Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908195
rs121908195
TPP1
G 0.800 GeneticVariation CLINVAR Clinical application of whole-exome sequencing across clinical indications. 26633542

2016
dbSNP: rs121908195
rs121908195
TPP1
T 0.800 CausalMutation CLINVAR Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). 23418007

2013
dbSNP: rs121908195
rs121908195
TPP1
T 0.800 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: rs121908195
rs121908195
TPP1
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: rs121908195
rs121908195
TPP1
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs121908195
rs121908195
TPP1
T 0.800 CausalMutation CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010
dbSNP: rs121908195
rs121908195
TPP1
G 0.800 GeneticVariation CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010
dbSNP: rs121908195
rs121908195
TPP1
0.800 GeneticVariation UNIPROT Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010
dbSNP: rs121908195
rs121908195
TPP1
0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009
dbSNP: rs121908195
rs121908195
TPP1
G 0.800 GeneticVariation CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966

2009
dbSNP: rs121908195
rs121908195
TPP1
T 0.800 CausalMutation CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966

2009
dbSNP: rs121908195
rs121908195
TPP1
G 0.800 GeneticVariation CLINVAR Prosegment of tripeptidyl peptidase I is a potent, slow-binding inhibitor of its cognate enzyme. 18411270

2008
dbSNP: rs121908195
rs121908195
TPP1
0.800 GeneticVariation UNIPROT Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity. 14736728

2004
dbSNP: rs121908195
rs121908195
TPP1
0.800 GeneticVariation UNIPROT [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation]. 12698559

2003
dbSNP: rs121908195
rs121908195
TPP1
0.800 GeneticVariation UNIPROT Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. 12376936

2002
dbSNP: rs121908195
rs121908195
TPP1
0.800 GeneticVariation UNIPROT Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles. 12414822

2002
dbSNP: rs121908195
rs121908195
TPP1
0.800 GeneticVariation UNIPROT Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. 11339651

2001
dbSNP: rs121908195
rs121908195
TPP1
T 0.800 CausalMutation CLINVAR Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders. 11589013

2001
dbSNP: rs121908195
rs121908195
TPP1
0.800 GeneticVariation UNIPROT Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis. 11241479

2001
dbSNP: rs121908195
rs121908195
TPP1
0.800 GeneticVariation UNIPROT New mutations in the neuronal ceroid lipofuscinosis genes. 11589012

2001
dbSNP: rs121908195
rs121908195
TPP1
0.800 GeneticVariation UNIPROT Prenatal testing for late infantile neuronal ceroid lipofuscinosis. 10665500

2000
dbSNP: rs121908195
rs121908195
TPP1
0.800 GeneticVariation UNIPROT Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339

1999
dbSNP: rs121908195
rs121908195
TPP1
T 0.800 CausalMutation CLINVAR Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339

1999
dbSNP: rs121908195
rs121908195
TPP1
0.800 GeneticVariation UNIPROT Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. 9295267

1997