CST6, cystatin E/M, 1474

N. diseases: 72; N. variants: 1
Disease: Hypotrichosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.010 GeneticVariation disease BEFREE We identified a homozygous variant c.361C>T (p.Gln121*), resulting in a premature stop codon in exon 2 of CST6 associated with hypotrichosis, eczema, blepharitis, photophobia and impaired sweating. 30425301 2019