rs137852700, PPT1

N. diseases: 4
Disease: Infantile neuronal ceroid lipofuscinosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Infantile neuronal ceroid lipofuscinosis
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
0.020 GeneticVariation BEFREE Here, we provide the initial characterization of the novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis that we have generated. 25205113 2015
Infantile neuronal ceroid lipofuscinosis
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
0.020 GeneticVariation BEFREE Both CLN1 patients had a juvenile-onset phenotype with mutation studies of one patient demonstrating the known mutation p.Arg151X and a novel mutation in intron 3, c.363-3T>G. 19793312 2009