Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51256
Gene Symbol: TBC1D7
TBC1D7
0.620 GeneticVariation disease BEFREE Mutations in TBC1D7 were reported in a family with intellectual disability (ID) and macrocrania. 24515783 2014
Entrez Id: 51256
Gene Symbol: TBC1D7
TBC1D7
0.620 Biomarker disease GENOMICS_ENGLAND Mutations in TBC1D7 were reported in a family with intellectual disability (ID) and macrocrania. 24515783 2014
Entrez Id: 51256
Gene Symbol: TBC1D7
TBC1D7
0.620 Biomarker disease BEFREE Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. 23687350 2013
Entrez Id: 51256
Gene Symbol: TBC1D7
TBC1D7
0.620 GermlineCausalMutation disease ORPHANET Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. 23687350 2013
Entrez Id: 51256
Gene Symbol: TBC1D7
TBC1D7
0.620 Biomarker disease HPO