DisGeNET - a database of gene-disease associations

KRT6C, keratin 6C, 286887

N. diseases: 14; N. variants: 4

Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 ×

Variant: rs267607474 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs267607474

1.000

0.120

52473220

inframe deletion

TTG/-

delins

CUI:	C4552049
Disease:	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1

PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases

0.700