rs398122959, TPP1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
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
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
0.800 CausalMutation CLINVAR
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
0.700 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