PPT1, palmitoyl-protein thioesterase 1, 5538

N. diseases: 112; N. variants: 90
Disease: Ceroid lipofuscinosis, neuronal 1, infantile ×
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: C2931673
Disease:
Ceroid lipofuscinosis, neuronal 1, infantile 		0.010 GeneticVariation BEFREE The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy. 25205113 2015