ASD
MCID: INT276
MIFTS: 50

Interatrial Communication (ASD)

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Interatrial Communication

MalaCards integrated aliases for Interatrial Communication:

Name: Interatrial Communication 58 6
Interauricular Communication 58
Atrial Septal Defect 58
Asd 58

Characteristics:

Orphanet epidemiological data:

58
interatrial communication
Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 D006344
ICD10 via Orphanet 33 Q21.1
UMLS via Orphanet 71 C0018817 C2609256
Orphanet 58 ORPHA1478

Summaries for Interatrial Communication

MalaCards based summary : Interatrial Communication, also known as interauricular communication, is related to atrial septal defect 4 and atrial septal defect 5. An important gene associated with Interatrial Communication is ACTC1 (Actin Alpha Cardiac Muscle 1), and among its related pathways/superpathways are Cardiac conduction and DREAM Repression and Dynorphin Expression. The drugs Clopidogrel and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include heart and eye, and related phenotypes are cardiovascular system and growth/size/body region

Related Diseases for Interatrial Communication

Diseases related to Interatrial Communication via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 737)
# Related Disease Score Top Affiliating Genes
1 atrial septal defect 4 32.3 TLL1 TBX20
2 atrial septal defect 5 32.2 TLL1 TBX20 NKX2-5 LOC101928174 ACTC1
3 hypoplastic right heart syndrome 32.0 TBX5 TBX20 NKX2-5
4 congenital heart defects, multiple types, 4 32.0 GATA6 GATA4
5 holt-oram syndrome 31.2 TBX5 TBX20 NKX2-5 MYH6 GATA4
6 atrial standstill 1 30.8 MYH6 LOC101928174 DMD ACTC1
7 total anomalous pulmonary venous return 1 30.8 TBX5 NKX2-5 GATA4
8 dextro-looped transposition of the great arteries 30.6 TBX5 NKX2-5 GATA4
9 partial atrioventricular canal 30.6 GATA6 GATA4
10 aortic valve disease 2 30.4 TBX5 NKX2-5 MYH6 GATA4
11 wolff-parkinson-white syndrome 30.2 TBX20 NKX2-5 MYH6 LOC101928174 ACTC1
12 diaphragmatic hernia, congenital 30.0 TBX5 GATA6 GATA4
13 ebstein anomaly 30.0 TBX5 TBX20 NKX2-5 MYH6 GATA4 ACTC1
14 atrioventricular block 30.0 TBX5 NKX2-5 GATA4
15 pulmonary valve stenosis 30.0 TBX5 TBX20 NKX2-5 GATA4
16 hypoplastic left heart syndrome 30.0 TBX5 TBX20 NKX2-5 MYH6 GATA6 GATA4
17 lipoprotein quantitative trait locus 30.0 TBX5 TBX20 NKX2-5 MYH6 GATA4 ACTC1
18 inguinal hernia 29.9 GATA6 GATA4 ACTL6A
19 atrioventricular septal defect 29.9 TBX5 TBX20 NKX2-5 MYH6 GATA6 GATA4
20 pulmonary valve disease 29.9 TBX5 NKX2-5 GATA6 GATA4
21 tricuspid atresia 29.9 TBX5 TBX20 NKX2-5 GATA6 GATA4
22 pancreatic agenesis 29.9 GATA6 GATA4 ABCC8
23 atrial septal defect 2 29.8 TBX5 TBX20 NKX2-5 GATA4
24 sinoatrial node disease 29.6 TBX5 NKX2-5 MYH6
25 heart septal defect 29.4 TBX5 TBX20 NKX2-5 MYH6 GATA6 GATA4
26 atrial septal defect 6 29.4 TLL1 TBX20
27 aortic valve disease 1 29.3 TBX5 TBX20 NKX2-5 MYH6 GATA6 GATA4
28 ventricular septal defect 29.2 TBX5 NKX2-5 GATA6 GATA4 CITED2 CHD7
29 left ventricular noncompaction 29.2 TBX5 TBX20 NKX2-5 MYH6 LOC101928174 GATA4
30 patent foramen ovale 29.1 TLL1 TBX5 TBX20 NKX2-5 MYH6 GATA6
31 patent ductus arteriosus 1 29.0 TBX5 TBX20 NKX2-5 MYH6 GATA6 GATA4
32 digeorge syndrome 28.9 TBX5 TBX20 NKX2-5 GATA4 CHD7
33 dilated cardiomyopathy 28.9 TBX5 TBX20 NKX2-5 MYH6 LOC101928174 GATA6
34 double outlet right ventricle 28.9 TBX5 TBX20 NKX2-5 MYH6 GATA6 GATA4
35 hypertrophic cardiomyopathy 28.8 NKX2-5 MYH6 LOC101928174 GATA6 GATA4 DMD
36 tetralogy of fallot 28.6 TBX5 TBX20 NKX2-5 MYH6 GATA6 GATA4
37 heart disease 27.8 TBX5 TBX20 NKX2-5 MYH6 GATA6 GATA4
38 atrial heart septal defect 26.9 TLL1 TBX5 TBX20 RPL5 NKX2-5 MYH6
39 tarp syndrome 11.9
40 atrial septal defect 3 11.8
41 atrial septal defect 9 11.8
42 atrial septal defect 8 11.8
43 autism spectrum disorder 11.8
44 neutropenia, severe congenital, 4, autosomal recessive 11.5
45 autism 11.4
46 irons bhan syndrome 11.4
47 shashi-pena syndrome 11.4
48 cardiofaciocutaneous syndrome 1 11.3
49 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations 11.3
50 lymphedema, cardiac septal defects, and characteristic facies 11.3

Graphical network of the top 20 diseases related to Interatrial Communication:



Diseases related to Interatrial Communication

Symptoms & Phenotypes for Interatrial Communication

MGI Mouse Phenotypes related to Interatrial Communication:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 ACTC1 CHD7 CITED2 CREBBP DMD GATA4
2 growth/size/body region MP:0005378 10.25 ABCC8 ACTC1 CHD7 CITED2 CREBBP DMD
3 cellular MP:0005384 10.22 ACTC1 ACTL6A CHD7 CREBBP DMD GATA4
4 homeostasis/metabolism MP:0005376 10.21 ABCC8 ACTC1 CHD7 CITED2 CREBBP DIPK1A
5 hematopoietic system MP:0005397 10.18 ACTC1 ACTL6A CHD7 CITED2 CREBBP DIPK1A
6 embryo MP:0005380 10.13 ACTC1 CHD7 CITED2 CREBBP GATA4 GATA6
7 mortality/aging MP:0010768 10.1 ACTC1 ACTL6A CHD7 CITED2 CREBBP DMD
8 endocrine/exocrine gland MP:0005379 10.06 ABCC8 CHD7 CITED2 CREBBP DMD GATA4
9 craniofacial MP:0005382 10.05 ACTC1 CHD7 CITED2 CREBBP NKX2-5 TBX20
10 digestive/alimentary MP:0005381 10.04 CHD7 CITED2 CREBBP DMD GATA4 NKX2-5
11 limbs/digits/tail MP:0005371 9.92 CHD7 CITED2 CREBBP DMD GATA4 GATA6
12 muscle MP:0005369 9.9 ACTC1 CHD7 CREBBP DMD GATA4 GATA6
13 normal MP:0002873 9.61 ACTC1 CITED2 CREBBP DMD GATA4 GATA6
14 respiratory system MP:0005388 9.23 CHD7 CITED2 CREBBP DMD GATA4 GATA6

Drugs & Therapeutics for Interatrial Communication

Drugs for Interatrial Communication (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
2
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
3
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
4
Racepinephrine Approved Phase 4 329-65-7 838
5
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
6
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
7 Neurotransmitter Agents Phase 4
8 Purinergic P2Y Receptor Antagonists Phase 4
9 Platelet Aggregation Inhibitors Phase 4
10 Pharmaceutical Solutions Phase 4
11 Epinephryl borate Phase 4
12 Anesthetics Phase 4
13 Carticaine Phase 4
14 Anesthetics, Local Phase 4
15
Dalteparin Approved 9005-49-6
16
Heparin Approved, Investigational 9005-49-6 772 9812414
17
Enoxaparin Approved 9005-49-6 772
18
Tinzaparin Approved 9041-08-1, 9005-49-6 25244225
19
Bosentan Approved, Investigational 147536-97-8 104865
20 Anticoagulants
21 Fibrinolytic Agents
22 Heparin, Low-Molecular-Weight
23 calcium heparin
24 Sildenafil Citrate 171599-83-0
25
Nickel 7440-02-0 934

Interventional clinical trials:

(show all 40)
# Name Status NCT ID Phase Drugs
1 Clopidogrel On Top of Aspirin For the Prevention of New Onset Migraine Headache Occurrence Following Transcatheter Closure of Atrial Septal Defects: A Prospective Randomized Trial (the CANOA Study) Completed NCT00799045 Phase 4 Clopidogrel
2 Comparison of Periosteal and Subcutaneous Infusions of Articaine and Bupivacaine in Treatment of Acute Pain After Sternotomy Suspended NCT01536717 Phase 4 Articaine hydrochloride 2% solution;Sodium Chloride
3 Medtronic Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF)/Permanent Study Completed NCT00431834 Phase 3
4 Medtronic Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF)/Persistent Study Completed NCT00506493 Phase 3
5 Iatrogenic Atrial Septal Defect Study Recruiting NCT04395027 Phase 3
6 Phase IB Double Blind, Randomized, Placebo Controlled Clinical Trial to Determine the Pharmacokinetics and Safety of a Revised Protocol of Intravenous L-Citrulline (Citrupress®) Versus Placebo in Children Undergoing Cardiopulmonary Bypass Completed NCT01120964 Phase 1, Phase 2 Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline
7 Utilization of Confocal Microscopy During Cardiac Surgery Completed NCT03189134 Phase 1 Fluorescite
8 The Effect of the Iatrogenic Atrial Septal Defect After MitraClip Procedure on the Hemodynamic Outcome Unknown status NCT02453451
9 Random, Controlled, Single-blinded, Multi-center and Non-inferiority Clinical Study to Evaluate Safety and Effectiveness of XenoSure Biological Patch in the Application of Cardiac Repair Unknown status NCT03176225
10 International Registry for Secundum Atrial Septal Defects Closure by Using the Occlutech®Flex II Device in More Than 2000 Patients Unknown status NCT02766569
11 Occluder Size Determination in Transcatheter Closure of Ostium Secundum Atrial Septal Defect Based on Three-Dimensional Echocardiography Assessment Unknown status NCT02601768
12 A Multicentre, Randomized Controlled Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046 Low molecular weight heparin
13 Shunt Quantification in Atrial Septal Defect Using Inert Gas Rebreathing and Thoracic Bioimpedance: Comparison With the Gold Standard Method Unknown status NCT03437148
14 A Prospective, Multi-center Study to Evaluate the Safety and Performance of the Hyperion™ ASD and PDA Closure Systems. Unknown status NCT02220270
15 European CURE-AF Study - Concomitant Utilization of Radiofrequency Energy for Atrial Fibrillation Completed NCT04645615
16 Prospective Multicenter Clinical Study to Evaluate the Safety and Effectiveness of an Intracardiac Septal Closure Device in Patients With Atrial Septum Defect (ASD) and Patent Foramen Ovale (PFO) Completed NCT00207376
17 Imaging of Atrial Septal Defects by Velocity Encoded Cardiovascular Magnetic Resonance Completed NCT00498446
18 Atrial Septal Defect - Exercise Capacity and Pulmonary Hypertension Completed NCT03565471
19 Prospective Single Center Pilot Clinical Study to Evaluate the Safety and Effectiveness of an Intracardiac Septal Closure Device With Biodegradable Framework in Patients With Clinically Significant Atrial Septum Defect (ASD) or Patent Foramen Ovale (PFO) Completed NCT01960491
20 Closure of Atrial Septal Defects With the AMPLATZER Septal Occluder - Post Approval Study Completed NCT00650936
21 Case Report: Resolution of Pulmonary Hypertension With Sildenafil and Bosentan in Patients With Trisomy 21 and Atrial Septal Defect Completed NCT00478296
22 Cardiac Troponin T After Transcatheter Closure of the Interatrial Septum Completed NCT03099967
23 GORE® Septal Occluder Clinical Study: A Study to Evaluate Safety and Efficacy in the Treatment of Transcatheter Closure of Ostium Secundum Atrial Septal Defects (ASDs) Completed NCT01711983
24 Integration of Three-dimensional Echocardiography and Fluoroscopy Imaging During the Percutaneous Closure of intAtrial Septal Defects in Children: CIA-3D-navigator. Completed NCT02529111
25 Prospective Mono-center Clinical Study to Evaluate the Safety and Effectiveness of an Intracardiac Septal Closure Device in Patients With Atrial Septum Defect (ASD) Completed NCT00353509
26 Prospective, Monocentric Study for the Evaluation of Latent Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions Lost to Follow-up. Completed NCT02552485
27 A Randomized, Controlled,Multi-Centre Trial of the Efficacy and Safety of the Occlutech Septal Occluder(Figulla Flex II) Compared to the AGA Septal Occluder(Amplatzer ASO) for Transcatheter Closure of Secundum ASD in Patients Completed NCT04488120
28 GORE® HELEX® Septal Occluder Post-Approval Study Completed NCT00581308
29 Efficacy of Three Dimensional Transesophageal Echocardiography for Percutaneous Device Closure in Atrial Septal Defect Recruiting NCT02097758
30 Assessment of Left and Right Ventricular Strain and Strain Rate Before and After Percutaneous Closure of Atrial Septal Defects in Adults and Adolescents Recruiting NCT04091919
31 A Randomized Multicenter Comparison Trial to Evaluate the Effectiveness and Safety of the Guidewire for Echo-guided Interventions in Treating ASD Recruiting NCT04096924
32 Evaluation of the Safety and Efficacy of the reSept ASD Occluder to Treat Patients With Clinically Significant Secundum Atrial Septal Defect Recruiting NCT04591392
33 GORE® CARDIOFORM ASD Occluder Clinical Study: A Study to Evaluate Safety and Efficacy in the Treatment of Transcatheter Closure of Ostium Secundum Atrial Septal Defects (ASDs) - The Gore ASSURED Clinical Study Active, not recruiting NCT02985684
34 Multi Centre, International, Post Market Registry to Monitor the Clinical Performance and Safety of an Atrial Septal Closure Device With Bioresorbable Framework in Patients With Clinically Significant Atrial Septum Defect (ASD) or Patent Foramen Ovale (PFO) in Routine Clinical Use Active, not recruiting NCT04105595
35 Comparative Effectiveness of Three Devices for Transcatheter Closure of Atrial Septal Defects for Adults: A Pilot Study (Trio-ASD) Not yet recruiting NCT04291898
36 The Canadian Registry for Adults With Congenital Heart Disease Interventions Not yet recruiting NCT04288596
37 A Prospective Investigation of Pleth Variability Index (PVI) as a Dynamic Parameter of Fluid Responsiveness in Children Terminated NCT02276599
38 Closure of Atrial Septal Defects With the AMPLATZER™ Septal Occluder (ASO) Post Market Surveillance Study Terminated NCT02353351
39 Nickel Allergy With Septal Occluder Using Amplatzer and Helex Devices (NASAH) Trial Terminated NCT01068366
40 Outcomes of Transcatheter Closure of Secundum Atrial Septal Defect Guided by Three-dimensional Transesophageal Echocardiography Withdrawn NCT03867708

Search NIH Clinical Center for Interatrial Communication

Genetic Tests for Interatrial Communication

Anatomical Context for Interatrial Communication

MalaCards organs/tissues related to Interatrial Communication:

40
Heart, Eye

Publications for Interatrial Communication

Articles related to Interatrial Communication:

(show top 50) (show all 629)
# Title Authors PMID Year
1
A cardiac α-actin (ACTC1) p. Gly247Asp mutation inhibits SRF-signaling in vitro in neonatal rat cardiomyocytes. 6
31434612 2019
2
Cardiac α-Actin (ACTC1) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy. 6
31430208 2019
3
Novel phenotype-genotype correlations of hypertrophic cardiomyopathy caused by mutation in α-actin and myosin-binding protein genes in three unrelated Chinese families. 6
30600190 2019
4
Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects. 6
28359939 2017
5
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 6
27532257 2017
6
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
7
Using baculovirus/insect cell expressed recombinant actin to study the molecular pathogenesis of HCM caused by actin mutation A331P. 6
24793351 2014
8
Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies. 6
24736382 2014
9
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 6
23283745 2013
10
Subdomain location of mutations in cardiac actin correlate with type of functional change. 6
22590617 2012
11
Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse. 6
21622575 2011
12
A novel mutation of GATA4 in a familial atrial septal defect. 6
20659440 2010
13
A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 6
20631719 2010
14
A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect. 6
20347099 2010
15
A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. 6
19762328 2010
16
Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. 6
19799913 2010
17
Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. 6
18830233 2009
18
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
19
Alpha-cardiac actin mutations produce atrial septal defects. 6
17947298 2008
20
GATA4 sequence variants in patients with congenital heart disease. 6
18055909 2007
21
Spectrum of heart disease associated with murine and human GATA4 mutation. 6
17643447 2007
22
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 6
17611253 2007
23
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. 6
17668378 2007
24
Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy. 6
16611632 2006
25
Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. 6
16287139 2005
26
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 6
15810002 2005
27
Mutation in myosin heavy chain 6 causes atrial septal defect. 6
15735645 2005
28
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. 6
12845333 2003
29
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 6
10966831 2000
30
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. 6
9563954 1998
31
Late survival in Ellis-van Creveld syndrome with common single atrium. 61
33762274 2021
32
Transcatheter creation of a pulmonary artery to left atrial fenestration in a failing Fontan circulation using the Atrial Flow Regulator (AFR). 61
33766177 2021
33
Safety of Transseptal Puncture for Access to the Left Atrium in Infants and Children. 61
33454819 2021
34
Does persistent (patent) foramen ovale closure reduce the risk of recurrent decompression sickness in scuba divers? 61
33761542 2021
35
Para-aortic channel in congenital heart disease: computed tomography and transoesophageal echography depiction of an undescribed type of interatrial communication. 61
33393631 2021
36
Newly-found channels in the interatrial septum of the heart by dissection, histologic evaluation, and three-dimensional microcomputed tomography. 61
33556133 2021
37
Posture Dependent Hypoxia Following Lobectomy: The Achilles Tendon of the Lung Surgeon? 61
33263463 2020
38
Migration and Surgical Retrieval of an Amplatzer Septal Occluder into Abdominal Aorta. 61
32502671 2020
39
A rare case of total anomalous pulmonary venous connection with intact interatrial septum. 61
33061166 2020
40
Identification and Morphogenesis of Vestibular Atrial Septal Defects. 61
32927616 2020
41
Outcomes of Atrioseptostomy with Stenting in Patients with Pulmonary Arterial Hypertension from a Large Single-Institution Cohort. 61
32967148 2020
42
Percutaneous closure of an atrial septal defect in a patient with Ebstein anomaly and right-to-left shunt. 61
32763099 2020
43
Pulmonary haemodynamic effects of interatrial shunt in heart failure with preserved ejection fraction: a preclinical study. 61
31062698 2020
44
Prevalence and Outcomes of Balloon Atrial Septostomy in Neonates With Transposition of Great Arteries. 61
31688810 2020
45
Atrial septum stenting in a foetus with hypoplastic left heart syndrome and restrictive foramen ovale: an alternative to emergency atrioseptectomy in the newborn-a case report. 61
32128498 2020
46
The morphogenesis and associated anomalous pulmonary venous drainage in sinus venosus defect. 61
31362863 2020
47
Graded balloon atrial septostomy for palliation of congenital pulmonary hypertension in a dog: A case report. 61
31769097 2020
48
Genomic Characterization of a Rare, de Novo Unbalanced ins(3;1)(p25.3;q21.3q23.3) in a Female Child with Multiple Congenital Anomalies. 61
33152732 2020
49
Use of virtual reality for pre-surgical planning in separation of conjoined twins: A case report. 61
31554483 2019
50
Tetralogy of Fallot With Interatrial Communication of the Inferior Sinus Venosus Type: A Rare Association Causing Post-Operative Desaturation. 61
31701832 2019

Variations for Interatrial Communication

ClinVar genetic disease variations for Interatrial Communication:

6 (show top 50) (show all 270)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TLL1 NM_012464.5(TLL1):c.544A>C (p.Met182Leu) SNV Pathogenic 4074 rs137852951 GRCh37: 4:166916242-166916242
GRCh38: 4:165995090-165995090
2 TLL1 NM_012464.5(TLL1):c.713T>C (p.Val238Ala) SNV Pathogenic 4075 rs137852952 GRCh37: 4:166924623-166924623
GRCh38: 4:166003471-166003471
3 TLL1 NM_012464.5(TLL1):c.1885A>G (p.Ile629Val) SNV Pathogenic 4076 rs137852953 GRCh37: 4:166981218-166981218
GRCh38: 4:166060066-166060066
4 CITED2 CITED2, 27-BP INS, NT534 Insertion Pathogenic 6722 GRCh37:
GRCh38:
5 CITED2 CITED2, 6-BP DEL, NT592 Deletion Pathogenic 6723 GRCh37:
GRCh38:
6 GATA4 NM_002052.5(GATA4):c.886G>A (p.Gly296Ser) SNV Pathogenic 9030 rs104894073 GRCh37: 8:11607722-11607722
GRCh38: 8:11750213-11750213
7 GATA4 NM_002052.5(GATA4):c.155C>T (p.Ser52Phe) SNV Pathogenic 9032 rs104894074 GRCh37: 8:11565976-11565976
GRCh38: 8:11708467-11708467
8 GATA4 NM_002052.5(GATA4):c.946C>G (p.Gln316Glu) SNV Pathogenic 9033 rs56298569 GRCh37: 8:11612591-11612591
GRCh38: 8:11755082-11755082
9 MYH6 NM_002471.3(MYH6):c.2459T>A (p.Ile820Asn) SNV Pathogenic 14148 rs267606903 GRCh37: 14:23863503-23863503
GRCh38: 14:23394294-23394294
10 GATA4 NM_002052.5(GATA4):c.886G>T (p.Gly296Cys) SNV Pathogenic 30098 rs104894073 GRCh37: 8:11607722-11607722
GRCh38: 8:11750213-11750213
11 GATA4 NM_002052.5(GATA4):c.928A>G (p.Met310Val) SNV Pathogenic 30109 rs387906772 GRCh37: 8:11612573-11612573
GRCh38: 8:11755064-11755064
12 GATA4 NM_002052.5(GATA4):c.1075del (p.Glu359fs) Deletion Pathogenic 9031 rs1585703301 GRCh37: 8:11614521-11614521
GRCh38: 8:11757012-11757012
13 TLL1 NM_012464.5(TLL1):c.1379-2A>G SNV Pathogenic 690359 rs1579663872 GRCh37: 4:166964424-166964424
GRCh38: 4:166043272-166043272
14 GATA4 NM_002052.5(GATA4):c.839C>T (p.Thr280Met) SNV Pathogenic 30108 rs387906771 GRCh37: 8:11607675-11607675
GRCh38: 8:11750166-11750166
15 DMD NM_004006.2(DMD):c.93+1G>C SNV Pathogenic 523470 rs886042604 GRCh37: X:33038255-33038255
GRCh38: X:33020138-33020138
16 TBX5 NM_000192.3(TBX5):c.444G>A (p.Trp148Ter) SNV Pathogenic 235885 rs1555226315 GRCh37: 12:114836444-114836444
GRCh38: 12:114398639-114398639
17 TBX20 NM_001077653.2(TBX20):c.583C>T (p.Gln195Ter) SNV Pathogenic 4633 rs137852955 GRCh37: 7:35284632-35284632
GRCh38: 7:35245020-35245020
18 TBX20 NM_001077653.2(TBX20):c.363C>G (p.Ile121Met) SNV Pathogenic 4634 rs267607106 GRCh37: 7:35289580-35289580
GRCh38: 7:35249968-35249968
19 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.373A>G (p.Met125Val) SNV Pathogenic 18327 rs121912677 GRCh37: 15:35085527-35085527
GRCh38: 15:34793326-34793326
20 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) SNV Pathogenic 18331 rs193922680 GRCh37: 15:35085599-35085599
GRCh38: 15:34793398-34793398
21 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp) SNV Pathogenic 626827 rs1566967399 GRCh37: 15:35084359-35084359
GRCh38: 15:34792158-34792158
22 DIPK1A , RPL5 NM_000969.5(RPL5):c.74-1G>C SNV Pathogenic 523383 rs1553284997 GRCh37: 1:93299101-93299101
GRCh38: 1:92833544-92833544
23 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro) SNV Pathogenic 18329 rs267606629 GRCh37: 15:35082750-35082750
GRCh38: 15:34790549-34790549
24 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn) SNV Pathogenic 177917 rs727504399 GRCh37: 15:35086934-35086934
GRCh38: 15:34794733-34794733
25 NKX2-5 NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter) SNV Pathogenic 523473 rs1554093433 GRCh37: 5:172659836-172659836
GRCh38: 5:173232833-173232833
26 GATA4 NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn) SNV Pathogenic 9034 rs56208331 GRCh37: 8:11615928-11615928
GRCh38: 8:11758419-11758419
27 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.215_231del (p.Pro72fs) Deletion Pathogenic 18328 rs387906585 GRCh37: 15:35085669-35085685
GRCh38: 15:34793468-34793484
28 GATA6 NM_005257.5(GATA6):c.551G>A (p.Ser184Asn) SNV Pathogenic/Likely pathogenic 30210 rs387906816 GRCh37: 18:19751656-19751656
GRCh38: 18:22171695-22171695
29 GATA4 NM_001308093.3(GATA4):c.1312G>A (p.Gly438Arg) SNV Likely pathogenic 870470 GRCh37: 8:11615964-11615964
GRCh38: 8:11758455-11758455
30 CITED2 NM_006079.5(CITED2):c.701A>C (p.Glu234Ala) SNV Likely pathogenic 804240 rs1583066622 GRCh37: 6:139694381-139694381
GRCh38: 6:139373244-139373244
31 TBX5 NM_000192.3(TBX5):c.253C>A (p.Pro85Thr) SNV Likely pathogenic 626359 rs1565941579 GRCh37: 12:114837427-114837427
GRCh38: 12:114399622-114399622
32 ABCC8 NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln) SNV Likely pathogenic 523361 rs1344172059 GRCh37: 11:17452385-17452385
GRCh38: 11:17430838-17430838
33 CHD7 NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter) SNV Likely pathogenic 523522 rs367557471 GRCh37: 8:61734614-61734614
GRCh38: 8:60822055-60822055
34 SETBP1 NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg) SNV Likely pathogenic 523513 rs1555706928 GRCh37: 18:42531919-42531919
GRCh38: 18:44951954-44951954
35 GATA4 NM_002052.5(GATA4):c.958C>T (p.Arg320Trp) SNV Likely pathogenic 545667 rs1282433424 GRCh37: 8:11612603-11612603
GRCh38: 8:11755094-11755094
36 CREBBP NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) SNV Likely pathogenic 598959 rs1567263168 GRCh37: 16:3779445-3779445
GRCh38: 16:3729444-3729444
37 HDAC8 NM_018486.3(HDAC8):c.584T>G (p.Val195Gly) SNV Likely pathogenic 523523 rs1556009247 GRCh37: X:71710823-71710823
GRCh38: X:72490973-72490973
38 ACTL6A NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) SNV Likely pathogenic 549661 rs868064163 GRCh37: 3:179304340-179304340
GRCh38: 3:179586552-179586552
39 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.941G>A (p.Arg314His) SNV Likely pathogenic 18323 rs121912673 GRCh37: 15:35083364-35083364
GRCh38: 15:34791163-34791163
40 TPM1 NM_001018005.2(TPM1):c.686C>T (p.Ser229Phe) SNV Likely pathogenic 370040 rs1114167356 GRCh37: 15:63354460-63354460
GRCh38: 15:63062261-63062261
41 SMARCA4 NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His) SNV Likely pathogenic 816865 GRCh37: 19:11134234-11134234
GRCh38: 19:11023558-11023558
42 GATA4 NM_001308093.3(GATA4):c.851G>A (p.Arg284His) SNV Likely pathogenic 1029405 GRCh37: 8:11607684-11607684
GRCh38: 8:11750175-11750175
43 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.382A>G (p.Thr128Ala) SNV Likely pathogenic 1031511 GRCh37: 15:35085518-35085518
GRCh38: 15:34793317-34793317
44 ABCC8 NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) SNV Likely pathogenic 35609 rs141322087 GRCh37: 11:17426099-17426099
GRCh38: 11:17404552-17404552
45 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.809-58TG[21] Microsatellite Conflicting interpretations of pathogenicity 315708 rs59431308 GRCh37: 15:35083509-35083512
GRCh38: 15:34791308-34791311
46 ACTC1 , LOC101928174 NM_005159.4(ACTC1):c.*247G>A SNV Uncertain significance 315698 rs886051088 GRCh37: 15:35082366-35082366
GRCh38: 15:34790165-34790165
47 ACTC1 , LOC101928174 NM_005159.4(ACTC1):c.*1781C>T SNV Uncertain significance 315651 rs560065427 GRCh37: 15:35080832-35080832
GRCh38: 15:34788631-34788631
48 ACTC1 , LOC101928174 NM_005159.4(ACTC1):c.-194C>A SNV Uncertain significance 315722 rs886051099 GRCh37: 15:35087878-35087878
GRCh38: 15:34795677-34795677
49 ACTC1 , LOC101928174 NM_005159.4(ACTC1):c.-105C>A SNV Uncertain significance 315719 rs886051096 GRCh37: 15:35087789-35087789
GRCh38: 15:34795588-34795588
50 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.809-58TG[17] Microsatellite Uncertain significance 315709 rs59431308 GRCh37: 15:35083509-35083520
GRCh38: 15:34791308-34791319

Expression for Interatrial Communication

Search GEO for disease gene expression data for Interatrial Communication.

Pathways for Interatrial Communication

Pathways related to Interatrial Communication according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 TBX5 NKX2-5 MYH6 GATA4 DMD
2
Show member pathways
12.25 NKX2-5 GATA6 GATA4 DMD CREBBP
3
Show member pathways
11.92 TBX5 NKX2-5 GATA4 CREBBP
4 11.9 GATA6 GATA4 CREBBP
5 11.79 TBX5 NKX2-5 GATA4
6 11.74 MYH6 GATA4 CREBBP
7 11.61 TBX5 NKX2-5 GATA4
8 11.44 MYH6 DMD ACTC1
9 11.18 GATA6 GATA4 CREBBP
10 11.02 TBX5 TBX20 NKX2-5 GATA6 GATA4
11 10.85 NKX2-5 GATA4
12 10.82 TBX5 TBX20 NKX2-5 MYH6 GATA4 ACTC1
13 10.11 NKX2-5 GATA4 ACTC1

GO Terms for Interatrial Communication

Cellular components related to Interatrial Communication according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.43 TBX5 RPL5 NKX2-5 DMD CITED2 ACTL6A
2 chromatin GO:0000785 9.23 TBX5 TBX20 NKX2-5 GATA6 GATA4 CREBBP

Biological processes related to Interatrial Communication according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.16 TBX5 TBX20 NKX2-5 GATA6 GATA4 CITED2
2 regulation of transcription, DNA-templated GO:0006355 10.13 TBX5 TBX20 NKX2-5 GATA6 GATA4 DMD
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.1 TBX5 TBX20 NKX2-5 GATA6 GATA4 CREBBP
4 response to drug GO:0042493 9.9 GATA6 GATA4 ACTC1 ABCC8
5 in utero embryonic development GO:0001701 9.88 MYH6 GATA6 CITED2 CHD7
6 positive regulation of transcription, DNA-templated GO:0045893 9.86 TBX5 TBX20 NKX2-5 GATA6 GATA4 CREBBP
7 male gonad development GO:0008584 9.8 GATA6 GATA4 CITED2
8 vasculogenesis GO:0001570 9.74 TBX20 NKX2-5 CITED2
9 positive regulation of cardiac muscle cell proliferation GO:0060045 9.73 TBX5 TBX20 GATA6
10 heart looping GO:0001947 9.73 TBX20 NKX2-5 GATA4 CITED2
11 muscle filament sliding GO:0030049 9.72 MYH6 DMD ACTC1
12 ventricular septum development GO:0003281 9.71 TBX5 GATA4 CITED2
13 aortic valve morphogenesis GO:0003180 9.7 TBX20 NKX2-5 GATA4
14 outflow tract septum morphogenesis GO:0003148 9.69 TBX20 NKX2-5 GATA6
15 negative regulation of cardiac muscle cell proliferation GO:0060044 9.64 TBX5 CITED2
16 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.64 DMD CHD7
17 actin filament-based movement GO:0030048 9.63 MYH6 ACTC1
18 embryonic heart tube development GO:0035050 9.63 TBX20 NKX2-5
19 adult heart development GO:0007512 9.63 NKX2-5 MYH6 CHD7
20 cardiac muscle contraction GO:0060048 9.62 NKX2-5 MYH6 DMD ACTC1
21 cardiac septum morphogenesis GO:0060411 9.61 CITED2 CHD7
22 cardiac right ventricle morphogenesis GO:0003215 9.61 TBX20 GATA4
23 cardiac muscle hypertrophy in response to stress GO:0014898 9.59 MYH6 GATA6
24 intestinal epithelial cell differentiation GO:0060575 9.58 GATA6 GATA4
25 cardiac muscle tissue morphogenesis GO:0055008 9.58 TBX20 NKX2-5 ACTC1
26 endocardial cushion development GO:0003197 9.54 TBX5 GATA4 CITED2
27 cardiac muscle cell differentiation GO:0055007 9.46 TBX5 NKX2-5 GATA6 GATA4
28 atrial septum morphogenesis GO:0060413 9.26 TBX5 TBX20 NKX2-5 GATA4
29 positive regulation of cardioblast differentiation GO:0051891 8.92 TBX5 NKX2-5 GATA6 GATA4

Molecular functions related to Interatrial Communication according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.88 TBX5 TBX20 NKX2-5 GATA6 GATA4 CHD7
2 DNA-binding transcription factor activity GO:0003700 9.77 TBX5 TBX20 NKX2-5 GATA6 GATA4
3 myosin binding GO:0017022 9.43 DMD ACTC1
4 RNA polymerase II transcription factor binding GO:0001085 9.43 TBX20 GATA4 CREBBP
5 transcription factor binding GO:0008134 9.35 TBX5 NKX2-5 GATA6 GATA4 CREBBP
6 RNA polymerase II activating transcription factor binding GO:0001102 9.33 TBX20 CREBBP CITED2
7 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding GO:0001216 9.32 NKX2-5 GATA4
8 chromatin binding GO:0003682 9.1 NKX2-5 GATA6 CREBBP CITED2 CHD7 ACTL6A

Sources for Interatrial Communication

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....