TBX1 - T-box transcription factor 1 Gene

Also Known as DGS; TGA; VCF; CAFS; CTHM; DGCR; DORV; VCFS; TBX1C; CATCH22

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6899

About TBX1

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,756,703-19,783,593 (from NCBI)

This gene has 8 transcripts (splice variants), 213 orthologues, 16 paralogues and is associated with 8 phenotypes. Biased expression in testis (RPKM 1.4), prostate (RPKM 1.1) and 13 other tissues.

Summary

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

TBX1 Products (4)

mRNA Protein Name
NM_001379200.1 NP_001366129.1 T-box transcription factor TBX1 isoform D
NM_005992.1 NP_005983.1 T-box transcription factor TBX1 isoform B
NM_080646.2 NP_542377.1 T-box transcription factor TBX1 isoform A
NM_080647.1 NP_542378.1 T-box transcription factor TBX1 isoform C
Molecular Function GO Annotation Evidence Referencias Source
enables DNA binding IDA
IDA: Inferred from direct assay
17273972 GOA
NOT enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
11111039 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
30241482 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
11111039 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
11111039 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence Referencias Source
involved in embryonic viscerocranium morphogenesis IMP
IMP: Inferred from mutant phenotype
14585638 GOA
involved in heart development IMP
IMP: Inferred from mutant phenotype
14585638 GOA
involved in parathyroid gland development IMP
IMP: Inferred from mutant phenotype
14585638 GOA
involved in pharyngeal system development IMP
IMP: Inferred from mutant phenotype
14585638 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
17273972 GOA
involved in soft palate development IMP
IMP: Inferred from mutant phenotype
14585638 GOA
involved in thymus development IMP
IMP: Inferred from mutant phenotype
14585638 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TBX1 Protein Structure

T-box

T-box: T-box (112 - 297)

  • 0
  • 100
  • 200
  • 300
  • 398 a.a.
Protein Preferred Names Protein Names

T-box transcription factor TBX1

  • T-box 1 transcription factor C

Related Diseases

Diseases Alias
Velocardiofacial Syndrome
  • Shprintzen Syndrome

  • VCFS

  • Chromosome 22q11.2 Deletion Syndrome

  • Vcf Syndrome

  • Shprintzen Vcf Syndrome

  • Vcf-Velocardiofacial Syndrome

  • Velo-Cardio-Facial Syndrome

  • Digeorge Syndrome

  • 22q11 Deletion Syndrome

  • Conotruncal Anomaly Face Syndrome

Digeorge Syndrome
  • Chromosome 22q11.2 Deletion Syndrome

  • DGS

  • Hypoplasia Of Thymus And Parathyroids

  • Third And Fourth Pharyngeal Pouch Syndrome

  • 22q11.2 Deletion Syndrome

  • Digeorge Sequence

  • Digeorge'S Syndrome

  • Pharyngeal Pouch Syndrome

  • Di-George Syndrome

  • Shprintzen Syndrome

Chromosome 22q11.2 Deletion Syndrome, Distal
  • 22q11.2 Deletion Syndrome

  • Autosomal Dominant Opitz G/Bbb Syndrome

  • Catch22

  • Cayler Cardiofacial Syndrome

  • Conotruncal Anomaly Face Syndrome

  • Digeorge Syndrome

  • Sedlackova Syndrome

  • Shprintzen Syndrome

  • Velocardiofacial Syndrome

  • 22q11.2 Distal Deletion Syndrome

  • Distal 22q11.2 Microdeletion Syndrome

  • 22q11.2ds

  • Vcfs

  • Velo-Cardio-Facial Syndrome

  • Distal Chromosome 22q11.2 Deletion Syndrome

  • Chromosome 22q11.2 Deletion Syndrome Distal

  • Chromosome 22q11.2 Deletion Syndrome

  • Deletion 22q11.2 Syndrome

  • 22q11ds

  • Catch 22

  • Digeorge Sequence

  • Microdeletion 22q11.2

  • Monosomy 22q11

  • Takao Syndrome

  • Distal Del(22)(Q11.2)

  • Distal Monosomy 22q11.2

  • Catch 22 Syndrome

  • Chromosome Deletion Syndrome 22q11.2, Distal

Conotruncal Heart Malformations
  • Persistent Truncus Arteriosus

  • Conotruncal Anomaly Face Syndrome

  • Truncus Arteriosus

  • Common Arterial Trunk

  • CTHM

  • Conotruncal Heart Malformations, Variable

  • Tac

  • Truncus Arteriosus Communis

  • Conotruncal Cardiac Defects

  • Common Aorticopulmonary Trunk

  • Cafs

  • Conotruncal Heart Defects

  • Cthd

  • Dorv

  • Double-Outlet Right Ventricle

  • Pta

  • Heart Malformations, Conotruncal

  • Common Truncus

  • Common Truncus Arteriosus

  • Persistent Truncus Arteriosus Or Communis

  • Truncus Communis

  • Common Aortico-Pulmonary Trunk

  • Truncus Arteriosus With Aortic Dominance

  • Truncus Arteriosus With No Aortic Obstruction

  • Truncus Arteriosus With Pulmonary Dominance And Interrupted Aortic Arch

  • Truncus Arteriosus With Interrupted Aortic Arch

  • Common Arterial Trunk With Interrupted Aortic Arch

  • Van Praagh Truncus Arteriosus Type A4

Tetralogy Of Fallot
  • TOF

  • Fallot Tetralogy

  • Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

  • Tetrad Of Fallot

  • Fallot Tetrad

  • Fallot Disease

  • Fallot Complex

  • Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

  • Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

  • Interventricular Septal Defect, In Tetralogy Of Fallot

  • Ventricular Septal Defect With Obstructed Right Ventricular Outflow

  • Tof - [Tetralogy Of Fallot]

  • Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

  • Pulmonary Atresia, Ventricular Septal Defect And Mapcas

  • Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

T-Cell Immunodeficiency With Thymic Aplasia
  • Nezelof Syndrome

  • T-Lymphocyte Deficiency

  • TIDTA

  • Immune Defect Due To Absence Of Thymus

  • Thymic Aplasia

  • Nezelof'S Syndrome

  • Thymic Dysplasia With Normal Immunoglobulins

  • Thymic Aplasia Syndrome

  • T-Lymphocyte Immunodeficiency

Kbg Syndrome
  • KBGS

  • Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

  • Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies

  • Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

  • Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

  • Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Chromosome 22q11.2 Duplication Syndrome
  • Chromosome 22q11.2 Microduplication Syndrome

  • 22q11.2 Microduplication Syndrome

  • 22q11.2 Duplication Syndrome

  • Duplication 22q11.2

  • Trisomy 22q11.2

  • 22q11.2 Duplication

  • Dup(22)(Q11)

Holt-Oram Syndrome
  • HOS

  • Atriodigital Dysplasia

  • Heart-Hand Syndrome

  • Atrio-Digital Syndrome

  • Cardiac-Limb Syndrome

  • Heart-Hand Syndrome, Type 1

  • Ventriculo-Radial Syndrome

  • Hos1

  • Heart Hand Syndrome

  • Atrio Digital Syndrome

  • Hos 1

  • Atriodigital Dysplasia Type 1

  • Heart-Hand Syndrome Type 1

  • Holt Oram Syndrome

Ulnar-Mammary Syndrome
  • Schinzel Syndrome

  • UMS

  • Pallister Ulnar-Mammary Syndrome

  • Ulnar-Mammary Syndrome Of Pallister

Double Outlet Right Ventricle
  • Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect

  • Taussig-Bing Syndrome

  • Dextrotransposition Of Aorta

  • Taussig-Bing Syndrome Or Defect

  • Dorv

  • Dorv With Subpulmonary Vsd

  • Dorv-Tga

  • Double Outlet Right Ventricle With Transposition Of The Great Arteries

  • Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type

  • Taussig-Bing Heart

  • Taussig-Bing Malformation

  • Taussig-Bing Complex

  • Taussig-Bing Defect

  • Taussig-Bing

  • Double Outlet Right Ventricle With Remote Ventricular Septal Defect

  • Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect

  • Double Outlet Right Ventricle With Non-Committed Interventricular Communication

  • Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis

  • Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis

Hypoparathyroidism
  • Hypoparathyroidism, Idiopathic

  • Parathyroid, Underactivity Of

  • Syndrome With Hypoparathyroidism

  • Deficiency Of Parathyroid Hormone

  • Parathyroid Gland Insufficiency

  • Parathyroid Insufficiency

  • Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion

Chromosomal Deletion Syndrome
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
  • VETD

  • Heterozygotes For Tbx2 Variants

Thymic Dysplasia
Heart Septal Defect
  • Septal Defect

  • Heart Septal Defects

  • Cardiac Septal Defects

  • Congenital Septal Defect Of Heart

Heart Disease
  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Heart Malformation

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure

Tricuspid Atresia
  • Congenital Agenesis Of The Tricuspid Valve

Cleft Palate, Isolated
  • Cleft Palate

  • Isolated Cleft Palate

  • CPI

  • Cp

  • Palatoschisis

  • Cleft Palate Isolated

  • Uranostaphyloschisis

  • Congenital Fissure Of Palate

  • Cleft Of Secondary Palate

Atrioventricular Septal Defect
  • AVSD

  • Atrioventricular Canal Defect

  • Avcd

  • Endocardial Cushion Defect

  • Ecd

  • Avc Defect

  • Atrioventricular Septal Defect, Susceptibility To, 1

  • Atrioventricular Septal Defect 1

  • Endocardial Cushion Defects

  • Septal Defect, Atrioventricular

  • Atrioventricular Defect With Atrial Shunting Only

  • Incomplete Atrioventricular Septal Defect With Isolated Atrial Component

  • Incomplete Atrioventricular Canal Defect With Isolated Atrial Component

  • Primum Atrial Septal Defect

  • Partial Atrioventricular Canal Defect With Isolated Atrial Component

  • Partial Atrioventricular Septal Defect, Ostium Primum Type

  • Ostium Primum Atrial Septal Defect

  • Partial Atrioventricular Canal Defect

  • Partial Atrioventricular Septal Defect

  • Atrial Septum Primum Defect

  • Atrioventricular Canal Defect With Isolated Ventricular Component

  • Atrioventricular Canal Defect With Isolated Ventricular Communication

  • Atrioventricular Septal Defect With Isolated Ventricular Component

  • Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting

  • Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve

  • Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves

  • Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect

  • Intermediate Atrioventricular Canal Defect

  • Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices

  • Intermediate Atrioventricular Septal Defect

  • Transitional Atrioventricular Canal Defect

  • Transitional Atrioventricular Septal Defect

  • Complete Atrioventricular Canal With Atrial And Ventricular Components

  • Complete Atrioventricular Canal Defect

  • Complete Atrioventricular Septal Defect

Chromosomal Disease
  • Chromosomal Disorders

  • Congenital Chromosomal Disease

Ankyloglossia With Or Without Tooth Anomalies
  • Ankyloglossia

  • ANKG

  • 'Tongue-Tie'

  • Tongue-Tie

  • Tongue Tie

  • Aberrant Insertion Of Labial Frenulum

  • Aberrant Insertion Of Frenum Of Tongue

  • Short Frenulum Linguae

  • Short Frenulum Of Tongue

Atrial Heart Septal Defect
  • Atrial Septal Defect

  • Atrial Septal Defects

  • Atrioseptal Defect

  • Auricular Septal Defect

  • Congenital Atrial Septal Defect

  • Interatrial Septal Defect

  • Interauricular Septal Defect

  • Heart Septal Defects, Atrial

  • Septal Defect, Atrial

Patent Ductus Arteriosus 1
  • Patent Ductus Arteriosus

  • PDA1

  • Pda

  • Ductus Arteriosus, Patent

  • Patent Ductus Arteriosus, Susceptibility To

  • Patent Ductus Botalli

  • Patency Of The Ductus Arteriosus

  • Patent Ductus Arteriosus Familial

  • Ductus Arteriosus Patent

  • Patent Ductus Arteriosus - Persisting Type

Ichthyosis, Congenital, Autosomal Recessive 9
  • Autosomal Recessive Congenital Ichthyosis 9

  • ARCI9

  • Ichthyosis, Congenital, Autosomal Recessive, Type 9

Craniofacial Microsomia
  • Goldenhar Syndrome

  • Hemifacial Microsomia

  • Oculoauriculovertebral Spectrum

  • Oavs

  • Oculo-Auriculo-Vertebral Spectrum

  • CFM

  • Oav Dysplasia

  • Facioauriculovertebral Sequence

  • Fav Sequence

  • First And Second Branchial Arch Syndrome

  • Otomandibular Dysostosis

  • Hfm

  • Oculoauriculovertebral Dysplasia

  • Facio-Auriculo-Vertebral Spectrum

  • Facioauriculovertebral Dysplasia

  • Oculo-Auriculo-Vertebral Dysplasia

  • First Arch Syndrome

  • Oav Dysplasia

  • Goldenhar Disease

  • Expanded Spectrum Hemifacial Microsomia

  • Expanded Spectrum Of Hemifacial Microsomia

  • Oculoauriculovertebral Syndrome

  • Oavd

  • Asymmetric Hypoplasia Of Facial Structures

  • Auriculobranchiogenic Dysplasia

  • Fav

  • First And Second Pharyngeal Arch Syndromes

  • Goldenhar-Gorlin Syndrome

  • Lateral Facial Dysplasia

  • Oav Complex

  • Oral-Mandibular-Auricular Syndrome

  • Unilateral Intrauterine Facial Necrosis

  • Unilateral Mandibulofacial Dysostosis

  • Oav Spectrum

  • Oculoauricular Vertebral Dysplasia

  • Microsomia, Hemifacial

  • Goldenhar Syndrome With Ipsilateral Radial Defect

Charge Syndrome
  • Charge Association

  • Hall-Hittner Syndrome

  • Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

  • Hhs

  • Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

  • Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

  • CHARGES

Patau Syndrome
  • Trisomy 13

  • Complete Trisomy 13 Syndrome

  • Trisomy 13 Syndrome

  • D1 Trisomy

  • Patau'S Syndrome

  • Complete Trisomy 13

  • Chromosome 13, Trisomy 13 Complete

  • D Trisomy Syndrome

  • Bartholin-Patau Syndrome

  • Chromosome 13 Duplication

  • D1 Trisomy Syndrome

  • D>1< Trisomy Syndrome

  • Patau

  • Chromosome 13 Trisomy

  • Abnormal Autosomes 13

Ventricular Septal Defect
  • Ventricular Septal Defects

  • Interventricular Septal Defect

  • Heart Septal Defects, Ventricular

  • Ventricular Septal Abnormality

  • Interventricular Septum Defect

  • Ventricular Septum Defect

  • Vsd - [Ventricular Septum Defect]

  • Congenital Ventricular Septal Defect

  • Single Ventricular Septal Defect

Orofacial Cleft
  • Cleft, Orofacial

Scoliosis
Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Potocki-Lupski Syndrome
  • PTLS

  • Chromosome 17p11.2 Duplication Syndrome

  • 17p11.2 Microduplication Syndrome

  • Duplication 17p11.2 Syndrome

  • Trisomy 17p11.2

  • Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))

  • 17p11.2 Duplication Syndrome

  • Dup(17)(P11.2p11.2)

  • Pls

  • Chromosome 17, Trisomy 17p11 2

Hepatic Venoocclusive Disease With Immunodeficiency
  • VODI

  • Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome

  • Hepatic Veno-Occlusive Disease With Immunodeficiency

  • Familial Veno-Occlusive Disease With Immunodeficiency

  • Veno-Occlusive Disease And Immunodeficiency Syndrome

  • Vodi Syndrome

  • Vodi - [Veno-Occlusive Disease Immunodeficiency] Syndrome

Developmental And Epileptic Encephalopathy 66
  • DEE66

  • Epileptic Encephalopathy, Early Infantile, 66

  • Eiee66

  • Developmental And Epileptic Encephalopathy, 66

  • Early Infantile Epileptic Encephalopathy 66

  • Encephalopathy, Epileptic, Early Infantile, Type 66

Hypoplastic Left Heart Syndrome
  • Hlhs

  • Heart, Hypoplastic Left, Syndrome

  • Hypoplasia Of The Left Heart

  • Left Heart Hypoplasia Syndrome

  • Hlhs - [Hypoplastic Left Heart Syndrome]

  • Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome

  • Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome

  • Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle

  • Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia

  • Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome

  • Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome

Transposition Of The Great Arteries, Dextro-Looped
  • Transposition Of The Great Arteries

  • DTGA1

  • Dextro-Looped Transposition Of The Great Arteries

  • DTGA

  • Congenitally Uncorrected Transposition Of The Great Arteries

  • Congenitally Uncorrected Transposition Of The Great Vessels

  • D-Tga

  • Isolated Ventriculoarterial Discordance

  • Ventriculoarterial Discordance With Atrioventricular Concordance

  • Dextro-Transposition Of The Great Arteries

  • Transposition Of The Great Vessels

  • Great Vessels Transposition

  • Transposition Of The Great Arteries, Dextro-Looped 1

  • Arteries, Great, Transposition, Dextro-Looped

  • Ventriculoarterial Discordance, Isolated

  • D-Transposition Of The Great Arteries

  • Complete Transposition

  • Tga

  • Tgv

  • Transposition Of Great Vessels

  • Transposition Of The Great Arteries Dextro-Looped 1

  • Dextro-Looped Transposition Of The Great Arteries 1

  • Discordant Ventriculoarterial Connection

  • Complete Transposition Of Great Vessels

  • Great Vessels Complete Transposition

  • Total Great Vessel Transposition

  • Transposition Of Great Arteries

  • Complete Tga - [Transposition Of The Great Arteries]

  • Tga - [Transposition Of Great Arteries]

  • Tgv - [Transposition Of Great Vessels]

  • Transposition Of Great Vessels Nos

  • Transposed Vessels Nos

Kabuki Syndrome 1
  • Kabuki Syndrome

  • Niikawa-Kuroki Syndrome

  • Kabuki Make-Up Syndrome

  • Kms

  • KABUK1

  • Kabuki Make Up Syndrome

  • Nks

  • Kabuki Makeup Syndrome

  • Kabuki Syndrome, Type 1

Aortic Valve Disease 1
  • Aortic Valve Disease

  • Bicuspid Aortic Valve

  • Aortic Valve Disorder

  • AOVD1

  • Bav

  • Bicuspid Aortic Valve Disease

  • Familial Bicuspid Aortic Valve

  • Aortic Valve Calcification

  • Aovd

  • Aortic Valve, Bicuspid

  • Aortic Valve, Calcification Of

  • Aortic Stenosis, Calcific

  • Familial Bav

  • Calcific Aortic Stenosis

  • Calcification Of Aortic Valve

  • Abnormality Of The Aortic Valve

  • Aortic Valve Disease, Type 1

  • Aortic Valve Disease 2

  • Bicommissural Aortic Valve

Patent Foramen Ovale
  • Atrial Septal Defect Within Oval Fossa

  • Foramen Ovale Patent

  • Ostium Secundum Atrial Septal Defect

  • Atrial Septal Defect, Ostium Secundum Type

  • Foramen Ovale, Patent

  • Defect, Patent Or Persistent, Ostium Secundum

  • Ostium Secundum Type Atrial Septal Defect

  • Persistent Ostium Secundum

  • Asd Ostium Secundum Type

  • Ostium Secundum Asd

  • Osasd

  • Asd, Ostium Secundum Type

  • Pfo - [Patent Foramen Ovale]

  • Open Foramen Ovale

  • Open Oval Foramen

  • Persistent Foramen Ovale

  • Secundum Atrial Septal Defect

Physical Disorder
  • Physical Illness

Williams-Beuren Syndrome
  • Williams Syndrome

  • WBS

  • Wms

  • Deletion 7q11.23

  • Monosomy 7q11.23

  • Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

  • Fanconi Schlesinger Syndrome

  • Beuren Syndrome

  • Elfin Facies Syndrome

  • Elfin Facies With Hypercalcemia

  • Hypercalcemia-Supravalvar Aortic Stenosis

  • Ws

Coloboma Of Macula
  • Coloboma

  • Congenital Ocular Coloboma

  • Microphthalmia, Isolated, With Coloboma

  • Agenesis Of Macula

  • Hereditary Macular Coloboma

  • Ocular Coloboma

  • Coloboma Of Eye

  • Macular Coloboma

  • Uveoretinal Coloboma

Rasopathy
  • Ras/Mitogen-Activated Protein Kinase Syndrome

Noonan Syndrome 1
  • Noonan Syndrome

  • NS1

  • Male Turner Syndrome

  • Female Pseudo-Turner Syndrome

  • Turner Phenotype With Normal Karyotype

  • Noonan Syndrome With Pigmented Villonodular Synovitis

  • Turner'S Phenotype, Karyotype Normal

  • Familial Turner Syndrome

  • Noonan'S Syndrome

  • Noonan-Ehmke Syndrome

  • Ns

  • Pseudo-Ullrich-Turner Syndrome

  • Turner Syndrome In Female With X Chromosome

  • Turner-Like Syndrome

  • Ullrich-Noonan Syndrome

  • Noonan-Like/Multiple Giant Cell Lesion Syndrome

  • Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

  • Pterygium Colli Syndrome

  • Noonan Syndrome, Type 1

  • Turner Syndrome, Male

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris TBX1 VGNC VGNC:52972
Felis catus TBX1 VGNC VGNC:80497
Mus musculus TBX1 MGD MGI:98493
Macaca mulatta TBX1 VGNC VGNC:98456
Bos taurus TBX1 VGNC VGNC:106969
Rattus norvegicus TBX1 RGD RGD:1307734
Others TBX1 NCBI