TBC1D7, TBC1 domain family member 7, 51256

N. diseases: 26; N. variants: 7
Disease: Macroencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2720434
Disease: Macroencephaly
Macroencephaly 		0.010 Biomarker disease BEFREE Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. 23687350 2013