AMPD2, adenosine monophosphate deaminase 2, 271

N. diseases: 60; N. variants: 10
Disease: Congenital pontocerebellar hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		0.320 GeneticVariation disease BEFREE We identified homozygous or compound heterozygous AMPD2 variants in eight PCH-affected individuals from six families. 29463858 2018
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		0.320 Biomarker disease BEFREE These data suggest AMPD2-related PCH as a potentially treatable early-onset neurodegenerative disease. 23911318 2013
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		0.320 Biomarker disease GENOMICS_ENGLAND These data suggest AMPD2-related PCH as a potentially treatable early-onset neurodegenerative disease. 23911318 2013