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: rs137852701
rs137852701
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		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: rs137852701
rs137852701
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
dbSNP: rs137852701
rs137852701
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		0.800 GeneticVariation UNIPROT Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 19941651 2009
dbSNP: rs137852701
rs137852701
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		0.800 GeneticVariation UNIPROT Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. 11506414 2001
dbSNP: rs137852701
rs137852701
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		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: rs137852701
rs137852701
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		0.800 GeneticVariation UNIPROT Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077 1998
dbSNP: rs137852701
rs137852701
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		0.800 GeneticVariation UNIPROT Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. 7637805 1995
dbSNP: rs137852701
rs137852701
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		G 0.800 CausalMutation CLINVAR