Source: CTD_human

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 3 0 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 3 0 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 1 0 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 0 0 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 3 0 2003 2006
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 1 0 1996 2018
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 2 0 2004 2012
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