MDH2, malate dehydrogenase 2, 4191

N. diseases: 111; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs537742207
rs537742207
Entrez Id: 4191
Gene Symbol: MDH2
MDH2
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		0.010 GeneticVariation BEFREE An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia. 31444388 2019