DisGeNET - a database of gene-disease associations

KRT16, keratin 16, 3868

N. diseases: 97; N. variants: 14

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs60723330

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:

rs60723330

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

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

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:

rs57424749

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:

rs58608173

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:

rs587777717

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:

rs60723330

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

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:

rs28928895

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:

rs57424749

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:

rs58608173

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:

rs587777717

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:

rs60723330

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

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

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

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

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:

rs57424749

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:

rs57424749

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:

rs58608173

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:

rs58608173

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:

rs587777717

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:

rs587777717

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:

rs60723330

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