TBX3, T-box transcription factor 3, 6926

N. diseases: 179; 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: C0266383
Disease: Uterine Anomalies
Uterine Anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 35 1 0.100 None 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 0
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 37 5 0.100 None 0
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		disease Skin and Connective Tissue Diseases Anatomical Abnormality 27 7 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype Finding 168 7 0.100 None 0
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 0.100 None 0
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 138 26 0.100 None 0
CUI: C0152438
Disease: Sprengel deformity
Sprengel deformity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 29 4 0.100 None 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		phenotype Finding 42 1 0.100 None 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C1865571
Disease: Aplasia/Hypoplasia of the ulna
Aplasia/Hypoplasia of the ulna 		phenotype Congenital Abnormality 6 0.100 None 0
CUI: C4025675
Disease: Abnormality of the radius
Abnormality of the radius 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C2678397
Disease: Aplasia of the ulna
Aplasia of the ulna 		phenotype Congenital Abnormality 4 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		phenotype Finding 16 2 0.100 None 0
CUI: C4021742
Disease: Abnormality of the humerus
Abnormality of the humerus 		disease Anatomical Abnormality 10 2 0.100 None 0
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease Musculoskeletal Diseases Anatomical Abnormality 40 3 0.100 None 0
CUI: C1867000
Disease: Hypoplastic/absent/deformed radius
Hypoplastic/absent/deformed radius 		phenotype Finding 1 0.300 strong 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		disease Anatomical Abnormality 42 0.100 None 0
CUI: C4024213
Disease: Aplasia of the pectoralis major muscle
Aplasia of the pectoralis major muscle 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C4025467
Disease: Deformed radius
Deformed radius 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		phenotype Finding 34 0.300 strong 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		phenotype Finding 27 0.100 None 0