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: rs1553167863
rs1553167863
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		A 0.700 GeneticVariation CLINVAR