KRT16, keratin 16, 3868

N. diseases: 97; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58293603
rs58293603
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.810 GeneticVariation UNIPROT
dbSNP: rs58293603
rs58293603
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.810 GeneticVariation BEFREE A heterozygous missense mutation (L124R) was detected in a kindred with PC-1. 10839714 2000
dbSNP: rs58293603
rs58293603
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		C 0.810 CausalMutation CLINVAR
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1. 10521820 1999
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma. 22668561 2013
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. 11886499 2001
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT A large mutational study in pachyonychia congenita. 21326300 2011
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. 11359398 2001
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT Keratin 16 and keratin 17 mutations cause pachyonychia congenita. 7539673 1995
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1. 10606845 1999
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		G 0.800 CausalMutation CLINVAR
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. 10839714 2000
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT The genetic basis of pachyonychia congenita. 16250206 2005
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. 21160496 2011
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. 17719747 2007
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT A new KRT16 mutation associated with a phenotype of pachyonychia congenita. 24118415 2013
dbSNP: rs28928895
rs28928895
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. 17719747 2007
dbSNP: rs28928895
rs28928895
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1. 10606845 1999
dbSNP: rs28928895
rs28928895
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations. 21160496 2011
dbSNP: rs28928895
rs28928895
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT A large mutational study in pachyonychia congenita. 21326300 2011
dbSNP: rs28928895
rs28928895
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT Keratin 16 and keratin 17 mutations cause pachyonychia congenita. 7539673 1995
dbSNP: rs28928895
rs28928895
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. 10839714 2000
dbSNP: rs28928895
rs28928895
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT A new KRT16 mutation associated with a phenotype of pachyonychia congenita. 24118415 2013
dbSNP: rs28928895
rs28928895
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. 11359398 2001
dbSNP: rs28928895
rs28928895
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		T 0.800 CausalMutation CLINVAR