KRT74, keratin 74, 121391

N. diseases: 31; N. variants: 4
Disease: HYPOTRICHOSIS 3 ×
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: 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: C3151432
Disease: HYPOTRICHOSIS 3
HYPOTRICHOSIS 3 		0.600 CausalMutation disease CLINVAR