TBC1D7, TBC1 domain family member 7, 51256

N. diseases: 26; N. variants: 7
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
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
CUI: C3806412
Disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE 		0.400 Biomarker disease GENOMICS_ENGLAND TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease. 24515783 2014
CUI: C3806412
Disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE 		0.400 Biomarker disease GENOMICS_ENGLAND Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. 23687350 2013
CUI: C3806412
Disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE 		0.400 CausalMutation disease CLINVAR
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide linkage and association scans for pulse pressure in Chinese twins. 22763476 2012
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.100 GeneticVariation phenotype GWASDB Genome-wide linkage and association scans for pulse pressure in Chinese twins. 22763476 2012
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.100 Biomarker disease HPO
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 Biomarker disease HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.100 Biomarker phenotype HPO
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 Biomarker phenotype HPO
CUI: C1849089
Disease: Broad forehead
Broad forehead 		0.100 Biomarker phenotype HPO