KRT83, keratin 83, 3889

N. diseases: 29; N. variants: 11
Disease: Monilethrix ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 GeneticVariation disease UNIPROT Novel KRT83 and KRT86 mutations associated with monilethrix. 25557232 2015
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 GeneticVariation disease BEFREE Novel KRT83 and KRT86 mutations associated with monilethrix. 25557232 2015
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 GeneticVariation disease BEFREE Diagnostic exome analysis revealed a heterozygous nonsense mutation in KRT83 categorized as deleterious and associated with monilethrix. 23610050 2013
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 GeneticVariation disease UNIPROT A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. 15744029 2005
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 GeneticVariation disease CLINVAR A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. 15744029 2005
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 GermlineCausalMutation disease ORPHANET A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. 15744029 2005
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 Biomarker disease CTD_human
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 CausalMutation disease CLINVAR