POFUT1, protein O-fucosyltransferase 1, 23509

N. diseases: 45; N. variants: 7
Disease: DOWLING-DEGOS DISEASE 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809147
Disease: DOWLING-DEGOS DISEASE 2
DOWLING-DEGOS DISEASE 2 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. 23684010 2013
CUI: C3809147
Disease: DOWLING-DEGOS DISEASE 2
DOWLING-DEGOS DISEASE 2 		0.400 CausalMutation disease CLINVAR