Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516447
rs1057516447
PPT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516575
rs1057516575
PPT1
CA 0.700 GeneticVariation CLINVAR The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. 10781062

2000
dbSNP: rs1057516889
rs1057516889
PPT1
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517049
rs1057517049
PPT1
CAAGT 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517112
rs1057517112
PPT1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517192
rs1057517192
PPT1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517368
rs1057517368
PPT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517401
rs1057517401
PPT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307087
rs1085307087
PPT1
C 0.700 GeneticVariation CLINVAR A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient. 9571187

1998
dbSNP: rs1085307087
rs1085307087
PPT1
C 0.700 GeneticVariation CLINVAR Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. 9425237

1998
dbSNP: rs1265044710
rs1265044710
PPT1
A 0.700 GeneticVariation CLINVAR Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). 10679943

2000
dbSNP: rs1349528345
rs1349528345
PPT1
CT 0.700 GeneticVariation CLINVAR A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis. 23857568

2013
dbSNP: rs1349528345
rs1349528345
PPT1
CT 0.700 GeneticVariation CLINVAR The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. 10781062

2000
dbSNP: rs137852695
rs137852695
PPT1
A 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: rs137852695
rs137852695
PPT1
A 0.800 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs137852695
rs137852695
PPT1
0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009
dbSNP: rs137852695
rs137852695
PPT1
0.800 GeneticVariation UNIPROT Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. 7637805

1995
dbSNP: rs137852695
rs137852695
PPT1
A 0.800 CausalMutation CLINVAR The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. 10781062

2000
dbSNP: rs137852695
rs137852695
PPT1
A 0.800 CausalMutation CLINVAR Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 19941651

2009
dbSNP: rs137852695
rs137852695
PPT1
A 0.800 CausalMutation CLINVAR Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. 7637805

1995
dbSNP: rs137852695
rs137852695
PPT1
A 0.800 CausalMutation CLINVAR Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077

1998
dbSNP: rs137852695
rs137852695
PPT1
0.800 GeneticVariation UNIPROT Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077

1998
dbSNP: rs137852695
rs137852695
PPT1
0.800 GeneticVariation UNIPROT Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. 11506414

2001
dbSNP: rs137852695
rs137852695
PPT1
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: rs137852695
rs137852695
PPT1
0.800 GeneticVariation UNIPROT Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 19941651

2009