TBX4, T-box transcription factor 4, 9496

N. diseases: 127; N. variants: 12
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: C1152136
Disease: sucrose-phosphate synthase activity
sucrose-phosphate synthase activity 		phenotype Molecular Function 1 0.300 strong 1.000 1 2016 2016
CUI: C1868581
Disease: Patella aplasia, coxa vara, tarsal synostosis
Patella aplasia, coxa vara, tarsal synostosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 None 1.000 1 2004 2004
CUI: C3150607
Disease: CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME
CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME 		disease Disease or Syndrome 1 0.300 None 1.000 1 2011 2011
CUI: C3150880
Disease: CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME
CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME 		disease Disease or Syndrome 1 0.300 None 1.000 1 2010 2010
CUI: C1840062
Disease: Hypoplasia of the lesser trochanter
Hypoplasia of the lesser trochanter 		phenotype Finding 1 0.100 None 0
CUI: C4024622
Disease: Wide capital femoral epiphyses
Wide capital femoral epiphyses 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025155
Disease: Talocalcaneal synostosis
Talocalcaneal synostosis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 1 0.100 None 0
CUI: C0002447
Disease: Amelia
Amelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 0.010 None 1.000 1 2019 2019
CUI: C3872820
Disease: Congenital pulmonary acinar dysplasia
Congenital pulmonary acinar dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1860826
Disease: Coxa Magna
Coxa Magna 		disease Musculoskeletal Diseases Disease or Syndrome 2 0.100 None 0
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 3 10 0.010 None 1.000 1 2006 2006
CUI: C3697119
Disease: Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease 		disease Disease or Syndrome 5 11 0.100 None 1.000 1 3 2018 2018
CUI: C1840068
Disease: Patellar hypoplasia
Patellar hypoplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 5 1 0.100 None 0
CUI: C0521648
Disease: Neonatal respiratory failure
Neonatal respiratory failure 		disease Respiratory Tract Diseases Disease or Syndrome 8 0.010 None 1.000 1 2019 2019
CUI: C3887658
Disease: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 8 3 0.010 None 1.000 1 2016 2016
CUI: C1854910
Disease: Shallow acetabular fossae
Shallow acetabular fossae 		phenotype Finding 8 0.100 None 0
CUI: C0221363
Disease: Bifid nose
Bifid nose 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 9 0.100 None 0
CUI: C1696701
Disease: Skin-picking
Skin-picking 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 10 2 0.010 None 1.000 1 2017 2017
CUI: C1842155
Disease: Flat capital femoral epiphysis
Flat capital femoral epiphysis 		phenotype Finding 11 0.100 None 0
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease Disease or Syndrome 12 1 0.300 None 1.000 2 2013 2013
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype Molecular Function 14 0.300 strong 1.000 1 2016 2016
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 17 3 0.100 None 0
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum 		phenotype Congenital Abnormality 19 2 0.100 None 0
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 20 1 0.100 None 0
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		disease Musculoskeletal Diseases Disease or Syndrome 21 15 0.750 None 1.000 6 5 2004 2019