TBX1, T-box 1, 6899

N. diseases: 287; N. variants: 5
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal Diseases Disease or Syndrome 37 3 1.000 0.977 49 2 1996 2017
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal Diseases Disease or Syndrome 73 3 0.900 1.000 75 1 1995 2017
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 27 11 0.620 1.000 2 1 2006 2016
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal Diseases Disease or Syndrome 23 7 0.610 1.000 4 1 2004 2006
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch
disease Congenital Abnormality 16 7 0.600 0 1
CONOTRUNCAL HEART MALFORMATIONS (disorder)
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 11 16 0.510 1.000 1 1 1995 1995
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.500 1.000 14 1 1997 2016
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 36 7 0.500 0 1
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 124 37 0.460 0.667 7 1995 2016
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 276 31 0.400 1.000 13 1996 2014
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal Diseases Disease or Syndrome 21 2 0.390 0.889 9 1997 2013
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.320 1.000 4 2005 2013
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis
disease Mental or Behavioral Dysfunction 219 60 0.320 1.000 3 2007 2011
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
group Mental Disorders Mental or Behavioral Dysfunction 316 113 0.320 1.000 3 2007 2011
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.320 1.000 2 2011 2012
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 335 91 0.320 0.500 2 2007 2007
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome
disease Disease or Syndrome 12 0.310 1.000 1 2002 2002
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Disease or Syndrome 165 0.300 1 2011 2011
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Disease or Syndrome 525 181 0.300 1 2011 2011
CUI: C1861129
Disease: Takao VCF Syndrome
Takao VCF Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal Diseases Disease or Syndrome 1 1 0.300 1 1 2004 2004
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome 15 0.300 0
Chromosome 22q11.2 Microduplication Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.300 0
CUI: C0029882
Disease: Otitis Media
Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 100 4 0.200 1 2005 2005
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.200 1 2012 2012
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 51 7 0.140 0.750 4 1997 2015