PPT2, palmitoyl-protein thioesterase 2, 9374

N. diseases: 27; N. variants: 11
Disease: Lysosomal Storage Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.020 Biomarker group BEFREE Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features. 14528005 2003
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.020 Biomarker group BEFREE These polymorphisms (and a microsatellite discovered within PPT2) will aid in the further delineation of the possible role of PPT2 in lysosomal storage disorders of unknown etiology. 10051407 1999