DisGeNET - a database of gene-disease associations

Neuronal Ceroid-Lipofuscinoses, C0027877

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:

rs137852700

PPT1

0.710

GeneticVariation

BEFREE

Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2.

16720047

2006

dbSNP:

rs267606737

CLN3

0.710

GeneticVariation

BEFREE

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

19489875

2009

dbSNP:

rs1060502179

TPP1

0.700

GeneticVariation

CLINVAR

dbSNP:

rs113019349

TPP1

0.700

GeneticVariation

CLINVAR

Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.

10330339

1999

dbSNP:

rs121908209

TPP1

0.700

GeneticVariation

CLINVAR

[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].

12698559

2003

dbSNP:

rs1554902052

TPP1

0.700

GeneticVariation

CLINVAR

Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.

11339651

2001

dbSNP:

rs1554902052

TPP1

0.700

GeneticVariation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs1564855725

TPP1

0.700

GeneticVariation

CLINVAR

dbSNP:

rs386833645

PPT1

0.700

GeneticVariation

CLINVAR

Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency.

10191107

1999

dbSNP:

rs386833645

PPT1

0.700

GeneticVariation

CLINVAR

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

9664077

1998

dbSNP:

rs386833645

PPT1

0.700

GeneticVariation

CLINVAR

Neuronal ceroid lipofuscinoses: research update.

11073228

2000

dbSNP:

rs386833645

PPT1

0.700

GeneticVariation

CLINVAR

Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.

17565660

2007

dbSNP:

rs386833645

PPT1

0.700

GeneticVariation

CLINVAR

Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.

11440996

2001

dbSNP:

rs386833694

CLN3

0.700

GeneticVariation

CLINVAR

Batten disease: evaluation of CLN3 mutations on protein localization and function.

10749980

2000

dbSNP:

rs386833694

CLN3

0.700

GeneticVariation

CLINVAR

Spectrum of mutations in the Batten disease gene, CLN3.

9311735

1997

dbSNP:

rs386833694

CLN3

0.700

GeneticVariation

CLINVAR

Nitric oxide signaling is disrupted in the yeast model for Batten disease.

17475770

2007

dbSNP:

rs386833694

CLN3

0.700

GeneticVariation

CLINVAR

Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.

17868323

2007

dbSNP:

rs386833694

CLN3

0.700

GeneticVariation

CLINVAR

btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis.

16291725

2005

dbSNP:

rs386833694

CLN3

0.700

GeneticVariation

CLINVAR

The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.

19132115

2009

dbSNP:

rs386833698

CLN3

0.700

GeneticVariation

CLINVAR

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.

24271013

2014

dbSNP:

rs386833975

CLN5 ; FBXL3

0.700

GeneticVariation

CLINVAR

dbSNP:

rs587779411

CLN8

0.700

GeneticVariation

CLINVAR

dbSNP:

rs746085696

TPP1

0.700

GeneticVariation

CLINVAR

Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.

23266810

2013

dbSNP:

rs794729218

CLN5 ; FBXL3

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1267314028

CLN3

0.010

GeneticVariation

BEFREE

We determined that the mutations 223A --> G and 451C --> T in CLN1, T523-1G --> C, and 636 C --> T in CLN2, and deletion of a 1.02-kb genomic fragment in CLN3 are the five common mutations for NCL.

11142754

2000