PPT1, palmitoyl-protein thioesterase 1, 5538

N. diseases: 112; N. variants: 90
Disease: Neuronal Ceroid-Lipofuscinoses ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852700
rs137852700
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.710 CausalMutation CLINVAR Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype. 25574475 2014
dbSNP: rs137852700
rs137852700
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		0.710 GeneticVariation BEFREE Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2. 16720047 2006
dbSNP: rs137852700
rs137852700
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.710 CausalMutation CLINVAR Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077 1998
dbSNP: rs137852700
rs137852700
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.710 CausalMutation CLINVAR Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. 9425237 1998