POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994094
rs113994094
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 GeneticVariation UNIPROT Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. 19307547 2009
dbSNP: rs113994094
rs113994094
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 GeneticVariation UNIPROT Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 12825077 2003
dbSNP: rs113994094
rs113994094
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C3150914
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		A 0.800 CausalMutation CLINVAR