POGLUT1, protein O-glucosyltransferase 1, 56983

N. diseases: 36; N. variants: 8
Disease: DOWLING-DEGOS DISEASE 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777293
rs587777293
Entrez Id: 56983
Gene Symbol: POGLUT1
POGLUT1
CUI: C3810313
Disease:
DOWLING-DEGOS DISEASE 4 		A 0.700 CausalMutation CLINVAR