rs202189057, TPP1

N. diseases: 2
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CEROID LIPOFUSCINOSIS, NEURONAL, 2
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.700 GeneticVariation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
CEROID LIPOFUSCINOSIS, NEURONAL, 2
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.700 GeneticVariation CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810 2013
CEROID LIPOFUSCINOSIS, NEURONAL, 2
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.700 GeneticVariation CLINVAR Genotype analysis of the TPP1 gene in the 'classical' CLN2 patients showed the presence of the known mutation p.Arg208X and the novel mutations p.Leu104X, p.Asp276Val, and p.Ala453Val. 19793312 2009
CEROID LIPOFUSCINOSIS, NEURONAL, 2
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.700 GeneticVariation CLINVAR The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. 18684116 2008
CEROID LIPOFUSCINOSIS, NEURONAL, 2
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.700 CausalMutation CLINVAR