PedAM

Pediatric Disease Annotations & Medicines


	patent foramen ovale

Disease ID	459
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:39) 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 C0155626 \| acute myocardial infarction \| 2 C0035302 \| retinal artery occlusion \| 2 C0600260 \| obstructive pulmonary disease \| 2 C0024117 \| chronic obstructive pulmonary disease \| 2 C0032319 \| pneumopericardium \| 1 C0040053 \| thrombosis \| 1 C0028754 \| obesity \| 1 C0006123 \| branch retinal artery occlusion \| 1 C0520679 \| obstructive sleep apnea \| 1 C0007787 \| transient ischemic attack \| 1 C1956257 \| pulmonic stenosis \| 1 C0042345 \| varicose veins \| 1 C0040961 \| tricuspid regurgitation \| 1 C0024115 \| pulmonary disease \| 1 C0235974 \| pancreatic cancer \| 1 C0007785 \| cerebral infarction \| 1 C0154723 \| migraine aura \| 1 C0042345 \| varicose vein \| 1 C0022116 \| ischemia \| 1 C0007785 \| cerebral ischemia \| 1 C0002895 \| sickle cell disease \| 1 C0022116 \| ischaemia \| 1 C0154723 \| migraine with aura \| 1 C0042373 \| vascular disease \| 1 C0018818 \| ventricular septal defect \| 1 C0020542 \| pulmonary hypertension \| 1 C0021400 \| influenza \| 1 C0023798 \| lipoma \| 1 C0087086 \| thrombi \| 1 C0007785 \| cerebral infarct \| 1 C0007787 \| transient ischaemic attack \| 1 C0020538 \| hypertension \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 2162 \| F13A1 \| infer 2147 \| F2 \| infer 2153 \| F5 \| infer 2243 \| FGA \| infer 4524 \| MTHFR \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:93) 6583 \| SLC22A4 \| DISEASES 4627 \| MYH9 \| DISEASES 5327 \| PLAT \| DISEASES 5054 \| SERPINE1 \| DISEASES 29760 \| BLNK \| DISEASES 116449 \| CLNK \| DISEASES 7035 \| TFPI \| DISEASES 1179 \| CLCA1 \| DISEASES 55640 \| FLVCR2 \| DISEASES 6909 \| TBX2 \| DISEASES 7408 \| VASP \| DISEASES 2657 \| GDF1 \| DISEASES 2161 \| F12 \| DISEASES 47 \| ACLY \| DISEASES 4836 \| NMT1 \| DISEASES 23314 \| SATB2 \| DISEASES 4659 \| PPP1R12A \| DISEASES 7450 \| VWF \| DISEASES 23495 \| TNFRSF13B \| DISEASES 4591 \| TRIM37 \| DISEASES 6521 \| SLC4A1 \| DISEASES 1 \| A1BG \| DISEASES 9424 \| KCNK6 \| DISEASES 4854 \| NOTCH3 \| DISEASES 6403 \| SELP \| DISEASES 2891 \| GRIA2 \| DISEASES 2743 \| GLRB \| DISEASES 64083 \| GOLPH3 \| DISEASES 6717 \| SRI \| DISEASES 775 \| CACNA1C \| DISEASES 4123 \| MAN2C1 \| DISEASES 3073 \| HEXA \| DISEASES 80854 \| SETD7 \| DISEASES 4851 \| NOTCH1 \| DISEASES 1360 \| CPB1 \| DISEASES 70 \| ACTC1 \| DISEASES 213 \| ALB \| DISEASES 5648 \| MASP1 \| DISEASES 64399 \| HHIP \| DISEASES 27343 \| POLL \| DISEASES 1632 \| ECI1 \| DISEASES 2147 \| F2 \| DISEASES 81029 \| WNT5B \| DISEASES 5340 \| PLG \| DISEASES 763 \| CA5A \| DISEASES 6910 \| TBX5 \| DISEASES 8425 \| LTBP4 \| DISEASES 55690 \| PACS1 \| DISEASES 5551 \| PRF1 \| DISEASES 137814 \| NKX2-6 \| DISEASES 3355 \| HTR1F \| DISEASES 255520 \| ELMOD2 \| DISEASES 1482 \| NKX2-5 \| DISEASES 348235 \| SKA2 \| DISEASES 2152 \| F3 \| DISEASES 2626 \| GATA4 \| DISEASES 3363 \| HTR7 \| DISEASES 23462 \| HEY1 \| DISEASES 5493 \| PPL \| DISEASES 7137 \| TNNI3 \| DISEASES 259307 \| IL4I1 \| DISEASES 5757 \| PTMA \| DISEASES 4624 \| MYH6 \| DISEASES 1121 \| CHM \| DISEASES 1969 \| EPHA2 \| DISEASES 79947 \| DHDDS \| DISEASES 54510 \| PCDH18 \| DISEASES 3142 \| HLX \| DISEASES 462 \| SERPINC1 \| DISEASES 4121 \| MAN1A1 \| DISEASES 282991 \| BLOC1S2 \| DISEASES 22802 \| CLCA4 \| DISEASES 9635 \| CLCA2 \| DISEASES 286205 \| SCAI \| DISEASES 4855 \| NOTCH4 \| DISEASES 3376 \| IARS \| DISEASES 4524 \| MTHFR \| DISEASES 56287 \| GKN1 \| DISEASES 1906 \| EDN1 \| DISEASES 94 \| ACVRL1 \| DISEASES 6468 \| FBXW4 \| DISEASES 145270 \| PRIMA1 \| DISEASES 26269 \| FBXO8 \| DISEASES 2875 \| GPT \| DISEASES 344022 \| NOTO \| DISEASES 57057 \| TBX20 \| DISEASES 11277 \| TREX1 \| DISEASES 57506 \| MAVS \| DISEASES 5158 \| PDE6B \| DISEASES 56034 \| PDGFC \| DISEASES 11153 \| FICD \| DISEASES 85316 \| BAGE5 \| DISEASES 102723508 \| KANTR \| DISEASES
Locus	(Waiting for update.)

Disease ID	459
Disease	patent foramen ovale
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:40) HP:0001297 \| Cerebral vascular events \| 67 HP:0001694 \| Right-to-left shunt \| 20 HP:0011995 \| Atrial septal aneurysm \| 19 HP:0002076 \| Migraine headaches \| 12 HP:0002617 \| Aneurysmal dilatation \| 10 HP:0002140 \| Ischemic stroke \| 7 HP:0002204 \| Pulmonary embolism \| 6 HP:0012382 \| Left-to-right shunt \| 6 HP:0001658 \| Myocardial infarction \| 4 HP:0012418 \| Low blood oxygen level \| 3 HP:0012383 \| Bidirectional shunt \| 3 HP:0001907 \| Thromboembolic disease \| 2 HP:0002315 \| Headaches \| 2 HP:0006510 \| Chronic obstructive pulmonary disease \| 2 HP:0002326 \| TIA \| 2 HP:0012032 \| Lipoma \| 1 HP:0005110 \| Atrial fibrillation \| 1 HP:0001513 \| Obesity \| 1 HP:0002791 \| Under breathing \| 1 HP:0001642 \| Pulmonic stenosis \| 1 HP:0100570 \| Carcinoid tumor \| 1 HP:0005180 \| Tricuspid insufficiency \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0004947 \| Arteriovenous fistula \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0002637 \| Brain ischemia \| 1 HP:0001643 \| Persistent ductus arteriosus \| 1 HP:0010316 \| Ebstein's anomaly of the tricuspid valve \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0002077 \| Migraine with aura \| 1 HP:0002894 \| Neoplasia of the pancreas \| 1 HP:0000822 \| Hypertension \| 1 HP:0100576 \| Amaurosis fugax \| 1 HP:0001629 \| Ventricular septal defects \| 1 HP:0002619 \| Varicose veins \| 1 HP:0001289 \| Confusion \| 1 HP:0001708 \| Impaired right ventricular function \| 1 HP:0030049 \| Brain abscess \| 1 HP:0001693 \| Cardiac shunt \| 1 HP:0001631 \| Atria septal defect \| 1

Disease ID	459
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:19) C0038454 \| stroke \| 65 C0521533 \| atrial septal aneurysm \| 19 C0013922 \| embolism \| 18 C0149931 \| migraine \| 11 C0948008 \| ischemic stroke \| 7 C0021308 \| infarction \| 6 C0034065 \| pulmonary embolism \| 6 C0038454 \| strokes \| 5 C0238096 \| paradoxical emboli \| 5 C0948008 \| ischaemic stroke \| 3 C0040053 \| thrombus \| 3 C0238096 \| paradoxical embolism \| 2 C0549124 \| arterial embolism \| 2 C0007785 \| cerebral ischemia \| 1 C0020542 \| pulmonary hypertension \| 1 C0040053 \| thrombosis \| 1 C0524702 \| pulmonary thromboembolism \| 1 C0006105 \| brain abscess \| 1 C0741275 \| atrial dysfunction \| 1

Manually Genotype(Total Text Mining 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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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