TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122959
rs398122959
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1836474
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		0.800 GeneticVariation UNIPROT 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: rs398122959
rs398122959
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1836474
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		C 0.800 CausalMutation CLINVAR
dbSNP: rs119455955
rs119455955
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1836474
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		A 0.700 CausalMutation CLINVAR
dbSNP: rs119455957
rs119455957
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1836474
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		A 0.700 CausalMutation CLINVAR
dbSNP: rs56144125
rs56144125
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1836474
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		G 0.700 CausalMutation CLINVAR
dbSNP: rs756564767
rs756564767
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1836474
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886037833
rs886037833
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1836474
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		G 0.700 CausalMutation CLINVAR