Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. 20137775 2010
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 CausalMutation disease CLINVAR Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 24658002 2014
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker disease CLINGEN Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again. 23775540 2013
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker disease CLINGEN Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. 20137775 2010
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 CausalMutation disease CLINVAR Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. 24658001 2014
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker disease CLINGEN A Brg1 null mutation in the mouse reveals functional differences among mammalian SWI/SNF complexes. 11163203 2000
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker disease CLINGEN Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. 24658001 2014
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker disease CTD_human
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 GeneticVariation disease CLINVAR Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. 24658001 2014
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 24658002 2014
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker disease CLINGEN Reversible disruption of mSWI/SNF (BAF) complexes by the SS18-SSX oncogenic fusion in synovial sarcoma. 23540691 2013
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker disease CLINGEN Recurrent SMARCA4 mutations in small cell carcinoma of the ovary. 24658004 2014
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 GeneticVariation disease CLINVAR Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 24658002 2014
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		0.700 Biomarker disease CLINGEN Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 24658002 2014
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.600 CausalMutation disease CLINVAR
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.600 GeneticVariation disease CLINVAR
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.600 GeneticVariation disease UNIPROT Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 GeneticVariation disease BEFREE SMARCA4 mutations caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. 23637025 2013
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 GeneticVariation disease 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
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 GeneticVariation disease 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
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 Biomarker disease CTD_human Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 Biomarker disease GENOMICS_ENGLAND
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 Biomarker disease 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
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.570 AlteredExpression disease 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