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	atrioventricular septal defect

Disease ID	1254
Disease	atrioventricular septal defect
Definition	A defect of the atrioventricular septum of the heart. [HPO:probinson, pmid:12632326]
Synonym	atrioventricular canal defect avc defect avcd
Orphanet	ORPHANET:98722
OMIM	OMIM:606215
DOID	DOID:0050651
ICD10	ICD10CM:Q21.2
UMLS	C1389016
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:7) C0013069 \| double outlet right ventricle \| 3 C1960469 \| left ventricular noncompaction \| 1 C0026266 \| mitral insufficiency \| 1 C0028326 \| noonan syndrome \| 1 C0265264 \| holt-oram syndrome \| 1 C0026265 \| mitral valve disease \| 1 C1956257 \| pulmonary stenosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 7446 \| AVSD1 \| CTD_human;OMIM
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:68) 51205 \| ACP6 \| 3.377 \| DISEASES 491 \| ATP2B2 \| 2.283 \| DISEASES 26053 \| AUTS2 \| 2.424 \| DISEASES 54880 \| BCOR \| 1.564 \| DISEASES 22995 \| CEP152 \| 3.17 \| DISEASES 9557 \| CHD1L \| 1.78 \| DISEASES 55636 \| CHD7 \| 1.31 \| DISEASES 10370 \| CITED2 \| 1.89 \| DISEASES 8218 \| CLTCL1 \| 2.773 \| DISEASES 152330 \| CNTN4 \| 2.291 \| DISEASES 1291 \| COL6A1 \| 1.728 \| DISEASES 78987 \| CRELD1 \| 6.138 \| DISEASES 79174 \| CRELD2 \| 3.634 \| DISEASES 1399 \| CRKL \| 1.432 \| DISEASES 3491 \| CYR61 \| 1.198 \| DISEASES 613211 \| DEFB134 \| 4.035 \| DISEASES 613209 \| DEFB135 \| 4.231 \| DISEASES 1717 \| DHCR7 \| 2.844 \| DISEASES 8701 \| DNAH11 \| 2.709 \| DISEASES 1826 \| DSCAM \| 2.313 \| DISEASES 1859 \| DYRK1A \| 1.263 \| DISEASES 1906 \| EDN1 \| 1.175 \| DISEASES 10938 \| EHD1 \| 1.492 \| DISEASES 79813 \| EHMT1 \| 2.097 \| DISEASES 10919 \| EHMT2 \| 1.684 \| DISEASES 3266 \| ERAS \| 2.248 \| DISEASES 132884 \| EVC2 \| 3.318 \| DISEASES 54097 \| FAM3B \| 2.443 \| DISEASES 2199 \| FBLN2 \| 3.31 \| DISEASES 2626 \| GATA4 \| 4.687 \| DISEASES 54826 \| GIN1 \| 1.067 \| DISEASES 10052 \| GJC1 \| 3.508 \| DISEASES 9569 \| GTF2IRD1 \| 2.482 \| DISEASES 3055 \| HCK \| 1.191 \| DISEASES 23493 \| HEY2 \| 2.817 \| DISEASES 9742 \| IFT140 \| 2.662 \| DISEASES 7044 \| LEFTY2 \| 3.199 \| DISEASES 3980 \| LIG3 \| 1.193 \| DISEASES 3987 \| LIMS1 \| 3.929 \| DISEASES 4194 \| MDM4 \| 1.468 \| DISEASES 54903 \| MKS1 \| 2.566 \| DISEASES 4548 \| MTR \| 1.295 \| DISEASES 4624 \| MYH6 \| 1.287 \| DISEASES 4772 \| NFATC1 \| 1.902 \| DISEASES 1482 \| NKX2-5 \| 4.649 \| DISEASES 7026 \| NR2F2 \| 1.877 \| DISEASES 64324 \| NSD1 \| 1.531 \| DISEASES 26227 \| PHGDH \| 1.12 \| DISEASES 10654 \| PMVK \| 2.565 \| DISEASES 5781 \| PTPN11 \| 2.363 \| DISEASES 5795 \| PTPRJ \| 1.983 \| DISEASES 22827 \| PUF60 \| 2.596 \| DISEASES 54101 \| RIPK4 \| 2.517 \| DISEASES 6261 \| RYR1 \| 1.172 \| DISEASES 23513 \| SCRIB \| 2.567 \| DISEASES 8036 \| SHOC2 \| 2.089 \| DISEASES 347734 \| SLC35B2 \| 1.604 \| DISEASES 10479 \| SLC9A6 \| 2.272 \| DISEASES 9298 \| SNORD31 \| 3.359 \| DISEASES 6654 \| SOS1 \| 1.189 \| DISEASES 9901 \| SRGAP3 \| 2.525 \| DISEASES 6899 \| TBX1 \| 3.489 \| DISEASES 57057 \| TBX20 \| 2.293 \| DISEASES 84260 \| TCHP \| 1.559 \| DISEASES 7021 \| TFAP2B \| 2.114 \| DISEASES 340061 \| TMEM173 \| 2.314 \| DISEASES 23414 \| ZFPM2 \| 3.076 \| DISEASES 7625 \| ZNF74 \| 3.241 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1254
Disease	atrioventricular septal defect
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:6) HP:0001635 \| Congestive heart failure HP:0000961 \| Cyanosis HP:0011622 \| Inlet ventricular septal defect HP:0002092 \| Pulmonary artery hypertension HP:0010445 \| Septum primum defect HP:0011705 \| First degree atrioventricular block
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:16) HP:0001636 \| Tetrology of fallot \| 7 HP:0001719 \| Double-outlet right ventricle \| 3 HP:0001660 \| Common arterial trunk \| 3 HP:0001710 \| Conotruncal heart defects \| 1 HP:0011612 \| Interrupted aortic arch type A \| 1 HP:0011662 \| Tricuspid atresia \| 1 HP:0004935 \| Pulmonary atresia \| 1 HP:0010316 \| Ebstein's anomaly of the tricuspid valve \| 1 HP:0011683 \| Restrictive ventricular septal defect \| 1 HP:0011604 \| Aortopulmonary window \| 1 HP:0000822 \| Hypertension \| 1 HP:0004415 \| Pulmonary artery stenosis \| 1 HP:0001642 \| Pulmonic stenosis \| 1 HP:0001653 \| Mitral valve insufficiency \| 1 HP:0002084 \| Bifid skull \| 1 HP:0030682 \| Left ventricular noncompaction \| 1

Disease ID	1254
Disease	atrioventricular septal defect
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:0)
(Waiting for update.)

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

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

Mapped by lexical matching(Total Items:5)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0011622	Inlet ventricular septal defect	MP:0008950	ventricular tachycardia	paroxysmal rapid beating of the heart originating in an ectopic focus in the heart ventricle
HP:0011705	First degree atrioventricular block	MP:0010519	atrioventricular block	a partial or complete obstruction of the impulse that originates in the atria or sinoatrial node from reaching or transmitting through the atrioventricular node to the ventricles
HP:0002092	Pulmonary hypertension	MP:0005258	ocular hypertension	abnormal elevation of the intraocular pressure
HP:0010445	Primum atrial septal defect	MP:0010412	atrioventricular septal defect	defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partia
HP:0001635	Congestive heart failure	MP:0011925	abnormal heart echocardiography feature	any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features

Mapped by homologous gene(Total Items:6)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002092	Pulmonary hypertension	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001635	Congestive heart failure	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0011622	Inlet ventricular septal defect	MP:0013781	abnormal mammary gland luminal epithelium morphology	any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti
HP:0011705	First degree atrioventricular block	MP:0013781	abnormal mammary gland luminal epithelium morphology	any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti
HP:0010445	Primum atrial septal defect	MP:0013781	abnormal mammary gland luminal epithelium morphology	any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti
HP:0000961	Cyanosis	MP:0013781	abnormal mammary gland luminal epithelium morphology	any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti

Disease ID	1254
Disease	atrioventricular septal defect
Case	(Waiting for update.)

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