PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Disease: Hypopigmentation disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.010 GeneticVariation disease BEFREE We carried out mutation analysis of RAB27A, LYST, and AP3B1 in patients with FHL with pigment dilution, as well as a cohort with no clinical evidence of pigment dilution but no mutations in the other known FHL-related genes (PRF1, STXBP2, and UNC13D). 25312756 2015