GUF1, GUF1 homolog, GTPase, 60558

N. diseases: 13; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255631
rs879255631
Entrez Id: 60558;132789
Gene Symbol: GUF1;GNPDA2
GUF1;GNPDA2
CUI: C4310737
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40
0.700 GeneticVariation UNIPROT West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. 26486472 2016