GTF2I, general transcription factor IIi, 2969

N. diseases: 249; 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: C1266101
Disease: Thymic epithelial tumor
Thymic epithelial tumor 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 4 0.300 None 1.000 1 2014 2014
CUI: C1266091
Disease: Thymoma, type A
Thymoma, type A 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 5 0.010 None 1.000 1 2017 2017
CUI: C4024897
Disease: Atrophy/Degeneration involving the corticospinal tracts
Atrophy/Degeneration involving the corticospinal tracts 		phenotype Pathologic Function 8 0.100 None 0
CUI: C4022386
Disease: Overfriendliness
Overfriendliness 		phenotype Mental or Behavioral Dysfunction 9 0.100 None 0
CUI: C4025788
Disease: Nystagmus-induced head nodding
Nystagmus-induced head nodding 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 9 0.100 None 0
CUI: C4025898
Disease: Functional abnormality of male internal genitalia
Functional abnormality of male internal genitalia 		disease Anatomical Abnormality 9 0.100 None 0
CUI: C4023752
Disease: Abnormality of the diencephalon
Abnormality of the diencephalon 		phenotype Anatomical Abnormality 10 0.100 None 0
CUI: C0332606
Disease: Elfin facies
Elfin facies 		phenotype Sign or Symptom 11 0.100 None 0
CUI: C4025362
Disease: Abnormality of the gastric mucosa
Abnormality of the gastric mucosa 		disease Anatomical Abnormality 12 0.100 None 0
CUI: C0003477
Disease: Separation Anxiety Disorder
Separation Anxiety Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 13 2 0.010 None 1.000 1 2012 2012
CUI: C1096666
Disease: Thyroid cancer metastatic
Thyroid cancer metastatic 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 15 0.010 None 1.000 1 2018 2018
CUI: C0221209
Disease: Pelvic kidney
Pelvic kidney 		disease Congenital Abnormality 15 1 0.100 None 0
CUI: C0012811
Disease: Colon diverticulum anatomic structure
Colon diverticulum anatomic structure 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality 17 0.100 None 0
CUI: C0265886
Disease: Overriding aorta
Overriding aorta 		disease Respiratory Tract Diseases; Cardiovascular Diseases Congenital Abnormality 17 0.100 None 0
CUI: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles 		disease Anatomical Abnormality 17 1 0.100 None 0
CUI: C0156273
Disease: Bladder Diverticulum
Bladder Diverticulum 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality 18 0.100 None 0
CUI: C0751466
Disease: Phonophobia
Phonophobia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction 18 1 0.100 None 0
CUI: C0034880
Disease: Hyperacusis
Hyperacusis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 20 9 0.100 None 0
CUI: C0266298
Disease: Accessory kidney
Accessory kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 20 1 0.100 None 0
CUI: C0856748
Disease: Aneurysm of aortic arch
Aneurysm of aortic arch 		disease Cardiovascular Diseases Disease or Syndrome 20 0.100 None 0
CUI: C0151205
Disease: Periorbital edema
Periorbital edema 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 22 0.100 None 0
CUI: C0344529
Disease: Cornea plana
Cornea plana 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 22 2 0.100 None 0
CUI: C4553313
Disease: Periorbital Edema, CTCAE
Periorbital Edema, CTCAE 		phenotype Finding 22 0.100 None 0
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		disease Cardiovascular Diseases Disease or Syndrome 23 38 0.100 None 0
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		disease Cardiovascular Diseases Disease or Syndrome 23 3 0.100 None 0