TBCK, TBC1 domain containing kinase, 93627

N. diseases: 85; N. variants: 11
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype GENOMICS_ENGLAND Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. 27040692 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.400 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype HPO