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	aortic valve insufficiency

Disease ID	1079
Disease	aortic valve insufficiency
Definition	Pathological condition characterized by the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to regurgitation. It is caused by diseases of the AORTIC VALVE or its surrounding tissue (aortic root).
Synonym	ai - aortic incompetence aortic incompetence aortic insufficiency aortic regurgitation aortic regurgitation, nos aortic valve incompetence aortic valve incompetence, nos aortic valve insufficiency [disease/finding] aortic valve insufficiency, nos aortic valve regurgitation aortic valve regurgitation (disorder) aortic valve regurgitation, nos aortic valve, incompetence aortic valve, insufficiency aortic valve, regurgitation ar ar - aortic regurgitation incompetence, aortic incompetence, aortic valve insufficiency, aortic valve regurgitation, aortic regurgitation, aortic valve
OMIM	OMIM:313700
DOID	DOID:57
UMLS	C0003504
MeSH	D001022
SNOMED-CT	SNOMEDCT_US_2016_09_01:60234000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:48) C0003486 \| aortic aneurysm \| 13 C0003507 \| aortic stenosis \| 9 C0018801 \| heart failure \| 9 C0014118 \| endocarditis \| 6 C0020538 \| hypertension \| 6 C0018818 \| ventricular septal defect \| 4 C0020538 \| systemic hypertension \| 4 C0004943 \| behcet's disease \| 4 C0018799 \| heart disease \| 3 C0003509 \| aortitis \| 3 C0035439 \| rheumatic heart disease \| 3 C0039263 \| takayasu's arteritis \| 2 C0020443 \| hypercholesterolemia \| 2 C0409974 \| lupus erythematosus \| 2 C0014121 \| infective endocarditis \| 2 C0026266 \| mitral regurgitation \| 2 C0040961 \| tricuspid regurgitation \| 2 C0024141 \| systemic lupus erythematosus \| 2 C0034063 \| pulmonary edema \| 1 C0003511 \| syphilitic aortitis \| 1 C0020542 \| pulmonary hypertension \| 1 C0003486 \| aortic aneurysms \| 1 C0004153 \| atherosclerosis \| 1 C0020445 \| familial hypercholesterolemia \| 1 C0153500 \| heart ca \| 1 C0085435 \| reactive arthritis \| 1 C0002871 \| anemia \| 1 C0002878 \| hemolytic anemia \| 1 C0027051 \| myocardial infarct \| 1 C0152101 \| hypoplastic left heart syndrome \| 1 C0020443 \| hypercholesterolaemia \| 1 C0022116 \| ischemia \| 1 C0162872 \| thoracic aortic aneurysm \| 1 C0031036 \| polyarteritis nodosa \| 1 C0018802 \| congestive cardiac failure \| 1 C0018801 \| cardiac failure \| 1 C0027051 \| myocardial infarction \| 1 C0010051 \| coronary aneurysms \| 1 C0040053 \| thrombus \| 1 C0018802 \| congestive heart failure \| 1 C0010051 \| coronary aneurysm \| 1 C0012628 \| discrete subaortic stenosis \| 1 C0029434 \| osteogenesis imperfecta \| 1 C0003505 \| aortic valve prolapse \| 1 C0039263 \| takayasu disease \| 1 C0039263 \| takayasu arteritis \| 1 C0152101 \| hypoplastic left heart \| 1 C0155733 \| aortic atherosclerosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:12) 4878 \| NPPA \| CTD_human 7040 \| TGFB1 \| CTD_human 1277 \| COL1A1 \| CTD_human 2335 \| FN1 \| CTD_human 11167 \| FSTL1 \| CTD_human 4879 \| NPPB \| CTD_human 1490 \| CTGF \| CTD_human 7076 \| TIMP1 \| CTD_human 7042 \| TGFB2 \| CTD_human 1281 \| COL3A1 \| CTD_human 4015 \| LOX \| CTD_human 231 \| AKR1B1 \| OMIM
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:79) 55256 \| ADI1 \| 2.586 \| DISEASES 84890 \| ADO \| 2 \| DISEASES 183 \| AGT \| 1.019 \| DISEASES 186 \| AGTR2 \| 1.442 \| DISEASES 64400 \| AKTIP \| 1.09 \| DISEASES 10189 \| ALYREF \| 2.771 \| DISEASES 25820 \| ARIH1 \| 3.138 \| DISEASES 415 \| ARSE \| 1.242 \| DISEASES 10159 \| ATP6AP2 \| 1.127 \| DISEASES 554 \| AVPR2 \| 1.344 \| DISEASES 7917 \| BAG6 \| 1.331 \| DISEASES 650 \| BMP2 \| 1.117 \| DISEASES 78996 \| C7orf49 \| 2.331 \| DISEASES 1025 \| CDK9 \| 1.58 \| DISEASES 9350 \| CER1 \| 1.714 \| DISEASES 27297 \| CRCP \| 2.081 \| DISEASES 78987 \| CRELD1 \| 1.031 \| DISEASES 9547 \| CXCL14 \| 2.072 \| DISEASES 91319 \| DERL3 \| 2.61 \| DISEASES 6993 \| DYNLT1 \| 1.4 \| DISEASES 10969 \| EBNA1BP2 \| 2.96 \| DISEASES 10919 \| EHMT2 \| 1.251 \| DISEASES 2155 \| F7 \| 1.433 \| DISEASES 2192 \| FBLN1 \| 1.587 \| DISEASES 10516 \| FBLN5 \| 1.412 \| DISEASES 2200 \| FBN1 \| 3.347 \| DISEASES 2316 \| FLNA \| 1.168 \| DISEASES 4303 \| FOXO4 \| 1.944 \| DISEASES 2524 \| FUT2 \| 3.364 \| DISEASES 54826 \| GIN1 \| 2.241 \| DISEASES 3055 \| HCK \| 2.591 \| DISEASES 3106 \| HLA-B \| 1.912 \| DISEASES 3112 \| HLA-DOB \| 1.629 \| DISEASES 3240 \| HP \| 1.269 \| DISEASES 133396 \| IL31RA \| 1.007 \| DISEASES 259307 \| IL4I1 \| 4.092 \| DISEASES 57611 \| ISLR2 \| 2.456 \| DISEASES 3725 \| JUN \| 1.285 \| DISEASES 102723508 \| KANTR \| 1.297 \| DISEASES 154881 \| KCTD7 \| 2.053 \| DISEASES 9851 \| KIAA0753 \| 1.742 \| DISEASES 1316 \| KLF6 \| 1.153 \| DISEASES 26524 \| LATS2 \| 1.222 \| DISEASES 54900 \| LAX1 \| 1.857 \| DISEASES 440900 \| LINC01191 \| 3.234 \| DISEASES 10747 \| MASP2 \| 1.494 \| DISEASES 83881 \| MIXL1 \| 1.413 \| DISEASES 344022 \| NOTO \| 1.904 \| DISEASES 4878 \| NPPA \| 2.399 \| DISEASES 4879 \| NPPB \| 3.152 \| DISEASES 4882 \| NPR2 \| 1.869 \| DISEASES 7182 \| NR2C2 \| 2.299 \| DISEASES 390874 \| ONECUT3 \| 1.995 \| DISEASES 10015 \| PDCD6IP \| 2.477 \| DISEASES 54704 \| PDP1 \| 2.024 \| DISEASES 8544 \| PIR \| 1.288 \| DISEASES 5309 \| PITX3 \| 1.254 \| DISEASES 5329 \| PLAUR \| 2.121 \| DISEASES 57449 \| PLEKHG5 \| 3.032 \| DISEASES 5538 \| PPT1 \| 1.08 \| DISEASES 145270 \| PRIMA1 \| 2.392 \| DISEASES 5799 \| PTPRN2 \| 3.069 \| DISEASES 5900 \| RALGDS \| 3.506 \| DISEASES 9939 \| RBM8A \| 1.821 \| DISEASES 80196 \| RNF34 \| 1.998 \| DISEASES 6227 \| RPS21 \| 2.345 \| DISEASES 55511 \| SAGE1 \| 1.975 \| DISEASES 404552 \| SCGB1D4 \| 1.253 \| DISEASES 140885 \| SIRPA \| 2.087 \| DISEASES 388588 \| SMIM1 \| 1.827 \| DISEASES 23583 \| SMUG1 \| 1.307 \| DISEASES 6714 \| SRC \| 2.245 \| DISEASES 117178 \| SSX2IP \| 4.06 \| DISEASES 6942 \| TCF20 \| 1.757 \| DISEASES 7137 \| TNNI3 \| 1.473 \| DISEASES 7706 \| TRIM25 \| 2.548 \| DISEASES 51366 \| UBR5 \| 2.172 \| DISEASES 7409 \| VAV1 \| 1.026 \| DISEASES 9278 \| ZBTB22 \| 1.28 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1079
Disease	aortic valve insufficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:50) HP:0002617 \| Aneurysmal dilatation \| 29 HP:0004942 \| Aortic aneurysm \| 13 HP:0001635 \| Congestive heart failure \| 10 HP:0001650 \| Valvular aortic stenosis \| 10 HP:0001647 \| Bicuspid aortic valve \| 9 HP:0002616 \| Aortic root dilatation \| 8 HP:0002631 \| Ascending aortic aneurysm \| 8 HP:0011645 \| Aneurysm of the aortic sinus \| 7 HP:0000822 \| Hypertension \| 7 HP:0100584 \| Endocarditis \| 5 HP:0001714 \| Ventricular hypertrophy \| 4 HP:0001712 \| Left ventricular hypertrophy \| 4 HP:0001629 \| Ventricular septal defects \| 4 HP:0002647 \| Aortic dissection \| 4 HP:0012089 \| Arteritis \| 3 HP:0003124 \| Elevated serum cholesterol \| 2 HP:0001724 \| Aortic dilatation \| 2 HP:0002725 \| Systemic lupus erythematosus \| 2 HP:0000969 \| Dropsy \| 2 HP:0006689 \| Bacterial endocarditis \| 2 HP:0005111 \| Dilation of the ascending aorta \| 2 HP:0005180 \| Tricuspid insufficiency \| 2 HP:0001260 \| Dysarthric speech \| 2 HP:0001653 \| Mitral valve insufficiency \| 2 HP:0002621 \| Atherosclerosis \| 1 HP:0004380 \| Aortic valve calcification \| 1 HP:0012727 \| Thoracic aortic aneurysm \| 1 HP:0012382 \| Left-to-right shunt \| 1 HP:0002094 \| Dyspnea \| 1 HP:0001662 \| Bradycardia \| 1 HP:0030149 \| Cardiovascular shock \| 1 HP:0001634 \| Mitral valve prolapse \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0006698 \| Ventricular aneurysm \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0100598 \| Pulmonary oedema \| 1 HP:0005110 \| Atrial fibrillation \| 1 HP:0012561 \| Unicuspid aortic valve \| 1 HP:0001682 \| Subvalvular aortic stenosis \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0001669 \| Transposition of the great arteries \| 1 HP:0012764 \| Orthopnea \| 1 HP:0004383 \| Underdeveloped left heart \| 1 HP:0100749 \| Thoracic pain \| 1 HP:0001903 \| Anemia \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0004947 \| Arteriovenous fistula \| 1 HP:0012397 \| Atherosclerotic changes of aorta \| 1 HP:0012418 \| Low blood oxygen level \| 1 HP:0001658 \| Myocardial infarction \| 1

Disease ID	1079
Disease	aortic valve insufficiency
Manually Symptom	UMLS \| Name(Total Manually Symptoms:7) C0920035 \| left ventricular overload C0027051 \| myocardial infarct C0018818 \| ventricular septal defects C0003510 \| aortitis syndrome C0003509 \| aortitis C0003486 \| aortic aneurysms C0002940 \| aneurysm
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:14) C0002940 \| aneurysm \| 19 C0018801 \| heart failure \| 8 C0003486 \| aortic aneurysm \| 5 C0018818 \| ventricular septal defect \| 4 C0232262 \| diastolic murmur \| 3 C0340643 \| aortic dissection \| 3 C0856747 \| ascending aortic aneurysm \| 3 C0020538 \| hypertension \| 1 C0519097 \| left ventricular aneurysm \| 1 C0018802 \| congestive heart failure \| 1 C0018801 \| cardiac failure \| 1 C0003486 \| aortic aneurysms \| 1 C0013404 \| dyspnea \| 1 C0020542 \| pulmonary hypertension \| 1

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:0)
(Waiting for update.)

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

Disease ID	1079
Disease	aortic valve insufficiency
Case	(Waiting for update.)

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