DisGeNET - a database of gene-disease associations

CLN5, CLN5 intracellular trafficking protein, 1203

N. diseases: 43; N. variants: 66

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs386833976

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

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

24058541

2013

dbSNP:

rs386833976

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

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

24038957

2013

dbSNP:

rs386833977

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

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

24038957

2013

dbSNP:

rs386833977

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

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

24058541

2013

dbSNP:

rs386833978

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

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

24038957

2013

dbSNP:

rs386833978

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

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

24058541

2013

dbSNP:

rs386833981

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

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

24058541

2013

dbSNP:

rs386833981

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

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

24038957

2013

dbSNP:

rs104894386

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

21990111

2012

dbSNP:

rs148862100

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

21990111

2012

dbSNP:

rs386833975

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

21990111

2012

dbSNP:

rs386833976

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

21990111

2012

dbSNP:

rs386833977

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

21990111

2012

dbSNP:

rs386833978

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

21990111

2012

dbSNP:

rs386833981

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

21990111

2012

dbSNP:

rs104894386

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

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

20052765

2010

dbSNP:

rs148862100

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

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

20052765

2010

dbSNP:

rs386833975

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

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

20052765

2010

dbSNP:

rs386833976

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

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

20052765

2010

dbSNP:

rs386833977

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

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

20052765

2010

dbSNP:

rs386833978

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

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

20052765

2010

dbSNP:

rs386833981

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

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

20052765

2010

dbSNP:

rs104894386

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

19309691

2009

dbSNP:

rs148862100

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

19309691

2009

dbSNP:

rs386833975

Entrez Id:	1203;26224
Gene Symbol:	CLN5;FBXL3

CLN5;FBXL3

CUI:	C1850442
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 5

0.800

GeneticVariation

UNIPROT

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

19309691

2009