Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.600 GeneticVariation disease CLINVAR Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. 26364901 2015
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.600 CausalMutation disease CLINVAR Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. 25168959 2014
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.600 GeneticVariation disease CLINVAR A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836 2013
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.600 GeneticVariation disease UNIPROT A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836 2013
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.600 GeneticVariation disease UNIPROT Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.600 GeneticVariation disease UNIPROT Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 22726846 2012
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.600 Biomarker disease GENOMICS_ENGLAND