DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Multiple congenital anomalies ×

Variant: rs866395428 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs866395428

LCA5

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

17546029

2007

dbSNP:

rs866395428

LCA5

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

18000884

2007

dbSNP:

rs866395428

LCA5

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

12642313

2003

dbSNP:

rs866395428

LCA5

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

A novel locus for Leber congenital amaurosis maps to chromosome 6q.

10631161

2000