POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Global developmental delay ×
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: C0557874
Disease:
Global developmental delay 		A 0.700 CausalMutation CLINVAR
dbSNP: rs113994096
rs113994096
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0557874
Disease:
Global developmental delay 		A 0.700 CausalMutation CLINVAR
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0557874
Disease:
Global developmental delay 		0.010 GeneticVariation BEFREE Four children, 2 related and 2 unrelated, with the novel p.P1073L mutation (all patients) and either the p.A467T (2 patients), p.G848S (1 patient), or p.W748S (1 patient) mutation presented with psychomotor delay, encephalopathy, and liver failure. 20142534 2010
dbSNP: rs113994098
rs113994098
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0557874
Disease:
Global developmental delay 		0.010 GeneticVariation BEFREE Four children, 2 related and 2 unrelated, with the novel p.P1073L mutation (all patients) and either the p.A467T (2 patients), p.G848S (1 patient), or p.W748S (1 patient) mutation presented with psychomotor delay, encephalopathy, and liver failure. 20142534 2010
dbSNP: rs267606959
rs267606959
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0557874
Disease:
Global developmental delay 		0.010 GeneticVariation BEFREE Four children, 2 related and 2 unrelated, with the novel p.P1073L mutation (all patients) and either the p.A467T (2 patients), p.G848S (1 patient), or p.W748S (1 patient) mutation presented with psychomotor delay, encephalopathy, and liver failure. 20142534 2010