CERT1, ceramide transporter 1, 10087

N. diseases: 71; N. variants: 19
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225156
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 		0.600 GeneticVariation disease UNIPROT Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
CUI: C4225156
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 		0.600 GeneticVariation disease UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
CUI: C4225156
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 		0.600 CausalMutation disease CLINVAR
CUI: C4225156
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 		0.600 Biomarker disease CTD_human