TBCK, TBC1 domain containing kinase, 93627

N. diseases: 85; N. variants: 11
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 GeneticVariation group BEFREE Autosomal-recessive mutations in TBCK cause intellectual disability of variable severity. 29283439 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 Biomarker group BEFREE TBCK-related intellectual disability syndrome: Case study of two patients. 27748029 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 GeneticVariation group BEFREE Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. 27040691 2016