PPT1, palmitoyl-protein thioesterase 1, 5538

N. diseases: 112; N. variants: 90
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833637
rs386833637
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		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
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		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
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		C 0.700 GeneticVariation CLINVAR New mutations in the neuronal ceroid lipofuscinosis genes. 11589012 2001
dbSNP: rs386833637
rs386833637
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		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
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		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