Annotation Detail

Information
Associated Genes
POLG
Associated Variants
POLG p.Tyr955Cys (p.Y955C) ( ENST00000636937.2, ENST00000268124.11, ENST00000442287.6 )
POLG p.Tyr955Cys (p.Y955C) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
Associated Disease
Mitochondrial Diseases
Source Database
DisGeNET
Description
A POLG Y955C point mutation causes human chronic progressive external ophthalmoplegia (CPEO), a mitochondrial disease with eye muscle weakness and mtDNA defects.
Pubmed
17310215
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.255763491623986
Year of publication
2007
Drugs