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	ventricular septal defect

Disease ID	256
Disease	ventricular septal defect
Definition	Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect.
Synonym	defect interventricular septum defect, intraventricular septal defect, ventricular septal defects, intraventricular septal heart septal defects, ventricular heart septal defects, ventricular [disease/finding] interventricular septal defect interventricular septal defect (disorder) intraventricular septal defect intraventricular septal defects septal def.-ventricular septal defect, intraventricular septal defect, ventricular septal defects, intraventricular septal defects, ventricular septum interventricular patent ventricular sept defect ventricular septal abnormality ventricular septal abnormality (disorder) ventricular septal def. ventricular septal defect (disorder) ventricular septal defect (vsd) ventricular septal defect nos ventricular septal defect nos (disorder) ventricular septal defect, unspecified ventricular septal defect, unspecified (disorder) ventricular septal defects ventriculoseptal defect vsd vsd - ventricular septal defect
Orphanet	ORPHANET:1480
DOID	DOID:1657
ICD10	ICD10CM:Q21.0
UMLS	C0018818
MeSH	D006345
SNOMED-CT	SNOMEDCT_US_2016_09_01:30288003;SNOMEDCT_US_2016_09_01:253549006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:54) C0013069 \| double outlet right ventricle \| 7 C1956257 \| pulmonary stenosis \| 7 C0014118 \| endocarditis \| 7 C0152021 \| congenital heart disease \| 5 C0020542 \| pulmonary hypertension \| 5 C0040961 \| tricuspid regurgitation \| 4 C0027051 \| myocardial infarct \| 4 C0003504 \| aortic insufficiency \| 4 C0003505 \| aortic valve prolapse \| 4 C0014121 \| infective endocarditis \| 4 C0018799 \| heart disease \| 4 C0027051 \| myocardial infarction \| 4 C0018801 \| heart failure \| 4 C0026266 \| mitral regurgitation \| 3 C0040053 \| thrombosis \| 3 C0155626 \| acute myocardial infarction \| 3 C1619734 \| pulmonary arterial hypertension \| 3 C0003507 \| aortic stenosis \| 2 C0020538 \| hypertension \| 2 C0004245 \| atrioventricular block \| 2 C0018378 \| guillain-barre syndrome \| 1 C0011849 \| diabetes mellitus \| 1 C0878544 \| cardiomyopathy \| 1 C0019284 \| diaphragmatic hernia \| 1 C0014121 \| bacterial endocarditis \| 1 C0016522 \| patent foramen ovale \| 1 C0003507 \| aortic valve stenosis \| 1 C0018802 \| congestive cardiac failure \| 1 C0018801 \| cardiac failure \| 1 C0040034 \| thrombocytopenia \| 1 C0027059 \| myocarditis \| 1 C0018802 \| congestive heart failure \| 1 C0265264 \| holt-oram syndrome \| 1 C0018799 \| heart diseases \| 1 C0221215 \| common atrioventricular canal \| 1 C0011615 \| atopic dermatitis \| 1 C0027051 \| myocardial infarction (mi) \| 1 C1260873 \| aortic valve disease \| 1 C0003504 \| aortic valve insufficiency \| 1 C0917715 \| hajdu-cheney syndrome \| 1 C0026266 \| mitral insufficiency \| 1 C0010273 \| crouzon syndrome \| 1 C0026269 \| mitral stenosis \| 1 C0034089 \| pulmonary valve stenosis \| 1 C0003504 \| aortic regurgitation \| 1 C0014122 \| subacute bacterial endocarditis \| 1 C0152965 \| staphylococcal sepsis \| 1 C0003504 \| aortic valve regurgitation \| 1 C0005745 \| ptosis \| 1 C0152096 \| trisomy 18 \| 1 C0264766 \| rheumatic mitral stenosis \| 1 C0006384 \| bundle branch block \| 1 C0040015 \| glanzmann thrombasthenia \| 1 C0016045 \| fibroma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 5125 \| PCSK5 \| CTD_human 2056 \| EPO \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 6910 \| TBX5 \| CIPHER 2735 \| GLI1 \| CIPHER 2056 \| EPO \| CTD_human 5125 \| PCSK5 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:147) 34 \| ACADM \| 1.143 \| DISEASES 87 \| ACTN1 \| 1.417 \| DISEASES 94 \| ACVRL1 \| 2.683 \| DISEASES 84890 \| ADO \| 3.474 \| DISEASES 196528 \| ARID2 \| 1.423 \| DISEASES 414 \| ARSD \| 1.557 \| DISEASES 55252 \| ASXL2 \| 1.765 \| DISEASES 26033 \| ATRNL1 \| 2.938 \| DISEASES 54880 \| BCOR \| 2.629 \| DISEASES 80114 \| BICC1 \| 1.698 \| DISEASES 653 \| BMP5 \| 1.336 \| DISEASES 659 \| BMPR2 \| 1.802 \| DISEASES 390259 \| BSX \| 1.875 \| DISEASES 844 \| CASQ1 \| 1.485 \| DISEASES 54897 \| CASZ1 \| 2.456 \| DISEASES 81669 \| CCNL2 \| 1.81 \| DISEASES 916 \| CD3E \| 1.176 \| DISEASES 8318 \| CDC45 \| 1.555 \| DISEASES 55636 \| CHD7 \| 1.283 \| DISEASES 9469 \| CHST3 \| 1.372 \| DISEASES 10370 \| CITED2 \| 4.487 \| DISEASES 8218 \| CLTCL1 \| 3.395 \| DISEASES 1284 \| COL4A2 \| 1 \| DISEASES 51241 \| COX16 \| 3.008 \| DISEASES 78987 \| CRELD1 \| 6.76 \| DISEASES 1486 \| CTBS \| 1.454 \| DISEASES 8816 \| DCAF5 \| 2.734 \| DISEASES 613211 \| DEFB134 \| 3.141 \| DISEASES 613209 \| DEFB135 \| 3.337 \| DISEASES 1826 \| DSCAM \| 1.419 \| DISEASES 147409 \| DSG4 \| 2.653 \| DISEASES 1855 \| DVL1 \| 1.728 \| DISEASES 1892 \| ECHS1 \| 1.414 \| DISEASES 1906 \| EDN1 \| 1.928 \| DISEASES 133584 \| EGFLAM \| 1.929 \| DISEASES 79813 \| EHMT1 \| 1.203 \| DISEASES 2049 \| EPHB3 \| 1.356 \| DISEASES 2079 \| ERH \| 1.507 \| DISEASES 132884 \| EVC2 \| 1.863 \| DISEASES 51013 \| EXOSC1 \| 1.43 \| DISEASES 2155 \| F7 \| 1.87 \| DISEASES 2157 \| F8 \| 1.707 \| DISEASES 2170 \| FABP3 \| 1.994 \| DISEASES 2192 \| FBLN1 \| 1.036 \| DISEASES 101927075 \| FGF10-AS1 \| 2.191 \| DISEASES 2253 \| FGF8 \| 2.338 \| DISEASES 8928 \| FOXH1 \| 1.478 \| DISEASES 2550 \| GABBR1 \| 1.165 \| DISEASES 2626 \| GATA4 \| 5.244 \| DISEASES 9573 \| GDF3 \| 1.275 \| DISEASES 54826 \| GIN1 \| 1.69 \| DISEASES 10052 \| GJC1 \| 1.067 \| DISEASES 2737 \| GLI3 \| 1.523 \| DISEASES 54584 \| GNB1L \| 1.459 \| DISEASES 2882 \| GPX7 \| 1.536 \| DISEASES 2887 \| GRB10 \| 1.035 \| DISEASES 9464 \| HAND2 \| 2.598 \| DISEASES 3055 \| HCK \| 1.814 \| DISEASES 23493 \| HEY2 \| 1.923 \| DISEASES 9146 \| HGS \| 1.987 \| DISEASES 3150 \| HMGN1 \| 1.627 \| DISEASES 57594 \| HOMEZ \| 3.079 \| DISEASES 3476 \| IGBP1 \| 1.025 \| DISEASES 3586 \| IL10 \| 1.436 \| DISEASES 3767 \| KCNJ11 \| 1.808 \| DISEASES 9851 \| KIAA0753 \| 1.191 \| DISEASES 7044 \| LEFTY2 \| 1.348 \| DISEASES 3987 \| LIMS1 \| 3.034 \| DISEASES 55788 \| LMBRD1 \| 1.391 \| DISEASES 9782 \| MATR3 \| 1.556 \| DISEASES 4205 \| MEF2A \| 3.641 \| DISEASES 4208 \| MEF2C \| 4.095 \| DISEASES 57496 \| MKL2 \| 1.879 \| DISEASES 56180 \| MOSPD1 \| 3.21 \| DISEASES 4487 \| MSX1 \| 2.061 \| DISEASES 4519 \| MT-CYB \| 1.144 \| DISEASES 10408 \| MYCNOS \| 2.139 \| DISEASES 4624 \| MYH6 \| 2.306 \| DISEASES 4625 \| MYH7 \| 2.269 \| DISEASES 93649 \| MYOCD \| 1.748 \| DISEASES 54820 \| NDE1 \| 1.262 \| DISEASES 4772 \| NFATC1 \| 2.801 \| DISEASES 1482 \| NKX2-5 \| 5.379 \| DISEASES 4857 \| NOVA1 \| 1.587 \| DISEASES 79400 \| NOX5 \| 2.209 \| DISEASES 261734 \| NPHP4 \| 1.138 \| DISEASES 4878 \| NPPA \| 1.473 \| DISEASES 4879 \| NPPB \| 1.786 \| DISEASES 7025 \| NR2F1 \| 1.181 \| DISEASES 4916 \| NTRK3 \| 1.17 \| DISEASES 5005 \| ORM2 \| 1.823 \| DISEASES 5077 \| PAX3 \| 1.537 \| DISEASES 5089 \| PBX2 \| 1.632 \| DISEASES 5090 \| PBX3 \| 1.469 \| DISEASES 118425 \| PCAT4 \| 1.137 \| DISEASES 5125 \| PCSK5 \| 1.287 \| DISEASES 5361 \| PLXNA1 \| 1.456 \| DISEASES 5362 \| PLXNA2 \| 1.446 \| DISEASES 10585 \| POMT1 \| 1.028 \| DISEASES 10743 \| RAI1 \| 1.689 \| DISEASES 64901 \| RANBP17 \| 2.315 \| DISEASES 4920 \| ROR2 \| 1.408 \| DISEASES 6238 \| RRBP1 \| 1.913 \| DISEASES 6262 \| RYR2 \| 1.167 \| DISEASES 404552 \| SCGB1D4 \| 1.705 \| DISEASES 9919 \| SEC16A \| 2.38 \| DISEASES 462 \| SERPINC1 \| 1.424 \| DISEASES 253970 \| SFTA3 \| 2.1 \| DISEASES 8036 \| SHOC2 \| 1.195 \| DISEASES 10572 \| SIVA1 \| 1.586 \| DISEASES 347734 \| SLC35B2 \| 3.854 \| DISEASES 285641 \| SLC36A3 \| 2.324 \| DISEASES 55334 \| SLC39A9 \| 2.324 \| DISEASES 55974 \| SLC50A1 \| 1.129 \| DISEASES 6547 \| SLC8A3 \| 1.507 \| DISEASES 104326058 \| SMAD1-AS1 \| 2.191 \| DISEASES 64093 \| SMOC1 \| 1.971 \| DISEASES 6622 \| SNCA \| 1.958 \| DISEASES 9298 \| SNORD31 \| 2.464 \| DISEASES 6714 \| SRC \| 1.494 \| DISEASES 6430 \| SRSF5 \| 1.595 \| DISEASES 6789 \| STK4 \| 1.569 \| DISEASES 25777 \| SUN2 \| 1.758 \| DISEASES 6899 \| TBX1 \| 3.582 \| DISEASES 57057 \| TBX20 \| 3.918 \| DISEASES 50945 \| TBX22 \| 2.142 \| DISEASES 7010 \| TEK \| 1.987 \| DISEASES 7021 \| TFAP2B \| 1.131 \| DISEASES 7042 \| TGFB2 \| 1.205 \| DISEASES 51337 \| THEM6 \| 1.356 \| DISEASES 7137 \| TNNI3 \| 3.501 \| DISEASES 7139 \| TNNT2 \| 2.324 \| DISEASES 8940 \| TOP3B \| 3.151 \| DISEASES 7247 \| TSN \| 1.193 \| DISEASES 64061 \| TSPYL2 \| 1.745 \| DISEASES 51807 \| TUBA8 \| 2.65 \| DISEASES 92181 \| UBTD2 \| 3.002 \| DISEASES 10090 \| UST \| 1.245 \| DISEASES 57216 \| VANGL2 \| 2.012 \| DISEASES 79971 \| WLS \| 1.014 \| DISEASES 165904 \| XIRP1 \| 1.517 \| DISEASES 339487 \| ZBTB8OS \| 1.773 \| DISEASES 55906 \| ZC4H2 \| 2.185 \| DISEASES 346171 \| ZFP57 \| 1.696 \| DISEASES 23414 \| ZFPM2 \| 3.93 \| DISEASES 7546 \| ZIC2 \| 1.094 \| DISEASES 7625 \| ZNF74 \| 3.304 \| DISEASES
Locus	Symbol \| Locus(Total Locus:5) CITED2 \| 6q24.1 GATA5 \| 20q13.33 NKX2-5 \| 5q34 NKX2-6 \| 8p21.2 GATA4 \| 8p23.1

Disease ID	256
Disease	ventricular septal defect
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:82) HP:0004935 \| Pulmonary atresia \| 80 HP:0001669 \| Transposition of the great arteries \| 20 HP:0001636 \| Tetrology of fallot \| 15 HP:0002617 \| Aneurysmal dilatation \| 11 HP:0001719 \| Double-outlet right ventricle \| 10 HP:0001680 \| Coarctation of aorta \| 9 HP:0001642 \| Pulmonic stenosis \| 9 HP:0001631 \| Atria septal defect \| 7 HP:0011645 \| Aneurysm of the aortic sinus \| 7 HP:0100584 \| Endocarditis \| 6 HP:0001643 \| Persistent ductus arteriosus \| 6 HP:0012382 \| Left-to-right shunt \| 6 HP:0002623 \| Overriding aorta \| 6 HP:0001635 \| Congestive heart failure \| 5 HP:0002092 \| Pulmonary artery hypertension \| 5 HP:0001660 \| Common arterial trunk \| 5 HP:0001659 \| Aortic insufficiency \| 5 HP:0005180 \| Tricuspid insufficiency \| 4 HP:0012383 \| Bidirectional shunt \| 4 HP:0006689 \| Bacterial endocarditis \| 4 HP:0001653 \| Mitral valve insufficiency \| 4 HP:0000822 \| Hypertension \| 3 HP:0001650 \| Valvular aortic stenosis \| 3 HP:0011611 \| Interrupted aortic arch \| 3 HP:0005317 \| Increased pulmonary vascular resistance \| 2 HP:0001627 \| Congenital heart defects \| 2 HP:0002647 \| Aortic dissection \| 2 HP:0030149 \| Cardiovascular shock \| 2 HP:0011662 \| Tricuspid atresia \| 2 HP:0001651 \| Thoracic situs inversus \| 2 HP:0010883 \| Aortic atresia \| 2 HP:0002084 \| Bifid skull \| 2 HP:0011568 \| Double orifice mitral valve \| 2 HP:0001678 \| Atrioventricular block \| 2 HP:0011540 \| Congenitally corrected transposition of the great arteries \| 2 HP:0001638 \| Cardiomyopathy \| 1 HP:0001658 \| Myocardial infarction \| 1 HP:0001873 \| Low platelet count \| 1 HP:0001047 \| Atopic dermatitis \| 1 HP:0001655 \| Patent foramen ovale \| 1 HP:0011660 \| Anomalous origin of one pulmonary artery from ascending aorta \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0012819 \| Myocarditis \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0001718 \| Mitral stenosis \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0030148 \| Heart murmur \| 1 HP:0001682 \| Subvalvular aortic stenosis \| 1 HP:0000365 \| Hearing impairment \| 1 HP:0012722 \| Heart block \| 1 HP:0001710 \| Conotruncal heart defects \| 1 HP:0004439 \| Crouzon syndrome \| 1 HP:0005134 \| Absence of the pulmonary valve \| 1 HP:0002323 \| Anencephaly \| 1 HP:0000776 \| Diaphragmatic hernia \| 1 HP:0001693 \| Cardiac shunt \| 1 HP:0012022 \| Congenital portosystemic venous shunt \| 1 HP:0011560 \| Mitral valve atresia \| 1 HP:0000508 \| Drooping upper eyelid \| 1 HP:0011716 \| Junctional ectopic tachycardia \| 1 HP:0011604 \| Aortopulmonary window \| 1 HP:0011710 \| Bundle-branch block \| 1 HP:0001649 \| Tachycardia \| 1 HP:0011590 \| Double aortic arch \| 1 HP:0010316 \| Ebstein's anomaly of the tricuspid valve \| 1 HP:0100571 \| Cardiac diverticulum \| 1 HP:0001647 \| Bicuspid aortic valve \| 1 HP:0011713 \| Left bundle branch block \| 1 HP:0001694 \| Right-to-left shunt \| 1 HP:0004961 \| Pulmonary artery sling \| 1 HP:0006695 \| Atrioventricular septal defect, partial \| 1 HP:0012304 \| Hypoplastic aortic arch \| 1 HP:0011612 \| Interrupted aortic arch type A \| 1 HP:0001709 \| Complete heart block \| 1 HP:0001750 \| Single ventricle \| 1 HP:0001999 \| Facial dysmorphism \| 1 HP:0100806 \| Sepsis \| 1 HP:0002597 \| Abnormality of blood vessels \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0010614 \| Fibroma \| 1 HP:0001674 \| Complete atrioventricular septal defect \| 1 HP:0011683 \| Restrictive ventricular septal defect \| 1

Disease ID	256
Disease	ventricular septal defect
Manually Symptom	UMLS \| Name(Total Manually Symptoms:46) C2632116 \| stenosis C2041143 \| right bundle branch block C2004632 \| aberrant right subclavian artery C1963244 \| supraventricular tachycardia C1963220 \| pulmonary hypertension C1962958 \| hematoma C1956257 \| pulmonic stenosis C1550639 \| fistula C1541923 \| infective endocarditis C1521999 \| acute myocardial infarction C1421375 \| congenital erythropoietic porphyria C1388247 \| aortic valve endocarditis C1096458 \| vascular obstruction C0878544 \| cardiomyopathy C0741916 \| cardiac defect C0700053 \| muscular subaortic stenosis C0520767 \| staphylococcal endocarditis C0345050 \| annulo-aortic ectasia C0340375 \| subaortic stenosis C0264351 \| bronchial compression C0232258 \| pansystolic murmur C0221060 \| mobius syndrome C0220704 \| velo-cardio-facial syndrome C0175703 \| tar syndrome C0158619 \| congenital mitral insufficiency C0155675 \| pulmonary arteriovenous fistula C0152419 \| interruption of aortic arch C0152419 \| interrupted aortic arch C0042373 \| vascular disease C0041295 \| tuberculoma C0035619 \| right ventricular outflow obstruction C0034065 \| pulmonary embolism C0031154 \| peritonitis C0026269 \| mitral valve stenosis C0026269 \| mitral stenosis C0026266 \| mitral regurgitation C0018801 \| heart failure C0018801 \| cardiac insufficiency C0014122 \| infectious endocarditis C0014118 \| endocarditis C0012628 \| discrete subaortic stenosis C0005411 \| biliary atresia C0003505 \| aortic valve prolapse C0003504 \| aortic regurgitation C0003504 \| aortic insufficiency C0002940 \| aneurysm
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:18) C0009814 \| stenosis \| 15 C0002940 \| aneurysm \| 8 C0014118 \| endocarditis \| 6 C0003504 \| aortic insufficiency \| 4 C0020542 \| pulmonary hypertension \| 4 C0016169 \| fistula \| 4 C0003505 \| aortic valve prolapse \| 4 C0018801 \| heart failure \| 3 C0152419 \| interrupted aortic arch \| 3 C0026266 \| mitral regurgitation \| 3 C0014121 \| infective endocarditis \| 3 C0026269 \| mitral stenosis \| 1 C0018944 \| hematoma \| 1 C0155626 \| acute myocardial infarction \| 1 C0003504 \| aortic regurgitation \| 1 C0878544 \| cardiomyopathy \| 1 C0340375 \| subaortic stenosis \| 1 C0035619 \| right ventricular outflow obstruction \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894073	22589735	2626	GATA4	umls:C0018818	BeFree	We previously reported that a heterozygous G296S missense mutation of GATA4 caused atrial and ventricular septal defects and pulmonary valve stenosis in humans.	0.006710102	2012	GATA4	8	11750213	G	A,C,T
rs115099192	19302747	2626	GATA4	umls:C0018818	BeFree	Two heterozygous missense mutations of c.1220C > A and c.1273G > A in GATA4 gene, which cause the amino acid residue changes of P407Q and D425N in GATA4, were found in a patient with tetralogy of Fallot and a patient with ventricular septal defect, respectively.	0.006710102	2009	GATA4	8	11758366	C	A,G
rs121918466	17641779	5781	PTPN11	umls:C0018818	BeFree	Q79R SHP2 embryonic hearts showed altered cardiomyocyte cell cycling, ventricular noncompaction, and ventricular septal defects, while, in the postnatal cardiomyocyte, Q79R SHP2 expression was completely benign.	0.000271442	2007	PTPN11	12	112450416	A	G
rs2228638	24594544	4745	NELL1	umls:C0018818	BeFree	We found that rs2228638 in NRP1 on 10p11 was significantly increased the risk of TOF (OR = 1.52, 95% CI = 1.13-2.04, P = 0.006), but not in other subgroups including ASD and VSD.	0.000271442	2014	NRP1	10	33186354	C	T
rs387906776	20659440	1482	NKX2-5	umls:C0018818	BeFree	In addition, we identified a non-synonymous variant in the NKX2-5 gene (P257A) associated with one congenital heart disease patient with VSD.	0.016731045	2010	NKX2-5	5	173232775	G	C,A
rs56208331	19302747	2626	GATA4	umls:C0018818	BeFree	Two heterozygous missense mutations of c.1220C > A and c.1273G > A in GATA4 gene, which cause the amino acid residue changes of P407Q and D425N in GATA4, were found in a patient with tetralogy of Fallot and a patient with ventricular septal defect, respectively.	0.006710102	2009	GATA4	8	11758419	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	256
Disease	ventricular septal defect
Case	(Waiting for update.)

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