DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Familial aplasia of the vermis ×

Gene: ARL3 ×

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:	403
Gene Symbol:	ARL3

ARL3

CUI:	C0431399
Disease:	Familial aplasia of the vermis

Familial aplasia of the vermis

0.330

GermlineCausalMutation

ORPHANET

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

2018