TBC1D7, TBC1 domain family member 7, 51256

N. diseases: 26; N. variants: 7
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 		0.430 PosttranslationalModification group BEFREE TBC1D7 mutations have not been reported in TSC patients but homozygous inactivation of TBC1D7 causes megaencephaly and intellectual disability. 24714658 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation group BEFREE Mutations in TBC1D7 were reported in a family with intellectual disability (ID) and macrocrania. 24515783 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group GENOMICS_ENGLAND Mutations in TBC1D7 were reported in a family with intellectual disability (ID) and macrocrania. 24515783 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group BEFREE Our study suggests that disruption of TBC1D7 causes ID but without the other typical features found in TSC. 23687350 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group HPO