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	6598
Gene name	SWI/SNF related BAF chromatin remodeling complex subunit B1
Gene symbol	SMARCB1
Synonyms (NCBI Gene)	BAF47CSS3INI-1INI1MRD15PPP1R144RDTRTPS1SNF5SNF5L1SWNTS1Sfh1pSnr1hSNFS
Chromosome	22
Chromosome location	22q11.23\|22q11
Summary	The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining ac

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SNP ID	Visualize variation	Clinical significance	Consequence
rs74315513	C>T	Pathogenic	Stop gained, coding sequence variant
rs112038099	G>A,C	Pathogenic	Splice donor variant
rs121434496	C>T	Pathogenic	Coding sequence variant, stop gained
rs138184483	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs149451748	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs267607072	A>T	Pathogenic	Coding sequence variant, missense variant
rs387906811	C>T	Pathogenic	Missense variant, coding sequence variant
rs398122368	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587776677	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776678	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776679	ATGGTAAAAAAACA>TACC	Pathogenic	Intron variant, frameshift variant, splice donor variant, coding sequence variant
rs727504162	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs779769475	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs797045989	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs875989800	AGA>-	Likely-pathogenic, pathogenic	Inframe deletion, coding sequence variant
rs886039520	C>T	Pathogenic	Missense variant, coding sequence variant
rs1060503015	C>T	Pathogenic	Coding sequence variant, stop gained
rs1060503016	G>A	Pathogenic	Coding sequence variant, stop gained
rs1060503017	GAAGACCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555875308	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555875892	->GATA	Pathogenic	Coding sequence variant, stop gained
rs1555875915	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555875917	A>T	Pathogenic	Coding sequence variant, stop gained
rs1555876140	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs1555877276	G>C	Pathogenic	Splice acceptor variant
rs1555877286	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555877287	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555881567	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555881586	G>A	Pathogenic	Splice donor variant
rs1568937087	A>G	Likely-pathogenic	Splice acceptor variant
rs1568937197	G>A,C	Pathogenic, not-provided	Splice donor variant
rs1601433318	G>-	Pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT004861	hsa-miR-192-5p	Luciferase reporter assayqRT-PCR	19074876
MIRT023864	hsa-miR-1-3p	Proteomics	18668040
MIRT024448	hsa-miR-215-5p	Microarray	19074876
MIRT004861	hsa-miR-192-5p	Reporter assay;Microarray;Other	19074876
MIRT051937	hsa-let-7b-5p	CLASH	23622248
MIRT438222	hsa-miR-206	ImmunohistochemistryqRT-PCR	24327545
MIRT438221	hsa-miR-381-3p	ImmunohistochemistryqRT-PCR	24327545
MIRT438220	hsa-miR-671-5p	ImmunohistochemistryqRT-PCR	24327545
MIRT438222	hsa-miR-206	ImmunohistochemistryqRT-PCR	24327545
MIRT438221	hsa-miR-381-3p	ImmunohistochemistryqRT-PCR	24327545
MIRT438220	hsa-miR-671-5p	ImmunohistochemistryqRT-PCR	24327545
MIRT439585	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439585	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT739150	hsa-miR-1281	HITS-CLIP	33718276
MIRT739157	hsa-miR-762	HITS-CLIP	33718276
MIRT739158	hsa-miR-378g	HITS-CLIP	33718276
MIRT1371671	hsa-miR-1254	CLIP-seq
MIRT1371672	hsa-miR-1284	CLIP-seq
MIRT1371673	hsa-miR-129-3p	CLIP-seq
MIRT1371674	hsa-miR-300	CLIP-seq
MIRT1371675	hsa-miR-3116	CLIP-seq
MIRT1371676	hsa-miR-3173-5p	CLIP-seq
MIRT1371677	hsa-miR-337-3p	CLIP-seq
MIRT1371678	hsa-miR-381	CLIP-seq
MIRT1371679	hsa-miR-3943	CLIP-seq
MIRT1371680	hsa-miR-4283	CLIP-seq
MIRT1371681	hsa-miR-4286	CLIP-seq
MIRT1371682	hsa-miR-4489	CLIP-seq
MIRT1371683	hsa-miR-4661-5p	CLIP-seq
MIRT1371684	hsa-miR-4666-3p	CLIP-seq
MIRT1371685	hsa-miR-4687-5p	CLIP-seq
MIRT1371686	hsa-miR-619	CLIP-seq
MIRT1371687	hsa-miR-661	CLIP-seq
MIRT2110268	hsa-miR-1202	CLIP-seq
MIRT2110269	hsa-miR-3202	CLIP-seq
MIRT2110270	hsa-miR-3972	CLIP-seq
MIRT2110271	hsa-miR-4426	CLIP-seq
MIRT2110272	hsa-miR-4534	CLIP-seq
MIRT2110273	hsa-miR-4647	CLIP-seq
MIRT2110274	hsa-miR-4662b	CLIP-seq
MIRT2110275	hsa-miR-4747-5p	CLIP-seq
MIRT2110276	hsa-miR-4802-5p	CLIP-seq
MIRT2110277	hsa-miR-502-5p	CLIP-seq
MIRT1371686	hsa-miR-619	CLIP-seq

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Transcription factor	Regulation	Reference
PARP1	Unknown	17616514

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000228	Component	Nuclear chromosome	IEA
GO:0000776	Component	Kinetochore	NAS	11078522
GO:0000785	Component	Chromatin	HDA	16217013
GO:0000785	Component	Chromatin	NAS	12192000
GO:0001164	Function	RNA polymerase I core promoter sequence-specific DNA binding	IMP	22368283
GO:0001188	Process	RNA polymerase I preinitiation complex assembly	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0001741	Component	XY body	IEA
GO:0001824	Process	Blastocyst development	IEA
GO:0001835	Process	Blastocyst hatching	IEA
GO:0002039	Function	P53 binding	IPI	11950834
GO:0003677	Function	DNA binding	IDA	26073604
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	11950834
GO:0003713	Function	Transcription coactivator activity	IMP	16687403
GO:0005515	Function	Protein binding	IPI	10078207, 10365963, 12368262, 14963118, 15985610, 16601680, 16687403, 20111005, 21900206, 22368283, 23540691, 24874740, 24981860, 27229929, 28514442, 30108113, 31759698, 32296183, 32814053, 33961781, 34591612, 35271311, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11430827, 22368283
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS	7801128
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	IBA
GO:0006338	Process	Chromatin remodeling	IDA	11726552
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	IMP	22368283
GO:0006338	Process	Chromatin remodeling	NAS	10078207
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	8804307, 11263494, 17340523, 17920018, 18809673
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	7801128
GO:0007399	Process	Nervous system development	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0015074	Process	DNA integration	TAS	7801128
GO:0016363	Component	Nuclear matrix	NAS	9128241
GO:0016514	Component	SWI/SNF complex	IDA	8804307, 8895581, 11078522, 11950834
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016514	Component	SWI/SNF complex	NAS	8804307
GO:0016586	Component	RSC-type complex	NAS	8804307
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	23698369, 25066234
GO:0030957	Function	Tat protein binding	IPI	16687403
GO:0031492	Function	Nucleosomal DNA binding	HDA	16217013
GO:0032991	Component	Protein-containing complex	HDA	16217013
GO:0035060	Component	Brahma complex	IBA
GO:0035060	Component	Brahma complex	NAS	8804307
GO:0039692	Process	Single stranded viral RNA replication via double stranded DNA intermediate	IDA	14963118
GO:0042802	Function	Identical protein binding	IPI	27229929, 30108113
GO:0043073	Component	Germ cell nucleus	IEA
GO:0043923	Process	Host-mediated activation of viral transcription	IMP	16687403
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
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	IMP	22368283
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11950834
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0070365	Process	Hepatocyte differentiation	IEA
GO:0071564	Component	NpBAF complex	IBA
GO:0071564	Component	NpBAF complex	IEA
GO:0071564	Component	NpBAF complex	ISS
GO:0071564	Component	NpBAF complex	NAS	8804307
GO:0071565	Component	NBAF complex	IBA
GO:0071565	Component	NBAF complex	IEA
GO:0071565	Component	NBAF complex	ISS
GO:0071565	Component	NBAF complex	NAS	17920018
GO:0140092	Component	BBAF complex	NAS	12368262
GO:1901838	Process	Positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IGI	22368283
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
GO:1902661	Process	Positive regulation of glucose mediated signaling pathway	IDA	22368283
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
601607	11103	ENSG00000099956

Q12824

Protein name

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (BRG1-associated factor 47) (BAF47) (Integrase interactor 1 protein) (SNF5 homolog) (hSNF5)

Protein function

Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is

PDB

5AJ1 , 5GJK , 5L7A , 5L7B , 6AX5 , 6KAG , 6KZ7 , 6LTH , 6LTJ , 6LZP , 6UCH , 7VDV , 7Y8R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04855	SNF5	179 → 256	SNF5 / SMARCB1 / INI1	Family
PF04855	SNF5	249 → 373	SNF5 / SMARCB1 / INI1	Family

Sequence

MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEER
KKIVASSHGKKTKPNTKDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYL
REQKAKRNSQWVPTLPNSSHHLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENA
SQPEVLVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEILCDDLDLNPLTFVPAIASA
IRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFEWDMSEKENSPEKFALKLCSE
LGLGGEFVTTIAYSIRGQLSWHQKTYAFSENPLPTVEIAIRNTGDADQWCPLLETLTDAE
MEKKIRDQDRNTRRMRRLANTAPAW

Sequence length

385

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling Viral life cycle - HIV-1 Thermogenesis Hepatocellular carcinoma		RMTs methylate histone arginines RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

768

Show/Hide Causal Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atypical teratoid rhabdoid tumor	Pathogenic	rs2146045204, rs1060503015, rs1555877286	RCV006254315 RCV006254061 RCV006254124
Coffin-Siris syndrome	Likely pathogenic; Pathogenic	rs2146026614, rs878854600, rs1057517825, rs398122368, rs2030331202	RCV001806729 RCV005365185 RCV004798828 RCV004556052 RCV001269267
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs1057517825	RCV005900669
Embryonal rhabdomyosarcoma	Likely pathogenic; Pathogenic	rs1057517825	RCV006253943
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2517652605, rs2030331202, rs112038099, rs74315513, rs878854600, rs2517724673, rs1057517825, rs875989800, rs779769475, rs1555875915, rs763994045, rs1928400256, rs2145978723	RCV002327850 RCV002387336 RCV004018590 RCV003278655 RCV003298297 RCV004508446 RCV004022158 RCV002444438 RCV002402285 RCV000561914 RCV005732250 RCV003163641 RCV002339715
Intellectual disability, autosomal dominant 15	Likely pathogenic; Pathogenic	rs2146042583, rs2030318562, rs886039520, rs797045989, rs1057517825, rs875989800, rs1555877287, rs398122368	RCV001594445 RCV001330808 RCV001843755 RCV000194966 RCV001782753 RCV000850606 RCV000023121 RCV000505224 RCV000074462
Malignant rhabdoid tumor, somatic	Pathogenic	rs587776677	RCV000008486
Meningioma	Likely pathogenic; Pathogenic	rs1057517825	RCV005647999
Neoplasm	Likely pathogenic; Pathogenic	rs2146042724, rs1057517825, rs875989800	RCV004674022 RCV006273717 RCV006273066
NK-cell enteropathy	Likely pathogenic	rs1601446826	RCV000791312
Peripheral schwannoma	Likely pathogenic; Pathogenic	rs878854600	RCV000626834
Rhabdoid tumor predisposition syndrome 1	Pathogenic; Likely pathogenic	rs2030790572, rs2146045204, rs2517684307, rs587776678, rs112038099, rs2146042724, rs875989800, rs1060503015, rs1555875917, rs1601433318, rs2145978723	RCV001335091 RCV005055181 RCV002466913 RCV000008488 RCV000008489 RCV004573666 RCV002504820 RCV005600935 RCV000532865 RCV000857232 RCV001523823
Schwannoma	Likely pathogenic; Pathogenic	rs878854600	RCV000626834
Schwannomatosis	Pathogenic	rs1929106223, rs2145980559, rs2145980562	RCV002243179 RCV001824473 RCV001824474
Schwannomatosis 1, somatic	Pathogenic	rs121434496	RCV000008491
SMARCB1-related BAFopathy	Likely pathogenic; Pathogenic	rs2030318562, rs1057517825, rs398122368	RCV001533134 RCV001533136 RCV001533133
SMARCB1-related disorder	Pathogenic; Likely pathogenic	rs2030790572, rs2146026614, rs779769475	RCV005863419 RCV003335855 RCV004740242
SMARCB1-related schwannomatosis	Pathogenic; Likely pathogenic	rs2145964108, rs2146010204, rs74315513, rs587776679, rs2517664783, rs878854600, rs2146042856, rs2517652434, rs875989800, rs779769475	RCV002246731 RCV002246732 RCV000008490 RCV000008492 RCV000008493 RCV000656363 RCV003228217 RCV003448545 RCV002504820 RCV000785603
Teratoid tumor, atypical	Pathogenic	rs1555876140	RCV000853299
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs1057517825	RCV005900670

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adenoid cystic carcinoma	-	rs398122368	RCV004813296
Autism spectrum disorder	Likely benign; Conflicting classifications of pathogenicity	rs1568943183, rs1601405064	RCV003127452 RCV003127587
Cervical cancer	Likely benign	rs143872602	RCV005916445
Developmental disorder	Conflicting classifications of pathogenicity; Uncertain significance	rs2517660810, rs398122368	RCV003127295 RCV003764453
Familial cancer of breast	Likely benign	rs143872602	RCV005916444
Intellectual disability	Conflicting classifications of pathogenicity	rs1555875308	RCV001260856
Malignant tumor of urinary bladder	Uncertain significance	rs1555880607	RCV005931887
Neurodevelopmental disorder	Uncertain significance	rs2146027176	RCV002277691
Ovarian cancer	Conflicting classifications of pathogenicity	rs780906523	RCV003153925
Ovarian serous cystadenocarcinoma	Likely benign; -; Uncertain significance	rs143872602, rs1601402001, rs1022324232	RCV005916447 RCV005901914 RCV005913869
Rhabdoid tumor predisposition syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign	rs752910574, rs779825754, rs886057282, rs397897183	RCV000365158 RCV000280146 RCV000407097 RCV000402538
Rhabdoid tumor predisposition syndrome 2	Uncertain significance; Conflicting classifications of pathogenicity	rs765514964, rs762962010	RCV002292220 RCV001789772
Sarcoma	Likely benign	rs143872602	RCV005916446
See cases	Uncertain significance	rs2145978507	RCV002252643

Show/Hide Text Mining Associations (175)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
22q11 Deletion Syndrome	Associate	21613800
Acute Retroviral Syndrome	Associate	15589835
Adenocarcinoma	Associate	23161234, 25007146, 31468350, 31906887, 35307773, 38085333, 40101550
Adenoma	Associate	23425390
Alcoholism	Associate	28981154
Anemia	Associate	29907796
Anemia Sickle Cell	Inhibit	30980040
Antisocial Personality Disorder	Associate	28981154
Astrocytoma	Associate	28181325
Brain Neoplasms	Associate	26109171
Brain Neoplasms	Inhibit	31462227
Breast Neoplasms	Stimulate	28302160
Breast Neoplasms	Associate	37202799
Calcinosis	Associate	36975468
Calcinosis Cutis	Associate	30297384
Carcinogenesis	Associate	11782423, 25018128, 25973116, 30683081, 32129445, 32839151, 32912900, 35864317, 38040699
Carcinoma	Inhibit	18997735
Carcinoma	Associate	28084340, 33481850, 37974295
Carcinoma Basal Cell	Associate	22260386
Carcinoma Endometrioid	Associate	26743474
Carcinoma Hepatocellular	Associate	24556940
Carcinoma Hepatocellular	Inhibit	27111394
Carcinoma in Situ	Inhibit	24832165
Carcinoma Medullary	Inhibit	18327209, 28427232, 30980040
Carcinoma Medullary	Associate	23348212, 28558987, 29309300, 33664427, 37228094, 37236926
Carcinoma Non Small Cell Lung	Associate	35506290
Carcinoma Renal Cell	Associate	22260386, 24817979, 27733182, 32818509, 33664427, 36975468
Carcinoma Squamous Cell	Associate	25007146, 31468350
Carcinoma Squamous Cell	Inhibit	28291122, 29625594
Cardiomyopathies	Associate	37526028
Cardiomyopathy Dilated	Associate	37526028
Cardiomyopathy Hypertrophic	Associate	37526028
Cell Transformation Neoplastic	Associate	36657718
Central Nervous System Infections	Associate	29428974
Central Nervous System Neoplasms	Associate	10521299, 26073604, 29428974
Central Nervous System Neoplasms	Inhibit	31033435
Cholangiocarcinoma	Associate	24867389, 29551704
Chondrosarcoma	Associate	38236556
Chondrosarcoma Extraskeletal Myxoid	Associate	29924341
Chordoma	Associate	24305715, 24983247, 28427232, 32122923, 32920865, 33536423, 33608696, 35804041, 36657718, 37966258
Chordoma	Inhibit	29119645, 34392582, 36088476
Chromosome Aberrations	Inhibit	30595504
Coffin Siris syndrome	Associate	29907796, 30459321, 31759698, 34180430
Colonic Neoplasms	Associate	32083567
Colorectal Neoplasms	Associate	23425390, 24286138, 29307989, 30108113
Complement Factor I Deficiency	Associate	27101785
COVID 19	Inhibit	33017834
Desmoplastic Small Round Cell Tumor	Associate	25755805
Developmental Disabilities	Associate	28945250
Endodermal Sinus Tumor	Associate	31468350, 38085333
Endometrial Neoplasms	Stimulate	26743474
Endometrial Neoplasms	Associate	27101785, 28863077, 30683081
Epilepsies Partial	Associate	38085333
Euthyroid Sick Syndromes	Associate	25007146
Familial cylindromatosis	Associate	31906887
Fibrosis	Associate	37526028
Ganglioglioma	Associate	16443951
Gastro enteropancreatic neuroendocrine tumor	Associate	26684240
Gastrointestinal Neoplasms	Associate	32083567
Gastrointestinal Stromal Tumors	Associate	21613800, 31758409
Genetic Diseases Inborn	Associate	10739763, 18997735, 32281771
Glioblastoma	Associate	24127995, 24354918, 32296843
Glioma	Inhibit	32420340
Glioma	Associate	35044082
Glucocorticoid Receptor Deficiency	Associate	19066270
Goiter Substernal	Associate	35864317
Head and Neck Neoplasms	Associate	27632188, 32839151, 37974295
Heart Defects Congenital	Associate	29907796
Hemangioendothelioma	Associate	38391317
Hemangioendothelioma Epithelioid	Associate	28084340
Hemangiosarcoma	Associate	28084340
Hematuria	Associate	25018128
Hemoglobinopathies	Associate	29309300
HIV Infections	Associate	27045049
Hydrocephalus	Associate	29907796
Immunologic Deficiency Syndromes	Associate	30297384
Inflammation	Associate	35580293
Inflammation	Inhibit	39313797
Infratentorial Neoplasms	Associate	10739763
Intellectual Disability	Associate	29907796, 31759698, 34706719
Kidney Diseases	Associate	27733182
Kidney Failure Chronic	Associate	27733182
Kidney Neoplasms	Associate	32885893
Klinefelter Syndrome	Associate	23510391
Leukemia	Associate	10490642
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	19091943
Leukemia Myeloid Acute	Associate	27460089, 29483235
Liposarcoma	Associate	26743474, 27562491
Lung Diseases	Associate	26285240
Lung Neoplasms	Associate	28842574, 39313797
Lung Neoplasms	Stimulate	35506290
Lymphatic Metastasis	Associate	38085333
Lymphoma	Associate	18327209
Lymphoma Mantle Cell	Associate	32584970
Malignant mesenchymal tumor	Associate	30297384, 36088476
Malignant Teratocarcinosarcoma	Associate	28176137, 32337786
MASS syndrome	Associate	24807916, 33017834, 36720509
Medulloblastoma	Associate	10521299, 33331994
Melanoma	Associate	23161234, 29045843, 32244797
Meningioma	Associate	11161377, 14514925, 15761491, 18087273, 18236049, 28195122, 28759666, 31470906, 35049691
Meningioma	Inhibit	31857543
Microsatellite Instability	Associate	30108113
Mucopolysaccharidoses Unclassified Types	Inhibit	27338635
Myoepithelioma	Associate	18087273, 24585572, 25007146, 36088476
Myoepithelioma	Inhibit	36577525
Nasopharyngeal Carcinoma	Associate	28581676
Necrosis	Inhibit	37077082
Neoplasm Metastasis	Inhibit	24286138
Neoplasm Metastasis	Associate	25007146, 31438887, 36656230, 37131253, 37232011, 38085333
Neoplasms	Associate	10521299, 10739763, 11161377, 15769941, 16443951, 16687525, 17376508, 18087273, 18236049, 18332116, 18422762, 18997735, 19091943, 19124645, 20137775 View all (80 more)
Neoplasms	Inhibit	11782423, 12138206, 14604992, 15761491, 16945155, 17357086, 18641990, 19216214, 19276269, 20003390, 21255467, 21613800, 22180295, 22949514, 23364536 View all (41 more)
Neoplasms Cystic Mucinous and Serous	Associate	33608696
Neoplasms Germ Cell and Embryonal	Associate	26109171
Neoplasms Glandular and Epithelial	Associate	29135520
Neoplasms Neuroepithelial	Associate	27380723, 39228008
Neoplastic Syndromes Hereditary	Associate	10521299, 35446994
Nerve Sheath Neoplasms	Associate	29512865
Nerve Sheath Neoplasms	Inhibit	36088476
Neurilemmoma	Inhibit	17357086
Neurilemmoma	Associate	18422762, 19124645, 21108436, 21255467, 22949514, 25494491, 25739810, 28759666, 29384852, 33025139, 35361920, 35446994, 35732500
Neurilemmoma	Stimulate	30864974
Neuroectodermal Tumors	Associate	10521299
Neuroectodermal Tumors	Inhibit	22672440
Neuroectodermal Tumors Primitive	Associate	19725831, 20348883, 22672440, 23161234
Neurofibrosarcoma	Associate	23161234, 28084340, 30864974, 33608696, 35361920
Nicolaides Baraitser syndrome	Associate	23906836
Nonsyndromic Deafness	Associate	25007146
Nose Diseases	Inhibit	36656230
Obesity	Associate	24058506
Osteosarcoma	Associate	34984436, 35583077
Pain	Associate	29384852, 35361920
Pancreatic Neoplasms	Associate	25103069, 34375311
Papilloma Choroid Plexus	Associate	10521299, 29907796
Parkinson Disease	Associate	32868381
Paroxysmal nonkinesigenic dyskinesia	Inhibit	29119645
Peripheral Nervous System Neoplasms	Associate	35361920
Personality Disorders	Associate	25007146
Personality Disorders	Inhibit	27941797
Primary granulocytic sarcoma	Associate	29363919
Prostate Cancer Hereditary 8	Associate	26073604
Prostatic Neoplasms	Associate	33522043
Renal cell carcinoma 1	Inhibit	30297384
Retroperitoneal Neoplasms	Inhibit	34974552
Rhabdoid Tumor	Associate	10521299, 10607907, 10739763, 11161377, 11782423, 12138206, 14514925, 15761491, 15769941, 16687525, 18997735, 19276269, 21108436, 21208904, 21319312 View all (44 more)
Rhabdoid Tumor	Inhibit	14604992, 16528370, 16945155, 17376508, 18327209, 18332116, 20003390, 20137775, 20212451, 22797305, 23382118, 25018128, 27338635, 27632188, 28427232 View all (7 more)
Rhabdoid Tumor Predisposition Syndrome 1	Associate	10521299, 15779233, 16687525, 18087273, 20137775, 20925002, 21208904, 23510391, 25494491, 26998479, 28722703, 29512865, 29907796, 31912158, 38236556
Rhabdoid Tumor Predisposition Syndrome 1	Stimulate	33532948
Rhabdomyosarcoma	Associate	23161234
Rhabdomyosarcoma	Inhibit	32087612
Rhabdomyosarcoma Embryonal	Associate	39334946
Sarcoma	Inhibit	18327209, 18997735, 23161234, 32264965, 34974552, 35804041, 39491746
Sarcoma	Associate	20003390, 21357725, 23060122, 23174932, 23774169, 24585572, 26965049, 27045049, 28084340, 28945250, 30111166, 32461620, 33608696, 35537449, 35839307, 36088476, 37228094 View all (2 more)
Sarcoma Clear Cell	Associate	23161234
Sarcoma Ewing	Associate	22868000, 23161234
Sarcoma Synovial	Inhibit	20305614, 23161234
Sarcoma Synovial	Associate	24131748, 26045850, 30397315
Schwannomatosis	Associate	17357086, 18422762, 19124645, 20003390, 21108436, 21255467, 22949514, 24362817, 24443315, 26073604, 29384852, 29907796, 30092803, 31424590, 32281771 View all (5 more)
Sinonasal undifferentiated carcinoma	Associate	24832165, 28176137, 28291122, 29797680, 31438887, 31468350, 32337786, 33017834, 35307773, 36443295, 37077082
Sinonasal undifferentiated carcinoma	Inhibit	25007146, 32818509, 36656230
Soft Tissue Neoplasms	Associate	28084340, 33608696, 36720509, 39412932
Soft Tissue Neoplasms	Inhibit	36656230
Solitary Fibrous Tumor Pleural	Associate	29625594
Stomach Diseases	Associate	40275321
Stomach Neoplasms	Associate	23196062, 33481850
Teratoid Tumor Atypical	Inhibit	31708418
Thymoma	Associate	27844328
Thyroid cancer follicular	Associate	31248021
Tuberculosis Extrapulmonary	Associate	26977886
Typical Teratoid Rhabdoid Tumor	Associate	12138206, 16443951, 16687525, 18236049, 20848638, 20925002, 21261775, 22180295, 22672440, 23161096, 23510391, 23921806, 24284868, 24375037, 25688119 View all (20 more)
Typical Teratoid Rhabdoid Tumor	Inhibit	15761491, 15779233, 19216214, 27228363, 27338635, 27380723, 29625594, 30595504, 31462227, 32129445, 32602741, 34599019, 35501487
Urinary Bladder Diseases	Associate	25018128
Urinary Bladder Neoplasms	Inhibit	32073734
Urologic Diseases	Associate	25007146
Ventricular Dysfunction Left	Associate	36720509
Vulvar Neoplasms	Associate	26261664

SMARCB1 (SWI/SNF related BAF chromatin remodeling complex subunit B1)