Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 CausalMutation CLINVAR Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 24658002

2014
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 CausalMutation CLINVAR Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. 24658001

2014
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker CLINGEN Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. 24658001

2014
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 GeneticVariation CLINVAR Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. 24658001

2014
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker GENOMICS_ENGLAND Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 24658002

2014
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker CLINGEN Recurrent SMARCA4 mutations in small cell carcinoma of the ovary. 24658004

2014
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 GeneticVariation CLINVAR Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 24658002

2014
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker CLINGEN Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 24658002

2014
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker CLINGEN Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again. 23775540

2013
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker CLINGEN Reversible disruption of mSWI/SNF (BAF) complexes by the SS18-SSX oncogenic fusion in synovial sarcoma. 23540691

2013
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker GENOMICS_ENGLAND Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. 20137775

2010
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker CLINGEN Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. 20137775

2010
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker CLINGEN A Brg1 null mutation in the mouse reveals functional differences among mammalian SWI/SNF complexes. 11163203

2000
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker CTD_human

Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.600 GeneticVariation UNIPROT Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308

2012
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.600 CausalMutation CLINVAR

Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.600 GeneticVariation CLINVAR

Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.600 Biomarker GENOMICS_ENGLAND

Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 AlteredExpression BEFREE The regulation of ATM/ATR is rendered non-functional in Schimke Immuno-Osseous Dysplasia where SMARCAL1 is mutated and in Coffin-Siris Syndrome where BRG1 is mutated. 30317028

2018
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 GeneticVariation BEFREE Coffin-Siris syndrome (CSS; MIM 135900) is a multisystem congenital anomaly syndrome caused by mutations in the genes in the Brg-1 associated factors (BAF) complex. 30276971

2018
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 GeneticVariation BEFREE This study suggests that SMARCA4 constitutional mutations associated with CSS are not necessarily non-truncating, and that haploinsufficiency may explain milder CSS phenotypes, as previously reported for haploinsufficient ARID1B. 28608987

2017
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 GeneticVariation BEFREE Furthermore, mutations in the same positions were reported in malignant tumors, and a de novo missense substitution in an equivalent arginine residue in the C-terminal helicase domain of SMARCA4 is associated with Coffin Siris syndrome. 27616479

2016
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 AlteredExpression BEFREE The importance of BRG1/RNA and BRG1/homeodomain interactions in neurodevelopmental disorders is underscored by the finding that mutations in Coffin-Siris syndrome, a human intellectual disability disorder, localize to the BRG1 RNA-binding and DLX1-binding domains. 26138476

2015
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 Biomarker BEFREE In summary, SMARCA4-associated CSS is a pleiotropic disorder in which the pathognomic clinical features evolve and for which the few reported individuals do not demonstrate a clear genotype-phenotype correlation. 24700502

2014
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 GeneticVariation BEFREE SMARCA4 mutations caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. 23637025

2013