rs119455955, TPP1

N. diseases: 4
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Late-Infantile Neuronal Ceroid Lipfuscinosis
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
Late-Infantile Neuronal Ceroid Lipfuscinosis
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
Late-Infantile Neuronal Ceroid Lipfuscinosis
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