POFUT1, protein O-fucosyltransferase 1, 23509

N. diseases: 45; N. variants: 7
Disease: Dermatologic disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		0.010 GeneticVariation group BEFREE Germline heterozygous mutations in POFUT1 gene cause Dowling-Degos disease (DDD), a skin disease that features flexural reticulated hyperpigmentation and follicular-based lesions. 31566882 2019