DisGeNET - a database of gene-disease associations

Epidermolysis Bullosa Simplex Kobner, C0079299

Variant: rs61222761 ×

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:

rs61222761

rs61222761

KRT5

0.010

GeneticVariation

BEFREE

We identified a novel mutation (Asp158Val) in the H1 domain of the K5 gene in this Japanese patient with EBS-KB.

2006