TBC1D7, TBC1 domain family member 7, 51256

N. diseases: 26; N. variants: 7
Disease: Macrocephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.620 GeneticVariation disease BEFREE Mutations in TBC1D7 were reported in a family with intellectual disability (ID) and macrocrania. 24515783 2014
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.620 Biomarker disease GENOMICS_ENGLAND Mutations in TBC1D7 were reported in a family with intellectual disability (ID) and macrocrania. 24515783 2014
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.620 Biomarker disease BEFREE Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. 23687350 2013
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.620 GermlineCausalMutation disease ORPHANET Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. 23687350 2013
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.620 Biomarker disease HPO