KRT86, keratin 86, 3892

N. diseases: 23; N. variants: 11
Disease: Monilethrix ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57419521
rs57419521
Entrez Id: 3887;3892
Gene Symbol: KRT81;KRT86
KRT81;KRT86
CUI: C0546966
Disease:
Monilethrix 		0.810 GeneticVariation UNIPROT Novel KRT83 and KRT86 mutations associated with monilethrix. 25557232 2015
dbSNP: rs57419521
rs57419521
Entrez Id: 3887;3892
Gene Symbol: KRT81;KRT86
KRT81;KRT86
CUI: C0546966
Disease:
Monilethrix 		0.810 GeneticVariation BEFREE We investigated 21 affected individuals in two unrelated monilethrix families of Indian origin and identified point mutation (g.4624G>A) in the HTM motif (exon-7) of the KRTHB6 gene in all the affected members leading to E413K change in this basic keratin. 15050877 2004
dbSNP: rs57419521
rs57419521
Entrez Id: 3887;3892
Gene Symbol: KRT81;KRT86
KRT81;KRT86
CUI: C0546966
Disease:
Monilethrix 		0.810 GeneticVariation UNIPROT A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1. 9665406 1998
dbSNP: rs57419521
rs57419521
Entrez Id: 3887;3892
Gene Symbol: KRT81;KRT86
KRT81;KRT86
CUI: C0546966
Disease:
Monilethrix 		0.810 GeneticVariation UNIPROT A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. 9402962 1997
dbSNP: rs57419521
rs57419521
Entrez Id: 3887;3892
Gene Symbol: KRT81;KRT86
KRT81;KRT86
CUI: C0546966
Disease:
Monilethrix 		T 0.810 CausalMutation CLINVAR