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	double outlet right ventricle

Disease ID	470
Disease	double outlet right ventricle
Definition	Incomplete transposition of the great vessels in which both the AORTA and the PULMONARY ARTERY arise from the RIGHT VENTRICLE. The only outlet of the LEFT VENTRICLE is a large ventricular septal defect (VENTRICULAR SEPTAL DEFECTS or VSD). The various subtypes are classified by the location of the septal defect, such as subaortic, subpulmonary, or noncommitted.
Synonym	dextratransposition of aorta dorv dorv - double outlet right ventricle double outlet right ventricle (disorder) double outlet right ventricle (dorv) double outlet right ventricle [disease/finding] double outlet right ventricle nos double outlet right ventricle nos (disorder) double outlet right ventricle, unspecified double outlet right ventricle, unspecified (disorder) double outlet rt ventric double-outlet right ventricle origin of both great vessels from right ventricle transposition of great vessels, interventricular septal defect and overriding aorta
Orphanet	ORPHANET:3426
DOID	DOID:6406
ICD10	ICD10CM:Q20.1
UMLS	C0013069
MeSH	D004310
SNOMED-CT	SNOMEDCT_US_2016_09_01:7484005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0018818 \| ventricular septal defect \| 19 C1956257 \| pulmonary stenosis \| 2 C0018816 \| septal defects \| 2 C0003857 \| arteriovenous malformation \| 1 C0018818 \| ventricular septal defects \| 1 C1956257 \| pulmonic stenosis \| 1 C0152096 \| trisomy 18 \| 1 C0014121 \| infective endocarditis \| 1 C0003507 \| aortic stenosis \| 1 C0265264 \| holt-oram syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) 653275 \| CFC1B \| UNIPROT 1482 \| NKX2-5 \| CLINVAR 6899 \| TBX1 \| UNIPROT 55997 \| CFC1 \| CTD_human;UNIPROT 2657 \| GDF1 \| CTD_human 23414 \| ZFPM2 \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:54) 262 \| AMD1 \| 1.063 \| DISEASES 196528 \| ARID2 \| 2.21 \| DISEASES 405 \| ARNT \| 1.264 \| DISEASES 659 \| BMPR2 \| 1.131 \| DISEASES 390259 \| BSX \| 2.662 \| DISEASES 10370 \| CITED2 \| 3.697 \| DISEASES 1282 \| COL4A1 \| 1.363 \| DISEASES 1284 \| COL4A2 \| 1.787 \| DISEASES 78987 \| CRELD1 \| 6.009 \| DISEASES 79947 \| DHDDS \| 1.161 \| DISEASES 23405 \| DICER1 \| 1.717 \| DISEASES 1855 \| DVL1 \| 2.515 \| DISEASES 2153 \| F5 \| 1.202 \| DISEASES 2157 \| F8 \| 1.263 \| DISEASES 2192 \| FBLN1 \| 1.823 \| DISEASES 2253 \| FGF8 \| 2.728 \| DISEASES 2254 \| FGF9 \| 1.67 \| DISEASES 2626 \| GATA4 \| 3.858 \| DISEASES 10052 \| GJC1 \| 1.854 \| DISEASES 2719 \| GPC3 \| 1.661 \| DISEASES 29933 \| GPR132 \| 1.385 \| DISEASES 9464 \| HAND2 \| 2.674 \| DISEASES 23210 \| JMJD6 \| 1.454 \| DISEASES 3987 \| LIMS1 \| 3.821 \| DISEASES 9782 \| MATR3 \| 2.343 \| DISEASES 4205 \| MEF2A \| 3.19 \| DISEASES 4208 \| MEF2C \| 3.285 \| DISEASES 57496 \| MKL2 \| 2.666 \| DISEASES 56180 \| MOSPD1 \| 3.997 \| DISEASES 4487 \| MSX1 \| 2.288 \| DISEASES 4624 \| MYH6 \| 2.136 \| DISEASES 93649 \| MYOCD \| 2.535 \| DISEASES 4734 \| NEDD4 \| 1.612 \| DISEASES 23327 \| NEDD4L \| 1.663 \| DISEASES 1482 \| NKX2-5 \| 4.302 \| DISEASES 261734 \| NPHP4 \| 1.925 \| DISEASES 4879 \| NPPB \| 1.271 \| DISEASES 5053 \| PAH \| 1.125 \| DISEASES 5077 \| PAX3 \| 1.779 \| DISEASES 118425 \| PCAT4 \| 1.924 \| DISEASES 5362 \| PLXNA2 \| 2.233 \| DISEASES 462 \| SERPINC1 \| 1.041 \| DISEASES 347734 \| SLC35B2 \| 3.014 \| DISEASES 6899 \| TBX1 \| 1.953 \| DISEASES 57057 \| TBX20 \| 3.188 \| DISEASES 50945 \| TBX22 \| 1.927 \| DISEASES 84260 \| TCHP \| 1.362 \| DISEASES 7010 \| TEK \| 2.063 \| DISEASES 7020 \| TFAP2A \| 1.412 \| DISEASES 7042 \| TGFB2 \| 1.447 \| DISEASES 7137 \| TNNI3 \| 1.09 \| DISEASES 57216 \| VANGL2 \| 2.799 \| DISEASES 7503 \| XIST \| 1.662 \| DISEASES 23414 \| ZFPM2 \| 4.26 \| DISEASES
Locus	(Waiting for update.)

Disease ID	470
Disease	double outlet right ventricle
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:26) HP:0001629 \| Ventricular septal defects \| 20 HP:0001642 \| Pulmonic stenosis \| 4 HP:0001669 \| Transposition of the great arteries \| 4 HP:0006695 \| Atrioventricular septal defect, partial \| 4 HP:0001674 \| Complete atrioventricular septal defect \| 3 HP:0001671 \| Abnormality of the cardiac septa \| 2 HP:0030853 \| Heterotaxy \| 2 HP:0001636 \| Tetrology of fallot \| 2 HP:0004935 \| Pulmonary atresia \| 2 HP:0011560 \| Mitral valve atresia \| 2 HP:0005134 \| Absence of the pulmonary valve \| 1 HP:0001650 \| Valvular aortic stenosis \| 1 HP:0001683 \| Ectopia cordis \| 1 HP:0001643 \| Persistent ductus arteriosus \| 1 HP:0011536 \| Right atrial isomerism \| 1 HP:0100026 \| Arteriovenous malformation \| 1 HP:0011622 \| Inlet ventricular septal defect \| 1 HP:0006548 \| Pulmonary av malformation \| 1 HP:0001651 \| Thoracic situs inversus \| 1 HP:0001682 \| Subvalvular aortic stenosis \| 1 HP:0011553 \| Discordant atrioventricular connection \| 1 HP:0011571 \| Parachute mitral valve \| 1 HP:0001627 \| Congenital heart defects \| 1 HP:0012721 \| Venous malformations \| 1 HP:0005160 \| Total anomalous pulmonary venous return \| 1 HP:0006689 \| Bacterial endocarditis \| 1

Disease ID	470
Disease	double outlet right ventricle
Manually Symptom	UMLS \| Name(Total Manually Symptoms:7) C1956257 \| pulmonary stenosis C0265903 \| single coronary artery C0152095 \| patau's syndrome C0041341 \| tuberous sclerosis C0026269 \| mitral stenosis C0018818 \| ventricular septal defect C0010520 \| cyanosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0018818 \| ventricular septal defect \| 11 C1956257 \| pulmonary stenosis \| 1 C0265903 \| single coronary artery \| 1

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

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908601	NA	23414	ZFPM2	umls:C0013069	CLINVAR	NA	0.120814326	NA	ZFPM2	8	105419192	A	G

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	470
Disease	double outlet right ventricle
Case	(Waiting for update.)

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