DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Joubert syndrome 1 ×

Gene: KIAA0556 ×

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:	23247
Gene Symbol:	KIAA0556

KIAA0556

CUI:	C4551568
Disease:	Joubert syndrome 1

Joubert syndrome 1

0.300

GermlineCausalMutation

ORPHANET

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.

2015