Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852699
rs137852699
PPT1
T 0.700 GeneticVariation CLINVAR Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. 24997880

2014
dbSNP: rs1553166337
rs1553166337
PPT1
G 0.700 GeneticVariation CLINVAR Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. 24997880

2014
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: rs137852699
rs137852699
PPT1
T 0.700 GeneticVariation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013
dbSNP: rs386833625
rs386833625
PPT1
G 0.700 GeneticVariation 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: rs386833634
rs386833634
PPT1
AT 0.700 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: rs386833646
rs386833646
PPT1
0.700 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: rs386833649
rs386833649
PPT1
A 0.700 GeneticVariation 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: rs137852699
rs137852699
PPT1
T 0.700 GeneticVariation CLINVAR Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients. 21704547

2011
dbSNP: rs386833646
rs386833646
PPT1
0.700 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009
dbSNP: rs386833646
rs386833646
PPT1
0.700 GeneticVariation UNIPROT Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 19941651

2009
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: rs386833645
rs386833645
PPT1
T 0.700 GeneticVariation CLINVAR Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. 17565660

2007
dbSNP: rs386833655
rs386833655
PPT1
T 0.700 GeneticVariation CLINVAR [Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis]. 17044973

2006
dbSNP: rs137852699
rs137852699
PPT1
T 0.700 GeneticVariation CLINVAR Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. 11440996

2001
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: rs386833645
rs386833645
PPT1
T 0.700 GeneticVariation CLINVAR Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. 11440996

2001
dbSNP: rs386833646
rs386833646
PPT1
0.700 GeneticVariation UNIPROT Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. 11506414

2001
dbSNP: rs386833655
rs386833655
PPT1
T 0.700 GeneticVariation CLINVAR Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. 11440996

2001
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: 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 The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. 10781062

2000
dbSNP: rs137852699
rs137852699
PPT1
T 0.700 GeneticVariation CLINVAR Neuronal ceroid lipofuscinoses: research update. 11073228

2000
dbSNP: rs386833634
rs386833634
PPT1
AT 0.700 CausalMutation CLINVAR Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). 10679943

2000