Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
disease 1.000 None 0.988 80 2 1995 2019
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease 1.000 None 0.960 50 2 1996 2019
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease 0.790 limited 0.800 10 1 1995 2019
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CONOTRUNCAL HEART MALFORMATIONS (disorder)
disease 0.610 moderate 1.000 1 1 1995 1995
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME
disease 0.510 None 1.000 4 0 2003 2006
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease 0.500 None 1.000 14 1 1997 2017
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease 0.470 moderate 1.000 7 0 2001 2018
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group 0.400 None 1.000 13 0 1996 2018
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease 0.390 None 1.000 10 0 1997 2012
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.320 None 1.000 4 0 2004 2012
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.320 None 1.000 2 0 2011 2012
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis
disease 0.310 None 1.000 3 0 2007 2011
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
group 0.310 None 1.000 3 0 2007 2011
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome
disease 0.310 None 1.000 2 0 2002 2003
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group 0.310 None 0.500 2 0 2007 2007
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
disease 0.300 moderate 1.000 1 0 2001 2001
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries
disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association
disease 0.300 None 1.000 1 0 2003 2003
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
Chromosome 22q11.2 Microduplication Syndrome
disease 0.300 None 1.000 1 0 2009 2009
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease 0.220 None 1.000 2 0 2011 2014
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
disease 0.200 None 1.000 13 0 1991 2018
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0029882
Disease: Otitis Media
Otitis Media
disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
phenotype 0.140 None 1.000 4 0 1997 2014
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group 0.140 None 1.000 4 0 2012 2018