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: 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
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 30 2 0.500 strong 1.000 3 2013 2016
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.460 strong 1.000 7 2013 2020
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.420 strong 1.000 3 2013 2016
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 34 9 0.320 strong 1.000 3 2016 2019
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: C1152136
Disease: sucrose-phosphate synthase activity
sucrose-phosphate synthase activity 		phenotype Molecular Function 1 0.300 strong 1.000 1 2016 2016
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: 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: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 161 5 0.300 strong 1.000 1 2016 2016
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 285 44 0.150 None 1.000 5 2010 2018
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: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.100 None 1.000 1 1 2015 2015
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		phenotype Organism Function 131 1106 0.100 None 1.000 1 1 2015 2015
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		phenotype Finding 42 1 0.100 None 0
CUI: C1840062
Disease: Hypoplasia of the lesser trochanter
Hypoplasia of the lesser trochanter 		phenotype Finding 1 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 163 6 0.100 None 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 31 3 0.100 None 0
CUI: C0345375
Disease: Congenital hypoplasia of femur
Congenital hypoplasia of femur 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 22 3 0.100 None 0