Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.700 GeneticVariation CLINVAR Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations. 20176107

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.700 GeneticVariation CLINVAR R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. 19364868

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.700 GeneticVariation CLINVAR Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment. 17436221

2007
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.700 CausalMutation CLINVAR

Entrez Id: 10913
Gene Symbol: EDAR
EDAR
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.100 CausalMutation CLINVAR

Entrez Id: 10913
Gene Symbol: EDAR
EDAR
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.100 GeneticVariation CLINVAR