TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
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: C0265291
Disease: Kenny-Caffey syndrome
Kenny-Caffey syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 0.010 None 1.000 1 1998 1998
CUI: C1837341
Disease: Transposition of the Great Arteries, Dextro-Looped 1
Transposition of the Great Arteries, Dextro-Looped 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 6 12 0.010 None 1.000 1 2017 2017
CUI: C4023796
Disease: Aplasia/Hypoplasia of the thymus
Aplasia/Hypoplasia of the thymus 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C0019296
Disease: Inguinal Hernia, Indirect
Inguinal Hernia, Indirect 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 2 0.010 None 1.000 1 2014 2014
CUI: C4025695
Disease: Right aortic arch with mirror image branching
Right aortic arch with mirror image branching 		disease Anatomical Abnormality 7 0.100 None 0
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 4 0.020 None 1.000 2 2002 2013
CUI: C0013447
Disease: Ear Diseases
Ear Diseases 		group Otorhinolaryngologic Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2001 2001
CUI: C1859101
Disease: Vertebral chordoma
Vertebral chordoma 		disease Neoplasms Neoplastic Process 9 1 0.010 None 1.000 1 2017 2017
CUI: C4024912
Disease: Occipital myelomeningocele
Occipital myelomeningocele 		disease Disease or Syndrome 9 0.100 None 0
CUI: C0392485
Disease: Congenital diverticulum of pharynx
Congenital diverticulum of pharynx 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 10 0.010 None 1.000 1 2019 2019
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 11 17 0.010 None 1.000 1 1992 1992
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease Disease or Syndrome 12 0.310 None 1.000 2 2002 2003
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 12 1 0.010 None 1.000 1 2014 2014
CUI: C4021161
Disease: Multiple suture craniosynostosis
Multiple suture craniosynostosis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 12 1 0.100 None 0
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils 		disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C0013743
Disease: Eisenmenger Complex
Eisenmenger Complex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 0.010 None 1.000 1 2018 2018
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 22 0.610 moderate 1.000 1 1 1995 1995
CUI: C4075603
Disease: Occult chronic type B viral hepatitis
Occult chronic type B viral hepatitis 		disease Digestive System Diseases; Infections Disease or Syndrome 13 4 0.010 None 1.000 1 2017 2017
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 13 1 0.100 None 0
CUI: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		disease Finding 13 1 0.100 None 0
CUI: C2697758
Disease: Interleukin 10 Measurement
Interleukin 10 Measurement 		phenotype Laboratory Procedure 14 24 0.100 None 1.000 1 1 2012 2012
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 15 1 0.010 None 1.000 1 2014 2014
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		disease Disease or Syndrome 15 3 0.010 None 1.000 1 2018 2018
CUI: C1335975
Disease: Skull Base Chordoma
Skull Base Chordoma 		disease Neoplasms Neoplastic Process 17 1 0.030 None 0.667 3 2013 2019
CUI: C1561921
Disease: Non-ST elevation (NSTEMI) myocardial infarction
Non-ST elevation (NSTEMI) myocardial infarction 		disease Disease or Syndrome 17 0.010 None 1.000 1 2018 2018