MCID: CNT061
MIFTS: 61

Conotruncal Heart Malformations

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

Aliases & Classifications for Conotruncal Heart Malformations

MalaCards integrated aliases for Conotruncal Heart Malformations:

Name: Conotruncal Heart Malformations 54 50 71 29 69
Conotruncal Anomaly Face Syndrome 54 24 71 29 13 69
Double Outlet Right Ventricle 12 50 56 29 42 14
Persistent Truncus Arteriosus 54 38 50 71
Double-Outlet Right Ventricle 54 24 71
Tac 56 71 3
Double Outlet Right Ventricle with Subpulmonary Ventricular Septal Defect 12 56
Conotruncal Heart Malformations, Variable 54 24
Truncus Arteriosus Communis 71 29
Common Arterial Trunk 56 71
Truncus Arteriosus 56 29
Cthm 50 71
Dorv 56 71
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
Truncus Arteriosus, Persistent 42
Common Aorticopulmonary Trunk 56
Dextrotransposition of Aorta 12
Conotruncal Cardiac Defects 50
Dorv with Subpulmonary Vsd 56
Conotruncal Heart Defects 71
Taussig-Bing Syndrome 56
Dorv-Tga 56
Ctaf 24
Cafs 71
Cthd 71
Pta 71

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
UMLS via Orphanet 70 C0041207 C0013069 C1956412 more
ICD10 via Orphanet 34 Q20.0 Q20.1
MESH via Orphanet 43 D004310
UMLS 69 C0013069

Summaries for Conotruncal Heart Malformations

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 2445disease definitionconotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (dorv), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (tga) (see these terms), among others. this group of defects is frequently found in patients with 22q11.2 deletionsyndrome (see this term). a deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of dorv and tga where this is very uncommon).visit the orphanet disease page for more resources. last updated: 4/13/2015

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, patent ductus arteriosus and tetralogy of fallot. An important gene associated with Conotruncal Heart Malformations is GDF1 (Growth Differentiation Factor 1), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Human Embryonic Stem Cell Pluripotency. The drugs Hydroxocobalamin and Cyanocobalamin 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

UniProtKB/Swiss-Prot : 71 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.

CDC : 3 Summer 2017 CDC/ATSDR TAC Meeting and 17th Biannual Tribal Consultation Session

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 116)
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 12.1
5 cfc1-related conotruncal heart malformations 12.1
6 velocardiofacial syndrome 11.7
7 cor triatriatum 11.6
8 beemer ertbruggen syndrome 11.3
9 aortopulmonary window 11.2
10 ritscher-schinzel syndrome 1 11.2
11 factor xi deficiency, autosomal recessive 11.1
12 sunct headache 11.1
13 emanuel syndrome 10.9
14 isotretinoin embryopathy-like syndrome 10.9
15 chromosome 10p deletion 10.9
16 complete atrioventricular canal-left heart obstruction syndrome 10.7 CRELD1 GATA4
17 persistent eustachian valve 10.7 CRELD1 GATA4
18 inferior vena cava interruption 10.7 CRELD1 GATA4 GATA6
19 congenital diarrhea 7 with exudative enteropathy 10.6 CFC1 GDF1 NKX2-6
20 pasli disease 10.6 CRELD1 GATA4 GATA6
21 progressive multifocal leukoencephalopathy 10.6 CRELD1 GATA4 NKX2-6
22 cloacal exstrophy 10.6 NKX2-6 TBX1
23 idiopathic recurrent pericarditis 10.5 GATA4 ZFPM2
24 cervical serous adenocarcinoma 10.5 CRELD1 GATA4 GATA6 NKX2-6
25 emery-dreifuss muscular dystrophy 7, ad 10.5 MEF2A MEF2C NKX2-5
26 fleck retina of kandori 10.5 CRELD1 NKX2-6
27 skull base neoplasm 10.5 GATA4 GATA6 ZFPM2
28 x-linked sideroblastic anemia with ataxia 10.4 CFC1 GDF1 PITX2
29 artery disease 10.4 CRELD1 GATA6 GDF1 NKX2-5 NKX2-6
30 macroglossia 10.4 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6
31 sudden infant death syndrome 10.4 MEF2A MEF2C NKX2-5
32 vitelliform macular dystrophy 10.3 GATA4 GATA6 NKX2-5 NKX2-6 PITX2
33 ascending cholangitis 10.3 GDF1 NKX2-6
34 takayasu arteritis 10.2 CRELD1 GDF1 MESP1 NKX2-5 NKX2-6 ZFPM2
35 tricuspid atresia 10.2
36 optic nerve disease 10.2 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6 TBX20
37 dentine erosion 10.1 CITED2 GATA4 GATA6 NKX2-5 NKX2-6 TBX20
38 fetal alcohol syndrome 10.1 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
39 transposition of the great arteries 10.1
40 heart disease 10.0
41 right aortic arch 10.0
42 atrioventricular septal defect 10.0
43 ischemia 9.9
44 leukemia 9.9
45 malignant pineal area germ cell neoplasm 9.9 CITED2 GATA4 GATA6 GDF1 ISL1 NKX2-5
46 rheumatoid arthritis 9.9
47 arthritis 9.9
48 breast cancer 9.9
49 limb ischemia 9.9
50 critical limb ischemia 9.9

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



Diseases related to Conotruncal Heart Malformations

Symptoms & Phenotypes for Conotruncal Heart Malformations

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 occasional (7.5%) HP:0000316
2 patent ductus arteriosus 32 frequent (33%) HP:0001643
3 tetralogy of fallot 32 hallmark (90%) HP:0001636
4 coarctation of aorta 32 HP:0001680
5 broad hallux 32 HP:0010055
6 postaxial polydactyly 32 HP:0100259
7 double outlet right ventricle 32 HP:0001719
8 transposition of the great arteries 32 hallmark (90%) HP:0001669
9 truncus arteriosus 32 HP:0001660
10 pulmonary artery atresia 32 frequent (33%) HP:0004935
11 abnormality of metabolism/homeostasis 32 HP:0001939
12 abnormality of the aortic arch 32 frequent (33%) HP:0012303
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 TBX20 ZFPM2 CITED2 GATA4 GATA6 GDF1
2 cellular MP:0005384 10.42 GATA4 GATA6 GDF1 ISL1 MEF2A MEF2C
3 growth/size/body region MP:0005378 10.35 CITED2 GATA4 GATA6 GDF1 ISL1 MEF2A
4 embryo MP:0005380 10.32 CITED2 GATA4 GATA6 GDF1 ISL1 MEF2C
5 mortality/aging MP:0010768 10.27 ZFPM2 CITED2 GATA4 GATA6 GDF1 ISL1
6 homeostasis/metabolism MP:0005376 10.21 ZFPM2 CITED2 GATA4 GATA6 ISL1 MESP1
7 craniofacial MP:0005382 10.19 CITED2 GDF1 ISL1 MEF2C MESP1 NKX2-5
8 endocrine/exocrine gland MP:0005379 10.19 GATA4 GDF1 ISL1 MESP1 NKX2-5 PITX2
9 hematopoietic system MP:0005397 10.16 CITED2 GATA4 GATA6 GDF1 MEF2C MESP1
10 digestive/alimentary MP:0005381 10.13 CITED2 GATA4 GDF1 ISL1 NKX2-5 PITX2
11 muscle MP:0005369 10.1 GATA4 GATA6 ISL1 MEF2A MEF2C MESP1
12 nervous system MP:0003631 10.03 CITED2 GATA4 GDF1 ISL1 MEF2A MEF2C
13 normal MP:0002873 10.03 TBX20 ZFPM2 CITED2 GATA4 GATA6 GDF1
14 limbs/digits/tail MP:0005371 10.01 CITED2 GATA4 GATA6 ISL1 MEF2C PITX2
15 respiratory system MP:0005388 9.77 CITED2 GATA4 GATA6 GDF1 MEF2A MEF2C
16 skeleton MP:0005390 9.36 ISL1 MEF2C MESP1 MOSPD1 PITX2 PLXND1

Drugs & Therapeutics for Conotruncal Heart Malformations

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

(show all 18)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved 13422-51-0 11953898 5460373 44475014
2
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
3
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
4
leucovorin Approved, Nutraceutical 58-05-9 143 6006
5 Vitamin B 12
6 Vitamin B Complex
7 Anticoagulants
8 Bone Density Conservation Agents
9 Calcium, Dietary
10 Chelating Agents
11 Hormones
12
Cobalamin Nutraceutical 13408-78-1 6438156
13 Folate Nutraceutical
14
Methylcobalamin Experimental, Nutraceutical 13422-55-4
15 Vitamin B12 Nutraceutical
16 Vitamin B9 Nutraceutical
17 Citrate Nutraceutical
18
Citric Acid Nutraceutical, Vet_approved 77-92-9 311

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
2 Conotruncal Cardiac Defects and Nutrigenetic Etiopathogeny Completed NCT01460316
3 Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects Completed NCT00004361 calcium gluconate;sodium citrate

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 Truncus Arteriosus Communis 29
6 Double-Outlet Right Ventricle 24 GDF1
7 Conotruncal Heart Malformations, Variable 24 NKX2-5

Anatomical Context for Conotruncal Heart Malformations

MalaCards organs/tissues related to Conotruncal Heart Malformations:

39
Heart, Bone, 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:

71
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

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 9.5 CITED2 GATA4 GATA6 ISL1 MEF2A MEF2C
2 transcription factor complex GO:0005667 9.26 GATA6 MEF2A NKX2-5 PITX2

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

(show top 50) (show all 59)
id Name GO ID Score Top Affiliating Genes
1 determination of left/right symmetry GO:0007368 9.94 CFC1 CITED2 PITX2 TBX1
2 heart morphogenesis GO:0003007 9.91 ISL1 MESP1 NKX2-5 TBX1
3 positive regulation of angiogenesis GO:0045766 9.9 GATA4 GATA6 ISL1
4 neuron migration GO:0001764 9.9 MEF2C PITX2 TBX20
5 muscle organ development GO:0007517 9.89 MEF2A MEF2C TBX1
6 in utero embryonic development GO:0001701 9.88 GATA6 PITX2 ZFPM2
7 positive regulation of cardiac muscle cell proliferation GO:0060045 9.88 GATA6 MEF2C TBX20 ZFPM2
8 ventricular septum morphogenesis GO:0060412 9.87 CITED2 NKX2-5 PITX2 ZFPM2
9 spleen development GO:0048536 9.86 CITED2 NKX2-5 PITX2
10 male gonad development GO:0008584 9.83 GATA4 GATA6 PITX2
11 branching involved in blood vessel morphogenesis GO:0001569 9.83 PITX2 PLXND1 TBX20
12 cardiac muscle tissue development GO:0048738 9.83 GATA6 NKX2-5 PITX2 ZFPM2
13 heart looping GO:0001947 9.83 GATA4 MEF2C MESP1 NKX2-5 TBX20
14 embryonic heart tube development GO:0035050 9.82 NKX2-5 NKX2-6 TBX20
15 pharyngeal system development GO:0060037 9.81 ISL1 NKX2-5 NKX2-6 TBX1
16 heart development GO:0007507 9.81 CITED2 ISL1 MEF2A MEF2C NKX2-5 NKX2-6
17 cardiac right ventricle morphogenesis GO:0003215 9.8 GATA4 ISL1 TBX20
18 vasculogenesis GO:0001570 9.8 NKX2-5 PITX2 ZFPM2
19 cardiac septum development GO:0003279 9.79 CRELD1 PLXND1 TBX20
20 ventricular cardiac muscle cell development GO:0055015 9.77 NKX2-5 NKX2-6 PITX2
21 secondary heart field specification GO:0003139 9.76 ISL1 MEF2C MESP1
22 atrial septum morphogenesis GO:0060413 9.76 GATA4 ISL1 NKX2-5 TBX20
23 cardiac ventricle formation GO:0003211 9.73 MEF2C MESP1 NKX2-5
24 cardiac muscle cell differentiation GO:0055007 9.73 GATA4 GATA6 MEF2C MESP1 NKX2-5 PITX2
25 response to vitamin A GO:0033189 9.72 GATA4 PITX2
26 endocardial cushion morphogenesis GO:0003203 9.72 ISL1 TBX20
27 smooth muscle cell differentiation GO:0051145 9.72 GATA6 MEF2C
28 positive regulation of cardioblast differentiation GO:0051891 9.72 GATA4 GATA6 NKX2-5
29 cardiac muscle hypertrophy in response to stress GO:0014898 9.71 GATA6 MEF2C
30 left/right axis specification GO:0070986 9.71 CITED2 PITX2
31 cardiac muscle tissue morphogenesis GO:0055008 9.71 NKX2-5 TBX20
32 embryonic viscerocranium morphogenesis GO:0048703 9.71 MEF2C TBX1
33 cardiac ventricle morphogenesis GO:0003208 9.71 GATA4 NKX2-5
34 embryonic heart tube morphogenesis GO:0003143 9.7 MESP1 TBX20
35 positive regulation of male gonad development GO:2000020 9.7 CITED2 ZFPM2
36 transdifferentiation GO:0060290 9.7 GATA4 MEF2C
37 intestinal epithelial cell differentiation GO:0060575 9.69 GATA4 GATA6
38 blood vessel development GO:0001568 9.69 MEF2C TBX1
39 embryonic heart tube left/right pattern formation GO:0060971 9.69 CITED2 NKX2-5
40 cardiac cell fate determination GO:0060913 9.68 ISL1 MESP1
41 pulmonary myocardium development GO:0003350 9.68 NKX2-5 PITX2
42 cardiac vascular smooth muscle cell differentiation GO:0060947 9.67 GATA6 MESP1
43 atrial cardiac muscle cell development GO:0055014 9.67 NKX2-5 NKX2-6
44 ventricular cardiac myofibril assembly GO:0055005 9.67 MEF2A NKX2-5
45 visceral motor neuron differentiation GO:0021524 9.66 ISL1 TBX20
46 pulmonary vein morphogenesis GO:0060577 9.65 PITX2 TBX20
47 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.65 NKX2-5 ZFPM2
48 endocardial cushion development GO:0003197 9.61 CRELD1 GATA4
49 outflow tract septum morphogenesis GO:0003148 9.43 GATA6 ISL1 NKX2-5 TBX1 TBX20 ZFPM2
50 outflow tract morphogenesis GO:0003151 9.17 CITED2 ISL1 MEF2C NKX2-5 PLXND1 TBX1

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.98 ISL1 MEF2A MEF2C MESP1 NKX2-5 PITX2
2 transcription factor binding GO:0008134 9.95 GATA4 GATA6 NKX2-5 PITX2 ZFPM2
3 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.95 ISL1 MEF2A MEF2C MESP1 NKX2-5 PITX2
4 transcription regulatory region DNA binding GO:0044212 9.92 GATA4 GATA6 MEF2C MESP1 NKX2-5
5 chromatin binding GO:0003682 9.92 CITED2 GATA4 GATA6 ISL1 MEF2A MEF2C
6 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.91 GATA4 GATA6 MEF2A MEF2C TBX20
7 transcription factor activity, sequence-specific DNA binding GO:0003700 9.9 CITED2 GATA4 GATA6 MEF2A MEF2C MESP1
8 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.89 GATA4 GATA6 MEF2A MEF2C PITX2
9 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.78 GATA6 MEF2A MEF2C NKX2-5
10 activating transcription factor binding GO:0033613 9.71 GATA4 MEF2A MEF2C
11 RNA polymerase II transcription factor binding GO:0001085 9.65 GATA4 GATA6 MEF2A TBX20 ZFPM2
12 sequence-specific DNA binding GO:0043565 9.65 GATA4 GATA6 ISL1 MEF2A MEF2C NKX2-5
13 RNA polymerase II activating transcription factor binding GO:0001102 9.63 ISL1 PITX2 TBX20
14 RNA polymerase II transcription coactivator activity GO:0001105 9.1 CITED2 ISL1 MEF2A PITX2 TBX20 ZFPM2
15 DNA binding GO:0003677 10.18 AHDC1 GATA4 GATA6 ISL1 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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