DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Familial aplasia of the vermis ×

Gene: ARL13B ×

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:	200894
Gene Symbol:	ARL13B

ARL13B

CUI:	C0431399
Disease:	Familial aplasia of the vermis

Familial aplasia of the vermis

0.500

GermlineCausalMutation

ORPHANET

We identified mutations in ARL13B in two families with the classical form of JS.

2008