KRT74, keratin 74, 121391

N. diseases: 31; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151432
Disease: HYPOTRICHOSIS 3
HYPOTRICHOSIS 3 		0.600 Biomarker disease GENOMICS_ENGLAND Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. 24714551 2014
CUI: C3554117
Disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE
ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE 		0.600 Biomarker disease GENOMICS_ENGLAND Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. 24714551 2014
CUI: C3554117
Disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE
ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE 		0.600 Biomarker disease GENOMICS_ENGLAND Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. 24714551 2014
CUI: C3554117
Disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE
ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE 		0.600 GeneticVariation disease UNIPROT Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. 24714551 2014
CUI: C3151432
Disease: HYPOTRICHOSIS 3
HYPOTRICHOSIS 3 		0.600 GeneticVariation disease UNIPROT Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. 21188418 2011
CUI: C3151432
Disease: HYPOTRICHOSIS 3
HYPOTRICHOSIS 3 		0.600 Biomarker disease GENOMICS_ENGLAND Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. 21188418 2011
CUI: C3151432
Disease: HYPOTRICHOSIS 3
HYPOTRICHOSIS 3 		0.600 Biomarker disease GENOMICS_ENGLAND Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. 21188418 2011
CUI: C1860238
Disease: WOOLLY HAIR, AUTOSOMAL DOMINANT
WOOLLY HAIR, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease UNIPROT Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. 20346438 2010
CUI: C1860238
Disease: WOOLLY HAIR, AUTOSOMAL DOMINANT
WOOLLY HAIR, AUTOSOMAL DOMINANT 		0.600 Biomarker disease CTD_human
CUI: C1860238
Disease: WOOLLY HAIR, AUTOSOMAL DOMINANT
WOOLLY HAIR, AUTOSOMAL DOMINANT 		0.600 CausalMutation disease CLINVAR
CUI: C3151432
Disease: HYPOTRICHOSIS 3
HYPOTRICHOSIS 3 		0.600 CausalMutation disease CLINVAR
CUI: C3554117
Disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE
ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE 		0.600 Biomarker disease CTD_human
CUI: C0343073
Disease: Wooly hair
Wooly hair 		0.400 GermlineCausalMutation phenotype ORPHANET Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. 21188418 2011
CUI: C0343073
Disease: Wooly hair
Wooly hair 		0.400 GermlineCausalMutation phenotype ORPHANET Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. 20346438 2010
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.400 Biomarker disease HPO
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.400 Biomarker disease CTD_human
CUI: C0343073
Disease: Wooly hair
Wooly hair 		0.400 Biomarker phenotype HPO
CUI: C1865951
Disease: Ectodermal Dysplasia, Pure Hair-Nail Type
Ectodermal Dysplasia, Pure Hair-Nail Type 		0.300 GermlineCausalMutation disease ORPHANET Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. 24714551 2014
CUI: C0345427
Disease: Woolly hair, congenital
Woolly hair, congenital 		0.300 GermlineCausalMutation disease ORPHANET Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. 21188418 2011
CUI: C1840299
Disease: Hypotrichosis Simplex of Scalp
Hypotrichosis Simplex of Scalp 		0.300 GermlineCausalMutation disease ORPHANET Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. 21188418 2011
CUI: C0345427
Disease: Woolly hair, congenital
Woolly hair, congenital 		0.300 GermlineCausalMutation disease ORPHANET Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. 20346438 2010
CUI: C0002170
Disease: Alopecia
Alopecia 		0.110 GeneticVariation disease BEFREE The sequence analysis revealed a splice acceptor site mutation (c.IVS8-1G>A) in family A and a missense variant (c.1444G>A, p.Asp482Asn) in family B. Mutations identified in the present study extend the body of evidence implicating the KRT74 gene in the pathogenesis of autosomal dominant hair loss disorders. 21188418 2011
CUI: C0002170
Disease: Alopecia
Alopecia 		0.110 Biomarker disease HPO
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO