KRT85, keratin 85, 3891

N. diseases: 14; N. variants: 2
Disease: Ectodermal Dysplasia, Pure Hair-Nail Type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865951
Disease: Ectodermal Dysplasia, Pure Hair-Nail Type
Ectodermal Dysplasia, Pure Hair-Nail Type 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia. 19865094 2010
CUI: C1865951
Disease: Ectodermal Dysplasia, Pure Hair-Nail Type
Ectodermal Dysplasia, Pure Hair-Nail Type 		0.700 GeneticVariation disease UNIPROT A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. 16525032 2006
CUI: C1865951
Disease: Ectodermal Dysplasia, Pure Hair-Nail Type
Ectodermal Dysplasia, Pure Hair-Nail Type 		0.700 GermlineCausalMutation disease ORPHANET A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. 16525032 2006
CUI: C1865951
Disease: Ectodermal Dysplasia, Pure Hair-Nail Type
Ectodermal Dysplasia, Pure Hair-Nail Type 		0.700 Biomarker disease GENOMICS_ENGLAND A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. 16525032 2006
CUI: C1865951
Disease: Ectodermal Dysplasia, Pure Hair-Nail Type
Ectodermal Dysplasia, Pure Hair-Nail Type 		0.700 CausalMutation disease CLINVAR
CUI: C1865951
Disease: Ectodermal Dysplasia, Pure Hair-Nail Type
Ectodermal Dysplasia, Pure Hair-Nail Type 		0.700 Biomarker disease CTD_human