rs144972972, RMND1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
0.700 CausalMutation CLINVAR The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 27412952 2016
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
0.700 CausalMutation CLINVAR