Congenital Heart Defect malady

MedlinePlus: If you're like most people, you think that heart disease is a problem for other folks. but heart disease is the number one killer in the u.s. it is also a major cause of disability. there are many different forms of heart disease. the most common cause of heart disease is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. this is called coronary artery disease and happens slowly over time. it's the major reason people have heart attacks. other kinds of heart problems may happen to the valves in the heart, or the heart may not pump well and cause heart failure. some people are born with heart disease. you can help reduce your risk of heart disease by taking steps to control factors that put you at greater risk: control your blood pressure lower your cholesterol don't smoke get enough exercise nih: national heart, lung, and blood institute²³

MalaCards: Congenital Heart Defect, also known as heart diseases, is related to coronary heart disease and ischemic heart disease. An important gene associated with Congenital Heart Defect is DTNA (dystrobrevin, alpha), and among its related pathways are Regulation of Signaling by NODAL and HOP Signaling. The drugs enalaprilat and nitroglycerin and the compounds zinc and alanine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, heart and lung, and related mouse phenotypes are limbs/digits/tail and liver/biliary system.

Disease Ontology: A cardiovascular system disease that involves the heart or blood vessels (arteries and veins).⁶

CDC:  ²

Wikipedia: A congenital heart defect (CHD) is a defect in the structure of the heart and great vessels which is...⁴⁴ more...

Aliases & Descriptions:

congenital heart defect 6 8 heart diseases 17 32 23 43 congenital heart disease 44 32 43 congenital heart defects 6 17 23 heart failure 8 32 23 heart disease 6 8 thyroid hormone plasma membrane transport defect 43

congenital anomaly of heart 6 neonatal hemochromatosis 43 heart defects congenital 32 congestive heart failure 43 heart malformation 6 heart defect 6

Diseases related to congenital heart defect by text searches and GeneDecks gene sharing:

(show top 50)    (show all 721)

id	Related Disease	Score	Top Affiliating Genes
1	coronary heart disease	37.0	MTHFR, MTR, FGA, F2, CBS, CAT
2	ischemic heart disease	36.1	FGA, GJA1, NOS3, EDN1, SOD1, NPPA
3	atrioventricular septal defect	31.9	AVSD1, EVC, EVC2, GJA1, TBX1, TBX5
4	takayasu's arteritis	31.8	MTHFR, APOH, F2, EDN1
5	pulmonary hypertension	31.5	FGA, NOS3, EDN1, NPPA, NPPB
6	conotruncal heart malformations	31.5	CFC1, TBX1, NKX2-6, GDF1
7	insulin resistance	31.1	MTHFR, MTR, APOH, CAT, PTPN11, NOS3
8	left ventricular noncompaction with congenital heart defects	31.1	DTNA, DTNB
9	transposition of great arteries	30.8	ZIC3, CFC1, MED24, MED13L, NPPB, NKX2-5
10	heart valve disease	30.7	APOH, NPPA, NPPB
11	ventricular septal defect	30.7	JAG1, TBX5, NPPB, NKX2-5, GATA4
12	central sleep apnea	30.6	NOS3, NPPA, NPPB
13	heterotaxy	30.0	ZIC3, CFC1, GJA1, NODAL
14	heart septal defect	29.9	TBX5, NKX2-5, GATA4
15	atrial heart septal defect	29.9	CFC1, TBX1, NKX2-5, MYH6
16	mitral valve stenosis	29.8	FGA, NPPA, NPPB
17	holt-oram syndrome	29.8	TBX1, TBX5, NKX2-5, MYH6
18	diabetes mellitus	29.6	MTHFR, MTHFD1, ATP2A2, MKKS, FGA, APOH
19	atherosclerosis	29.5	BHMT, MTRR, MTHFR, MTR, MTHFD1, FGA
20	type 2 diabetes mellitus	29.5	MTHFR, MTHFD1, ATP2A2, FGA, APOH, F2
21	hypercholesterolemia	29.4	MTHFR, FGA, APOH, F2, CBS, CAT
22	cholesterol	29.4	MTHFR, ATP2A2, FGA, MED24, APOH, F2
23	hyperlipidemia	29.4	MTRR, MTHFR, MTR, FGA, F2, CAT
24	patent foramen ovale	29.2	MTHFR, FGA, APOH, F2, NKX2-5
25	muscular dystrophy	29.2	F2, CASQ1, DTNA, DTNB, SUN2, SMN1
26	familial hypertrophic cardiomyopathy	29.2	PLN, NOS3, NPPB, SLN, MYH6
27	myocardial infarction	29.1	MTHFR, MTR, FGA, APOH, F2, CBS
28	hypertension	29.1	RFC1, MTRR, MTHFR, MTR, ATP2A2, JAG1
29	familial hypercholesterolemia	29.0	MTHFR, APOH, F2, CBS, NOS3, EDN1
30	anencephaly	28.9	MTRR, MTHFR, MTR, MTHFD1, AFP
31	tetralogy of fallot	28.8	CITED2, MTHFR, CFC1, JAG1, MKKS, CAT
32	orofacial cleft	28.6	BHMT, MTRR, MTHFR, MTR, MTHFD1, CBS
33	pulmonary edema	28.2	F2, NOS3, EDN1, NPPA, NPPB
34	cleft lip	28.2	RFC1, BHMT, MTRR, MTHFR, MTR, MTHFD1
35	achalasia	28.1	ATP2A2, CASQ1, PLN, NOS3
36	coloboma	28.0	EXT1, TRPS1, TBX5, TCOF1, STRA6, SOD1
37	double outlet right ventricle	28.0	CFC1, TBX1, NKX2-5, NKX2-6, GATA4, GDF1
38	birth defects	27.9	MTRR, MTHFR, MTR, MTHFD1, TCN2, AFP
39	congenital diaphragmatic hernia	27.9	NOS3, WT1, EDN1, HCCS, STRA6, GATA4
40	atrial fibrillation	27.9	MTHFR, MTR, FGA, F2, GJA1, TBX5
41	hernia	27.9	F2, NOS3, WT1, EDN1, HCCS, STRA6
42	methylmalonic aciduria and homocystinuria	27.8	MTR, CBS, TCN2
43	childhood leukemia	27.8	MTHFR, MTR, PTPN11, WT1, SLC19A1
44	down syndrome	27.8	RFC1, MTRR, MTHFR, MTR, CBS, CAT
45	obesity	27.7	BHMT, MTRR, MTHFR, MTR, MKKS, FGA
46	coronary artery anomaly	27.7	MTRR, MTHFR, MTR, FGA, CBS, NOS3
47	congestive heart failure	27.7	F2, CAT, PLN, NOS3, EDN1, SOD1
48	neurocirculatory asthenia	27.6	B3GAT3, CAT, SOD1, NPPA
49	homocystinuria	27.5	BHMT, MTRR, MTHFR, MTR, CBS, TCN2
50	hypothyroidism	27.5	F2, TTF2, SOD1, NPPA, NPPB, NKX2-5

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 amrinone, amrinone lactate, benazepril, benazepril hydrochloride, bendroflumethiazide, benzthiazide, bumetanide, candesartan, candesartan cilexetil, captopril, chlorothiazide, chlorothiazide sodium, chlorthalidone, coenzyme q10, cyclothiazide, enalapril, enalapril maleate, enalaprilat, eprosartan, eprosartan mesylate, ethacrynate sodium, ethacrynic acid, fenoldopam, fenoldopam mesylate, fosinopril, fosinopril sodium, furosemide, hydralazine, hydralazine hydrochloride, hydrochlorothiazide, hydroflumethiazide, inamrinone, inamrinone lactate, indapamide, isosorbide, isosorbide dinitrate, isosorbide mononitrate, lisinopril, losartan, losartan potassium, methyclothiazide, metolazone, milrinone, milrinone lactate, moexipril, moexipril hydrochloride, nitroglycerin, olmesartan, olmesartan medoxomil, perindopril, perindopril erbumine, polythiazide, quinapril, quinapril hydrochloride, quinethazone, ramipril, sodium nitroprusside, somatotropin, somatrem, somatropin, somatropin (recombinant dna origin), spironolactone, spironolactone pwdr [va product], telmisartan, torsemide, trandolapril, trichlormethiazide, valsartan

MalaCards organs/tissues related to congenital heart defect:

²²

MGI Mouse Phenotypes related to congenital heart defect:

²⁵ (show all 26)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail phenotype	MP:0005371	INF	, DTNA, TBX1, TBX5, SMN1, CREBBP
2	liver/biliary system phenotype	MP:0005370	INF	NF1, HEY2, SOD1, SLC19A1, GATA6, GATA4
3	skeleton phenotype	MP:0005390	INF	ZIC3, MTHFR, , JAG1, JARID2,
4	craniofacial phenotype	MP:0005382	INF	GDF1, ZIC3, CITED2, JAG1, , FOXC1
5	respiratory system phenotype	MP:0005388	INF	NKX2-5, , GATA6, GATA4, GDF1, TCOF1
6	muscle phenotype	MP:0005369	INF	COL6A1, ATP2A2, JAG1, TBX5, SUN2, SMN1
7	mortality/aging	MP:0010768	INF	, AFP, GATA6, GATA4, GDF1, MYH6
8	renal/urinary system phenotype	MP:0005367	INF	, NF1, , NPPA, SLC19A1, GDF1
9	behavior/neurological phenotype	MP:0005386	INF	SMN1, CREBBP, PLN, NOS3, NF1, ACVR1
10	normal phenotype	MP:0002873	INF	CREBBP, , , NF1, ,
11	immune system phenotype	MP:0005387	INF	, NOS3, , NF1, , SOD1
12	integument phenotype	MP:0010771	INF	SMAD2, SMN1, CREBBP, , NF1, SLC19A1
13	hearing/vestibular/ear phenotype	MP:0005377	INF	SMN1, NF1, EDN1, ACVR1, TCOF1, SOD1
14	hematopoietic system phenotype	MP:0005397	INF	, NF1, SLC19A1, NKX2-5, GATA4, GDF1
15	digestive/alimentary phenotype	MP:0005381	INF	SMN1, CREBBP, , NOS3, , EDN1
16	cardiovascular system phenotype	MP:0005385	INF	, HEY2, TDGF1, SOD1, NPPA, NPPB
17	cellular phenotype	MP:0005384	INF	ACVR1, , NF1, COL6A1, , NOS3
18	nervous system phenotype	MP:0003631	INF	EDN1, NF1, , CREBBP, SMN1, SMAD2
19	endocrine/exocrine gland phenotype	MP:0005379	INF	GDF1, AFP, SLC19A1, , NF1, TBX1
20	growth/size phenotype	MP:0005378	INF	PTPN11, ZIC3, BHMT, CITED2, MTRR, MED24
21	reproductive system phenotype	MP:0005389	INF	SUN2, SMAD2, SMN1, , AFP, GATA4
22	homeostasis/metabolism phenotype	MP:0005376	INF	PLN, NOS3, , NF1, , EDN1
23	vision/eye phenotype	MP:0005391	INF	PTPN11, SMAD2, , NOS3, , NF1
24	no phenotypic analysis	MP:0003012	INF	GATA4, NKX2-5, RYR2, COL6A1, , SMN1
25	embryogenesis phenotype	MP:0005380	INF	TCOF1, SLC19A1, RYR2, NKX2-5, , GATA6
26	tumorigenesis	MP:0002006	INF	, NF1, RYR2, ADAM15, CREBBP, SMAD2

Articles related to congenital heart defect:

(show top 50)    (show all 73)

id	Title	Authors	Year	Affiliating Genes
1	Meta analysis of the association between MTHFR C677T polymorphism and the risk of congenital heart defects. (22175539)	Yin M.... Xu Z.	2012	MTHFR
2	ALK2 mutation in a patient with Down's syndrome and a congenital heart defect. (21248739)	Joziasse I.C.... Bakkers J.	2011	ACVR1
3	Alpha-cardiac myosin heavy chain (MYH6) mutations aff ecting myofibril formation are associated with congenital heart defects. (20656787)	Granados-Riveron J.T.... David Brook J.	2010	MYH6
4	Diagnostic performance of BNP and NT-ProBNP measureme nts in children with heart failure based on congenital heart defects and cardio myopathies. (20709045)	A9ahin M.... A9zkutlu S.	2010	NPPB
5	Maternal folate-related gene environment interactions and congenital heart defects. (20664391)	Hobbs C.A.... MacLeod S.L.	2010	BHMT, MTHFR, TCN2
6	Identification of GATA6 sequence variants in patients with congenital heart defects. (20581743)	Maitra M.... Garg V.	2010	GATA6
7	An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psy chomotor retardation and convulsions. (19464398)	Verheij J.B.... van Ravenswaaij-Arts C.M.	2009	EXT1, TRPS1
8	Amino terminal pro B-type natriuretic peptide levels are elevated in the cord blood of neonates with congenital heart defect. (19581836)	Lechner E.... Tulzer G.	2009	NPPB
9	Specific local cardiovascular changes of Nepsilon-(carboxymethyl)lysine, vascular endothelial growth factor, and Smad2 in the developing embryos coincide with maternal diabetes-induced congenital heart defects. (19188426)	Roest P.A.... Gittenberger-de Groot A.C.	2009	SMAD2
10	The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects. (18767138)	Christensen K.E.... Rozen R.	2009	MTHFD1
11	Teratocarcinoma-derived growth factor 1 (TDGF1) seque nce variants in patients with congenital heart defect. (19853938)	Wang B.... Ma X.	2009	TDGF1
12	Identification of second trimester screen positive pr egnancies at increased risk for congenital heart defects. (19266536)	Jelliffe-Pawlowski L.L.... Currier R.J.	2009	AFP
13	A duplication including GATA4 does not co-segregate w ith congenital heart defects. (19353638)	Joziasse I.C.... Doevendans P.A.	2009	GATA4
14	Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature. (18266240)	Menke L.A.... Cobben J.M.	2008	SMN1
15	Methionine synthase reductase deficiency results in adverse reproductive outcomes and congenital heart defects in mice. (18413293)	Deng L.... Rozen R.	2008	MTRR
16	Genetic and lifestyle factors related to the periconception vitamin B12 status and congenital heart defects: a Dutch case-control study. (18226574)	Verkleij-Hagoort A.C.... Steegers-Theunissen R.P.	2008	MTRR, TCN2
17	Common 894G>T single nucleotide polymorphism in the gene coding for endothelial nitric oxide synthase (eNOS) and risk of congenital heart defects. (18844489)	van Beynum I.M.... Blom H.J.	2008	NOS3
18	Eight-fold increased risk for congenital heart defects in children carrying the nicotinamide N-methyltransferase polymorphism and exposed to medicines and low nicotinamide. (18441319)	van Driel L.M.... Steegers-Theunissen R.P.	2008	NNMT
19	Homocysteine concentrations and molecular analysis in patients with congenital heart defects. (17227731)	Galdieri L.C.... D'Almeida V.	2007	CBS, MTHFR
20	Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. (17924340)	Karkera J.D.... Muenke M.	2007	GDF1
21	Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother? (17497718)	Wieczorek D.... Gillessen-Kaesbach G.	2007	TCOF1
22	Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. (17431894)	Verkleij-Hagoort A.... Steegers-Theunissen R.	2007	MTHFR
23	Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study. (17188582)	Canter J.A.... Barr F.E.	2007	CPS1
24	SERCA2a, phospholamban, sarcolipin, and ryanodine receptors gene expression in children with congenital heart defects. (17515962)	Vittorini S.... Clerico A.	2007	ATP2A2, RYR2, PLN
25	Non-optimal maturation of the oocyte, maternal MTHFR polymorphisms, periconceptional folate, and decrease of congenital heart defects. (17575269)	Jongbloet P.H.	2007	MTHFR
26	Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation. (16524890)	van Beynum I.M.... Blom H.J.	2006	MTHFR
27	Two novel missense mutations of GATA4 gene in Chinese patients with sporadic congenital heart defects. (16604480)	Tang Z.H.... Liu M.G.	2006	GATA4
28	Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial defects and congenital heart defects in China. (16019224)	Pei L.... Li Z.	2006	RFC1, SLC19A1
29	Increased plasma levels of natriuretic peptide type B and A in children with congenital heart defects with left compared with right ventricular volume overload or pressure overload. (16117728)	Holmgren D.... Wahlander H.	2005	NPPB, NPPA
30	Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. (16287139)	Sperling S.... Hammer S.	2005	CITED2
31	Maternal methylenetetrahydrofolate reductase deficiency and low dietary folate lead to adverse reproductive outcomes and congenital heart defects in mice. (16002818)	Li D.... Rozen R.	2005	MTHFR
32	Relationship between polymorphism of methylenetetrahydrofolate dehydrogenase and congenital heart defect. (15861780)	Cheng J.... Li Y.	2005	MTHFD1
33	Evidence by expression analysis of candidate genes fo r congenital heart defects in the NF1 microdeletion interval. (16138909)	Venturin M.... Riva P.	2005	NF1, NKX2-5, SUZ12
34	Study on the association between reduced folate carrier gene polymorphism and congenital heart defects and cleft lip with or without cleft palate (15769366)	Pei L.J.... Li Z.	2004	RFC1, SLC19A1
35	Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients. (15060116)	Rauch A.... Hofbeck M.	2004	TBX1
36	Antioxidant status in newborns and infants suffering from congenital heart defects. (14969161)	Rokicki W.... Sobczak A.	2003	SOD1, CAT
37	Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. (12960218)	Sarkozy A.... Dallapiccola B.	2003	PTPN11
38	Tetralogy of fallot and other congenital heart defects in Hey2 mutant mice. (12372254)	Donovan J.... Utset M.F.	2002	JAG1, HEY2
39	Occult fibrin production during surgery in cyanotic congenital heart defects and extracorporeal circulation (10510620)	Kucera V.... HucA-n B.	1999	F2, FGA
40	Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects. (10474162)	Swiderski R.E.... Lin J.J.	1999	FOXC1
41	A rapid procedure for the quantitation of natriuretic peptide RNAs by competitive RT-PCR in congenital heart defects. (10710270)	Iascone M.R.... Clerico A.	1999	NPPB, NPPA
42	Jagged1 mutations in patients ascertained with isolated congenital heart defects. (10213047)	Krantz I.D.... Spinner N.B.	1999	JAG1
43	Misregulation of connexin43 gap junction channels and congenital heart defects. (10207906)	Dasgupta C.... Fletcher W.H.	1999	GJA1
44	A population-based prospective evaluation of risk of sudden cardiac death after operation for common congenital heart defects. (9669277)	Silka M.J.... Morris C.D.	1998	TTF2
45	Placental pathologic conditions in anticardiolipin antibody positive women whose infants had congenital heart defects. (8866295)	Kowal-Vern A.... Husain A.	1996	APOH
46	Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome). (7486833)	Davies G.E.... Kessling A.M.	1995	COL6A1
47	Contents of alpha-fetoprotein in the blood of pregnant women as a criterion of the presence of congenital heart defects in the fetus (7485753)	VakharlovskiA- V.G.... Kashcheeva T.K.	1995	AFP
48	Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects. (7909528)	Davies G.E.... Kessling A.M.	1994	COL6A1
49	Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome. (8094066)	Davies G.E.... Kessling A.M.	1993	COL6A1, COL6A2
50	Lipid peroxidation and erythrocyte membrane function in congenital heart defects in relation to the use of beta-adrenoblockers (1362025)	Minkov I.P.	1992	SOD1

Genes related to congenital heart defect according to GeneCards:

(show top 50)    (show all 66)

id	Symbol	Description	Score	GeneCards Section Context
1	DTNA	dystrobrevin, alpha	11.1	Summaries, Orthologs
2	ZIC3	Zic family member 3	11.0	Publications
3	JAG1	jagged 1	11.0	Publications
4	DTNB	dystrobrevin, beta	11.0	Orthologs
5	OGS2	Opitz G syndrome, type II	11.0	Summaries
6	AVSD1	atrioventricular septal defect 1	11.0	Publications
7	GDF1	growth differentiation factor 1	11.0	Publications
8	HEY2	hairy/enhancer-of-split related with YRPW motif 2	11.0	Publications
9	SLN	sarcolipin	11.0	Publications
10	PLN	phospholamban	11.0	Publications
11	CASQ1	calsequestrin 1 (fast-twitch, skeletal muscle)	11.0	Publications
12	NNMT	nicotinamide N-methyltransferase	11.0	Publications
13	ADAM15	ADAM metallopeptidase domain 15	11.0	Publications
14	ADAP2	ArfGAP with dual PH domains 2	11.0	Publications
15	UTP6	UTP6, small subunit (SSU) processome component, homolog (yeast)	11.0	Publications
16	GATA6	GATA binding protein 6	11.0	Publications
17	COL6A1	collagen, type VI, alpha 1	11.0	Publications
18	NKX2-5	NK2 homeobox 5	11.0	Publications
19	CITED2	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	11.0	Publications
20	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	11.0	Publications
21	FOXC1	forkhead box C1	11.0	Publications
22	MED24	mediator complex subunit 24	11.0	Publications
23	STRA6	stimulated by retinoic acid gene 6 homolog (mouse)	11.0	Publications
24	SUN2	Sad1 and UNC84 domain containing 2	11.0	Expressions
25	TCN2	transcobalamin II	11.0	Publications
26	BHMT	betaine--homocysteine S-methyltransferase	11.0	Publications
27	TDGF1	teratocarcinoma-derived growth factor 1	11.0	Publications
28	RFC1	replication factor C (activator 1) 1, 145kDa	11.0	Publications
29	MTHFD1	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	11.0	Publications
30	TCOF1	Treacher Collins-Franceschetti syndrome 1	11.0	Publications
31	SLC19A1	solute carrier family 19 (folate transporter), member 1	11.0	Publications
32	CBS	cystathionine-beta-synthase	11.0	Publications
33	COL6A2	collagen, type VI, alpha 2	11.0	Publications
34	GATA4	GATA binding protein 4	11.0	Publications
35	TBX1	T-box 1	11.0	Publications
36	TTF2	transcription termination factor, RNA polymerase II	11.0	Publications
37	ATP2A2	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	11.0	Publications
38	MED13L	mediator complex subunit 13-like	11.0	Publications
39	TBX5	T-box 5	11.0	Publications
40	CPS1	carbamoyl-phosphate synthase 1, mitochondrial	11.0	Publications
41	SUZ12	suppressor of zeste 12 homolog (Drosophila)	11.0	Publications
42	FGA	fibrinogen alpha chain	11.0	Publications
43	ACVR1	activin A receptor, type I	11.0	Publications
44	MTHFR	methylenetetrahydrofolate reductase (NAD(P)H)	11.0	Publications
45	MYH6	myosin, heavy chain 6, cardiac muscle, alpha	11.0	Publications
46	GJA1	gap junction protein, alpha 1, 43kDa	11.0	Publications
47	NPPA	natriuretic peptide A	11.0	Publications
48	EXT1	exostosin 1	11.0	Publications
49	MTR	5-methyltetrahydrofolate-homocysteine methyltransferase	11.0	Publications
50	JARID2	jumonji, AT rich interactive domain 2	11.0	Publications

Pathways related to congenital heart defect according to GeneDecks:

(show all 13)

id	Pathway	Score	Top Affiliating Genes
1	Regulation of Signaling by NODAL38	INF	, , TDGF1
2	HOP Signaling36	10.2	GATA4, NKX2-5, NPPA
3	Transcriptional Regulatory Network in Embryonic Stem Cell36	10.1	ZIC3, JARID2, FOXC1, GATA6, GATA4
4	Antimetabolite Pathway - Folate Cycle, Pharmacodynamics34	10.1	CBS, MTHFD1, MTR, MTHFR, MTRR
5	Methionine metabolism10	10.1	BHMT, MTR, CBS
6	Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics34	10.1	CBS, MTHFD1, MTR, MTHFR, MTRR
7	Methotrexate Pathway (Cancer Cell), Pharmacodynamics34	10.0	MTRR, MTHFR, MTR, MTHFD1, CBS, SLC19A1
8	Cardiomyocyte Differentiation through BMP Receptors36	9.9	NPPA, NPPB, NKX2-5, GATA4
9	BMP Pathway36	9.6	GATA4, GATA6, NKX2-5, ACVR1, CREBBP
10	Factors Promoting Cardiogenesis in Vertebrates36	9.6	GATA4, NKX2-5, NPPB, NPPA, TDGF1, ACVR1
11	Antiarrhythmic Pathway, Pharmacodynamics34	9.2	RYR2, PLN, GJA1, CASQ1, ATP2A2
12	Wnt / Hedgehog / Notch3	INF	GATA6, AFP, NKX2-5, TDGF1, , FOXC1
13	Angiogenesis3	INF	TDGF1, , NOS3, PLN, CREBBP, JAG1

Compounds related to congenital heart defect according to GeneDecks:

(show top 50)    (show all 87)

id	Compound	Score	Top Affiliating Genes
1	zinc32 18	INF	, SOD1, NPPB, NKX2-5, , AFP
2	alanine32	INF	SLC19A1, , AFP, , SOD1, TTF2
3	b vitamins32	10.3	MTRR, MTHFR, MTR, CBS
4	hydroxocobalamin32 9 9	12.3	MTRR, MTHFR, MTR, TCN2
5	cyanocobalamin34 9 18 9	13.3	MTR, MTHFR, TCN2, MTRR
6	5,10-methenyltetrahydrofolate32	10.3	CBS, MTHFR, MTHFD1, MTR
7	methylcobalamin32 18	11.3	MTHFR, TCN2, CBS, MTR, MTRR
8	10-formyltetrahydrofolate32	10.2	MTHFD1, MTR, MTHFR, SLC19A1
9	betaine32 18	11.2	MTR, BHMT, MTHFR, MTRR, CBS
10	5-methyltetrahydrofolate32 9 9	12.2	MTHFR, SLC19A1, CBS, MTR, MTRR
11	methylmalonic acid32 18	11.2	MTR, TCN2, MTRR, CBS, MTHFR
12	tetrahydrofolate32	10.2	MTR, MTRR, MTHFR, SLC19A1
13	cobalamin32 18	11.2	TCN2, MTRR, MTHFR, MTR, MTHFD1, CBS
14	vitamin b632	10.1	CBS, TCN2, BHMT, MTR, MTHFD1, MTHFR
15	cystathionine32	10.1	TCN2, CBS, MTHFD1, MTR, MTHFR, MTRR
16	adenosylcobalamin32 18	11.0	MTHFR, TCN2, MTR
17	s-adenosylmethionine32 9 18 9	12.9	NNMT, BHMT, MTRR, MTHFR, MTR, CBS
18	11-dehydrothromboxane b232	9.9	CBS, F2, APOH, FGA
19	6-ketoprostaglandin f1alpha32	9.8	NPPA, FGA, APOH, EDN1
20	fibrinogen32	9.8	FGA, APOH, CBS, TTF2, PTPN11, ADAM15
21	1,3-dimethyl-2-thiourea32	9.7	CAT, EDN1, SOD1
22	vitamin b1232	9.7	CBS, AFP, MTRR, TCN2, MTHFR, APOH
23	trimetazidine32	9.6	EDN1, CAT, SOD1
24	warfarin32 34 9 18 9	13.5	MTHFR, FGA, ACVR1, F2, APOH, TTF2
25	oxypurinol32	9.4	CAT, NOS3, SOD1
26	methionine32	9.3	MTHFD1, GJA1, CREBBP, PTPN11, TCN2, NF1
27	p00332	9.2	NPPB, CREBBP, GJA1, APOH, MTRR, TTF2
28	ryanodine32	9.1	MYH6, GATA4, RYR2, NPPB, GJA1, CASQ1
29	allopurinol32 9 9	11.1	NPPB, SOD1, CAT, NOS3
30	uric acid32 18	10.1	NPPB, MTHFR, CAT, AFP, SOD1, TTF2
31	folate32	9.0	CBS, BHMT, MTRR, MTHFR, TCN2, APOH
32	isoproterenol32 9 9	10.9	GJA1, CREBBP, NPPA, RYR2, MYH6
33	ng-nitro-l-arginine32	8.7	NPPA, SOD1, EDN1, NOS3
34	8-isoprostane32	8.7	APOH, CAT, NOS3, EDN1, SOD1, NPPB
35	l-nmma32	8.7	NPPA, SOD1, EDN1, NOS3, CAT, NPPB
36	methotrexate32 34 42 9 9	12.7	CBS, MTRR, MTR, MTHFR, NOS3, SLC19A1
37	s-nitroso-n-acetylpenicillamine32	8.6	CAT, GJA1, EDN1, SOD1, NPPA, NOS3
38	cysteine32	8.6	NPPB, SLC19A1, COL6A1, CREBBP, TTF2, SMAD2
39	carvedilol32 34 9 9	11.5	GJA1, NOS3, EDN1, NPPA, NPPB, RYR2
40	prostacyclin32	8.4	NOS3, FGA, NPPA, EDN1, SOD1, APOH
41	homocysteine32 18	9.2	MTR, BHMT, MTRR, MTHFR, MTHFD1, APOH
42	glutamate32	8.2	SLC19A1, APOH, GJA1, CBS, MTRR, MTHFR
43	oxygen32 18	9.2	MYH6, NPPB, NPPA, TTF2, NOS3, CREBBP
44	estrogen32	INF	NPPA, MTHFR, MTR, APOH, F2, CREBBP
45	doxorubicin32 34 9 9	INF	CAT, NPPB, CREBBP, NOS3, GJA1,
46	arginine32	INF	NPPB, EDN1, NF1, APOH, CBS, RFC1
47	serine32	INF	NF1, NOS3, CREBBP, NPPB, SMAD2, PTPN11
48	calcium32 9 18 9	INF	SLN, NPPB, TTF2, RYR2, ACVR1, EDN1
49	creatinine32	INF	MTHFR, NPPA, SOD1, TCN2, TTF2, EDN1
50	nitric oxide32 9 18 9	INF	MTR, ATP2A2, MTRR, SOD1, JAG1, APOH

Cellular components related to congenital heart defect according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	sarcoplasmic reticulum	GO:016529	9.1	RYR2, SLN, PLN, ATP2A2
2	protein complex	GO:043234	8.2	BHMT, CPS1, RYR2, SOD1, STRA6, COL6A2
3	extracellular space	GO:005615	INF	AFP, NPPB, SOD1, TCN2, TDGF1, EDN1

Biological processes related to congenital heart defect according to GeneDecks:

(show all 46)

id	Name	GO ID	Score	Top Affiliating Genes
1	heart looping	GO:001947	INF	GATA4, NKX2-5, , GJA1, , CITED2
2	positive regulation of transcription, DNA-dependent	GO:045893	INF	GATA4, , NKX2-5, ACVR1, , CREBBP
3	positive regulation of transcription from RNA polymerase II promoter	GO:045944	INF	ACVR1, HEY2, TDGF1, NKX2-5, , GATA6
4	heart development	GO:007507	INF	CITED2, ADAP2, NPPB, STRA6, TDGF1, EDN1
5	positive regulation of cell proliferation	GO:008284	INF	, , NKX2-5, TDGF1, EDN1, SUZ12
6	pulmonary artery morphogenesis	GO:061156	10.6	STRA6, HEY2, JAG1, CITED2
7	cardiac right ventricle morphogenesis	GO:003215	10.6	GATA4, HEY2, JAG1
8	outflow tract septum morphogenesis	GO:003148	10.5	GATA6, NKX2-5, TBX1
9	positive regulation of cardioblast differentiation	GO:051891	10.5	GATA4, GATA6, NKX2-5, TBX5
10	endocardial cushion development	GO:003197	10.5	GATA4, TBX5, CITED2
11	positive regulation of cardiac muscle cell proliferation	GO:060045	10.5	GATA4, GATA6, HEY2, TBX5
12	smooth muscle cell differentiation	GO:051145	10.5	GATA6, HEY2, ACVR1
13	methionine biosynthetic process	GO:009086	10.5	MTHFD1, MTHFR, MTRR, BHMT
14	folic acid metabolic process	GO:046655	10.4	SLC19A1, MTHFD1, MTHFR
15	cardiac muscle cell differentiation	GO:055007	10.4	TBX5, TDGF1, NKX2-5, GATA6, GATA4
16	regulation of calcium ion transport	GO:051924	10.4	SLN, PLN, GJA1
17	ventricular septum development	GO:003281	10.4	GATA4, STRA6, TBX5
18	adult heart development	GO:007512	10.3	MYH6, NKX2-5, GJA1
19	cellular response to fibroblast growth factor stimulus	GO:044344	10.3	CPS1, TDGF1, TBX1
20	homocysteine metabolic process	GO:050667	10.3	CPS1, CBS, MTR, MTHFR
21	BMP signaling pathway	GO:030509	10.2	MYH6, GATA4, NKX2-5, TDGF1, ACVR1
22	regulation of the force of heart contraction	GO:002026	10.1	MYH6, PLN, ATP2A2
23	thymus development	GO:048538	10.1	CITED2, JARID2, TBX1, SOD1
24	artery morphogenesis	GO:048844	9.9	STRA6, NF1, TBX1
25	regulation of blood vessel size	GO:050880	9.8	NPPB, NPPA, NOS3, CBS
26	regulation of blood pressure	GO:008217	9.3	NOS3, SOD1, NPPA, NPPB, MYH6
27	response to drug	GO:042493	8.9	GATA4, GATA6, CPS1, NPPB, SOD1, EDN1
28	in utero embryonic development	GO:001701	8.9	MYH6, GATA4, GATA6, TDGF1, ACVR1, EDN1
29	response to hypoxia	GO:001666	7.4	RYR2, NPPB, EDN1, NF1, NOS3, CREBBP
30	Notch signaling involved in heart development	GO:061314	INF	HEY2, , JAG1
31	vasculogenesis	GO:001570	INF	NKX2-5, TDGF1, HEY2, , CITED2
32	positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	GO:1900224	INF	, SMAD2
33	gastrulation	GO:007369	INF	, EXT1, SMAD2, TDGF1
34	negative regulation of transcription from RNA polymerase II promoter	GO:000122	INF	GATA6, , NKX2-5, HEY2, EDN1,
35	pharyngeal system development	GO:060037	INF	TBX1, ACVR1, NKX2-5,
36	response to denervation involved in regulation of muscle adaptation	GO:014894	INF	, CASQ1
37	liver development	GO:001889	INF	GATA6, AFP, NF1, , JARID2, CITED2
38	pulmonary valve morphogenesis	GO:003184	INF	STRA6, HEY2, , JAG1
39	SMAD protein signal transduction	GO:060395	INF	AFP, , GATA4
40	ventricular cardiac muscle cell development	GO:055015	INF	, NKX2-5, HEY2
41	pericardium development	GO:060039	INF	, SMAD2, TBX5
42	adrenal cortex formation	GO:035802	INF	, CITED2
43	negative regulation of cell proliferation	GO:008285	INF	, , NOS3, , SMAD2, TBX5
44	regulation of organ formation	GO:003156	INF	, CITED2
45	atrial septum morphogenesis	GO:060413	INF	GATA4, NKX2-5, HEY2,
46	determination of left/right symmetry	GO:007368	INF	ACVR1, , TBX1, , , CITED2

Molecular functions related to congenital heart defect according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	sequence-specific DNA binding transcription factor activity	GO:003700	INF	, HEY2, NKX2-5, , GATA6, GATA4
2	protein binding	GO:005515	INF	GATA4, , COL6A2, NF1, , ACVR1
3	transcription regulatory region DNA binding	GO:044212	INF	FOXC1, , NKX2-5, , GATA6, GATA4
4	modified amino acid binding	GO:072341	10.1	CPS1, CBS, MTHFR
5	peptide hormone receptor binding	GO:051428	9.6	PTPN11, NPPA, NPPB
6	chromatin binding	GO:003682	9.2	GATA4, GATA6, NKX2-5, SMAD2, SUZ12, JARID2
7	transcription factor binding	GO:008134	INF	GATA4, GATA6, , NKX2-5, HEY2, CREBBP
8	sequence-specific DNA binding	GO:043565	INF	HEY2, NKX2-5, , , GATA4,