NKX2-5 - NK2 homeobox 5 Gene

Also Known as CSX; CSX1; VSD3; CHNG5; HLHS2; NKX2E; NKX2.5; NKX4-1

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 1482

About NKX2-5

Cytogenetic location: 5q35.1 Genomic coordinates (GRCh38): 5:173,232,109-173,235,206 (from NCBI)

This gene has 4 transcripts (splice variants), 203 orthologues, 13 paralogues and is associated with 21 phenotypes. Restricted expression toward heart (RPKM 9.4).

Summary

This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

NKX2-5 Products (3)

mRNA Protein Name
NM_001166175.2 NP_001159647.1 homeobox protein Nkx-2.5 isoform 2
NM_001166176.2 NP_001159648.1 homeobox protein Nkx-2.5 isoform 3
NM_004387.4 NP_004378.1 homeobox protein Nkx-2.5 isoform 1
Molecular Function GO Annotation Evidence 参考文献 由来
enables DNA binding IDA
IDA: Inferred from direct assay
9858576 GOA
enables DNA-binding transcription activator activity IDA
IDA: Inferred from direct assay
29325903 GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
19578358 GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
IMP: Inferred from mutant phenotype
15649947 GOA
contributes to DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
9312027 GOA
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
9858576 GOA
enables DNA-binding transcription factor activity IMP
IMP: Inferred from mutant phenotype
11431700 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
22849347 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
IMP: Inferred from mutant phenotype
15649947 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
9858576 GOA
enables chromatin binding IDA
IDA: Inferred from direct assay
16678093 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9312027 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
10948187 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
19479054 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in adult heart development IMP
IMP: Inferred from mutant phenotype
9651244 GOA
involved in atrial septum morphogenesis IMP
IMP: Inferred from mutant phenotype
9651244 GOA
acts upstream of or within cardiac conduction system development IMP
IMP: Inferred from mutant phenotype
15109497 GOA
involved in cardiac conduction system development IMP
IMP: Inferred from mutant phenotype
27207958 GOA
involved in cardiac muscle tissue morphogenesis IMP
IMP: Inferred from mutant phenotype
11889119 GOA
involved in negative regulation of cardiac muscle cell apoptotic process IMP
IMP: Inferred from mutant phenotype
11889119 GOA
involved in negative regulation of myotube differentiation IMP
IMP: Inferred from mutant phenotype
15653675 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
19479054 GOA
involved in outflow tract septum morphogenesis IMP
IMP: Inferred from mutant phenotype
20807224 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
11431700 GOA
involved in positive regulation of neuron differentiation IMP
IMP: Inferred from mutant phenotype
15653675 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
10948187 GOA
acts upstream of or within positive regulation of transcription by RNA polymerase II IGI
IGI: Inferred from genetic interaction
16678093 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
11431700 GOA
involved in regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
22849347 GOA
involved in right ventricular cardiac muscle tissue morphogenesis IMP
IMP: Inferred from mutant phenotype
20807224 GOA
involved in septum secundum development IMP
IMP: Inferred from mutant phenotype
10587520 GOA
involved in spleen development IMP
IMP: Inferred from mutant phenotype
22560297 GOA
involved in thyroid gland development IMP
IMP: Inferred from mutant phenotype
16418214 GOA
involved in ventricular septum morphogenesis IMP
IMP: Inferred from mutant phenotype
10587520 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
part of Nkx-2.5 complex IPI
IPI: Inferred from physical interaction
22849347 GOA
part of RNA polymerase II transcription regulator complex IDA
IDA: Inferred from direct assay
9312027 GOA
located in nucleus IDA
IDA: Inferred from direct assay
9858576 GOA
part of protein-DNA complex IDA
IDA: Inferred from direct assay
22849347 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
26926761 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

NKX2-5 Protein Structure

Homeobox

Homeobox: Homeobox domain (139 - 195)

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

homeobox protein Nkx-2.5

  • NK2 transcription factor related, locus 5

NKX2-5 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
NKX2-5 P52952 KRTAP8-1 Homo sapiens Q8IUC2 32296183
Intra
NKX2-5 P52952 KRTAP8-1 Homo sapiens Q8IUC2 32296183
Intra
NKX2-5 P52952 KRTAP8-1 Homo sapiens Q8IUC2 32296183
Intra
NKX2-5 P52952 SHOX Homo sapiens O15266-2 32296183
Intra
NKX2-5 P52952 SHOX Homo sapiens O15266-2 32296183
Intra
NKX2-5 P52952 TBX5 Homo sapiens Q99593-1
Y2H
11431700
Intra
NKX2-5 P52952 TBX5 Homo sapiens Q99593-1 11431700
Intra
NKX2-5 P52952 TBX5 Homo sapiens Q99593-1 11431700
Intra
NKX2-5 P52952 TBX5 Homo sapiens Q99593-1 11431700
Intra
NKX2-5 P52952 TRIP10 Homo sapiens Q15642-2 32296183
Intra
NKX2-5 P52952 GATA4 Homo sapiens P43694 10075728
Intra
NKX2-5 P52952 RBPMS Homo sapiens Q93062-3 32296183
Intra
NKX2-5 P52952 RBPMS Homo sapiens Q93062-3 32296183
Intra
NKX2-5 P52952 RBPMS Homo sapiens Q93062-3 32296183
Cross
NKX2-5 P52952 Fblim1 Mus musculus Q71FD7 14757752
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
Hypothyroidism, Congenital, Nongoitrous, 5
  • CHNG5

  • Hypothyroidism, Congenital Nongoitrous, 5

  • Congenital Nongoitrous Hypothyroidism 5

  • Hypothyroidism, Congenital, Non-Goitrous, 5

  • Hypothyroidism, Congenital, Nongoitrous, Type 5

Ventricular Septal Defect 3
  • VSD3

Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
  • Asd With Or Without Atrioventricular Conduction Defects

  • ASD7

  • Atrial Septal Defect 7, With Or Without Av Conduction Defects

  • Atrial Septal Defect 7, With Or Without Atrioventricular Conduction Defects

  • Asd With Atrioventricular Conduction Defects

  • Atrial Septal Defect 7 With Or Without Av Conduction Defects

  • Septal Defect, Atrial, Type 7 With/Without Atrioventricular Conduction Defects

Hypoplastic Left Heart Syndrome 2
  • HLHS2

  • Heart, Hypoplastic Left, Syndrome, Type 2

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]

Atrial Heart Septal Defect 7
  • Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome

  • Asd With Or Without Atrioventricular Conduction Defects

  • Atrial Septal Defect 7, With Or Without Av Conduction Defects

  • Atrial Septal Defect With Atrioventricular Conduction Defects

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

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

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

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

Aortic Arch Interruption
  • Interrupted Aortic Arch

  • Aorta Atresia

  • Iaa - [Interrupted Aortic Arch]

  • Aorta Arch Atresia

  • Aorta Ring Atresia

  • Aortic Arch Atresia

  • Aortic Ring Atresia

Thyroid Ectopia
Athyreosis
Asplenia, Isolated Congenital
  • ICAS

  • Splenic Hypoplasia

  • Familial Isolated Congenital Asplenia

  • Hyposplenia, Isolated Congenital

  • Asplenia, Familial

  • Isolated Congenital Asplenia

  • Congenital Hypoplasia Of Spleen

  • Hypoplasia Of Spleen

  • Spenlic Hypoplasia

  • Congenital Isolated Hyposplenia

  • Familial Asplenia

Interatrial Communication
  • Asd

  • Atrial Septal Defect

  • Interauricular Communication

Left Ventricular Noncompaction
  • Noncompaction Cardiomyopathy

  • Left Ventricular Hypertrabeculation

  • Lvnc

  • Spongy Myocardium

  • Isolated Noncompaction Of The Ventricular Myocardium

  • Left Ventricular Myocardial Noncompaction Cardiomyopathy

  • Fetal Myocardium

  • Honeycomb Myocardium

  • Hypertrabeculation Syndrome

  • Left Ventricular Non-Compaction

  • Lvht

  • Non-Compaction Of The Left Ventricular Myocardium

  • Ventricular Noncompaction, Left

  • Non-Compaction Cardiomyopathy

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

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

Familial Atrial Fibrillation
  • Atrial Fibrillation, Familial

  • Atfb

  • Atrial Fibrillation Autosomal Dominant

  • Autosomal Dominant Atrial Fibrillation

  • Auricular Fibrillation

  • Atrial Fibrillation

  • Atrial Fibrillation, Familial, 1

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

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

Deletion 5q35
  • Del (5)(Q35)

  • Del (5)(Qter)

  • Distal 5q Deletion

  • Monosomy 5q35

  • Telomeric Deletion 5q

  • Chromosome 5, Monosomy 5q35

Heart Septal Defect
  • Septal Defect

  • Heart Septal Defects

  • Cardiac Septal Defects

  • Congenital Septal Defect Of Heart

Atrioventricular Block
  • Av Block

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

Familial Progressive Cardiac Conduction Defect
  • Familial Lenegre Disease

  • Familial Lev Disease

  • Familial Lev-Lenegre Disease

  • Familial Pccd

  • Familial Progressive Heart Block

  • Hereditary Bundle Branch Defect

  • Hereditary Bundle Branch System Defect

Ebstein Anomaly
  • Ebstein'S Anomaly

  • Ebstein'S Anomaly Of Common Atrioventricular Valve

  • Ebstein'S Anomaly Of Right Atrioventricular Valve

  • Ebstein'S Anomaly Of Tricuspid Valve

  • Ebstein'S Malformation

  • Ebstein Malformation Of The Tricuspid Valve

  • Ebstein Anomaly Of The Tricuspid Valve

  • Ebstein Disease

  • Accessory Tricuspid Valve Tissue

  • Congenital Ebstein Deformity Of Tricuspid Valve

  • Ebstein Syndrome

  • Ebstein Cardiopathy

  • Ebstein Anomaly Of Tricuspid Valve

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

Hypothyroidism
  • Thyroid Diseases

  • Thyroid Disease

  • Thyroid Deficiency

  • Thyroid Insufficiency

  • Dysfunction Thyroid

  • Thyroid Dysfunction

Congenital Hypothyroidism
  • Cretinism

  • Neonatal Hypothyroidism

  • Ch

  • Cht

  • Congenital Myxedema

  • Myxedema, Congenital

  • Endemic Cretinism

  • Congenital Iodine-Deficiency Syndrome

  • Fetal Iodine Deficiency Syndrome

  • Congenital Iodine-Deficiency Hypothyroidism Nos

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

Pyloric Stenosis
Ciliary Dyskinesia, Primary, 40
  • CILD40

  • Ciliary Dyskinesia, Primary, 40, With Or Without Situs Inversus

  • Primary Ciliary Dyskinesia 40

  • Primary Ciliary Dyskinesia 40 With Or Without Situs Inversus

Syndromic X-Linked Intellectual Disability 34
  • Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome

  • Mental Retardation, X-Linked, Syndromic 34

  • Mrxs34

  • Mrxsml

  • Syndromic X-Linked Mental Retardation Mircsof-Langouet Type

Wolff-Parkinson-White Syndrome
  • Wolff-Parkinson-White Pattern

  • Wpw Syndrome

  • Anomalous Atrioventricular Excitation

  • Anomalous A-V Excitation

  • Ventricular Pre-Excitation With Arrhythmia

  • WPWS

  • Ventricular Familial Preexcitation Syndrome

  • Preexcitation Syndrome

  • Ventricular Preexcitation

  • Wpw - [Wolff-Parkinson- White] Syndrome

  • Pre-Excitation Syndrome

Hypoplastic Right Heart Syndrome
  • Right Hypoplastic Heart Syndrome

Tricuspid Atresia
  • Congenital Agenesis Of The Tricuspid Valve

Hypertrophic Pyloric Stenosis
  • Congenital Hypertrophic Pyloric Stenosis

  • Pyloric Stenosis, Hypertrophic

  • Congenital Or Infantile Stricture Of Pylorus

  • Achalasia Of The Pylorus

  • Congenital Hypertrophy Of The Pylorus

  • Infantile Hypertrophy Of The Pylorus

  • Infantile Constriction Of The Pylorus

  • Congenital Stenosis Of The Pylorus

  • Congenital Constriction Of The Pylorus

  • Congenital Stricture Of The Pylorus

  • Infantile Hypertrophic Pyloric Stenosis

  • Infantile Stenosis Of The Pylorus

  • Infantile Stricture Of The Pylorus

  • Congenital Or Infantile Constriction Of Pylorus

  • Infantile Pyloric Obstruction

  • Infantile Pyloric Hypertrophy

  • Pylorus Achalasia

  • Pyloric Constriction

  • Infantile Pyloric Stricture

  • Infantile Pyloric Stenosis

  • Congenital Spasm Of Pylorus

  • Congenital Pylorospasm

  • Congenital Pyloric Stricture

  • Congenital Pyloric Spasm

  • Congenital Or Infantile Spasm Of Pylorus

  • Congenital Or Infantile Obstruction Of Pylorus

  • Congenital Pyloric Stenosis

Tricuspid Valve Disease
  • Rheumatic Tricuspid Valve Disease

  • Disease Of Tricuspid Valve

  • Rh. Tricuspid Valve Disease

  • Rheumatic Disease Of Tricuspid Valve

  • Tricuspid Disease

  • Tricuspid Valve Disorder

Thyroid Malformation
Total Anomalous Pulmonary Venous Return 1
  • Scimitar Syndrome

  • Total Anomalous Pulmonary Venous Return

  • Anomalous Pulmonary Venous Return

  • Scimitar Anomaly

  • TAPVR1

  • Apvr

  • Halasz Syndrome

  • Hypogenetic Lung Syndrome

  • Pulmonary Venolobar Syndrome

  • TAPVR

  • Congenital Total Pulmonary Venous Return Anomaly

  • Congenital Venolobar Syndrome

  • Mirror-Image Lung Syndrome

  • Vena Cava Bronchovascular Syndrome

  • Pulmonary Venous Return Anomaly

  • Congenital Pulmonary Venolobar Syndrome

  • Epibronchial Right Pulmonary Vein Syndrome

Ovarian Endodermal Sinus Tumor
  • Endodermal Sinus Tumor Of Ovary

  • Ovarian Yolk Sac Tumor

  • Endodermal Sinus Tumour Of Ovary

  • Ovarian Endodermal Sinus Tumour

  • Ovarian Yolk Sac Tumour

Physical Disorder
  • Physical Illness

Myasthenic Syndrome, Congenital, 20, Presynaptic
  • Congenital Myasthenic Syndrome 20

  • CMS20

  • Congenital Myasthenic Syndrome 20 Presynaptic

  • Myasthenic Syndrome, Congenital, Type 20, Presynaptic

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

Jacobsen Syndrome
  • Chromosome 11q Deletion Syndrome

  • Partial 11q Monosomy Syndrome

  • Jacobsen Distal 11q Deletion Syndrome

  • JBS

  • 11q Partial Monosomy Syndrome

  • Chromosome 11q Deletion

  • 11q Deletion

  • 11q Monosomy

  • Deletion 11q

  • Monosomy 11q

  • Partial Monosomy 11q

  • 11q Deletion Disorder

  • 11q Deletion Syndrome

  • 11q Terminal Deletion Disorder

  • 11q- Deletion Syndrome

  • 11q23 Deletion Disorder

  • Jacobsen Thrombocytopenia

  • 11q Terminal Deletion Syndrome

  • Del(11)(Q23.3)

  • Del(11)(Qter)

  • Distal Deletion 11q

  • Distal Monosomy 11q

  • Monosomy 11qter

  • Telomeric Deletion 11q

  • Paris-Trousseau Thrombocytopenia

Ovarian Primitive Germ Cell Tumor
Myasthenic Syndrome, Congenital, 15
  • Congenital Myasthenic Syndrome 15

  • CMS15

  • Myasthenic Syndrome, Congenital, Without Tubular Aggregates

  • Cmswta

  • Myasthenic Syndrome, Congenital, 15, Without Tubular Aggregates

  • Congenital Myasthenic Syndrome 15 Without Tubular Aggregates

  • Myasthenic Syndrome, Congenital, Type 15, Without Tubular Aggregates

Pulmonary Valve Disease
  • Pulmonary Valve Disorder

Pulmonary Valve Stenosis
  • Valvular Pulmonary Stenosis

  • Heart Valve Pulmonary Stenosis

  • Valvar Pulmonary Stenosis

  • Valvate Pulmonary Stenosis

  • Pulmonary Stenosis

  • Pulmonary Valve Stricture

  • Pulmonic Valve Stenosis

  • Ps - [Pulmonary Valve Stenosis]

  • Pvs - [Pulmonary Valve Stenosis]

  • Pulmonary Valvular Stricture

  • Pulmonary Valvular Stenosis

  • Pulmonary Valvular Obstruction

  • Pulmonary Valve Obstruction

  • Obstructed Pulmonary Valve

Pulmonary Hypertension
  • Primary Pulmonary Hypertension

  • Hypertension Pulmonary

  • Hypertension, Pulmonary

  • Hypertension, Pulmonary, Primary

  • Idiopathic Pulmonary Hypertension

  • Idiopathic Pulmonary Arterial Hypertension

  • Pulmonary Htn - [Hypertension]

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

Atrial Septal Defect 5
  • ASD5

  • Atrial Heart Septal Defect 5

  • Septal Defect, Atrial, Type 5

Subvalvular Aortic Stenosis
  • Fixed Subaortic Stenosis

  • Subaortic Stenosis

  • Aortic Stenosis, Subvalvular

Atrial Septal Defect 2
  • ASD2

  • Atrial Heart Septal Defect 2

  • Atrial Septal Defect-2

  • Asd Ii

  • Septal Defect, Atrial, Type 2

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

Sinoatrial Node Disease
  • Sa Node

  • Sinuatrial Node

  • Sinus Node Dysfunction

Ulnar-Mammary Syndrome
  • Schinzel Syndrome

  • UMS

  • Pallister Ulnar-Mammary Syndrome

  • Ulnar-Mammary Syndrome Of Pallister

Tricuspid Valve Stenosis
  • Tricuspid Stenosis

  • Tricuspid Stricture

  • Tricuspid Valve Stricture

  • Tricuspid Insufficiency With Obstruction

  • Tricuspid Insufficiency With Stenosis

Right Atrial Isomerism
  • Ivemark Syndrome

  • Asplenia With Cardiovascular Anomalies

  • RAI

  • Asplenia Syndrome

  • Asplenia

  • Right Isomerism

  • Splenic Agenesis Syndrome

  • Bilateral Right-Sidedness Sequence

  • Right Sided Atrial Isomerism

  • Isomerism Of Right Atrial Appendage

  • Heterotaxy, Visceroatrial, Autosomal Recessive

  • Polyasplenia

  • Vah, Autosomal Recessive

  • Atrial Isomerism, Right

  • Congenital Absence Of Spleen

  • Bilateral Right-Sidedness

Orofaciodigital Syndrome Viii
  • Edwards Syndrome

  • Trisomy 18

  • Complete Trisomy 18 Syndrome

  • OFD8

  • Orofaciodigital Syndrome 8

  • Trisomy 18 Syndrome

  • Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis

  • E3 Trisomy

  • Oral-Facial-Digital Syndrome Type 8

  • Orofaciodigital Syndrome Type 8

  • Ofds Viii

  • Oral-Facial-Digital Syndrome, Type Viii

  • Ofd Syndrome 8

  • Ofds 8

  • Oral Facial Digital Syndrome 8

  • Oral Facial Digital Syndrome Type 8

  • 18 Trisomy

  • Chromosome 18 Trisomy

  • Trisomy 16-18

  • Trisomy E

  • Trisomy E Syndrome

  • Chromosome 18 Duplication

  • Oral-Facial-Digital Syndrome, Edwards Type

  • Orofaciodigital Syndrome, Edwards Type

  • Chromosome 18, Trisomy

  • Cleft Lip/Palate With Abnormal Thumbs And Microcephaly

  • Trisomy 18 Chromosome

  • Abnormal Autosomes 18

Fanconi Renotubular Syndrome 1
  • Renal Fanconi Syndrome

  • Adult Fanconi Syndrome

  • FRTS1

  • Fanconi Renotubular Syndrome

  • Frts

  • Rfs

  • Fanconi Syndrome Without Cystinosis

  • Luder-Sheldon Syndrome

Pulmonary Valve Insufficiency
  • Pulmonary Regurgitation

  • Pulmonary Incompetence

  • Pulmonary Incompetence, Non-Rheumatic

  • Pulmonary Insufficiency Following Trauma And Surgery

  • Pulmonary Regurg.

  • Pulmonic Insufficiency

  • Pulmonic Valve Regurgitation

  • Pulmonary Valve Incompetence

  • Pulmonary Valve Incompetency

  • Pulmonary Valvular Insufficiency

  • Pulmonary Valvular Regurgitation

  • Pulmonary Valvular Incompetency

  • Pulmonary Valve Incompetence Nos

  • Annular Incompetency Pulmonary Valve

  • Incompetent Pulmonary Valve

  • Graham Steell Murmur

  • Pulmonary Valvular Incompetence

Endocardial Fibroelastosis
  • Endomyocardial Fibroelastosis

  • Elastomyofibrosis

  • EFE

  • Efe - [Endocardial Fibroelastosis]

  • Primary Endocardial Fibroelastosis

  • Fibroelastosis Cordis

  • Fetal Endocarditis

  • Fibroelastosis

  • Congenital Endocardial Fibroelastosis

  • Congenital Valvular Endocarditis

Germ Cell And Embryonal Cancer
  • Germ Cell And Embryonal Neoplasm

Lipoprotein Quantitative Trait Locus
  • Coronary Artery Disease

  • Coronary Artery Anomaly

  • Coronary Artery Disease, Susceptibility To

  • Myocardial Ischemia

  • Congenital Anomaly Of Coronary Artery

  • Coronary Arteriosclerosis

  • Coronary Disease

  • Coronary Heart Disease

  • Coronary Artery Disorder

  • LPAQTL

  • Lpa Deficiency, Congenital

  • Coronary Artery Abnormality

  • Coronary Artery Anomaly, Congenital

  • Chd

  • Coronary Syndrome

  • Congenital Malformations Of Coronary Vessels

  • Malformation Of Coronary Vessels

  • Congenital Coronary Artery Anomaly

  • Congenital Coronary Artery Deformity

  • Congenital Coronary Artery Disorder

  • Abnormal Coronary Artery

  • Congenital Coronary Artery Malposition

  • Congenital Coronary Disease

  • Congenital Anomaly Of Coronary Arteries

Aortic Valve Insufficiency
  • Aortic Regurgitation

  • Rheumatic Aortic Regurgitation

  • Aortic Insufficiency

  • Rheumatic Aortic Insufficiency

  • Rheumatic Aortic Valve Insufficiency

  • Aortic Incompetence

  • Corrigan'S Disease

  • Rheumatic Aortic Valve Regurgitation

  • Aortic Valve Incompetency

  • Ai - [Aortic Incompetence]

  • Incompetent Aortic Valve

  • Ar - [Aortic Regurgitation]

  • Calcific Aortic Valve Regurgitation

  • Myxomatous Aortic Valve Regurgitation

  • Annular Incompetency Of Aortic Valve

  • Austin Flint Murmur

  • Flint Murmur

  • Rheumatic Aortic Incompetence

  • Rheumatic Ai - [Aortic Insufficiency]

Intrinsic Cardiomyopathy
Heart Valve Disease
  • Heart Valve Diseases

  • Valvular Heart Disease

  • Valvular Heart Diseases

  • Heart Valve Prolapse

Chromosomal Deletion Syndrome
Germ Cell Cancer
  • Malignant Germ Cell Tumor

  • Neoplasms, Germ Cell And Embryonal

  • Germ Cell Neoplasm

  • Germ Cell Tumour

  • Malignant Tumor Of The Germ Cell

  • Neoplasms Germ Cell

  • Malignant Germ Cell Neoplasm

Wolf-Hirschhorn Syndrome
  • Pitt-Rogers-Danks Syndrome

  • WHS

  • Chromosome 4p16.3 Deletion Syndrome

  • Wittwer Syndrome

  • 4p- Syndrome

  • Pitt Syndrome

  • 4p Deletion Syndrome

  • Distal Deletion 4p

  • Distal Monosomy 4p

  • Telomeric Deletion 4p

  • Prds

  • 4p Syndrome

  • Chromosome 4p Syndrome

  • Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

  • Wolf Syndrome

  • Chromosome 4p Deletion Syndrome

  • Chromosome 4p Monosomy

  • Del Syndrome

  • Monosomy 4p

  • Partial Monosomy 4p

  • Chromosome 4 Short Arm Deletion

Axenfeld-Rieger Syndrome
  • Axenfeld Syndrome

  • Rieger Syndrome

  • Rieger Anomaly

  • Axenfeld Anomaly

  • Anomaly, Rieger'S

  • Hagedoom Syndrome

  • Rgs - Rieger Syndrome

  • Rieger'S Anomaly

  • Goniodysgenesis Hypodontia

  • Iridogoniodysgenesis With Somatic Anomalies

  • Ars

  • Axenfeld And Rieger Anomaly

  • Axra

  • Axrs

  • Rieger Eye Malformation Sequence

Noonan Syndrome With Multiple Lentigines
  • Leopard Syndrome

  • Multiple Lentigines Syndrome

  • Moynahan Syndrome

  • Cardiomyopathic Lentiginosis

  • Progressive Cardiomyopathic Lentiginosis

  • Cardio-Cutaneous Syndrome

  • Lentiginosis Profusa

  • Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome

  • Generalized Lentiginosis

  • Gorlin Syndrome Ii

  • Lentiginosis Profusa Syndrome

  • Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes

  • Diffuse Lentiginosis

  • Nsml

  • Familial Multiple Lentigines Syndrome

  • Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type

  • Progressive Cardiomyopathic Lentiginosis Syndrome

  • Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan

Heart Conduction Disease
  • Conduction Disorder Of The Heart

  • Heart Rhythm Disease

Aortic Valve Disease 2
  • Aortic Valve Stenosis

  • Aortic Stenosis

  • Rheumatic Aortic Stenosis

  • AOVD2

  • Bicuspid Aortic Valve

  • Rheumatic Aortic Valve Stenosis

  • Valvular Aortic Stenosis

  • Aortic Valve Disease, Type 2

  • Aortic Valve Stricture

  • Aortic Valve Obstruction

  • Obstructed Aorta Valve

  • Rheumatic Aortic Obstruction

  • Rheumatic Aortic Valve Obstruction

  • Rheumatic Aortic Stricture

  • Aortic Valve Regurgitation

  • Aortic Insufficiency With Stenosis

  • Rheumatic Aortic Valve Stenosis With Insufficiency

  • Rheumatic Aortic Stenosis With Incompetence

  • Rheumatic Aortic Stenosis With Regurgitation

Rasopathy
  • Ras/Mitogen-Activated Protein Kinase Syndrome

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

Chromosome 1p36 Deletion Syndrome
  • 1p36 Deletion Syndrome

  • Deletion 1p36

  • Monosomy 1p36

  • Subtelomeric 1p36 Deletion

  • Monosomy 1p36 Syndrome

  • Distal Monosomy 1p36

  • Del(1)(P36)

  • Deletion 1pter

  • Monosomy 1pter

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

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

Brugada Syndrome
  • Sudden Unexpected Nocturnal Death Syndrome

  • Sudden Unexplained Nocturnal Death Syndrome

  • Bangungut

  • Brugada Type Idiopathic Ventricular Fibrillation

  • Pokkuri Death Syndrome

  • Sunds

  • Idiopathic Ventricular Fibrillation, Brugada Type

  • Sudden Unexplained Death

  • Dream Disease

  • Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

  • Sudden Unexplained Death Syndrome

  • Suds

  • Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Orthostatic Intolerance
  • Mitral Valve Prolapse

  • Neurocirculatory Asthenia

  • Mitral Valve Prolapse Syndrome

  • Irritable Heart

  • Systolic Click-Murmur Syndrome

  • Soldiers Heart

  • Cardiovascular Malfunction Arising From Mental Factors

  • Cardiovascular Neurosis

  • Da Costa'S Syndrome

  • Krishaber'S Disease

  • Barlow'S Syndrome

  • Floppy Mitral Valve

  • Mitral Leaflet Syndrome

  • Myxomatous Mitral Valve Prolapse

  • Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

  • Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

  • Orthostatic Intolerance Due To Net Deficiency

  • Pots Due To Net Deficiency

  • OI

  • Intolerance, Orthostatic

  • Mitral Valve Prolapse, Familial, X-Linked

  • Ballooning Mitral Valve

  • Barlow Syndrome

  • Flail Mitral Leaflet

  • Myxomatous Mitral Valve

  • Mitral Valve Prolapse-Click Syndrome

  • Prolapsing Mitral Valve Leaflet Syndrome

  • Billowing Mitral Valve Leaflet

  • Posterior Mitral Leaflet Deformity

  • Ballooning Posterior Leaflet Syndrome

  • Blue Valve Syndrome

  • Floppy Mitral Valve Syndrome

  • Mitral Valvular Prolapse

  • Systolic Click Syndrome

Long Qt Syndrome
  • Romano-Ward Syndrome

  • Long Q-T Syndrome

  • Lqt

  • Qt Syndrome, Long

  • Congenital Long Qt Syndrome

  • Familial Long Qt Syndrome

Aortic Aneurysm, Familial Thoracic 1
  • Thoracic Aortic Aneurysm

  • Annuloaortic Ectasia

  • Familial Thoracic Aortic Aneurysm And Aortic Dissection

  • Familial Aortic Dissection

  • Familial Taad

  • Familial Thoracic Aortic Aneurysm

  • Congenital Aneurysm Of Ascending Aorta

  • Familial Aortic Aneurysm

  • Familial Thoracic Aortic Aneurysm And Dissection

  • Aortic Aneurysm, Thoracic

  • AAT1

  • Faa1

  • Aortic Dissection, Familial

  • Aortic Aneurysm, Familial Thoracic

  • Aneurysm, Thoracic Aortic

  • Faa

  • Ftaad

  • Taa

  • Taad

  • Cystic Medial Necrosis Of Aorta

  • Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

  • Aortic Aneurysm Thoracic

  • Familial Aortic Aneurysms

  • Aneurysm, Aortic, Thoracic, Familial, Type 1

  • Aneurysm Of Thoracic Aorta

  • Intrathoracic Aneurysm

  • Thoracic Aorta Aneurysm

  • Thoracic Aortic Aneurysm Without Rupture

  • Thoracic Aneurysm

  • Thorax Arterial Aneurysm

  • Thoracic Artery Aneurysm

  • Thoracic Arterial Aneurysm

  • Thorax Aneurysm

  • Thorax Aortic Aneurysm

  • Dissection Of Thoracic Aorta

Long Qt Syndrome 1
  • Romano-Ward Syndrome

  • LQT1

  • Ward-Romano Syndrome

  • Rws

  • Ventricular Fibrillation With Prolonged Qt Interval

  • Wrs

  • Long Qt Syndrome 1, Acquired, Susceptibility To

  • Long Qt Syndrome 1, Acquired

  • Romano-Ward Long Qt Syndrome

  • Long Qt Syndrome Type 1

  • Long Qt Syndrome-1

  • Acquired Susceptibility To Long Qt Syndrome 1

  • Qt Syndrome, Long, Type 1

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

Cardiomyopathy, Familial Hypertrophic, 1
  • Asymmetric Septal Hypertrophy

  • Familial Hypertrophic Cardiomyopathy

  • Hypertrophic Cardiomyopathy 1

  • CMH1

  • Hypertrophic Cardiomyopathy 19

  • CMH

  • Ventricular Hypertrophy, Hereditary

  • Ash

  • Hypertrophic Subaortic Stenosis, Idiopathic

  • Cardiomyopathy, Familial Hypertrophic

  • Cardiomyopathy, Hypertrophic, 1, Digenic

  • Cardiomyopathy, Familial Hypertrophic 1

  • Hcm

  • Hereditary Ventricular Hypertrophy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Hypertrophic Cardiomyopathy

  • Cardiomyopathy, Hypertrophic, Familial

  • Cardiomyopathy, Hypertrophic, 1

  • Familial Asymmetric Septal Hypertrophy

  • Heritable Hypertrophic Cardiomyopathy

  • Fhc

  • Cardiomyopathy, Hypertrophic, Familial, Type 1

Visceral Heterotaxy
  • Situs Ambiguus

  • Heterotaxia

  • Heterotaxy Syndrome

  • Heterotaxy

  • Lateralization Defect

  • Situs Ambiguous

  • Left Isomerism

  • Htx

  • Ivemark Syndrome

  • Right Isomerism

  • Situs Ambiguus Viscerum

  • Incomplete Situs Inversus

  • Partial Situs Inversus

  • Heterotaxy, Visceral

  • Asplenia Syndrome

  • Bilateral Left-Sidedness

  • Polysplenia Syndrome

  • Moller Syndrome

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

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

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

生物種 Symbol 由来 ID
Mus musculus NKX2-5 MGD MGI:97350
Bos taurus NKX2-5 VGNC VGNC:32102
Felis catus NKX2-5 VGNC VGNC:63817
Macaca mulatta NKX2-5 VGNC VGNC:110448
Rattus norvegicus NKX2-5 RGD RGD:620520
Canis familiaris NKX2-5 VGNC VGNC:43834
Others NKX2-5 NCBI