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: C1862083
Disease: Short 4th toe
Short 4th toe 		phenotype Congenital Abnormality 1 0.100 None 0
CUI: C1867000
Disease: Hypoplastic/absent/deformed radius
Hypoplastic/absent/deformed radius 		phenotype Finding 1 0.300 strong 0
CUI: C1867003
Disease: Axillary apocrine gland hypoplasia
Axillary apocrine gland hypoplasia 		phenotype Finding 1 0.100 None 0
CUI: C4021111
Disease: Short 5th toe
Short 5th toe 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025467
Disease: Deformed radius
Deformed radius 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C0152436
Disease: Hymen, Imperforate
Hymen, Imperforate 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 3 0.100 None 0
CUI: C1442978
Disease: Hernia of abdominal wall
Hernia of abdominal wall 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 0.100 None 0
CUI: C2678397
Disease: Aplasia of the ulna
Aplasia of the ulna 		phenotype Congenital Abnormality 4 0.100 None 0
CUI: C0948364
Disease: Periprosthetic osteolysis
Periprosthetic osteolysis 		phenotype Musculoskeletal Diseases Pathologic Function 5 6 0.100 None 1.000 1 1 2019 2019
CUI: C4024213
Disease: Aplasia of the pectoralis major muscle
Aplasia of the pectoralis major muscle 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C4025675
Disease: Abnormality of the radius
Abnormality of the radius 		disease Anatomical Abnormality 5 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: C0019296
Disease: Inguinal Hernia, Indirect
Inguinal Hernia, Indirect 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 2 0.010 None 1.000 1 2015 2015
CUI: C1859392
Disease: Absent axillary hair
Absent axillary hair 		phenotype Finding 7 1 0.100 None 0
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 4 1.000 None 1.000 36 4 1997 2020
CUI: C0524730
Disease: Odontome
Odontome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 10 0.300 None 1.000 1 1997 1997
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: C0266009
Disease: Congenital absence of breast
Congenital absence of breast 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 15 0.100 None 0
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		phenotype Finding 16 2 0.100 None 0
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality 17 2 0.100 None 0
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 18 0.100 None 0
CUI: C0426868
Disease: Absence of hand
Absence of hand 		phenotype Finding 18 0.100 None 0
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae 		phenotype Finding 18 0.100 None 0
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		phenotype Finding 18 1 0.100 None 0