TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119455955
rs119455955
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0022340
Disease:
Late-Infantile Neuronal Ceroid Lipfuscinosis 		0.030 GeneticVariation BEFREE Collectively, these assessments indicate that the Cln2R207X/R207X mouse is a valid CLN2 disease model which can be used for the preclinical evaluation of all therapeutic approaches including mutation guided therapies. 28464005 2017
dbSNP: rs119455955
rs119455955
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0022340
Disease:
Late-Infantile Neuronal Ceroid Lipfuscinosis 		0.030 GeneticVariation BEFREE R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis. 12950156 2003
dbSNP: rs119455955
rs119455955
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0022340
Disease:
Late-Infantile Neuronal Ceroid Lipfuscinosis 		0.030 GeneticVariation BEFREE The previously reported nonsense mutation, 636 C-->T leading to R208stop, was found in 31% (5/16) of the cases, including one homozygote and accounted for 19% (6/32) of LINCL chromosomes. 9788728 1998
dbSNP: rs119455956
rs119455956
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0022340
Disease:
Late-Infantile Neuronal Ceroid Lipfuscinosis 		0.010 GeneticVariation BEFREE Association of the R447H mutation with a delayed onset form of LINCL in two separate families raised the question of whether R447H CLN2 retains residual activity. 11462245 2001
dbSNP: rs1184563885
rs1184563885
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0022340
Disease:
Late-Infantile Neuronal Ceroid Lipfuscinosis 		0.010 GeneticVariation BEFREE A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children. 10862088 2000