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 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 		0.810 GeneticVariation UNIPROT
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 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 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 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 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: rs57424749
rs57424749
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: rs57424749
rs57424749
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: rs58608173
rs58608173
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: rs58608173
rs58608173
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: rs587777717
rs587777717
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: rs587777717
rs587777717
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: rs60723330
rs60723330
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: rs60723330
rs60723330
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 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 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 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: rs57424749
rs57424749
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: rs57424749
rs57424749
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: rs58608173
rs58608173
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: rs58608173
rs58608173
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: rs587777717
rs587777717
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: rs587777717
rs587777717
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