rs386833645, PPT1

N. diseases: 2
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CEROID LIPOFUSCINOSIS, NEURONAL, 1
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
0.700 GeneticVariation CLINVAR Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. 17565660 2007
CEROID LIPOFUSCINOSIS, NEURONAL, 1
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
0.700 GeneticVariation CLINVAR Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. 11440996 2001
CEROID LIPOFUSCINOSIS, NEURONAL, 1
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
0.700 GeneticVariation CLINVAR Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077 1998
CEROID LIPOFUSCINOSIS, NEURONAL, 1
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
0.700 GeneticVariation CLINVAR Translation initiation at non-AUG triplets in mammalian cells. 2538469 1989