Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.020 Biomarker disease BEFREE In neutral conditions, pH 6.0, the PPT1 enzyme activities in NCL 1 patients showed rather higher residual activities and intermediate activities in heterozygotes in NCL 1, which was probably caused by mutated proteins in three cases with NCL 1 patients. 29599076 2018
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.020 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively. 30541466 2018