Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833637
rs386833637
PPT1
C 0.700 GeneticVariation CLINVAR Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. 17565660

2007
dbSNP: rs386833637
rs386833637
PPT1
C 0.700 GeneticVariation CLINVAR Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis. 11520175

2001
dbSNP: rs386833637
rs386833637
PPT1
C 0.700 GeneticVariation CLINVAR New mutations in the neuronal ceroid lipofuscinosis genes. 11589012

2001
dbSNP: rs386833637
rs386833637
PPT1
C 0.700 GeneticVariation CLINVAR Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). 10679943

2000
dbSNP: rs386833637
rs386833637
PPT1
C 0.700 GeneticVariation CLINVAR Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis. 10649502

2000