Atrial Heart Septal Defect disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ATR010 MIFTS: 58	Atrial Heart Septal Defect Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Atrial Heart Septal Defect

MalaCards integrated aliases for Atrial Heart Septal Defect:

Name: Atrial Heart Septal Defect ¹¹ ¹⁴ ¹⁶

Atrial Septal Defect ¹¹ ⁷⁵ ²⁸ ⁵ ³¹

Atrial Septal Defects ⁵³ ¹⁴

Congenital Atrial Septal Defect ¹¹

Interauricular Septal Defect ¹¹

Heart Septal Defects, Atrial ⁴³

Interatrial Septal Defect ¹¹

Auricular Septal Defect ¹¹

Septal Defect, Atrial ³⁸

Atrioseptal Defect ¹¹

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Congenital malformations of cardiac septa

Atrial septal defect

External Ids:

Disease Ontology ¹¹ DOID:1882

MeSH ⁴³ D006344

NCIt ⁴⁹ C84473

SNOMED-CT ⁶⁸ 156915002

ICD10 ³¹ Q21.1

EFO ¹⁶ EFO_1000825

UMLS ⁷¹ C0018817

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Summaries for Atrial Heart Septal Defect

Disease Ontology: ¹¹ A heart septal defect located in in the septum that separates the two atria of the heart.

MalaCards based summary: Atrial Heart Septal Defect, also known as atrial septal defect, is related to patent foramen ovale and interatrial communication. An important gene associated with Atrial Heart Septal Defect is NKX2-5 (NK2 Homeobox 5), and among its related pathways/superpathways are Cardiac conduction and Human Embryonic Stem Cell Pluripotency. The drugs Dexmedetomidine and Acetylsalicylic acid have been mentioned in the context of this disorder. Affiliated tissues include in the septum, heart and lung, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia: ⁷⁵ Atrial septal defect (ASD) is a congenital heart defect in which blood flows between the atria (upper... more...

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Related Diseases for Atrial Heart Septal Defect

Diseases in the Atrial Heart Septal Defect family:

Atrial Heart Septal Defect 7

Diseases related to Atrial Heart Septal Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 698)

#	Related Disease	Score	Top Affiliating Genes
1	patent foramen ovale	33.8	TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
2	interatrial communication	33.7	TBX5 SMARCA4 SETBP1 RPL5 NKX2-5 HDAC8
3	atrial septal defect 2	33.4	TBX5 TBX20 NKX2-5 GATA4
4	atrial septal defect 5	33.3	TBX5 TBX20 NKX2-5
5	atrioventricular septal defect	33.3	TBX5 TBX20 PRODH NKX2-5 MYH6 GATA4
6	atrial septal defect 9	33.1	PRODH CFAP47
7	holt-oram syndrome	33.0	TBX5 TBX20 PRODH NKX2-5 MYH6 GATA4
8	hypoplastic right heart syndrome	32.9	TBX5 TBX20 NKX2-5
9	tricuspid atresia	32.8	TBX5 TBX20 PRODH NKX2-5 GATA4
10	hypoplastic left heart syndrome	32.7	TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
11	ventricular septal defect	32.2	TBX5 TBX20 SMARCA4 PRODH NPPB NKX2-5
12	mitral valve insufficiency	32.2	TBX5 NPPB MYH6
13	atrioventricular block	32.1	TBX5 NPPB NKX2-5 MYH6 GATA4
14	total anomalous pulmonary venous return 1	32.0	TBX5 NKX2-5 GATA4
15	patent ductus arteriosus 1	32.0	TBX5 TBX20 SMARCA4 PRODH NPPB NKX2-5
16	ebstein anomaly	31.9	TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
17	orthostatic intolerance	31.9	TBX5 TBX20 NKX2-5 MYH6
18	aortic valve disease 2	31.9	TBX5 NPPB NKX2-5 MYH6 GATA4
19	tetralogy of fallot	31.9	TBX5 TBX20 PRODH NPPB NKX2-5 MYH6
20	pulmonary valve stenosis	31.9	TBX5 NKX2-5 GATA4
21	transposition of the great arteries, dextro-looped	31.9	TBX5 TBX20 NPPB NKX2-5 GATA4
22	third-degree atrioventricular block	31.8	TBX5 NPPB NKX2-5 MYH6
23	heart disease	31.7	TBX5 TBX20 PRODH NPPB NKX2-5 MYH6
24	congestive heart failure	31.6	NPPB MYH6 GATA4 ABCC8
25	hypertrophic cardiomyopathy	31.6	TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
26	lipoprotein quantitative trait locus	31.5	TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
27	cardiomyopathy, familial hypertrophic, 1	31.5	NKX2-5 MYH6 GATA4 DMD
28	aortic valve disease 1	31.5	TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
29	noonan syndrome 1	31.5	TBX5 TBX20 SETBP1 NKX2-5 MYH6 GATA4
30	wolff-parkinson-white syndrome	31.4	TBX5 TBX20 NPPB NKX2-5 MYH6
31	heart septal defect	31.3	TBX5 TBX20 PRODH NPPB NKX2-5 MYH6
32	left ventricular noncompaction	31.3	TBX5 TBX20 NKX2-5 MYH6 GATA4 DMD
33	dilated cardiomyopathy	31.3	TBX5 TBX20 NPPB NKX2-5 MYH6 GATA4
34	heart valve disease	31.3	NPPB NKX2-5 MYH6
35	subvalvular aortic stenosis	31.3	TBX20 NKX2-5
36	double outlet right ventricle	31.1	TBX5 TBX20 NKX2-5 MYH6 GATA4 CHD7
37	charge syndrome	31.1	SMARCA4 PRODH CHD7
38	tricuspid valve stenosis	31.1	NPPB NKX2-5
39	pulmonary valve insufficiency	31.0	NPPB NKX2-5
40	endocardial fibroelastosis	30.9	NPPB NKX2-5 MYH6
41	kabuki syndrome 1	30.7	TBX20 SMARCA4 NKX2-5 CREBBP CHD7 ABCC8
42	jacobsen syndrome	30.7	TBX5 TBX20 NKX2-5 GATA4 CHD7
43	pulmonary valve disease	30.7	TBX5 NPPB NKX2-5 GATA4
44	williams-beuren syndrome	30.7	TBX5 TBX20 PRODH NKX2-5 MYH6 GATA4
45	brugada syndrome	30.7	TBX5 NKX2-5 MYH6 GATA4 DMD
46	aortic aneurysm, familial thoracic 1	30.7	TBX5 TBX20 SMARCA4 NKX2-5 MYH6 GATA4
47	long qt syndrome	30.7	TBX5 NKX2-5 MYH6 GATA4 ABCC8
48	right atrial isomerism	30.7	TBX5 TBX20 NKX2-5
49	hypertrichosis	30.5	SMARCA4 CREBBP ABCC8
50	tarp syndrome	11.9

Graphical network of the top 20 diseases related to Atrial Heart Septal Defect:

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Symptoms & Phenotypes for Atrial Heart Septal Defect

MGI Mouse Phenotypes related to Atrial Heart Septal Defect:

⁴⁵ (show all 12)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.31	ABCC8 CHD7 CREBBP DIPK1A DMD FOXC1
2	homeostasis/metabolism	MP:0005376	10.3	ABCC8 CHD7 CREBBP DIPK1A DMD FOXC1
3	muscle	MP:0005369	10.24	CHD7 CREBBP DMD FOXC1 GATA4 MYH6
4	normal	MP:0002873	10.16	CREBBP DMD FOXC1 GATA4 HDAC8 NKX2-5
5	limbs/digits/tail	MP:0005371	10.13	CHD7 CREBBP DMD FOXC1 GATA4 PRODH
6	cardiovascular system	MP:0005385	10.13	ABCC8 CHD7 CREBBP DIPK1A DMD FOXC1
7	embryo	MP:0005380	10.1	CHD7 CREBBP FOXC1 GATA4 HDAC8 NKX2-5
8	cellular	MP:0005384	10.1	ACTL6A CFAP47 CHD7 CREBBP DMD FOXC1
9	craniofacial	MP:0005382	9.97	CHD7 CREBBP FOXC1 HDAC8 NKX2-5 RPL5
10	respiratory system	MP:0005388	9.76	CHD7 CREBBP DMD FOXC1 GATA4 MYH6
11	skeleton	MP:0005390	9.65	CHD7 CREBBP DMD FOXC1 GATA4 HDAC8
12	mortality/aging	MP:0010768	9.47	ACTL6A CHD7 CREBBP DMD FOXC1 GATA4

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Drugs & Therapeutics for Atrial Heart Septal Defect

Drugs for Atrial Heart Septal Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Dexmedetomidine

Approved, Experimental, Vet_approved

Phase 4

86347-14-0, 113775-47-6

68602 5311068

Acetylsalicylic acid

Approved, Vet_approved

Phase 4

50-78-2

2244

Clopidogrel

Approved

Phase 4

120202-66-6, 113665-84-2

60606

Ketamine

Approved, Vet_approved

Phase 4

6740-88-1, 1867-66-9

3821

Propofol

Approved, Investigational, Vet_approved

Phase 4

2078-54-8

4943

Racepinephrine

Approved, Vet_approved

Phase 4

51-43-4, 329-65-7

838 5816

Bupivacaine

Approved, Investigational

Phase 4

2180-92-9, 38396-39-3

2474

Oxycodone

Approved, Illicit, Investigational

Phase 4

76-42-6

5284603

Adrenergic alpha-Agonists

Phase 4

Adrenergic Agonists

Phase 4

Adrenergic Agents

Phase 4

Neurotransmitter Agents

Phase 4

Hypnotics and Sedatives

Phase 4

Analgesics, Non-Narcotic

Phase 4

Analgesics

Phase 4

Purinergic P2Y Receptor Antagonists

Phase 4

Platelet Aggregation Inhibitors

Phase 4

Excitatory Amino Acid Antagonists

Phase 4

Anesthetics, Intravenous

Phase 4

Anesthetics, General

Phase 4

Anesthetics, Dissociative

Phase 4

Pharmaceutical Solutions

Phase 4

Epinephryl borate

Phase 4

Carticaine

Phase 4

Anesthetics, Local

Phase 4

Anesthetics

Phase 4

Bosentan

Approved, Investigational

Phase 3

147536-97-8

104865

Benzocaine

Approved, Investigational

Phase 3

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 3

1401-55-4

16129878 16129778

Endothelin Receptor Antagonists

Phase 3

Antihypertensive Agents

Phase 3

Plasma-lyte 148

Phase 3

Ophthalmic Solutions

Phase 3

Heparin, bovine

Approved, Investigational, Withdrawn

9005-49-6

22833565 9812414 772

Reviparin

Approved, Investigational

9041-08-1

Sildenafil

Approved, Investigational

139755-83-2, 171599-83-0

5212 135398744

Fibrinolytic Agents

Anticoagulants

Calcium heparin

Heparin, Low-Molecular-Weight

Nickel

7440-02-0

934

Interventional clinical trials:

(show top 50) (show all 59)

#	Name	Status	NCT ID	Phase	Drugs
1	Randomized Clinical Trial Comparing the Efficacy of Percutaneous Closure of Patent Foramen Ovale (PFO) With Medical Treatment in Patients With Cryptogenic Embolism	Unknown status	NCT00166257	Phase 4	Medical antitrhombotic treatment
2	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
3	Comparative Effects of Dexmedetomidine and Ketofol for Sedation in Out-patients Undergoing Diagnostic Trans-esophageal Echocardiography: A Randomized Controlled Trial	Completed	NCT02867930	Phase 4	Dexmedetomidine;Ketofol(ketamine+propofol)
4	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
5	The Pharmacology of Dexmedetomidine in Children With Congenital Heart Disease	Completed	NCT00480740	Phase 3	Dexmedetomidine
6	BOsentan for Mild Pulmonary Vascular Disease in Asd Patients (the BOMPA Trial): a Double-blind, Randomized Controlled, Pilot Trial	Completed	NCT01218607	Phase 3	Bosentan;Placebo
7	A Phase III Double-Blind, Randomized, Placebo Controlled, Multi Center Clinical Study to Evaluate the Efficacy and Safety of Intravenous L-Citrulline for the Prevention of Clinical Sequelae of Acute Lung Injury Induced by Cardiopulmonary Bypass in Pediatric Patients Undergoing Surgery for Congenital Heart Defects	Recruiting	NCT05253209	Phase 3	L-citrulline;Plasmalyte A
8	A With-in Subject, Controlled Study to Determine the Sensitivity and Specificity of the Cardiox Flow Detection System for the Detection of Right-to-Left Cardiac Shunts Compared to Transesophageal Echocardiography and Transcranial Doppler Ultrasound	Terminated	NCT01773252	Phase 3
9	Effect of Septal Closure of Atrial PFO on Events of Migraine With Premere: ESCAPE Migraine Trial	Terminated	NCT00267371	Phase 3	Medical management/current medications per standard of care by personal physician.
10	Iatrogenic Atrial Septal Defect Study	Withdrawn	NCT04395027	Phase 3
11	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
12	Utilization of Confocal Microscopy During Cardiac Surgery	Completed	NCT03189134	Phase 1	Fluorescite
13	Occluder Size Determination in Transcatheter Closure of Ostium Secundum Atrial Septal Defect Based on Three-Dimensional Echocardiography Assessment	Unknown status	NCT02601768
14	A Multicentre, Randomized Controlled Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure	Unknown status	NCT01086046		Low molecular weight heparin
15	The Effect of the Iatrogenic Atrial Septal Defect After MitraClip Procedure on the Hemodynamic Outcome	Unknown status	NCT02453451
16	A Randomized Multicenter Comparison Trial to Evaluate the Effectiveness and Safety of the Guidewire for Echo-guided Interventions in Treating ASD	Unknown status	NCT04096924
17	International Registry for Secundum Atrial Septal Defects Closure by Using the Occlutech®Flex II Device in More Than 2000 Patients	Unknown status	NCT02766569
18	A Prospective, Multi-center Study to Evaluate the Safety and Performance of the Hyperion™ ASD and PDA Closure Systems.	Unknown status	NCT02220270
19	Suture Mediated Septal Defect Closure/Repair Evaluation of the NobleStitch EL System	Unknown status	NCT03373929
20	Case Report: Resolution of Pulmonary Hypertension With Sildenafil and Bosentan in Patients With Trisomy 21 and Atrial Septal Defect	Completed	NCT00478296
21	Atrial Septal Defect - Exercise Capacity and Pulmonary Hypertension	Completed	NCT03565471
22	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
23	Multi-center, Prospective, Post-market Study	Completed	NCT02621528
24	Closure of Atrial Septal Defects With the AMPLATZER Septal Occluder - Post Approval Study	Completed	NCT00650936
25	The Effect on Endothelial Progenitor Cells (EPCs) by Successful Cardiac Occlusion Device Implantation	Completed	NCT02957201
26	Imaging of Atrial Septal Defects by Velocity Encoded Cardiovascular Magnetic Resonance	Completed	NCT00498446
27	Assessment of Left and Right Ventricular Strain and Strain Rate Before and After Percutaneous Closure of Atrial Septal Defects in Adults and Adolescents	Completed	NCT04091919
28	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	Completed	NCT02985684
29	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
30	Prospective, Monocentric Study for the Evaluation of Latent Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions Lost to Follow-up.	Completed	NCT02552485
31	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
32	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
33	Integration of Three-dimensional Echocardiography and Fluoroscopy Imaging During the Percutaneous Closure of intAtrial Septal Defects in Children: CIA-3D-navigator.	Completed	NCT02529111
34	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
35	Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease	Completed	NCT00005546
36	Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease	Completed	NCT00005322
37	Single-center Non-comparative, Prospective Interventional Clinical Investigation on the Procedural Success and Safety of the Nit-Occlud® PFO Closure Device and Its Application System.	Completed	NCT00968032
38	Reproduction and Survival After Cardiac Defect Repair	Completed	NCT00005190
39	Protein Distribution and Colloid Osmotic Pressure in Children With Volume and Pressure Loading Due to Congenital Heart Defects	Completed	NCT01757743
40	GORE® HELEX® Septal Occluder Post-Approval Study	Completed	NCT00581308
41	A Multicenter, Randomized, Parallel-controlled Clinical Trial to Evaluate the Efficacy and Safety of a New Atrial Septal Defect Occluder, ReAces®, and Delivery System for the Treatment of Atrial Septal Defect Occlusion	Recruiting	NCT05371366
42	Efficacy of Three Dimensional Transesophageal Echocardiography for Percutaneous Device Closure in Atrial Septal Defect	Recruiting	NCT02097758
43	Evaluation of the Safety and Efficacy of the reSept ASD Occluder to Treat Patients With Clinically Significant Secundum Atrial Septal Defect	Recruiting	NCT04591392
44	Holter and ECG Changes After Transcatheter Closure Of ASD In Children	Recruiting	NCT05540769
45	Evaluation of Safety and Efficacy of the Absnow Absorbable ASD Closure System For Treating ASD Patients	Recruiting	NCT03601039
46	The Philips (VeriSight) Intracardiac Echocardiography (ICE) Registry	Recruiting	NCT04950192
47	Amplatzer™ Trevisio™ Delivery System Post-Approval Study	Recruiting	NCT04433520
48	Radiation-Free Heart Catheterization Using MRI	Active, not recruiting	NCT02739087
49	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
50	MitraClip® and Hemodynamic Effects of Relevant Iatrogenic Atrial Septum Defect Closure - Evaluation of Morphologic and Functional Changes in a Randomized Setting	Active, not recruiting	NCT03024268

Search NIH Clinical Center for Atrial Heart Septal Defect

Cochrane evidence based reviews: heart septal defects, atrial

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Genetic Tests for Atrial Heart Septal Defect

Genetic tests related to Atrial Heart Septal Defect:

#	Genetic test	Affiliating Genes
1	Atrial Septal Defect ²⁸

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Anatomical Context for Atrial Heart Septal Defect

Organs/tissues related to Atrial Heart Septal Defect:

FMA: In The Septum

MalaCards : Heart, Lung, Endothelial, Brain, Atrioventricular Node, Liver, Spinal Cord

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Publications for Atrial Heart Septal Defect

Articles related to Atrial Heart Septal Defect:

(show top 50) (show all 11466)

#	Title	Authors	PMID	Year
1	GATA4 mutations in Chinese patients with congenital cardiac septal defects. ⁵³ ⁶²	Chen MW...Liu TW	19915893	2010
2	Usefulness of early diastolic mitral annular velocity to predict plasma levels of brain natriuretic peptide and transient heart failure development after device closure of atrial septal defect. ⁵³ ⁶²	Masutani S...Senzaki H	19962485	2009
3	[Mutation of NKX2-5 gene in patients with atrial septal defect]. ⁵³ ⁶²	Liu XY...Chen YH	20021795	2009
4	Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects. ⁵³ ⁶²	Hamanoue H...Matsumoto N	19678963	2009
5	Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene. ⁵³ ⁶²	Bjornstad PG...Leren TP	19049681	2009
6	A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly. ⁵³ ⁶²	Faria MH...Krieger JE	18706711	2008
7	Isolation, characterization and genetic analysis of canine GATA4 gene in a family of Doberman Pinschers with an atrial septal defect. ⁵³ ⁶²	Lee SA...Hyun C	18305343	2007
8	Correlation of plasma B-type natriuretic peptide with shunt severity in patients with atrial or ventricular septal defect. ⁵³ ⁶²	Ozhan H...Yazici M	17530321	2007
9	Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa. ⁵³ ⁶²	Rifai L...Sefiani A	17184575	2007
10	Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications. ⁵³ ⁶²	Piacentini G...Marino B	17255809	2007
11	A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? ⁵³ ⁶²	Gutierrez-Roelens I...Vikkula M	16896344	2006
12	The Kruppel-like transcription factor KLF13 is a novel regulator of heart development. ⁵³ ⁶²	Lavallee G...Nemer M	17053787	2006
13	Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. ⁵³ ⁶²	Hirayama-Yamada K...Matsuoka R	15810002	2005
14	Mutation in myosin heavy chain 6 causes atrial septal defect. ⁵³ ⁶²	Ching YH...Brook JD	15735645	2005
15	Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. ⁵³ ⁶²	Sarkozy A...Dallapiccola B	15689439	2005
16	The natriuretic peptides and their role in disorders of right heart dysfunction and pulmonary hypertension. ⁵³ ⁶²	Yap LB...Timms PM	15369714	2004
17	A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. ⁵³ ⁶²	Okubo A...Matsumoto N	15235040	2004
18	Interaction makes the heart grow stronger. ⁵³ ⁶²	Packham EA...David Brook J	14557051	2003
19	Developmental paradigms in heart disease: insights from tinman. ⁵³ ⁶²	Prall OW...Harvey RP	12173684	2002
20	Quantitative evaluation of the changes in plasma concentrations of cardiac natriuretic peptide before and after transcatheter closure of atrial septal defect. ⁵³ ⁶²	Muta H...Kato H	12162595	2002
21	Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5. ⁵³ ⁶²	Biben C...Harvey RP	11073884	2000
22	Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. ⁵³ ⁶²	Benson DW...Kugler JD	10587520	1999
23	Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects. ⁵³ ⁶²	Swiderski RE...Lin JJ	10474162	1999
24	Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome. ⁵³ ⁶²	Bruneau BG...Seidman CE	10373308	1999
25	Secretion patterns of brain natriuretic peptide and atrial natriuretic peptide in patients with or without pulmonary hypertension complicating atrial septal defect. ⁵³ ⁶²	Nagaya N...Kangawa K	9704693	1998
26	Plasma brain natriuretic peptide levels increase in proportion to the extent of right ventricular dysfunction in pulmonary hypertension. ⁵³ ⁶²	Nagaya N...Kangawa K	9426041	1998
27	Assessing associations between residential proximity to greenspace and birth defects in the National Birth Defects Prevention Study. ⁶²	Weber KA...National Birth Defects Prevention Study	36356662	2023
28	Bilateral branch pulmonary arterial reconstruction in the Alagille syndrome: The technique and its pitfalls. ⁶²	Said SM...Marey G	36458898	2022
29	Status of adult outpatients with congenital heart disease in Japan: The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease Registry. ⁶²	Yao A...JNCVD-ACHD investigators	35995687	2022
30	Hypogenetic right lung with partial anomalous pulmonary venous return (PAPVR) and accessory diaphragm: a case of "Scimitar Lung". ⁶²	Melovitz-Vasan C...Vasan N	36472398	2022
31	Predictors of pulmonary hypertension among children with atrial septal defects (ASD). ⁶²	Chinawa JM...Duru CO	34813403	2022
32	First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome. ⁶²	Piazza I...Ferrero P	35250252	2022
33	Eisenmenger Syndrome Among Children with Unrepaired Congenital Heart Defects in Yunnan, China. ⁶²	Guo F...Detrano RC	35522268	2022
34	Prenatal Diagnosis and Postnatal Outcome of Eight Cases with Criss-Cross Heart - A Multicenter Case Series. ⁶²	Vorisek CN...Axt-Fliedner R	32674186	2022
35	Incidence, Clinical Features, and Association with Prognosis of Bloodstream Infection in Pediatric Patients After Percutaneous or Surgical Treatment for Ventricular Septal Defect or Atrial Septal Defect: A Retrospective Cohort Study. ⁶²	Chen Q...Wang S	36242740	2022
36	Traumatic atrial septal defect diagnosed by bedside point-of-care ultrasound. ⁶²	Batchelor TJ...Roth KR	36193272	2022
37	A Novel Splicing Mutation c.335-1 G > A in the Cardiac Transcription Factor NKX2-5 Leads to Familial Atrial Septal Defect Through miR-19 and PYK2. ⁶²	Jia L...Hong G	35778654	2022
38	Adults with small, unrepaired atrial septal defects have reduced cardiac index during exercise. ⁶²	Maagaard M...Hjortdal V	36468329	2022
39	Fate of iatrogenic atrial septal defects following mitral transcatheter edge-to-edge repair - a subanalysis of the MITHRAS trial. ⁶²	Blazek S...von Roeder M	36371488	2022
40	Proprotein Convertase Subtilisin/Kexin 6 in Cardiovascular Biology and Disease. ⁶²	Wu Q...Chen S	36362216	2022
41	MeVisLab-OpenVR prototyping platform for virtual reality medical applications. ⁶²	De Buck S...Suetens P	35674999	2022
42	Uncommon variant of total anomalous pulmonary venous drainage in an infant with sudden death: a case report and review of the literature. ⁶²	Xu H...Zhu S	36401781	2022
43	A novel algorithm for classification of interatrial communications within the oval fossa in the newborn. ⁶²	Dannesbo S...Iversen K	36408693	2022
44	Haemodynamic left-ventricular changes during dobutamine stress in patients with atrial septal defect assessed with magnetic resonance imaging-based pressure-volume loops. ⁶²	Sjoberg P...Carlsson M	35838181	2022
45	Novel technique for transcatheter closure of sinus venosus atrial septal defect: The temporary suture-holding technique. ⁶²	Hejazi Y...Boudjemline Y	36183408	2022
46	Cosmetic and shoulder functional outcomes in posterolateral minithoracotomy atrial septal defect closure: A retrospective study. ⁶²	Ebuoka N...Tachibana T	36335627	2022
47	Giant Right Coronary Artery Pseudoaneurysm Exclusion With Atrial Septal Defect Closure Device Following Coronary Rupture. ⁶²	Spinu R...Mangin L	36423987	2022
48	Transcatheter versus surgical closure of atrial septal defect in adult patients with tricuspid regurgitation. ⁶²	Kim M...Song JM	35906027	2022
49	Atrial septal defect with a rare occupying lesion in heart. ⁶²	Chen J...Hu S	36371149	2022
50	Survival of patients with congenital ventricular septal defect. ⁶²	Eckerstrom F...Hjortdal VE	36418929	2022

Sources

Genes for Atrial Heart Septal Defect

Genes related to Atrial Heart Septal Defect (5 elite genes):

(show top 50) (show all 100)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NKX2-5	NK2 Homeobox 5	Protein Coding	418.16	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19049681 15810002 10587520 (more) 11073884 15689439 17255809 16896344 12173684 17184575 20021795
2	RPL5	Ribosomal Protein L5	Protein Coding	404.32	Pathogenic ⁵ DISEASES inferred ¹⁴
3	DMD	Dystrophin	Protein Coding	404.22	Pathogenic ⁵ DISEASES inferred ¹⁴
4	DIPK1A	Divergent Protein Kinase Domain 1A	Protein Coding	400	Pathogenic ⁵
5	ASD1	Atrial Septal Defect 1	Genetic Locus	50	MalaCards inferred ³⁹
6	TBX5	T-Box Transcription Factor 5	Protein Coding	40.19	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18706711 14557051 10373308
7	CHD7	Chromodomain Helicase DNA Binding Protein 7	Protein Coding	31.06	Likely pathogenic ⁵ DISEASES inferred ¹⁴
8	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	29.84	Likely pathogenic ⁵ DISEASES inferred ¹⁴
9	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	29.78	Likely pathogenic ⁵ DISEASES inferred ¹⁴
10	CREBBP	CREB Binding Protein	Protein Coding	29.28	Likely pathogenic ⁵ DISEASES inferred ¹⁴
11	HDAC8	Histone Deacetylase 8	Protein Coding	29.14	Likely pathogenic ⁵ DISEASES inferred ¹⁴
12	SETBP1	SET Binding Protein 1	Protein Coding	28.97	Likely pathogenic ⁵ DISEASES inferred ¹⁴
13	ACTL6A	Actin Like 6A	Protein Coding	28.44	Likely pathogenic ⁵ DISEASES inferred ¹⁴
14	GATA4	GATA Binding Protein 4	Protein Coding	15.21	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19678963 18305343 14557051 (more) 15810002 17053787 17255809 15235040 19915893 15689439
15	MYH6	Myosin Heavy Chain 6	Protein Coding	11.52	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15735645
16	NPPB	Natriuretic Peptide B	Protein Coding	11.23	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9704693 19962485 17530321 (more) 12162595 15369714 9426041
17	FOXC1	Forkhead Box C1	Protein Coding	10.91	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10474162
18	CFAP47	Cilia And Flagella Associated Protein 47	Protein Coding	10.04	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
19	TBX20	T-Box Transcription Factor 20	Protein Coding	7.72	DISEASES inferred ¹⁴
20	PRODH	Proline Dehydrogenase 1	Protein Coding	7.7	DISEASES inferred ¹⁴ ¹⁴
21	RNU4ATAC	RNA, U4atac Small Nuclear	RNA Gene	7.2	DISEASES inferred ¹⁴ ¹⁴
22	F2	Coagulation Factor II, Thrombin	Protein Coding	6.86	DISEASES inferred ¹⁴
23	PAGR1	PAXIP1 Associated Glutamate Rich Protein 1	Protein Coding	6.8	DISEASES inferred ¹⁴ ¹⁴
24	ZFHX3	Zinc Finger Homeobox 3	Protein Coding	6.8	DISEASES inferred ¹⁴ ¹⁴
25	SERPINC1	Serpin Family C Member 1	Protein Coding	6.68	DISEASES inferred ¹⁴
26	H2AC18	H2A Clustered Histone 18	Protein Coding	6.58	DISEASES inferred ¹⁴ ¹⁴
27	TBX1	T-Box Transcription Factor 1	Protein Coding	6.56	DISEASES inferred ¹⁴
28	ACTC1	Actin Alpha Cardiac Muscle 1	Protein Coding	6.55	DISEASES inferred ¹⁴
29	GATA6	GATA Binding Protein 6	Protein Coding	6.52	DISEASES inferred ¹⁴
30	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	6.46	DISEASES inferred ¹⁴
31	CRELD1	Cysteine Rich With EGF Like Domains 1	Protein Coding	6.46	DISEASES inferred ¹⁴
32	HAND2	Heart And Neural Crest Derivatives Expressed 2	Protein Coding	6.43	DISEASES inferred ¹⁴
33	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	6.41	DISEASES inferred ¹⁴
34	F3	Coagulation Factor III, Tissue Factor	Protein Coding	6.41	DISEASES inferred ¹⁴
35	ZIC3	Zic Family Member 3	Protein Coding	6.38	DISEASES inferred ¹⁴
36	ZFPM2	Zinc Finger Protein, FOG Family Member 2	Protein Coding	6.33	DISEASES inferred ¹⁴
37	GATA5	GATA Binding Protein 5	Protein Coding	6.27	DISEASES inferred ¹⁴
38	CRP	C-Reactive Protein	Protein Coding	6.27	DISEASES inferred ¹⁴
39	SHOC2	SHOC2 Leucine Rich Repeat Scaffold Protein	Protein Coding	6.26	DISEASES inferred ¹⁴
40	RBM10	RNA Binding Motif Protein 10	Protein Coding	6.25	DISEASES inferred ¹⁴
41	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	6.23	DISEASES inferred ¹⁴
42	PLG	Plasminogen	Protein Coding	6.19	DISEASES inferred ¹⁴
43	PLAT	Plasminogen Activator, Tissue Type	Protein Coding	6.08	DISEASES inferred ¹⁴
44	GJA5	Gap Junction Protein Alpha 5	Protein Coding	6.06	DISEASES inferred ¹⁴
45	TBX2	T-Box Transcription Factor 2	Protein Coding	6.05	DISEASES inferred ¹⁴
46	EVC2	EvC Ciliary Complex Subunit 2	Protein Coding	6.04	DISEASES inferred ¹⁴
47	TBX3	T-Box Transcription Factor 3	Protein Coding	6.04	DISEASES inferred ¹⁴
48	MYH7	Myosin Heavy Chain 7	Protein Coding	6.03	DISEASES inferred ¹⁴
49	TLL1	Tolloid Like 1	Protein Coding	6.02	DISEASES inferred ¹⁴
50	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	6.02	DISEASES inferred ¹⁴

Sources

Variations for Atrial Heart Septal Defect

ClinVar genetic disease variations for Atrial Heart Septal Defect:

⁵ (show top 50) (show all 75)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	DMD	NM_004006.3(DMD):c.93+1G>C	SNV	Pathogenic	523470	rs886042604	GRCh37: X:33038255-33038255 GRCh38: X:33020138-33020138
2	overlap with 39 genes		DEL	Pathogenic	1684661		GRCh37: GRCh38: 16:29640592-30187862
3	NKX2-5	NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter)	SNV	Pathogenic	523473	rs1554093433	GRCh37: 5:172659836-172659836 GRCh38: 5:173232833-173232833
4	DIPK1A, RPL5	NM_000969.5(RPL5):c.74-1G>C	SNV	Pathogenic	523383	rs1553284997	GRCh37: 1:93299101-93299101 GRCh38: 1:92833544-92833544
5	SMARCA4	NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His)	SNV	Likely Pathogenic	816865	rs1085307769	GRCh37: 19:11134234-11134234 GRCh38: 19:11023558-11023558
6	TBX5	NM_181486.4(TBX5):c.253C>A (p.Pro85Thr)	SNV	Likely Pathogenic	626359	rs1565941579	GRCh37: 12:114837427-114837427 GRCh38: 12:114399622-114399622
7	ABCC8	NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)	SNV	Likely Pathogenic	35609	rs141322087	GRCh37: 11:17426099-17426099 GRCh38: 11:17404552-17404552
8	ABCC8	NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)	SNV	Likely Pathogenic	523361	rs1344172059	GRCh37: 11:17452385-17452385 GRCh38: 11:17430838-17430838
9	CHD7	NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter)	SNV	Likely Pathogenic	523522	rs367557471	GRCh37: 8:61734614-61734614 GRCh38: 8:60822055-60822055
10	SETBP1	NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg)	SNV	Likely Pathogenic	523513	rs1555706928	GRCh37: 18:42531919-42531919 GRCh38: 18:44951954-44951954
11	CREBBP	NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)	SNV	Likely Pathogenic	598959	rs1567263168	GRCh37: 16:3779445-3779445 GRCh38: 16:3729444-3729444
12	HDAC8	NM_018486.3(HDAC8):c.584T>G (p.Val195Gly)	SNV	Likely Pathogenic	523523	rs1556009247	GRCh37: X:71710823-71710823 GRCh38: X:72490973-72490973
13	ACTL6A	NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)	SNV	Likely Pathogenic	549661	rs868064163	GRCh37: 3:179304340-179304340 GRCh38: 3:179586552-179586552
14	GJD2-DT, ACTC1	NM_005159.5(ACTC1):c.809-58TG[21]	MICROSAT	Conflicting Interpretations Of Pathogenicity	315708	rs59431308	GRCh37: 15:35083509-35083512 GRCh38: 15:34791308-34791311
15	GJD2-DT, ACTC1	NM_005159.5(ACTC1):c.809-58TG[17]	MICROSAT	Uncertain Significance	315709	rs59431308	GRCh37: 15:35083509-35083520 GRCh38: 15:34791308-34791319
16	GJD2-DT, ACTC1	NM_005159.5(ACTC1):c.809-58TG[22]	MICROSAT	Uncertain Significance	315707	rs59431308	GRCh37: 15:35083509-35083510 GRCh38: 15:34791308-34791309
17	GJD2-DT, ACTC1	NM_005159.5(ACTC1):c.809-58TG[25]	MICROSAT	Uncertain Significance	315710	rs59431308	GRCh37: 15:35083508-35083509 GRCh38: 15:34791307-34791308
18	COL5A2	NM_000393.5(COL5A2):c.1842G>A (p.Met614Ile)	SNV	Uncertain Significance	598958	rs1559085751	GRCh37: 2:189927925-189927925 GRCh38: 2:189063199-189063199
19	GJD2-DT, ACTC1	NM_005159.5(ACTC1):c.-36C>G	SNV	Uncertain Significance	315713	rs886051091	GRCh37: 15:35087720-35087720 GRCh38: 15:34795519-34795519
20	GJD2-DT, ACTC1	NM_005159.5(ACTC1):c.809-58TG[24]	MICROSAT	Uncertain Significance	315705	rs59431308	GRCh37: 15:35083508-35083509 GRCh38: 15:34791307-34791308
21	GJD2-DT, ACTC1	NM_005159.5(ACTC1):c.-55C>A	SNV	Uncertain Significance	315715	rs886051093	GRCh37: 15:35087739-35087739 GRCh38: 15:34795538-34795538
22	GJD2-DT, ACTC1	NM_005159.5(ACTC1):c.-55CCG[3]	MICROSAT	Uncertain Significance	315714	rs886051092	GRCh37: 15:35087733-35087734 GRCh38: 15:34795532-34795533
23	ERF	NM_006494.4(ERF):c.1636C>T (p.Arg546Ter)	SNV	Uncertain Significance	599007	rs764412749	GRCh37: 19:42752628-42752628 GRCh38: 19:42248476-42248476
24	GATA4	NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro)	SNV	Uncertain Significance	599008	rs773545065	GRCh37: 8:11565915-11565915 GRCh38: 8:11708406-11708406
25	LOC114827851, MYH6	NM_002471.4(MYH6):c.212T>C (p.Val71Ala)	SNV	Uncertain Significance	312883	rs769686237	GRCh37: 14:23874969-23874969 GRCh38: 14:23405760-23405760
26	RYR1	NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)	SNV	Uncertain Significance	133221	rs193922829	GRCh37: 19:38995701-38995701 GRCh38: 19:38505061-38505061
27	GJD2-DT, ACTC1	NM_005159.5(ACTC1):c.809-12_809-11insGT	INSERT	Uncertain Significance	315704	rs774238821	GRCh37: 15:35083507-35083508 GRCh38: 15:34791306-34791307
28	GJD2-DT, ACTC1	NM_005159.5(ACTC1):c.809-58TG[26]	MICROSAT	Uncertain Significance	315706	rs59431308	GRCh37: 15:35083508-35083509 GRCh38: 15:34791307-34791308
29	GJD2-DT, ACTC1	NM_005159.5(ACTC1):c.978C>A (p.Thr326=)	SNV	Uncertain Significance	315703	rs886051089	GRCh37: 15:35083327-35083327 GRCh38: 15:34791126-34791126
30	MN1	NM_002430.3(MN1):c.3839del (p.Cys1280fs)	DEL	Uncertain Significance	816905	rs1601319594	GRCh37: 22:28147027-28147027 GRCh38: 22:27751039-27751039
31	OBSL1	NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys)	SNV	Uncertain Significance	598981	rs749541061	GRCh37: 2:220424193-220424193 GRCh38: 2:219559471-219559471
32	OBSL1	NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)	SNV	Uncertain Significance	598982	rs560246798	GRCh37: 2:220423067-220423067 GRCh38: 2:219558345-219558345
33	SOS1	NM_005633.4(SOS1):c.1352C>A (p.Thr451Lys)	SNV	Uncertain Significance	180531	rs730880218	GRCh37: 2:39250217-39250217 GRCh38: 2:39023076-39023076
34	MYH6	NM_002471.4(MYH6):c.1822G>A (p.Ala608Thr)	SNV	Uncertain Significance	312875	rs886050409	GRCh37: 14:23868006-23868006 GRCh38: 14:23398797-23398797
35	MYH6	NM_002471.4(MYH6):c.675C>T (p.Asn225=)	SNV	Uncertain Significance	312882	rs886050413	GRCh37: 14:23873565-23873565 GRCh38: 14:23404356-23404356
36	HUWE1	NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro)	SNV	Uncertain Significance	523539	rs1556948950	GRCh37: X:53596615-53596615 GRCh38: X:53569655-53569655
37	MYH6	NM_002471.4(MYH6):c.3979-8dup	DUP	Uncertain Significance	179575	rs193922652	GRCh37: 14:23858271-23858272 GRCh38: 14:23389062-23389063
38	ACTC1, GJD2-DT	NM_005159.4(ACTC1):c.*422T>A	SNV	Uncertain Significance	315692	rs886051084	GRCh37: 15:35082191-35082191 GRCh38: 15:34789990-34789990
39	ACTC1, GJD2-DT	NM_005159.4(ACTC1):c.*284G>A	SNV	Uncertain Significance	315696	rs886051087	GRCh37: 15:35082329-35082329 GRCh38: 15:34790128-34790128
40	ACTC1, GJD2-DT	NM_005159.4(ACTC1):c.*1753G>T	SNV	Uncertain Significance	315652	rs886051064	GRCh37: 15:35080860-35080860 GRCh38: 15:34788659-34788659
41	ACTC1, GJD2-DT	NM_005159.4(ACTC1):c.*1115A>T	SNV	Uncertain Significance	315664	rs886051069	GRCh37: 15:35081498-35081498 GRCh38: 15:34789297-34789297
42	MYH6	NM_002471.4(MYH6):c.3604G>A (p.Val1202Met)	SNV	Uncertain Significance	312860	rs368451573	GRCh37: 14:23859394-23859394 GRCh38: 14:23390185-23390185
43	ACTC1, GJD2-DT	NM_005159.4(ACTC1):c.-101G>T	SNV	Uncertain Significance	315718	rs886051095	GRCh37: 15:35087785-35087785 GRCh38: 15:34795584-34795584
44	ACTC1, GJD2-DT	NM_005159.4(ACTC1):c.*674C>A	SNV	Uncertain Significance	315685	rs886051079	GRCh37: 15:35081939-35081939 GRCh38: 15:34789738-34789738
45	ACTC1, GJD2-DT	NM_005159.4(ACTC1):c.*2168G>T	SNV	Uncertain Significance	315646	rs886051061	GRCh37: 15:35080445-35080445 GRCh38: 15:34788244-34788244
46	MYH6	NM_002471.4(MYH6):c.3979-8del	DEL	Uncertain Significance	36628	rs193922652	GRCh37: 14:23858272-23858272 GRCh38: 14:23389063-23389063
47	ACTC1, GJD2-DT	NM_005159.4(ACTC1):c.*1090A>G	SNV	Uncertain Significance	315665	rs886051070	GRCh37: 15:35081523-35081523 GRCh38: 15:34789322-34789322
48	ACTC1, GJD2-DT	NM_005159.4(ACTC1):c.*775C>A	SNV	Uncertain Significance	315678	rs886051075	GRCh37: 15:35081838-35081838 GRCh38: 15:34789637-34789637
49	ACTC1, GJD2-DT	NM_005159.4(ACTC1):c.*1797C>A	SNV	Uncertain Significance	315650	rs886051063	GRCh37: 15:35080816-35080816 GRCh38: 15:34788615-34788615
50	ACTC1, GJD2-DT	NM_005159.4(ACTC1):c.*561C>A	SNV	Uncertain Significance	315689	rs886051083	GRCh37: 15:35082052-35082052 GRCh38: 15:34789851-34789851

Sources

Expression for Atrial Heart Septal Defect

Search GEO for disease gene expression data for Atrial Heart Septal Defect.

Sources

Pathways for Atrial Heart Septal Defect

Pathways related to Atrial Heart Septal Defect according to GeneCards Suite gene sharing:

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 2 - plateau phase ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.56	TBX5 NKX2-5 MYH6 GATA4 DMD
2	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.2	TBX5 NPPB NKX2-5 GATA4
3	22q11.2 copy number variation syndrome ⁷⁴	11.81	PRODH NKX2-5 FOXC1
4	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁵	11.75	TBX5 SMARCA4 NKX2-5 GATA4
5	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	11.63	TBX5 NKX2-5 GATA4
6	Transcription Ligand-dependent activation of the ESR1/SP pathway ²² Show member pathways Development Ligand-dependent activation of the ESR1/AP-1 pathway ²²	11.43	SMARCA4 CREBBP ACTL6A
7	Cardiac progenitor differentiation ⁷⁴	11.08	TBX5 TBX20 NKX2-5 MYH6 GATA4
8	Hematopoietic stem cell gene regulation by GABP alpha/beta complex ⁷⁴	10.8	SMARCA4 CREBBP
9	Cardiomyocyte Differentiation through BMP Receptors ⁶⁴	10.78	NPPB NKX2-5 GATA4
10	Heart development ⁷⁴	10.69	TBX5 TBX20 NKX2-5 GATA4 FOXC1
11	YAP1- and WWTR1 (TAZ)-stimulated gene expression ⁶⁶	10.51	TBX5 NKX2-5 GATA4
12	HOP Signaling ⁶⁴	10.15	GATA4 NKX2-5

Sources

GO Terms for Atrial Heart Septal Defect

Cellular components related to Atrial Heart Septal Defect according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein-containing complex	GO:0032991	9.8	TBX5 SMARCA4 RPL5 NPPB NKX2-5 DMD
2	chromatin	GO:0000785	9.58	TBX5 TBX20 SMARCA4 NKX2-5 GATA4 FOXC1

Biological processes related to Atrial Heart Septal Defect according to GeneCards Suite gene sharing:

(show all 21)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of transcription by RNA polymerase II	GO:0045944	10.5	TBX5 TBX20 SMARCA4 NKX2-5 GATA4 FOXC1
2	positive regulation of DNA-templated transcription	GO:0045893	10.28	TBX5 TBX20 SMARCA4 NKX2-5 GATA4 FOXC1
3	heart looping	GO:0001947	10.06	TBX20 NKX2-5 GATA4
4	cardiac muscle contraction	GO:0060048	10.01	NKX2-5 MYH6 DMD
5	heart morphogenesis	GO:0003007	9.97	NKX2-5 FOXC1 CHD7
6	aortic valve morphogenesis	GO:0003180	9.97	TBX20 NKX2-5 GATA4
7	cardiac muscle cell proliferation	GO:0060038	9.95	TBX5 NKX2-5 FOXC1
8	endocardial cushion development	GO:0003197	9.89	TBX5 GATA4
9	regulation of DNA-templated transcription	GO:0006355	9.89	TBX5 TBX20 SMARCA4 SETBP1 NKX2-5 GATA4
10	atrioventricular node development	GO:0003162	9.86	GATA4 NKX2-5
11	mesenchymal cell development	GO:0014031	9.85	FOXC1 TBX20
12	atrioventricular node cell development	GO:0060928	9.83	TBX5 NKX2-5
13	bundle of His development	GO:0003166	9.81	TBX5 NKX2-5
14	adult heart development	GO:0007512	9.8	NKX2-5 MYH6 CHD7
15	embryonic heart tube development	GO:0035050	9.77	TBX20 NKX2-5 FOXC1
16	cardiac muscle cell differentiation	GO:0055007	9.76	GATA4 NKX2-5 TBX5
17	cardiac ventricle morphogenesis	GO:0003208	9.75	NKX2-5 GATA4
18	atrioventricular node cell fate commitment	GO:0060929	9.73	TBX5 NKX2-5
19	atrioventricular canal development	GO:0036302	9.73	CHD7 GATA4 TBX20
20	positive regulation of cardioblast differentiation	GO:0051891	9.63	TBX5 NKX2-5 GATA4
21	atrial septum morphogenesis	GO:0060413	9.23	TBX5 TBX20 NKX2-5 GATA4

Molecular functions related to Atrial Heart Septal Defect according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription factor binding	GO:0140297	9.5	HDAC8 GATA4 FOXC1 CREBBP
2	RNA polymerase II-specific DNA-binding transcription factor binding	GO:0061629	9.4	TBX5 TBX20 NKX2-5 GATA4 FOXC1 CREBBP