Mitochondrial dna depletion syndrome

Disease Term Disease ID Gene Symbol Classification References Source
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome C3809592 FBXL4 Causal Pathogenic evidence from ClinVar 23993193, 23993194, 25868664, 26633545, 27099744, 27182039, 27182309, 27290639, 27743463, 27858371 ClinVar
Mitochondrial DNA Depletion Syndrome 1 C4551995 POLG Causal Pathogenic evidence from ClinVar - ClinVar
TYMP Causal Pathogenic evidence from ClinVar 9924029, 10852545, 12084896, 12177387, 12529715, 14720311, 14757860, 15505189, 15742109, 15781193, 16178026, 16198108, 17294068, 17437622, 18280229, 19056268, 19344718, 19748572, 20151198, 20232099, 21933806, 23341816, 23430799, 24816252, 25655951 ClinVar
SCO2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9924029, 10852545, 12177387, 12529715, 14720311, 15781193, 16198108, 17437622, 19056268, 19748572, 21933806 -
TRNK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) C3150914 POLG Causal Pathogenic evidence from ClinVar 12825077, 17436221, 19307547, 19364868, 20176107, 25655951, 25929793, 27604308 ClinVar
EDAR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) C2749861 RRM2B Causal Pathogenic evidence from ClinVar 17486094, 18504129, 19667227, 21378381, 25655951, 25929793, 27483465, 27604308 ClinVar
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) C3150172 RRM2B Causal Pathogenic evidence from ClinVar 27483465 ClinVar
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) C3151476 SUCLG1 Causal Pathogenic evidence from ClinVar 17668387, 19526370, 20453710, 20693550, 21639866, 27484306, 27604308, 29217198 ClinVar
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) C3149750 TK2 Causal Pathogenic evidence from ClinVar 11687801, 12391347, 12493767, 15639197, 15907288, 21937588, 22345218, 25446393, 25929793, 27604308 ClinVar
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 C4310935 DGUOK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12205643, 25655951 -