TBX2, T-box transcription factor 2, 6909

N. diseases: 152; N. variants: 11
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: C4748741
Disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION 		disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2018 2018
CUI: C4021748
Disease: Abnormal B cell morphology
Abnormal B cell morphology 		disease Finding 1 0.100 None 0
CUI: C0271135
Disease: Ectopic pupil
Ectopic pupil 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.100 None 0 1
CUI: C1401781
Disease: Short uvula
Short uvula 		phenotype Finding 3 2 0.100 None 0 1
CUI: C0428279
Disease: Finding of creatinine level
Finding of creatinine level 		phenotype Finding 5 5 0.100 None 1.000 1 1 2010 2010
CUI: C3272931
Disease: Fibroblast Growth Factor 23 Measurement
Fibroblast Growth Factor 23 Measurement 		phenotype Laboratory Procedure 6 13 0.100 None 1.000 1 1 2018 2018
CUI: C0685894
Disease: Congenital absence of thymus
Congenital absence of thymus 		disease Immune System Diseases Congenital Abnormality 6 2 0.100 None 0 1
CUI: C1854408
Disease: Glabellar hemangioma
Glabellar hemangioma 		disease Neoplasms Neoplastic Process 6 4 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: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 12 5 0.100 None 0 1
CUI: C4022143
Disease: Unilateral cleft palate
Unilateral cleft palate 		disease Congenital Abnormality 12 1 0.100 None 0 1
CUI: C0392006
Disease: Unilateral cleft lip
Unilateral cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 14 1 0.100 None 0 1
CUI: C1271219
Disease: Congenital ectopic pupil
Congenital ectopic pupil 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Congenital Abnormality 14 0.100 None 0
CUI: C0201952
Disease: Chloride measurement
Chloride measurement 		phenotype Laboratory Procedure 16 19 0.100 None 1.000 1 1 2018 2018
CUI: C0202194
Disease: Potassium measurement
Potassium measurement 		phenotype Laboratory Procedure 16 28 0.100 None 1.000 1 1 2018 2018
CUI: C1849221
Disease: Fair hair
Fair hair 		phenotype Finding 17 5 0.100 None 0 1
CUI: C0032915
Disease: Preexcitation Syndrome
Preexcitation Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 20 2 0.010 None 1.000 1 2011 2011
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 2 0.010 None 1.000 1 2011 2011
CUI: C0684686
Disease: Secondary malignant neoplasm of soft tissues
Secondary malignant neoplasm of soft tissues 		group Neoplasms Neoplastic Process 22 0.010 None 1.000 1 2017 2017
CUI: C1848641
Disease: Profound sensorineural hearing loss
Profound sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 22 4 0.010 None 1.000 1 2011 2011
CUI: C1853638
Disease: Broad neck
Broad neck 		phenotype Finding 22 10 0.100 None 0 1
CUI: C1859717
Disease: Depressed nasal tip
Depressed nasal tip 		phenotype Finding 23 3 0.100 None 0 1
CUI: C0152438
Disease: Sprengel deformity
Sprengel deformity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 29 4 0.100 None 0 1
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 0 1
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		phenotype Finding 32 4 0.100 None 0 1