TBCK, TBC1 domain containing kinase, 93627

N. diseases: 85; 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 		0.010 Biomarker group BEFREE These investigations strikingly uncover TBCK-DD as a novel type of lysosomal storage disease which is characterized by different storage products rather than one specific type of accumulated material. 30591081 2018