DisGeNET - a database of gene-disease associations

PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1, C4552049

Variant: rs60723330 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs60723330

rs60723330

KRT16

0.800

GeneticVariation

UNIPROT

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.

1995

dbSNP:

rs60723330

rs60723330

KRT16

C

0.800

CausalMutation

CLINVAR