TBX22, T-box transcription factor 22, 50945

N. diseases: 72; N. variants: 8
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: C2959886
Disease: Cardiopulmonary Exercise Test
Cardiopulmonary Exercise Test 		phenotype Diagnostic Procedure 1 0.300 strong 1.000 1 2013 2013
CUI: C4283786
Disease: Residue on Palate
Residue on Palate 		phenotype Finding 1 0.300 strong 1.000 1 2013 2013
CUI: C4707825
Disease: X-linked cleft palate and ankyloglossia
X-linked cleft palate and ankyloglossia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 2 0.540 None 1.000 7 2001 2011
CUI: C1844862
Disease: Abruzzo Erickson syndrome
Abruzzo Erickson syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 1 0.710 None 1.000 1 1 2013 2013
CUI: C1844831
Disease: Cleft Palate with Ankyloglossia
Cleft Palate with Ankyloglossia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 4 5 0.150 None 1.000 5 5 2001 2013
CUI: C1394030
Disease: Coronal hypospadias
Coronal hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 4 0.100 None 0
CUI: C0013911
Disease: Emaciation
Emaciation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 6 0.010 None 1.000 1 2017 2017
CUI: C1387925
Disease: Abnormality of limbs
Abnormality of limbs 		phenotype Anatomical Abnormality 8 1 0.010 None 1.000 1 2012 2012
CUI: C1844830
Disease: CLEFT PALATE, X-LINKED
CLEFT PALATE, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 9 4 0.900 None 0.929 14 4 2001 2018
CUI: C4551487
Disease: Submucous cleft palate
Submucous cleft palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 13 1 0.020 None 1.000 2 2009 2013
CUI: C4317152
Disease: Dimple chin
Dimple chin 		phenotype Anatomical Abnormality 16 2 0.100 None 0
CUI: C0152415
Disease: Ankyloglossia
Ankyloglossia 		disease Stomatognathic Diseases Congenital Abnormality 19 2 0.200 None 0.917 12 2002 2018
CUI: C2825139
Disease: Acute Myeloid Leukemia with Myelodysplasia-Related Changes
Acute Myeloid Leukemia with Myelodysplasia-Related Changes 		disease Neoplasms Neoplastic Process 23 0.080 None 1.000 8 2018 2020
CUI: C0231679
Disease: Ulnar deviation of the fingers
Ulnar deviation of the fingers 		phenotype Finding 31 0.100 None 0
CUI: C0221106
Disease: Alkalemia
Alkalemia 		disease Disease or Syndrome 38 0.010 None 1.000 1 2018 2018
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		disease Anatomical Abnormality 40 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe 		phenotype Finding 56 3 0.100 None 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 57 2 0.100 None 0
CUI: C4528668
Disease: Acute myeloid leukaemia refractory
Acute myeloid leukaemia refractory 		disease Neoplasms Neoplastic Process 58 0.020 None 1.000 2 2018 2018
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 58 3 0.100 None 0
CUI: C1336735
Disease: Treatment related acute myeloid leukaemia
Treatment related acute myeloid leukaemia 		disease Neoplastic Process 65 4 0.030 None 1.000 3 2019 2019
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 67 0.400 limited 1.000 1 2013 2013
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype Anatomical Abnormality 78 37 0.010 None 1.000 1 2011 2011
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 80 16 0.010 None 1.000 1 2015 2015
CUI: C1853241
Disease: Flat face
Flat face 		phenotype Finding 83 7 0.100 None 0