19	Associate	36894709
Death	Inhibit	26671993
Death	Associate	31954538, 35151345
Dermatomyositis	Associate	12905483
Developmental Disabilities	Associate	28714951, 33799280, 34205270, 36849876
Diabetes Complications	Stimulate	26344687
Diabetes Mellitus	Associate	26344687
Dissection Thoracic Aorta	Stimulate	25304030
DNA Repair Deficiency Disorders	Stimulate	31727161
Duane Retraction Syndrome	Associate	31954538
Dysplastic Nevus Syndrome	Associate	23028750
Endometrial Neoplasms	Inhibit	26743474
Endometrial Neoplasms	Associate	27101785, 28863077, 36958196, 39811899
Esophageal Neoplasms	Associate	26812616, 31406271, 37054973
Esophageal Squamous Cell Carcinoma	Associate	26812616, 31406271, 35899307
Familial cylindromatosis	Associate	16135788, 31906887
Fanconi Anemia	Associate	22408259
Fibrosis	Associate	29427621, 36976650
Ganglioneuroma	Associate	35151345
Gastroesophageal Reflux	Associate	37054973
Gastrointestinal Stromal Tumors	Associate	28212550
Glioblastoma	Associate	27579614, 33528916, 37593885, 40133216
Glioma	Associate	22362300, 23276717, 29463646
Glioma	Stimulate	37094128
Glucocorticoid Receptor Deficiency	Associate	19066270
Granulosa cell tumor of the ovary	Associate	33355532
Growth Disorders	Associate	30973214
Guillain Barre Syndrome	Associate	29792595
Heart Defects Congenital	Associate	31160358, 35385219
Heart Diseases	Associate	31160358, 35748249
Hereditary leiomyomatosis and renal cell cancer	Associate	32191807
Histiocytosis Non Langerhans Cell	Associate	37228094
Hyperkinesis	Associate	33058778
Hyperlipoproteinemia Type II	Associate	24219970
Hypersensitivity Immediate	Inhibit	26564006
Hypersensitivity Immediate	Associate	26645725, 29700418, 31190001, 36813544
Hypersensitivity Immediate	Stimulate	33532948
Hypertension	Associate	31507094
Idiopathic Noncirrhotic Portal Hypertension	Associate	29427621
Idiopathic Pulmonary Fibrosis	Associate	38252663
Immunologic Deficiency Syndromes	Inhibit	31617320
Infections	Associate	29848589
Inflammation	Inhibit	28002318
Inflammation	Associate	35479077, 40131774
Intellectual Disability	Associate	30973214, 34706719
Kidney Failure Chronic	Associate	37270804, 37553608
Leukemia	Associate	19066270, 24285714
Leukemia Lymphocytic Chronic B Cell	Inhibit	28002318
Leukemia Lymphoma Adult T Cell	Associate	31142665
Leukemia Myeloid Acute	Associate	29298978, 31178587, 34042280
Leukemia Promyelocytic Acute	Associate	26997274
Liposarcoma	Associate	26743474, 27562491
Liver Cirrhosis	Associate	29427621
Liver Failure	Associate	29427621
Liver Failure	Stimulate	29427621
Lung Diseases	Associate	40158181, 40453096
Lung Neoplasms	Associate	23033341, 23163725, 24445599, 25355421, 26139243, 28256572, 30008631, 31617320, 32709715, 32855269, 33407425, 37387441
Lymphatic Metastasis	Associate	37184108
Lymphoma	Associate	31776129, 40275321
Lymphoma B Cell Marginal Zone	Associate	34952945
Lymphoma Large B Cell Diffuse	Associate	20664054
Lymphoma Mantle Cell	Associate	24682267
Malignant Teratocarcinosarcoma	Associate	34871352, 38201285
Malignant Teratocarcinosarcoma	Inhibit	35307773
Medulloblastoma	Associate	22820256, 22832583, 26290144, 31996670, 33331994
Melanoma	Inhibit	19149898
Melanoma	Associate	19784067, 20969766, 23028750, 23349796, 25026375, 26207740, 36317703
Melanoma Cutaneous Malignant	Associate	36317703
Meningioma	Associate	31470906
Microphthalmia Isolated with Cataract 1	Associate	28608987
Microphthalmos	Associate	28608987
Microsatellite Instability	Associate	34675941
Mitochondrial Diseases	Associate	37210563
Muscle Hypotonia	Associate	34205270
Myocardial Infarction	Associate	24475106, 29615549
Myositis	Associate	12905483
Necrosis	Associate	35468657, 40275321
Neoplasm Metastasis	Associate	20969766, 35590122, 36902184, 37054973, 37084736, 37184108, 40158181
Neoplasms	Associate	11719516, 16135788, 19149898, 19448667, 20137775, 20851996, 21102582, 21520050, 22139574, 22362300, 23355908, 23533649, 24336570, 24375037, 24445599 View all (85 more)
Neoplasms	Inhibit	14673169, 17938176, 18772145, 21317927, 23163725, 24285714, 24658001, 24993775, 25157878, 25271443, 25355421, 27188282, 27486753, 28002318, 28256572, 34042280, 37047493 View all (2 more)
Neoplasms	Stimulate	34836971
Neoplasms Multiple Primary	Associate	37932047
Neuhauser syndrome	Associate	33933102
Neurilemmoma	Associate	25494491
Neuroblastoma	Associate	31018240, 33211929, 36813544, 37186134, 37932047
Neuroendocrine Tumors	Associate	38124509
Nicolaides Baraitser syndrome	Associate	31375262
Non alcoholic Fatty Liver Disease	Associate	29427621
Non Muscle Invasive Bladder Neoplasms	Associate	39817975
Nonsyndromic Deafness	Associate	37054973
Oligodendroglioma	Associate	23276717
Osteosarcoma	Associate	38225273
Ovarian Diseases	Associate	25886974, 35775118
Ovarian Neoplasms	Associate	24375037, 25886974, 28417598, 31676783, 31844183, 33230143, 37272300, 37345881
Ovarian Neoplasms	Inhibit	32149361
Pancreatic Intraductal Neoplasms	Inhibit	21940037
Pancreatic Neoplasms	Inhibit	21940037
Pancreatic Neoplasms	Associate	22233809, 34375311
Parkinson Disease	Associate	38306886
Parotid Neoplasms	Associate	25886974
Personality Disorders	Associate	34980496
Peutz Jeghers Syndrome	Associate	11445556, 15756273
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	31776129
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	28671688, 37932047
Prostatic Neoplasms	Associate	27701467, 33144576, 33323379, 33596994, 36883553
Prostatic Neoplasms	Stimulate	40193710
Prostatic Neoplasms Castration Resistant	Associate	33323379
Pulmonary Emphysema	Associate	28256572
Respiratory Tract Infections	Associate	39513266
Retinal Dystrophies	Associate	30973214
Retinoblastoma	Associate	11719516, 20851996
Rhabdoid Tumor	Associate	20137775, 25494491, 26139243, 27866340, 28084340, 28256572, 29700418, 33331994, 33481850, 34432771
Rhabdoid Tumor Predisposition Syndrome 1	Associate	20137775, 35775118
Rhabdoid Tumor Predisposition Syndrome 1	Stimulate	33532948
Rhabdoid Tumor Predisposition Syndrome 2	Associate	25494491
Rhabdomyosarcoma	Associate	17468105, 34095712, 34836971
Sarcoma	Associate	28256572, 31190001, 31617320, 31751681, 34030451, 34432771, 35151345, 35468657, 36178285, 36813544
Sarcoma Alveolar Soft Part	Associate	30572461
Sarcoma Ewing	Associate	35151345
Sarcoma Synovial	Associate	26139243
Schimke immunoosseous dysplasia	Associate	22704558, 28334870
Sinonasal undifferentiated carcinoma	Associate	28084339, 28084340, 28176137, 32337786, 34871352, 35307773
Squamous Cell Carcinoma of Head and Neck	Associate	36902184
Stomach Diseases	Associate	37054973, 40275321
Stomach Neoplasms	Associate	30177679, 33481850, 33933102, 36916408
Stroke	Associate	24190014
Tauopathies	Associate	32661233
Thoracic Neoplasms	Associate	31751681, 38124509
Thrombophilia due to Activated Protein C Resistance	Associate	32661233
Thyroid Neoplasms	Associate	30272326, 32737449
Thyroiditis	Associate	29750276
Turcot syndrome	Associate	35241494
Typical Teratoid Rhabdoid Tumor	Associate	24375037, 33331994, 36813544, 37020038, 37450044
Uniparental Disomy	Inhibit	20137775
Urinary Bladder Neoplasms	Associate	24993775
Uterine Cervical Neoplasms	Associate	10082538, 34970085, 38178127
Vascular System Injuries	Stimulate	36976650
Ventricular Outflow Obstruction Left	Associate	27760138
Ventricular Outflow Obstruction Right	Associate	35385219
Ventricular Remodeling	Associate	36976650
Virus Diseases	Associate	29848589
Wilms Tumor	Associate	25190313

SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4)