DisGeNET - a database of gene-disease associations

CEROID LIPOFUSCINOSIS, NEURONAL, 2, C1876161

Variant: rs119455957 ×

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:

rs119455957

TPP1

0.700

CausalMutation

CLINVAR

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

21990111

2012

dbSNP:

rs119455957

TPP1

0.700

CausalMutation

CLINVAR

Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.

20340139

2010

dbSNP:

rs119455957

TPP1

0.700

CausalMutation

CLINVAR

Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.

19038966

2009

dbSNP:

rs119455957

TPP1

0.700

CausalMutation

CLINVAR

The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.

18684116

2008

dbSNP:

rs119455957

TPP1

0.700

CausalMutation

CLINVAR

Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.

12414822

2002

dbSNP:

rs119455957

TPP1

0.700

CausalMutation

CLINVAR

Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.

11339651

2001