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 with scleroatrophy of the extremities ×

Source: ALL

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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:	C0406767
Disease:	Keratoderma with scleroatrophy of the extremities

Keratoderma with scleroatrophy of the extremities

0.600

GermlineCausalMutation

disease

ORPHANET

SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility.

29409814

2018

CUI:	C0406767
Disease:	Keratoderma with scleroatrophy of the extremities

Keratoderma with scleroatrophy of the extremities

0.600

CausalMutation

disease

CLINVAR

CUI:	C0406767
Disease:	Keratoderma with scleroatrophy of the extremities

Keratoderma with scleroatrophy of the extremities

0.600

Biomarker

disease

CTD_human