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	patent foramen ovale

Disease ID	839
Disease	patent foramen ovale
Definition	A condition in which the FORAMEN OVALE in the ATRIAL SEPTUM fails to close shortly after birth. This results in abnormal communications between the two upper chambers of the heart. An isolated patent ovale foramen without other structural heart defects is usually of no hemodynamic significance.
Synonym	foramen ovale patent foramen ovale, patent foramen ovale, patent [disease/finding] fossa ovalis defect oval foramen, patent patent foraman ovale patent foramen ovale (disorder) patent foramen ovales patent oval foramen pfo - patent foramen ovale secundum atrial septal defect
Orphanet	ORPHANET:99108
DOID	DOID:13620
UMLS	C0016522
MeSH	D054092
SNOMED-CT	SNOMEDCT_US_2016_09_01:204317008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:45) C0149931 \| migraine \| 11 C0034065 \| pulmonary embolism \| 8 C0149931 \| migraine headache \| 5 C0027051 \| myocardial infarct \| 4 C0027051 \| myocardial infarction \| 4 C0040053 \| thrombus \| 3 C0149931 \| migraine headaches \| 2 C0020538 \| hypertension \| 2 C0024117 \| chronic obstructive pulmonary disease \| 2 C1619734 \| pulmonary arterial hypertension \| 2 C0600260 \| obstructive pulmonary disease \| 2 C0020542 \| pulmonary hypertension \| 2 C0155626 \| acute myocardial infarction \| 2 C0035302 \| retinal artery occlusion \| 2 C0520679 \| obstructive sleep apnea \| 1 C0042345 \| varicose vein \| 1 C0040053 \| thrombosis \| 1 C0023798 \| lipoma \| 1 C0007194 \| hypertrophic cardiomyopathy \| 1 C0022116 \| ischaemia \| 1 C0007785 \| cerebral ischemia \| 1 C0026269 \| mitral stenosis \| 1 C0152021 \| congenital heart disease \| 1 C0007785 \| cerebral infarction \| 1 C0018799 \| heart disease \| 1 C1956257 \| pulmonic stenosis \| 1 C0042373 \| vascular disease \| 1 C0002895 \| sickle cell disease \| 1 C0007785 \| cerebral infarct \| 1 C0154723 \| migraine with aura \| 1 C0024115 \| pulmonary disease \| 1 C0032319 \| pneumopericardium \| 1 C0006123 \| branch retinal artery occlusion \| 1 C0028754 \| obesity \| 1 C0235974 \| pancreatic cancer \| 1 C0040961 \| tricuspid regurgitation \| 1 C0034063 \| pulmonary edema \| 1 C0022116 \| ischemia \| 1 C0007787 \| transient ischemic attack \| 1 C0007787 \| transient ischaemic attack \| 1 C0021400 \| influenza \| 1 C0018818 \| ventricular septal defect \| 1 C0042345 \| varicose veins \| 1 C0154723 \| migraine aura \| 1 C0087086 \| thrombi \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 2162 \| F13A1 \| CIPHER 2147 \| F2 \| CIPHER 2153 \| F5 \| CIPHER 2243 \| FGA \| CIPHER 4524 \| MTHFR \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:43) 94 \| ACVRL1 \| 2.457 \| DISEASES 85316 \| BAGE5 \| 2.106 \| DISEASES 282991 \| BLOC1S2 \| 1.107 \| DISEASES 1121 \| CHM \| 2.561 \| DISEASES 9635 \| CLCA2 \| 2.067 \| DISEASES 22802 \| CLCA4 \| 2.165 \| DISEASES 79947 \| DHDDS \| 1.207 \| DISEASES 1906 \| EDN1 \| 1.173 \| DISEASES 255520 \| ELMOD2 \| 3.837 \| DISEASES 1969 \| EPHA2 \| 2.471 \| DISEASES 2152 \| F3 \| 1.52 \| DISEASES 26269 \| FBXO8 \| 2.759 \| DISEASES 6468 \| FBXW4 \| 3.093 \| DISEASES 11153 \| FICD \| 1.549 \| DISEASES 2626 \| GATA4 \| 2.898 \| DISEASES 56287 \| GKN1 \| 2.523 \| DISEASES 2875 \| GPT \| 1.99 \| DISEASES 23462 \| HEY1 \| 1.564 \| DISEASES 3142 \| HLX \| 2.486 \| DISEASES 3355 \| HTR1F \| 1.639 \| DISEASES 3363 \| HTR7 \| 1.725 \| DISEASES 3376 \| IARS \| 1.013 \| DISEASES 259307 \| IL4I1 \| 2.766 \| DISEASES 102723508 \| KANTR \| 1.99 \| DISEASES 4121 \| MAN1A1 \| 1.2 \| DISEASES 57506 \| MAVS \| 1.659 \| DISEASES 4524 \| MTHFR \| 3.362 \| DISEASES 4624 \| MYH6 \| 1.315 \| DISEASES 1482 \| NKX2-5 \| 3.819 \| DISEASES 4855 \| NOTCH4 \| 2.489 \| DISEASES 344022 \| NOTO \| 2.187 \| DISEASES 54510 \| PCDH18 \| 3.361 \| DISEASES 5158 \| PDE6B \| 1.328 \| DISEASES 56034 \| PDGFC \| 1.753 \| DISEASES 5493 \| PPL \| 1.489 \| DISEASES 145270 \| PRIMA1 \| 3.354 \| DISEASES 5757 \| PTMA \| 1.983 \| DISEASES 286205 \| SCAI \| 2.004 \| DISEASES 462 \| SERPINC1 \| 2.713 \| DISEASES 348235 \| SKA2 \| 3.012 \| DISEASES 57057 \| TBX20 \| 2.41 \| DISEASES 7137 \| TNNI3 \| 1.845 \| DISEASES 11277 \| TREX1 \| 1.595 \| DISEASES
Locus	(Waiting for update.)

Disease ID	839
Disease	patent foramen ovale
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:51) HP:0001297 \| Cerebral vascular events \| 66 HP:0001694 \| Right-to-left shunt \| 20 HP:0011995 \| Atrial septal aneurysm \| 19 HP:0002076 \| Migraine headaches \| 12 HP:0002617 \| Aneurysmal dilatation \| 9 HP:0012382 \| Left-to-right shunt \| 7 HP:0002140 \| Ischemic stroke \| 7 HP:0002204 \| Pulmonary embolism \| 6 HP:0001658 \| Myocardial infarction \| 4 HP:0012383 \| Bidirectional shunt \| 4 HP:0012418 \| Low blood oxygen level \| 3 HP:0004947 \| Arteriovenous fistula \| 2 HP:0000822 \| Hypertension \| 2 HP:0001693 \| Cardiac shunt \| 2 HP:0002315 \| Headaches \| 2 HP:0001907 \| Thromboembolic disease \| 2 HP:0002326 \| TIA \| 2 HP:0002092 \| Pulmonary artery hypertension \| 2 HP:0006510 \| Chronic obstructive pulmonary disease \| 2 HP:0005110 \| Atrial fibrillation \| 2 HP:0010316 \| Ebstein's anomaly of the tricuspid valve \| 1 HP:0001629 \| Ventricular septal defects \| 1 HP:0001649 \| Tachycardia \| 1 HP:0006532 \| Pneumonia, recurrent episodes \| 1 HP:0002619 \| Varicose veins \| 1 HP:0002894 \| Neoplasia of the pancreas \| 1 HP:0001289 \| Confusion \| 1 HP:0005162 \| Left ventricular impairment \| 1 HP:0100576 \| Amaurosis fugax \| 1 HP:0001708 \| Impaired right ventricular function \| 1 HP:0001513 \| Obesity \| 1 HP:0001642 \| Pulmonic stenosis \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0000969 \| Dropsy \| 1 HP:0100570 \| Carcinoid tumor \| 1 HP:0001639 \| Hypertrophic cardiomyopathy \| 1 HP:0002077 \| Migraine with aura \| 1 HP:0002791 \| Under breathing \| 1 HP:0012032 \| Lipoma \| 1 HP:0100598 \| Pulmonary oedema \| 1 HP:0001718 \| Mitral stenosis \| 1 HP:0010773 \| Partial anomalous pulmonary venous return \| 1 HP:0005180 \| Tricuspid insufficiency \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0004756 \| Ventricular tachycardia \| 1 HP:0002637 \| Brain ischemia \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0010772 \| Anomalous pulmonary venous return \| 1 HP:0030049 \| Brain abscess \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0011566 \| Cor triatriatum dexter \| 1

Disease ID	839
Disease	patent foramen ovale
Manually Symptom	UMLS \| Name(Total Manually Symptoms:26) C2062615 \| medial medullary syndrome C1963220 \| pulmonary hypertension C1956257 \| pulmonary stenosis C1704212 \| embolism C0948008 \| ischemic stroke C0948008 \| ischaemic stroke C0917798 \| cerebral ischemia C0917798 \| cerebral ischaemia C0741275 \| atrial dysfunction C0549124 \| arterial embolism C0524702 \| pulmonary thromboembolism C0521533 \| atrial septal aneurysm C0340708 \| deep vein thrombosis C0302148 \| thrombus C0264686 \| coronary embolism C0262935 \| brain embolism C0238096 \| paradoxical embolism C0238096 \| paradoxical emboli C0149931 \| migraine C0040053 \| thrombosis C0038454 \| strokes C0038454 \| stroke C0034065 \| pulmonary embolism C0021308 \| infarction C0018799 \| heart disease C0006105 \| brain abscess
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:20) C0038454 \| stroke \| 65 C0521533 \| atrial septal aneurysm \| 19 C0013922 \| embolism \| 17 C0149931 \| migraine \| 11 C0948008 \| ischemic stroke \| 7 C0034065 \| pulmonary embolism \| 6 C0021308 \| infarction \| 6 C0238096 \| paradoxical emboli \| 5 C0038454 \| strokes \| 4 C0948008 \| ischaemic stroke \| 3 C0040053 \| thrombus \| 3 C0549124 \| arterial embolism \| 2 C0238096 \| paradoxical embolism \| 2 C1619734 \| pulmonary arterial hypertension \| 2 C0524702 \| pulmonary thromboembolism \| 1 C0020542 \| pulmonary hypertension \| 1 C0007785 \| cerebral ischemia \| 1 C0006105 \| brain abscess \| 1 C0741275 \| atrial dysfunction \| 1 C0040053 \| thrombosis \| 1

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

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs3729856	21673957	55349	CHDH	umls:C0016522	BeFree	Thus, the common GATA4 variant S377G is likely to be relatively benign in terms of its participation in CHD and PFO/Stroke.	0.000271442	2011	GATA4	8	11757066	A	G
rs3729856	21673957	2626	GATA4	umls:C0016522	BeFree	Thus, the common GATA4 variant S377G is likely to be relatively benign in terms of its participation in CHD and PFO/Stroke.	0.000271442	2011	GATA4	8	11757066	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	839
Disease	patent foramen ovale
Case	(Waiting for update.)

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