AMPD2, adenosine monophosphate deaminase 2, 271

N. diseases: 60; N. variants: 10
Disease: Spastic Paraplegia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 GeneticVariation disease BEFREE 1.NAME OF DISEASE (SYNONYMS): Pontocerebellar hypoplasia type 9 (PCH9) and spastic paraplegia-63 (SPG63).2. 30089829 2019
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 Biomarker disease BEFREE PCH9 is caused by biallelic variants in AMPD2 encoding adenosine monophosphate deaminase 2; however, a homozygous AMPD2 frameshift variant has recently been reported in two family members with spastic paraplegia type 63 (SPG63). 29463858 2018
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 Biomarker disease HPO