TBCK, TBC1 domain containing kinase, 93627

N. diseases: 85; N. variants: 11
Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.110 Biomarker group BEFREE Given that mTORC1 signaling is known to regulate autophagy, we hypothesized that TBCK-encephalopathy patients with a neurodegenerative course have defects in autophagic-lysosomal dysfunction. 29283439 2018
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.110 Biomarker group HPO