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
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
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
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
ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE
0.600 Biomarker disease CTD_human