KRT25, keratin 25, 147183

N. diseases: 25; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343073
Disease: Wooly hair
Wooly hair
0.400 GermlineCausalMutation phenotype ORPHANET A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 26160856 2015
CUI: C0343073
Disease: Wooly hair
Wooly hair
0.400 Biomarker phenotype HPO