Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833650
rs386833650
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012

dbSNP: rs386833650
rs386833650
C 0.800 CausalMutation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012

dbSNP: rs386833650
rs386833650
0.800 GeneticVariation UNIPROT Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 19941651

2009

dbSNP: rs386833650
rs386833650
0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009

dbSNP: rs386833650
rs386833650
0.800 GeneticVariation UNIPROT Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. 11506414

2001

dbSNP: rs386833650
rs386833650
C 0.800 CausalMutation CLINVAR Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. 11440996

2001

dbSNP: rs386833650
rs386833650
C 0.800 CausalMutation CLINVAR Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis. 10649502

2000

dbSNP: rs386833650
rs386833650
0.800 GeneticVariation UNIPROT Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077

1998

dbSNP: rs386833650
rs386833650
0.800 GeneticVariation UNIPROT Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. 9425237

1998

dbSNP: rs386833650
rs386833650
C 0.800 GeneticVariation CLINVAR Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077

1998

dbSNP: rs386833650
rs386833650
C 0.800 CausalMutation CLINVAR Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077

1998

dbSNP: rs386833650
rs386833650
0.800 GeneticVariation UNIPROT Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. 7637805

1995

dbSNP: rs386833650
rs386833650
A 0.800 GeneticVariation CLINVAR