ND2, MTND2, 4536

N. diseases: 130; N. variants: 69
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.400 GermlineCausalMutation disease ORPHANET Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance. 15781840 2005
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.400 GermlineCausalMutation disease ORPHANET Paternal inheritance of mitochondrial DNA. 12192017 2002
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.400 CausalMutation disease CLINVAR