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: 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
CUI: C4024880
Disease: Hair-nail ectodermal dysplasia
Hair-nail ectodermal dysplasia 		0.110 GeneticVariation disease BEFREE Our study confirms linkage of a variant clinical form of hair-nail ectodermal dysplasia to chromosome 12 without any mutation in the coding sequences of the KRTHB5 gene. 20409997 2010
CUI: C4024880
Disease: Hair-nail ectodermal dysplasia
Hair-nail ectodermal dysplasia 		0.110 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0085661
Disease: Onycholysis
Onycholysis 		0.100 Biomarker disease HPO
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		0.100 Biomarker disease HPO
CUI: C0263490
Disease: Brittle hair
Brittle hair 		0.100 Biomarker disease HPO
CUI: C0263491
Disease: Pili Torti
Pili Torti 		0.100 Biomarker phenotype HPO
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		0.100 Biomarker disease HPO
CUI: C1393669
Disease: Congenital onychodystrophy
Congenital onychodystrophy 		0.100 Biomarker disease HPO
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		0.100 Biomarker phenotype HPO
CUI: C4025316
Disease: Temporal hypotrichosis
Temporal hypotrichosis 		0.100 Biomarker disease HPO
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
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		0.010 GeneticVariation disease BEFREE Sequence analysis of the coding regions of keratin KRTHB5 gene, previously associated with a distinct clinical form of hair-nail dysplasia, revealed normal coding regions. 20409997 2010
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		0.010 GeneticVariation disease BEFREE Sequence analysis of the coding regions of keratin KRTHB5 gene, previously associated with a distinct clinical form of hair-nail dysplasia, revealed normal coding regions. 20409997 2010