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: Ectodermal Dysplasia ×

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:	C0013575
Disease:	Ectodermal Dysplasia

Ectodermal Dysplasia

0.110

GeneticVariation

disease

BEFREE

Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.

30289605

2018

CUI:	C0013575
Disease:	Ectodermal Dysplasia

Ectodermal Dysplasia

0.110

Biomarker

disease

HPO