POFUT1, protein O-fucosyltransferase 1, 23509

N. diseases: 45; N. variants: 7
Disease: Dermatitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011603
Disease: Dermatitis
Dermatitis 		0.010 GeneticVariation disease BEFREE We show that a recessive loss of function mutation in POFUT1 produces a distinct clinical presentation with features (e.g., dermatitis) that are absent in the generalized form of DDD. 31566882 2019