TBC1D7, TBC1 domain family member 7, 51256

N. diseases: 26; N. variants: 7
Disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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