TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 Biomarker disease BEFREE We have previously shown that Tbx1 heterozygous mice have reduced prepulse inhibition, a behavioral abnormality that is associated with 22q11.2DS and nonsyndromic schizophrenia. 27005988 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 Biomarker disease PSYGENET Velocardiofacial (VCFS; 22q11.2 deletion) syndrome is a genetic disorder that results from a hemizygous deletion of the q11.2 region on chromosome 22, and is associated with greatly increased risk for psychiatric disorders, including autism spectrum disorder (ASD) and schizophrenia. 25325218 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease BEFREE Velocardiofacial (VCFS; 22q11.2 deletion) syndrome is a genetic disorder that results from a hemizygous deletion of the q11.2 region on chromosome 22, and is associated with greatly increased risk for psychiatric disorders, including autism spectrum disorder (ASD) and schizophrenia. 25325218 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease BEFREE Deletions at 1q21.1, 3q29, 15q11.2, 15q13.1 and 22q11.2 (VCFS region), and duplications at 16p11.2 were found significantly more often in schizophrenia cases, compared with the WTCCC reference set. 22130109 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 Biomarker disease PSYGENET Deletions at 1q21.1, 3q29, 15q11.2, 15q13.1 and 22q11.2 (VCFS region), and duplications at 16p11.2 were found significantly more often in schizophrenia cases, compared with the WTCCC reference set. 22130109 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 Biomarker disease PSYGENET Mapping cortical morphology in youth with velocardiofacial (22q11.2 deletion) syndrome. 21334567 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease BEFREE Using iPSCs derived from three schizophrenia (SZ) patients, one of whom has 22q11.2del (velocardiofacial syndrome; VCFS), the authors developed a culture system to study SZ on a molecular and cellular level. 21797804 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 Biomarker disease PSYGENET Using iPSCs derived from three schizophrenia (SZ) patients, one of whom has 22q11.2del (velocardiofacial syndrome; VCFS), the authors developed a culture system to study SZ on a molecular and cellular level. 21797804 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 Biomarker disease PSYGENET First, we found evidence for a male-specific genotypic association (P = 0.00017) TBX1/GNB1L in 662 schizophrenia cases and 1416 controls from the UK. 18003636 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease BEFREE In mice, hemizygous deletion of either Tbx1 or Gnb1l can cause deficits in pre-pulse inhibition, a sensory motor gating defect which is associated with schizophrenia. 18003636 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease BEFREE Our data suggest that the genetic polymorphisms within TBX1 do not confer an increased susceptibility to schizophrenia in the Chinese population. 17850965 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 Biomarker disease LHGDN Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. 16684884 2006
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 Biomarker disease BEFREE We evaluated the Nogo-66 receptor gene (RTN4R), which maps within the DGS/VCFS critical region, as a potential candidate for schizophrenia susceptibility. 15532024 2004
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease BEFREE We evaluated the PCQAP gene, which maps within the DGS/VCFS interval, as a potential candidate for schizophrenia susceptibility. 12497610 2003
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease BEFREE In a complementary approach we also attempted to define the location of a schizophrenia susceptibility locus more precisely by performing association mapping using seven microsatellites spanning the VCFS region with an average inter-marker distance of 450 kb. 12476324 2002
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease BEFREE We evaluated the UFD1L gene, mapping within the DGS/VCFS region, as a potential candidate for schizophrenia susceptibility. 11496370 2001
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease BEFREE Mapping of the human adenosine A2a receptor gene: relationship to potential schizophrenia loci on chromosome 22q and exclusion from the CATCH 22 region. 9050917 1997
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 Biomarker disease HPO