KRT83, keratin 83, 3889

N. diseases: 29; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		0.100 Biomarker phenotype HPO
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 Biomarker disease HPO
CUI: C0334013
Disease: Phrynoderma
Phrynoderma 		0.100 Biomarker disease HPO
CUI: C4024867
Disease: Perifollicular hyperkeratosis
Perifollicular hyperkeratosis 		0.100 Biomarker disease HPO
CUI: C1862862
Disease: Patchy alopecia
Patchy alopecia 		0.100 Biomarker phenotype HPO
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		0.100 Biomarker disease HPO
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		0.100 Biomarker disease HPO
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		0.100 Biomarker disease HPO
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		0.100 Biomarker phenotype HPO
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 Biomarker disease CTD_human
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 CausalMutation disease CLINVAR
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 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		0.100 Biomarker disease HPO
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.100 Biomarker disease HPO
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease HPO
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.100 Biomarker disease HPO