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: C0003910
Disease: Articulation Disorders
Articulation Disorders 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2000 2000
CUI: C1971810
Disease: Congenital cardiovascular disorder
Congenital cardiovascular disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 1 0.010 None 1.000 1 2014 2014
CUI: C2675369
Disease: Chromosome 22q11.2 Microduplication Syndrome
Chromosome 22q11.2 Microduplication Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 1 2009 2009
CUI: C3531771
Disease: Dextrotransposition of the great arteries
Dextrotransposition of the great arteries 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 1 0.010 None 1.000 1 2017 2017
CUI: C4016770
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME 		disease Finding 1 1 0.100 None 0 1
CUI: C0345065
Disease: Cervical aortic arch
Cervical aortic arch 		disease Congenital Abnormality 2 0.010 None 1.000 1 1997 1997
CUI: C3151189
Disease: C9 Deficiency
C9 Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 2 5 0.010 None 1.000 1 1999 1999
CUI: C4733128
Disease: familial chordoma
familial chordoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Neoplastic Process 2 0.010 None 1.000 1 2009 2009
CUI: C4744527
Disease: Temporal Lobe Pleomorphic Xanthoastrocytoma
Temporal Lobe Pleomorphic Xanthoastrocytoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2011 2011
CUI: C0152216
Disease: Esophoria
Esophoria 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.100 None 0
CUI: C1266175
Disease: Parachordoma
Parachordoma 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2012 2012
CUI: C0155336
Disease: Esotropia with accommodative compensation
Esotropia with accommodative compensation 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.100 None 0
CUI: C3150966
Disease: Supernumerary der(22)t(8;22) syndrome
Supernumerary der(22)t(8;22) syndrome 		disease Disease or Syndrome 4 0.030 None 1.000 3 1999 2002
CUI: C0221215
Disease: Common atrioventricular canal
Common atrioventricular canal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 4 2 0.010 None 1.000 1 2013 2013
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 4 6 0.010 None 1.000 1 1996 1996
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 11 0.010 None 1.000 1 1996 1996
CUI: C0729198
Disease: Decreased circulating parathyroid hormone level
Decreased circulating parathyroid hormone level 		phenotype Finding 4 0.100 None 0
CUI: C1321907
Disease: Congenital absence of parathyroid gland
Congenital absence of parathyroid gland 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 4 0.100 None 0
CUI: C1389851
Disease: Parathyroid hypoplasia
Parathyroid hypoplasia 		disease Congenital Abnormality 4 0.100 None 0
CUI: C1851897
Disease: Anterior creases of earlobe
Anterior creases of earlobe 		phenotype Finding 4 2 0.100 None 0
CUI: C0158629
Disease: Congenital anomaly of aortic arch
Congenital anomaly of aortic arch 		disease Respiratory Tract Diseases; Cardiovascular Diseases Congenital Abnormality 5 0.010 None 1.000 1 1999 1999
CUI: C0262650
Disease: Abnormality of the thymus
Abnormality of the thymus 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C1861141
Disease: Abnormality of the middle ear
Abnormality of the middle ear 		phenotype Finding 5 0.100 None 0
CUI: C4021592
Disease: Unilateral primary pulmonary dysgenesis
Unilateral primary pulmonary dysgenesis 		disease Disease or Syndrome 5 0.100 None 0
CUI: C1836929
Disease: Emanuel syndrome
Emanuel syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 6 0.030 None 1.000 3 1999 2002