Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3887
Gene Symbol: KRT81
KRT81
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 GeneticVariation UNIPROT The Venezuelan kindred is special for having patients with digenic novel nucleotide changes, a KRT86 mutation associated with monilethrix and a KRT81 variant of unknown clinical significance. 25557232

2015
Entrez Id: 3889
Gene Symbol: KRT83
KRT83
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 GeneticVariation UNIPROT Novel KRT83 and KRT86 mutations associated with monilethrix. 25557232

2015
Entrez Id: 3889
Gene Symbol: KRT83
KRT83
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 GeneticVariation UNIPROT A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. 15744029

2005
Entrez Id: 3887
Gene Symbol: KRT81
KRT81
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 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
Entrez Id: 3887
Gene Symbol: KRT81
KRT81
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 GeneticVariation UNIPROT A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. 9402962

1997
Entrez Id: 3892
Gene Symbol: KRT86
KRT86
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.650 GeneticVariation UNIPROT The Venezuelan kindred is special for having patients with digenic novel nucleotide changes, a KRT86 mutation associated with monilethrix and a KRT81 variant of unknown clinical significance. 25557232

2015
Entrez Id: 3892
Gene Symbol: KRT86
KRT86
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.650 GeneticVariation UNIPROT Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6. 10469314

1999
Entrez Id: 3892
Gene Symbol: KRT86
KRT86
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.650 GeneticVariation UNIPROT Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. 10504448

1999
Entrez Id: 3892
Gene Symbol: KRT86
KRT86
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.650 GeneticVariation UNIPROT Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. 10594761

1999
Entrez Id: 3892
Gene Symbol: KRT86
KRT86
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.650 GeneticVariation UNIPROT A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. 9402962

1997