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: rs386833635
rs386833635
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		T 0.700 CausalMutation CLINVAR Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). 10679943 2000
dbSNP: rs386833635
rs386833635
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		T 0.700 GeneticVariation CLINVAR