DisGeNET - a database of gene-disease associations

SMARCAD1, SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1, 56916

N. diseases: 54; N. variants: 7

Disease: Keratoderma, Palmoplantar ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4551675
Disease:	Keratoderma, Palmoplantar

Keratoderma, Palmoplantar

0.400

Biomarker

disease

GENOMICS_ENGLAND

Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes.

24909267

2014

CUI:	C4551675
Disease:	Keratoderma, Palmoplantar

Keratoderma, Palmoplantar

0.400

Biomarker

disease

GENOMICS_ENGLAND

Analysis of two candidate genes for Basan syndrome.

24664640

2014

CUI:	C4551675
Disease:	Keratoderma, Palmoplantar

Keratoderma, Palmoplantar

0.400

Biomarker

disease

HPO