KRT85, keratin 85, 3891

N. diseases: 14; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia
0.020 GeneticVariation disease BEFREE Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation. 20409997 2010
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia
0.020 Biomarker disease BEFREE A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. 16525032 2006
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia
0.020 GeneticVariation disease LHGDN A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. 16525032 2006