DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Joubert syndrome 1 ×

Gene: CEP41 ×

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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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	95681
Gene Symbol:	CEP41

CEP41

CUI:	C4551568
Disease:	Joubert syndrome 1

Joubert syndrome 1

0.300

GermlineCausalMutation

ORPHANET

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

2012