CTHM
MCID: CNT061
MIFTS: 62

Conotruncal Heart Malformations (CTHM) malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Conotruncal Heart Malformations

Aliases & Descriptions for Conotruncal Heart Malformations:

Name: Conotruncal Heart Malformations 54 50 66 29 69
Conotruncal Anomaly Face Syndrome 54 24 66 29 13 69
Double Outlet Right Ventricle 12 50 56 29 42 14
Persistent Truncus Arteriosus 54 38 50 66
Double-Outlet Right Ventricle 54 24 66
Tac 56 66 3
Double Outlet Right Ventricle with Subpulmonary Ventricular Septal Defect 12 56
Conotruncal Heart Malformations, Variable 54 24
Common Arterial Trunk 56 66
Truncus Arteriosus 56 29
Cthm 50 66
Dorv 56 66
Double Outlet Right Ventricle with Transposition of the Great Arteries 56
Double Outlet Right Ventricle, Unspecified 12
Double Outlet Right Ventricle Nos 12
Dorv, Truncus Arteriosus Communis 24
Taussig-Bing Syndrome or Defect 12
Common Aortico-Pulmonary Trunk 56
Truncus Arteriosus, Persistent 42
Dextrotransposition of Aorta 12
Conotruncal Cardiac Defects 50
Truncus Arteriosus Communis 66
Dorv with Subpulmonary Vsd 56
Conotruncal Heart Defects 66
Taussig-Bing Syndrome 56
Dorv-Tga 56
Ctaf 24
Cafs 66
Cthd 66
Pta 66

Characteristics:

Orphanet epidemiological data:

56
truncus arteriosus
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe),1-9/100000 (Belgium),1-9/100000 (France),1-9/100000 (Germany),1-9/100000 (Hungary),1-9/100000 (Ireland),1-9/100000 (Italy),1-9/100000 (Netherlands),1-9/100000 (Norway),1-9/100000 (Poland),1-9/100000 (Spain),1-5/10000 (Switzerland),1-9/100000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Infancy,Neonatal;
double outlet right ventricle
Inheritance: Multigenic/multifactorial; Prevalence: 1-5/10000 (Germany); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
conotruncal heart malformations:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 217095
Disease Ontology 12 DOID:6406
ICD9CM 35 745.11
NCIt 47 C98916
ICD10 via Orphanet 34 Q20.0 Q20.1
UMLS via Orphanet 70 C0013069
MESH via Orphanet 43 D004310
UMLS 69 C0013069

Summaries for Conotruncal Heart Malformations

UniProtKB/Swiss-Prot : 66 Conotruncal heart malformations: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.

MalaCards based summary : Conotruncal Heart Malformations, also known as conotruncal anomaly face syndrome, is related to double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis and double outlet right ventricle with non-committed subpulmonary ventricular septal defect, and has symptoms including hypertelorism, abnormality of metabolism/homeostasis and patent ductus arteriosus. An important gene associated with Conotruncal Heart Malformations is GDF1 (Growth Differentiation Factor 1), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Mesodermal Commitment Pathway. The drugs Hydroxocobalamin and Mechlorethamine have been mentioned in the context of this disorder. Affiliated tissues include Neural Crest and Head Mesenchyme, and related phenotypes are cardiovascular system and cellular

CDC : 3 The Tribal Advisory Committee (TAC) advises CDC/ATSDR on policy issues and broad strategies that may significantly affect American Indian/Alaska Native communities. The TAC will assist CDC/ATSDR in fulfilling its mission to promote health and quality of life by preventing and controlling disease, injury, and disability through established and ongoing relationships and consultation sessions.

Description from OMIM: 217095

Related Diseases for Conotruncal Heart Malformations

Diseases in the Conotruncal Heart Malformations family:

Cfc1-Related Conotruncal Heart Malformations

Diseases related to Conotruncal Heart Malformations via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)
id Related Disease Score Top Affiliating Genes
1 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 12.5
2 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 12.5
3 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 12.3
4 sacral meningocele conotruncal heart defects 12.2
5 cfc1-related conotruncal heart malformations 12.1
6 velocardiofacial syndrome 11.7
7 cor triatriatum 11.6
8 digeorge syndrome 11.4
9 beemer ertbruggen syndrome 11.3
10 microphthalmia microtia fetal akinesia 11.1
11 factor xi deficiency, autosomal recessive 11.1
12 pancreatic agenesis and congenital heart defects 11.0
13 sunct headache 11.0
14 emanuel syndrome 10.9
15 ventricular septal defect 10.7
16 transposition of the great arteries 10.5
17 tetralogy of fallot 10.5
18 pulmonic stenosis 10.4
19 complete atrioventricular canal 10.3
20 atrioventricular septal defect 10.3
21 dextrocardia 10.3
22 congenital diarrhea 7 with exudative enteropathy 10.3 CFC1 GDF1 NKX2-6
23 persistent eustachian valve 10.3 CRELD1 GATA4 GATA6
24 congenital benign spinal muscular atrophy dominant 10.3 CRELD1 GATA4 GATA6
25 pauciarticular chronic arthritis 10.3 CRELD1 GATA4 GATA6
26 right inferior vena cava connecting to left-sided atrium 10.3 CRELD1 GATA4
27 vulvar apocrine adenocarcinoma 10.2 CRELD1 GATA4 NKX2-6
28 left superior vena cava persisting to left-sided atrium 10.2 CRELD1 GATA4
29 aortopulmonary window 10.2
30 pentalogy of cantrell 10.2
31 vulvar sebaceous carcinoma 10.2 CRELD1 GATA4 GATA6 NKX2-6
32 paget disease, extramammary 10.2 CRELD1 GDF1 NKX2-5 NKX2-6 ZFPM2
33 mevalonic aciduria 10.2 CFC1 GDF1
34 emery-dreifuss muscular dystrophy 7, ad 10.2 MEF2A MEF2C NKX2-5
35 pericardium disease 10.2 CRELD1 GATA6 GDF1 NKX2-5 NKX2-6
36 macroglossia 10.2 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6
37 skull base neoplasm 10.2 GATA4 GATA6 ZFPM2
38 sudden infant death syndrome 10.2 MEF2A MEF2C NKX2-5
39 ectopia cordis 10.2
40 left ventricular outflow tract obstruction 10.2
41 situs inversus 10.2
42 aneurysm 10.2
43 partial fetal alcohol syndrome 10.1 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
44 heart disease 10.1
45 heterotaxy 10.1
46 dentine erosion 10.1 CITED2 GATA4 GATA6 NKX2-5 NKX2-6 TBX20
47 fetal alcohol syndrome 10.1 GATA4 GATA5 GATA6 NKX2-5 NKX2-6 PITX2
48 jmp syndrome 10.0 CFC1 GDF1 PITX2
49 optic nerve disease 10.0 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
50 criss-cross heart 10.0

Graphical network of the top 20 diseases related to Conotruncal Heart Malformations:



Diseases related to Conotruncal Heart Malformations

Symptoms & Phenotypes for Conotruncal Heart Malformations

Symptoms by clinical synopsis from OMIM:

217095

Clinical features from OMIM:

217095

Human phenotypes related to Conotruncal Heart Malformations:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 patent ductus arteriosus 32 HP:0001643
4 coarctation of aorta 32 HP:0001680
5 tetralogy of fallot 32 HP:0001636
6 truncus arteriosus 32 HP:0001660
7 abnormality of the aortic arch 32 HP:0012303
8 transposition of the great arteries 32 HP:0001669
9 pulmonary artery atresia 32 HP:0004935
10 broad hallux 32 HP:0010055
11 postaxial polydactyly 32 HP:0100259
12 double outlet right ventricle 32 HP:0001719
13 complete atrioventricular canal defect 32 HP:0001674

MGI Mouse Phenotypes related to Conotruncal Heart Malformations:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.43 NKX2-6 PITX2 PLXND1 TBX1 TBX20 ZFPM2
2 cellular MP:0005384 10.42 ZFPM2 CITED2 GATA4 GATA5 GATA6 GDF1
3 growth/size/body region MP:0005378 10.32 TBX20 UNCX CITED2 GATA4 GATA6 GDF1
4 mortality/aging MP:0010768 10.31 CITED2 GATA4 GATA5 GATA6 GDF1 ISL1
5 embryo MP:0005380 10.29 CITED2 GATA4 GATA6 GDF1 ISL1 MEF2C
6 homeostasis/metabolism MP:0005376 10.23 CITED2 GATA4 GATA5 GATA6 ISL1 NKX2-5
7 endocrine/exocrine gland MP:0005379 10.19 GATA4 GATA5 GDF1 ISL1 NKX2-5 PITX2
8 digestive/alimentary MP:0005381 10.18 GATA5 GDF1 ISL1 NKX2-5 PITX2 PLXND1
9 muscle MP:0005369 10.15 TBX20 ZFPM2 GATA4 GATA5 GATA6 ISL1
10 craniofacial MP:0005382 10.14 CITED2 GDF1 ISL1 MEF2C NKX2-5 PITX2
11 normal MP:0002873 10.1 CITED2 GATA4 GATA6 GDF1 ISL1 MEF2A
12 nervous system MP:0003631 10.06 UNCX CITED2 GATA4 GDF1 ISL1 MEF2A
13 limbs/digits/tail MP:0005371 10.03 CITED2 GATA4 GATA6 ISL1 MEF2C PITX2
14 respiratory system MP:0005388 9.73 CITED2 GATA4 GATA6 GDF1 MEF2A MEF2C
15 renal/urinary system MP:0005367 9.7 CITED2 GATA5 GDF1 ISL1 MEF2C PLXND1
16 skeleton MP:0005390 9.32 CITED2 GATA4 GATA5 GDF1 ISL1 MEF2C

Drugs & Therapeutics for Conotruncal Heart Malformations

Drugs for Conotruncal Heart Malformations (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved 13422-51-0 11953898 5460373 44475014
2
Mechlorethamine Approved 51-75-2 4033
3
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
4
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
5
leucovorin Approved, Nutraceutical 58-05-9 54575, 6560146 143
6 Vitamin B 12
7 Vitamin B Complex
8 Anticoagulants
9 Bone Density Conservation Agents
10 Calcium, Dietary
11 Chelating Agents
12 Hormones
13 Antithrombin III
14 Antithrombins
15 diuretics
16 Tin Fluorides
17
Cobalamin Nutraceutical 13408-78-1 6438156
18 Folate Nutraceutical
19
Methylcobalamin Experimental, Nutraceutical 13422-55-4
20 Vitamin B12 Nutraceutical
21 Vitamin B9 Nutraceutical
22 Citrate Nutraceutical
23
Citric Acid Nutraceutical, Vet_approved 77-92-9 311

Interventional clinical trials:

(show all 14)
id Name Status NCT ID Phase
1 COMPASSION S3 - Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve Dysfunction Recruiting NCT02744677 Phase 3
2 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
3 Conotruncal Cardiac Defects and Nutrigenetic Etiopathogeny Completed NCT01460316
4 Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects Completed NCT00004361
5 A Randomized Controlled Trial:Treatments on Infundibular Ventricular Septal Defect Completed NCT02361008
6 Genes Causing Ebstein's Anomaly Completed NCT00497705
7 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" Recruiting NCT02503267
8 Non-Invasive Chromosomal Evaluation of 22q11.2 Recruiting NCT02541058
9 Surgical Planning for Reconstruction of Complex Heart Defects Recruiting NCT00972608
10 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995
11 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708
12 National Congenital Heart Disease Audit Recruiting NCT02303535
13 Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction Active, not recruiting NCT02700100
14 Adult Pulmonary Valve Replacement: A Simple and Reproducible Technique Terminated NCT00384163

Search NIH Clinical Center for Conotruncal Heart Malformations

Cochrane evidence based reviews: double outlet right ventricle

Genetic Tests for Conotruncal Heart Malformations

Genetic tests related to Conotruncal Heart Malformations:

id Genetic test Affiliating Genes
1 Conotruncal Anomaly Face Syndrome 29 24
2 Conotruncal Heart Malformations 29
3 Double Outlet Right Ventricle 29
4 Truncus Arteriosus 29
5 Conotruncal Heart Malformations, Variable 24 NKX2-5
6 Double-Outlet Right Ventricle 24 GDF1

Anatomical Context for Conotruncal Heart Malformations

MalaCards organs/tissues related to Conotruncal Heart Malformations:

39
Heart, Skin
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Conotruncal Heart Malformations:
id Tissue Anatomical CompartmentCell Relevance
1 Neural Crest Cardiac Neural Crest Cardiac Neural Crest Cells Potential therapeutic candidate, affected by disease
2 Head Mesenchyme Branchial Arch 3,4,6 Cardiac Neural Crest Cells Potential therapeutic candidate, affected by disease
3 Heart Outflow Tract Neural Crest Outflow Tract Cells Potential therapeutic candidate, affected by disease
4 Heart Aorticopulmonary Septum Affected by disease
5 Heart Outflow Tract Cushion Affected by disease

Publications for Conotruncal Heart Malformations

Articles related to Conotruncal Heart Malformations:

id Title Authors Year
1
Do toxic metals and trace elements have a role in the pathogenesis of conotruncal heart malformations? ( 27751200 )
2016

Variations for Conotruncal Heart Malformations

UniProtKB/Swiss-Prot genetic disease variations for Conotruncal Heart Malformations:

66
id Symbol AA change Variation ID SNP ID
1 GATA6 p.Asn466His VAR_067388 rs387906813
2 GDF1 p.Cys267Tyr VAR_065335 rs121434423
3 NKX2-6 p.Phe151Leu VAR_063278 rs267606914
4 NKX2-6 p.Lys152Gln VAR_073164
5 NKX2-6 p.Val176Ala VAR_073165
6 TBX1 p.Phe148Tyr VAR_035025 rs28939675
7 ZFPM2 p.Glu30Gly VAR_017942 rs121908601
8 ZFPM2 p.Ile227Val VAR_072074 rs202204708

ClinVar genetic disease variations for Conotruncal Heart Malformations:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NKX2-6 NM_001136271.2(NKX2-6): c.451T> C (p.Phe151Leu) single nucleotide variant Pathogenic rs267606914 GRCh37 Chromosome 8, 23560419: 23560419
2 ZFPM2 NM_012082.3(ZFPM2): c.2107A> C (p.Met703Leu) single nucleotide variant Pathogenic rs121908603 GRCh37 Chromosome 8, 106814417: 106814417
3 GDF1 NM_001492.5(GDF1): c.800G> A (p.Cys267Tyr) single nucleotide variant Pathogenic rs121434423 GRCh37 Chromosome 19, 18979725: 18979725
4 NKX2-5 NKX2-5, 3-BP DEL, 871AAC deletion Pathogenic
5 GATA6 GATA6, 2-BP DEL, 1456GA deletion Pathogenic
6 GATA6 NM_005257.5(GATA6): c.1396A> C (p.Asn466His) single nucleotide variant Pathogenic rs387906813 GRCh37 Chromosome 18, 19761507: 19761507
7 ZFPM2 NM_012082.3(ZFPM2): c.681T> G (p.Ile227Met) single nucleotide variant Pathogenic rs397514520 GRCh37 Chromosome 8, 106801094: 106801094
8 ZFPM2 NM_012082.3(ZFPM2): c.2209A> G (p.Lys737Glu) single nucleotide variant Pathogenic rs397514521 GRCh37 Chromosome 8, 106814519: 106814519
9 NKX2-6 NM_001136271.2(NKX2-6): c.453_454insT (p.Lys152Terfs) insertion Pathogenic rs587777422 GRCh37 Chromosome 8, 23560416: 23560417

Expression for Conotruncal Heart Malformations

Search GEO for disease gene expression data for Conotruncal Heart Malformations.

Pathways for Conotruncal Heart Malformations

Pathways related to Conotruncal Heart Malformations according to GeneCards Suite gene sharing:

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.27 GATA4 GATA5 GATA6 NKX2-5
2
Show member pathways
12.25 AHDC1 GATA4 GATA6 PITX2 TBX1
3
Show member pathways
12.24 CFC1 GATA4 MEF2C NKX2-5
4 11.93 GATA4 GATA5 GATA6 ZFPM2
5 11.83 GATA4 ISL1 MEF2C NKX2-5
6 11.64 GATA4 MEF2C NKX2-5
7 11.18 GATA4 GATA6 ISL1 MEF2A MEF2C
8 11.08 GATA4 ISL1 MEF2C NKX2-5 TBX20
9 10.89 GATA4 GATA6 ISL1 MEF2C NKX2-5 PITX2
10 10.84 GATA4 MEF2C NKX2-5
11 10.55 MEF2A MEF2C NKX2-5
12 10.23 GATA4 NKX2-5

GO Terms for Conotruncal Heart Malformations

Cellular components related to Conotruncal Heart Malformations according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.8 CITED2 GATA4 GATA5 GATA6 ISL1 MEF2A
2 transcription factor complex GO:0005667 9.02 GATA5 GATA6 MEF2A NKX2-5 PITX2

Biological processes related to Conotruncal Heart Malformations according to GeneCards Suite gene sharing:

(show top 50) (show all 55)
id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.98 GATA4 GATA5 GATA6 ZFPM2
2 determination of left/right symmetry GO:0007368 9.91 CFC1 CITED2 PITX2 TBX1
3 positive regulation of angiogenesis GO:0045766 9.89 GATA4 GATA6 ISL1
4 male gonad development GO:0008584 9.89 GATA4 GATA6 PITX2
5 neuron migration GO:0001764 9.89 MEF2C PITX2 TBX20
6 muscle organ development GO:0007517 9.88 MEF2A MEF2C TBX1
7 heart looping GO:0001947 9.88 GATA4 MEF2C NKX2-5 TBX20
8 vasculogenesis GO:0001570 9.85 NKX2-5 PITX2 ZFPM2
9 heart morphogenesis GO:0003007 9.85 ISL1 NKX2-5 TBX1
10 ventricular septum morphogenesis GO:0060412 9.85 CITED2 NKX2-5 PITX2 ZFPM2
11 spleen development GO:0048536 9.83 CITED2 NKX2-5 PITX2
12 cardiac muscle tissue development GO:0048738 9.83 GATA6 NKX2-5 PITX2 ZFPM2
13 cardiac muscle cell differentiation GO:0055007 9.83 GATA4 GATA6 MEF2C NKX2-5 PITX2
14 branching involved in blood vessel morphogenesis GO:0001569 9.81 PITX2 PLXND1 TBX20
15 positive regulation of cardiac muscle cell proliferation GO:0060045 9.81 GATA6 MEF2C TBX20 ZFPM2
16 heart development GO:0007507 9.81 CITED2 ISL1 MEF2A MEF2C NKX2-5 NKX2-6
17 pharyngeal system development GO:0060037 9.8 ISL1 NKX2-5 NKX2-6 TBX1
18 embryonic heart tube development GO:0035050 9.79 NKX2-5 NKX2-6 TBX20
19 cardiac septum development GO:0003279 9.77 CRELD1 PLXND1 TBX20
20 cardiac right ventricle morphogenesis GO:0003215 9.77 GATA4 ISL1 TBX20
21 atrial septum morphogenesis GO:0060413 9.76 GATA4 ISL1 NKX2-5 TBX20
22 ventricular cardiac muscle cell development GO:0055015 9.75 NKX2-5 NKX2-6 PITX2
23 intestinal epithelial cell differentiation GO:0060575 9.73 GATA4 GATA5 GATA6
24 response to vitamin A GO:0033189 9.72 GATA4 PITX2
25 endocardial cushion morphogenesis GO:0003203 9.71 ISL1 TBX20
26 cardiac muscle hypertrophy in response to stress GO:0014898 9.71 GATA6 MEF2C
27 positive regulation of cardioblast differentiation GO:0051891 9.71 GATA4 GATA6 NKX2-5
28 smooth muscle cell differentiation GO:0051145 9.7 GATA6 MEF2C
29 left/right axis specification GO:0070986 9.7 CITED2 PITX2
30 cardiac muscle tissue morphogenesis GO:0055008 9.7 NKX2-5 TBX20
31 endocardial cushion development GO:0003197 9.69 CRELD1 GATA4
32 embryonic viscerocranium morphogenesis GO:0048703 9.69 MEF2C TBX1
33 cardiac ventricle morphogenesis GO:0003208 9.69 GATA4 NKX2-5
34 secondary heart field specification GO:0003139 9.68 ISL1 MEF2C
35 positive regulation of male gonad development GO:2000020 9.68 CITED2 ZFPM2
36 transdifferentiation GO:0060290 9.67 GATA4 MEF2C
37 cardiac ventricle formation GO:0003211 9.67 MEF2C NKX2-5
38 embryonic heart tube left/right pattern formation GO:0060971 9.66 CITED2 NKX2-5
39 atrial cardiac muscle cell development GO:0055014 9.65 NKX2-5 NKX2-6
40 ventricular cardiac myofibril assembly GO:0055005 9.65 MEF2A NKX2-5
41 pulmonary myocardium development GO:0003350 9.64 NKX2-5 PITX2
42 visceral motor neuron differentiation GO:0021524 9.64 ISL1 TBX20
43 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.63 NKX2-5 ZFPM2
44 pulmonary vein morphogenesis GO:0060577 9.62 PITX2 TBX20
45 outflow tract septum morphogenesis GO:0003148 9.43 GATA6 ISL1 NKX2-5 TBX1 TBX20 ZFPM2
46 outflow tract morphogenesis GO:0003151 9.17 CITED2 ISL1 MEF2C NKX2-5 PLXND1 TBX1
47 transcription, DNA-templated GO:0006351 10.36 CITED2 GATA4 GATA5 GATA6 MEF2A MEF2C
48 regulation of transcription, DNA-templated GO:0006355 10.32 CITED2 GATA4 GATA5 GATA6 ISL1 MEF2A
49 cell differentiation GO:0030154 10.2 CITED2 MEF2A MEF2C NKX2-5 NKX2-6 UNCX
50 multicellular organism development GO:0007275 10.18 CFC1 CITED2 ISL1 MEF2A MEF2C NKX2-5

Molecular functions related to Conotruncal Heart Malformations according to GeneCards Suite gene sharing:

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.97 GATA4 GATA6 NKX2-5 PITX2 ZFPM2
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.95 ISL1 MEF2A MEF2C NKX2-5 PITX2 TBX20
3 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.93 ISL1 MEF2A MEF2C NKX2-5 PITX2 TBX20
4 transcription regulatory region DNA binding GO:0044212 9.92 GATA4 GATA5 GATA6 MEF2C NKX2-5
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.91 GATA4 GATA5 GATA6 MEF2A MEF2C TBX20
6 chromatin binding GO:0003682 9.91 CITED2 GATA4 GATA5 GATA6 ISL1 MEF2A
7 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.89 GATA4 GATA6 MEF2A MEF2C PITX2
8 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.85 GATA4 GATA5 GATA6 NKX2-5
9 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.8 GATA5 GATA6 MEF2A MEF2C NKX2-5
10 RNA polymerase II activating transcription factor binding GO:0001102 9.73 ISL1 PITX2 TBX20
11 activating transcription factor binding GO:0033613 9.71 GATA4 MEF2A MEF2C
12 enhancer sequence-specific DNA binding GO:0001158 9.69 GATA4 GATA5 ISL1
13 RNA polymerase II transcription factor binding GO:0001085 9.63 GATA4 GATA5 GATA6 MEF2A TBX20 ZFPM2
14 RNA polymerase II transcription coactivator activity GO:0001105 9.43 CITED2 ISL1 MEF2A PITX2 TBX20 ZFPM2
15 sequence-specific DNA binding GO:0043565 9.36 GATA4 GATA5 GATA6 ISL1 MEF2A MEF2C
16 DNA binding GO:0003677 10.18 AHDC1 GATA4 GATA5 GATA6 ISL1 MEF2A
17 transcription factor activity, sequence-specific DNA binding GO:0003700 10.06 CITED2 GATA4 GATA5 GATA6 MEF2A MEF2C

Sources for Conotruncal Heart Malformations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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