DisGeNET - a database of gene-disease associations

CEROID LIPOFUSCINOSIS, NEURONAL, 5, C1850442

Variant: rs386833969 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs386833969

CLN5 ; FBXL3

0.700

CausalMutation

CLINVAR

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.

9662406

1998

dbSNP:

rs386833969

CLN5 ; FBXL3

0.700

CausalMutation

CLINVAR

The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.

24058541

2013

dbSNP:

rs386833969

CLN5 ; FBXL3

0.700

CausalMutation

CLINVAR

Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.

24038957

2013

dbSNP:

rs386833969

CLN5 ; FBXL3

0.700

CausalMutation

CLINVAR

The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.

20052765

2010

dbSNP:

rs386833969

CLN5 ; FBXL3

0.700

CausalMutation

CLINVAR

Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).

10953198

2000

dbSNP:

rs386833969

CLN5 ; FBXL3

0.700

CausalMutation

CLINVAR

Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.

12134079

2002