DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Senior-Loken Syndrome 5 ×

Gene: IQCB1 ×

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:	9657
Gene Symbol:	IQCB1

IQCB1

CUI:	C1836517
Disease:	Senior-Loken Syndrome 5

Senior-Loken Syndrome 5

0.600

CausalMutation

CLINVAR

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

23559409

2013

Entrez Id:	9657
Gene Symbol:	IQCB1

IQCB1

CUI:	C1836517
Disease:	Senior-Loken Syndrome 5

Senior-Loken Syndrome 5

0.600

CausalMutation

CLINVAR

IQCB1 mutations in patients with leber congenital amaurosis.

20881296

2011

Entrez Id:	9657
Gene Symbol:	IQCB1

IQCB1

CUI:	C1836517
Disease:	Senior-Loken Syndrome 5

Senior-Loken Syndrome 5

0.600

CausalMutation

CLINVAR

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

15723066

2005