Disease: Skeletal Defects, Genital Hypoplasia, And Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676231
Disease: Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Skeletal Defects, Genital Hypoplasia, And Mental Retardation 		0.700 GeneticVariation disease UNIPROT Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia. 18611983 2008
CUI: C2676231
Disease: Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Skeletal Defects, Genital Hypoplasia, And Mental Retardation 		0.700 Biomarker disease GENOMICS_ENGLAND Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia. 18611983 2008
CUI: C2676231
Disease: Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Skeletal Defects, Genital Hypoplasia, And Mental Retardation 		0.700 CausalMutation disease CLINVAR
CUI: C2676231
Disease: Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Skeletal Defects, Genital Hypoplasia, And Mental Retardation 		0.700 Biomarker disease CTD_human