Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 GeneticVariation group BEFREE Novel truncating PPM1D mutation in a patient with intellectual disability. 29758292 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 GeneticVariation group BEFREE Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon. 30795918 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 GeneticVariation group BEFREE We identified 14 individuals with mild to severe ID and/or developmental delay and de novo truncating PPM1D mutations. 28343630 2017