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 |
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 |
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 |
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 |
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 |
Rhabdoid Tumor Predisposition Syndrome 2
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Recurrent SMARCA4 mutations in small cell carcinoma of the ovary.
|
24658004 |
2014 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Rhabdoid Tumor Predisposition Syndrome 2
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
COFFIN-SIRIS SYNDROME 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
|
22426308 |
2012 |
COFFIN-SIRIS SYNDROME 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
COFFIN-SIRIS SYNDROME 4
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
COFFIN-SIRIS SYNDROME 4
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
Coffin-Siris syndrome
|
0.570 |
GeneticVariation
|
disease |
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 |
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 |
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 |
Coffin-Siris syndrome
|
0.570 |
AlteredExpression
|
disease |
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 |
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 |
Coffin-Siris syndrome
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
SMARCA4 mutations caused CSS without typical facial coarseness and with significant digital/nail hypoplasia.
|
23637025 |
2013 |