SFXN1, sideroflexin 1, 94081

N. diseases: 73; N. variants: 1
Disease: Hypertrichosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.010 GeneticVariation disease BEFREE By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis. 15126570 2004