Disease: SIFRIM-HITZ-WEISS SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.600 GeneticVariation disease UNIPROT De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. 27616479 2016
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.600 GeneticVariation disease UNIPROT Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907 2016
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.600 GeneticVariation disease CLINVAR
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.600 CausalMutation disease CLINVAR
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND