MDH2, malate dehydrogenase 2, 4191

N. diseases: 111; N. variants: 5
Disease: Pediatric failure to thrive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519566
rs1057519566
Entrez Id: 4191
Gene Symbol: MDH2
MDH2
CUI: C2315100
Disease:
Pediatric failure to thrive 		T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324 2017
dbSNP: rs375002796
rs375002796
Entrez Id: 4191
Gene Symbol: MDH2
MDH2
CUI: C2315100
Disease:
Pediatric failure to thrive 		T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324 2017