Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014343
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 		0.600 Biomarker disease GENOMICS_ENGLAND Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline. 26050939 2015
CUI: C4014343
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 		0.600 GeneticVariation disease CLINVAR PGAP1 knock-out mice show otocephaly and male infertility. 17711852 2007
CUI: C4014343
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 		0.600 CausalMutation disease CLINVAR
CUI: C4014343
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 		0.600 Biomarker disease CTD_human