DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Lumbosacral hirsutism ×

Gene: ARID1B ×

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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	57492
Gene Symbol:	ARID1B

ARID1B

CUI:	C1851095
Disease:	Lumbosacral hirsutism

Lumbosacral hirsutism

0.100

CausalMutation

CLINVAR

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

26350204

2015

Entrez Id:	57492
Gene Symbol:	ARID1B

ARID1B

CUI:	C1851095
Disease:	Lumbosacral hirsutism

Lumbosacral hirsutism

0.100

CausalMutation

CLINVAR

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

22426309

2012

Entrez Id:	57492
Gene Symbol:	ARID1B

ARID1B

CUI:	C1851095
Disease:	Lumbosacral hirsutism

Lumbosacral hirsutism

0.100

Biomarker

HPO