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	patent arterial duct

Disease ID	311
Disease	patent arterial duct
Definition	A congenital heart defect characterized by the persistent opening of fetal DUCTUS ARTERIOSUS that connects the PULMONARY ARTERY to the descending aorta (AORTA, DESCENDING) allowing unoxygenated blood to bypass the lung and flow to the PLACENTA. Normally, the ductus is closed shortly after birth.
Synonym	arteriosis ductus patent arteriosus ductus patent ductus arteriosus persistent ductus arteriosus, patent ductus arteriosus, patent [disease/finding] patency of the ductus arteriosus patent arteriosus ductus patent ductus arteriosis patent ductus arteriosus patent ductus arteriosus (disorder) patent ductus arteriosus - persisting type patent ductus botalli pda pda - patent ductus arteriosus persistent arterial duct persistent ductus arteriosus
Orphanet	ORPHANET:706
OMIM	OMIM:607411
DOID	DOID:13832
ICD10	ICD10CM:Q25.0
UMLS	C0013274
MeSH	D004374
SNOMED-CT	SNOMEDCT_US_2016_09_01:83330001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:29) C0020542 \| pulmonary hypertension \| 11 C0020538 \| hypertension \| 10 C1619734 \| pulmonary arterial hypertension \| 6 C0014118 \| endocarditis \| 4 C0018818 \| ventricular septal defect \| 4 C0040034 \| thrombocytopenia \| 3 C0003486 \| aortic aneurysm \| 3 C0152021 \| congenital heart disease \| 3 C0002871 \| anemia \| 2 C0018799 \| heart disease \| 2 C0175703 \| tar syndrome \| 2 C0014121 \| infective endocarditis \| 2 C0265344 \| donohue syndrome \| 1 C0040188 \| tic disorders \| 1 C0016522 \| secundum atrial septal defect \| 1 C0018801 \| heart failure \| 1 C0008924 \| cleft lip \| 1 C0018818 \| ventricular septal defects \| 1 C0021845 \| intestinal perforation \| 1 C0018802 \| congestive heart failure \| 1 C0002878 \| hemolytic anemia \| 1 C0020501 \| primary hyperoxaluria \| 1 C0026269 \| mitral stenosis \| 1 C1960469 \| left ventricular noncompaction \| 1 C0002888 \| megaloblastic anemia \| 1 C0008925 \| cleft palate \| 1 C0018816 \| septal defects \| 1 C1704437 \| respiratory distress syndrome \| 1 C0264766 \| rheumatic mitral stenosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 4878 \| NPPA \| CTD_human 5740 \| PTGIS \| CTD_human 7021 \| TFAP2B \| CTD_human 185 \| AGTR1 \| CTD_human 7185 \| TRAF1 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:130) 4629 \| MYH11 \| CIPHER 19 \| ABCA1 \| CIPHER 85320 \| ABCC11 \| CIPHER 154 \| ADRB2 \| CIPHER 8644 \| AKR1C3 \| CIPHER 217 \| ALDH2 \| CIPHER 335 \| APOA1 \| CIPHER 337 \| APOA4 \| CIPHER 116519 \| APOA5 \| CIPHER 338 \| APOB \| CIPHER 344 \| APOC2 \| CIPHER 345 \| APOC3 \| CIPHER 348 \| APOE \| CIPHER 329 \| BIRC2 \| CIPHER 330 \| BIRC3 \| CIPHER 1071 \| CETP \| CIPHER 3075 \| CFH \| CIPHER 55636 \| CHD7 \| CIPHER 1137 \| CHRNA4 \| CIPHER 1394 \| CRHR1 \| CIPHER 1583 \| CYP11A1 \| CIPHER 1584 \| CYP11B1 \| CIPHER 1586 \| CYP17A1 \| CIPHER 1543 \| CYP1A1 \| CIPHER 1544 \| CYP1A2 \| CIPHER 1557 \| CYP2C19 \| CIPHER 1559 \| CYP2C9 \| CIPHER 1565 \| CYP2D6 \| CIPHER 1571 \| CYP2E1 \| CIPHER 1644 \| DDC \| CIPHER 1672 \| DEFB1 \| CIPHER 1718 \| DHCR24 \| CIPHER 1717 \| DHCR7 \| CIPHER 1719 \| DHFR \| CIPHER 1906 \| EDN1 \| CIPHER 1907 \| EDN2 \| CIPHER 2033 \| EP300 \| CIPHER 2052 \| EPHX1 \| CIPHER 2099 \| ESR1 \| CIPHER 2162 \| F13A1 \| CIPHER 2147 \| F2 \| CIPHER 2153 \| F5 \| CIPHER 355 \| FAS \| CIPHER 2326 \| FMO1 \| CIPHER 2328 \| FMO3 \| CIPHER 2348 \| FOLR1 \| CIPHER 9568 \| GABBR2 \| CIPHER 2618 \| GART \| CIPHER 2811 \| GP1BA \| CIPHER 51206 \| GP6 \| CIPHER 2952 \| GSTT1 \| CIPHER 3106 \| HLA-B \| CIPHER 3135 \| HLA-G \| CIPHER 3156 \| HMGCR \| CIPHER 3248 \| HPGD \| CIPHER 3290 \| HSD11B1 \| CIPHER 3291 \| HSD11B2 \| CIPHER 3283 \| HSD3B1 \| CIPHER 3458 \| IFNG \| CIPHER 3479 \| IGF1 \| CIPHER 3481 \| IGF2 \| CIPHER 3586 \| IL10 \| CIPHER 3587 \| IL10RA \| CIPHER 3552 \| IL1A \| CIPHER 3553 \| IL1B \| CIPHER 7850 \| IL1R2 \| CIPHER 3557 \| IL1RN \| CIPHER 3565 \| IL4 \| CIPHER 3567 \| IL5 \| CIPHER 3569 \| IL6 \| CIPHER 3673 \| ITGA2 \| CIPHER 3690 \| ITGB3 \| CIPHER 3782 \| KCNN3 \| CIPHER 3931 \| LCAT \| CIPHER 3949 \| LDLR \| CIPHER 3990 \| LIPC \| CIPHER 4023 \| LPL \| CIPHER 4153 \| MBL2 \| CIPHER 4312 \| MMP1 \| CIPHER 4318 \| MMP9 \| CIPHER 4522 \| MTHFD1 \| CIPHER 4524 \| MTHFR \| CIPHER 4548 \| MTR \| CIPHER 4552 \| MTRR \| CIPHER 10 \| NAT2 \| CIPHER 4837 \| NNMT \| CIPHER 4843 \| NOS2 \| CIPHER 1728 \| NQO1 \| CIPHER 2908 \| NR3C1 \| CIPHER 4988 \| OPRM1 \| CIPHER 5020 \| OXT \| CIPHER 5021 \| OXTR \| CIPHER 5241 \| PGR \| CIPHER 5321 \| PLA2G4A \| CIPHER 5728 \| PTEN \| CIPHER 5731 \| PTGER1 \| CIPHER 5732 \| PTGER2 \| CIPHER 5734 \| PTGER4 \| CIPHER 9536 \| PTGES \| CIPHER 80142 \| PTGES2 \| CIPHER 5737 \| PTGFR \| CIPHER 5740 \| PTGIS \| CIPHER;CTD_human 5742 \| PTGS1 \| CIPHER 5743 \| PTGS2 \| CIPHER 5781 \| PTPN11 \| CIPHER 84268 \| RPAIN \| CIPHER 866 \| SERPINA6 \| CIPHER 6439 \| SFTPB \| CIPHER 6441 \| SFTPD \| CIPHER 6470 \| SHMT1 \| CIPHER 6573 \| SLC19A1 \| CIPHER 283652 \| SLC24A5 \| CIPHER 6899 \| TBX1 \| CIPHER 6910 \| TBX5 \| CIPHER 7021 \| TFAP2B \| CIPHER;CTD_human 7040 \| TGFB1 \| CIPHER 7046 \| TGFBR1 \| CIPHER 7048 \| TGFBR2 \| CIPHER 7099 \| TLR4 \| CIPHER 7124 \| TNF \| CIPHER 7128 \| TNFAIP3 \| CIPHER 7132 \| TNFRSF1A \| CIPHER 7133 \| TNFRSF1B \| CIPHER 8717 \| TRADD \| CIPHER 7185 \| TRAF1 \| CIPHER;CTD_human 7186 \| TRAF2 \| CIPHER 7422 \| VEGFA \| CIPHER 9839 \| ZEB2 \| CIPHER 4878 \| NPPA \| CTD_human 185 \| AGTR1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:105) 6833 \| ABCC8 \| 1.615 \| DISEASES 94 \| ACVRL1 \| 2.41 \| DISEASES 84890 \| ADO \| 5.447 \| DISEASES 257 \| ALX3 \| 1.111 \| DISEASES 27301 \| APEX2 \| 2.595 \| DISEASES 170302 \| ARX \| 1.383 \| DISEASES 55252 \| ASXL2 \| 2.172 \| DISEASES 6314 \| ATXN7 \| 1.778 \| DISEASES 554 \| AVPR2 \| 2.777 \| DISEASES 80114 \| BICC1 \| 2.105 \| DISEASES 773 \| CACNA1A \| 1.159 \| DISEASES 8913 \| CACNA1G \| 1.276 \| DISEASES 23066 \| CAND2 \| 1.512 \| DISEASES 1028 \| CDKN1C \| 1.962 \| DISEASES 55835 \| CENPJ \| 1.771 \| DISEASES 55636 \| CHD7 \| 2.28 \| DISEASES 10370 \| CITED2 \| 1.402 \| DISEASES 79827 \| CLMP \| 2.772 \| DISEASES 152330 \| CNTN4 \| 1.803 \| DISEASES 78987 \| CRELD1 \| 5.006 \| DISEASES 1471 \| CST3 \| 1.501 \| DISEASES 1486 \| CTBS \| 1.861 \| DISEASES 57703 \| CWC22 \| 1.233 \| DISEASES 9547 \| CXCL14 \| 2.488 \| DISEASES 51339 \| DACT1 \| 2.958 \| DISEASES 55510 \| DDX43 \| 1.599 \| DISEASES 1718 \| DHCR24 \| 1.172 \| DISEASES 1892 \| ECHS1 \| 1.82 \| DISEASES 1906 \| EDN1 \| 2.038 \| DISEASES 255520 \| ELMOD2 \| 3.322 \| DISEASES 3266 \| ERAS \| 2.157 \| DISEASES 11082 \| ESM1 \| 1.275 \| DISEASES 2070 \| EYA4 \| 1.676 \| DISEASES 2316 \| FLNA \| 2.541 \| DISEASES 342184 \| FMN1 \| 1.243 \| DISEASES 57818 \| G6PC2 \| 1.288 \| DISEASES 2550 \| GABBR1 \| 1.571 \| DISEASES 2626 \| GATA4 \| 2.664 \| DISEASES 3055 \| HCK \| 1.661 \| DISEASES 388585 \| HES5 \| 1.442 \| DISEASES 81502 \| HM13 \| 1.705 \| DISEASES 60495 \| HPSE2 \| 1.122 \| DISEASES 3347 \| HTN3 \| 1.117 \| DISEASES 3476 \| IGBP1 \| 1.431 \| DISEASES 259307 \| IL4I1 \| 1.248 \| DISEASES 102723508 \| KANTR \| 1.474 \| DISEASES 3767 \| KCNJ11 \| 1.655 \| DISEASES 7044 \| LEFTY2 \| 1.755 \| DISEASES 3987 \| LIMS1 \| 3.352 \| DISEASES 9782 \| MATR3 \| 1.963 \| DISEASES 9656 \| MDC1 \| 1.347 \| DISEASES 9968 \| MED12 \| 1.004 \| DISEASES 8972 \| MGAM \| 1.052 \| DISEASES 4512 \| MT-CO1 \| 1.608 \| DISEASES 4629 \| MYH11 \| 3.117 \| DISEASES 4642 \| MYO1D \| 2.509 \| DISEASES 93649 \| MYOCD \| 2.2 \| DISEASES 114803 \| MYSM1 \| 2.725 \| DISEASES 1482 \| NKX2-5 \| 3.082 \| DISEASES 4855 \| NOTCH4 \| 1.039 \| DISEASES 344022 \| NOTO \| 1.671 \| DISEASES 4879 \| NPPB \| 3.261 \| DISEASES 64324 \| NSD1 \| 2.957 \| DISEASES 5048 \| PAFAH1B1 \| 2.001 \| DISEASES 54510 \| PCDH18 \| 2.845 \| DISEASES 5136 \| PDE1A \| 2.335 \| DISEASES 9124 \| PDLIM1 \| 2.002 \| DISEASES 93166 \| PRDM6 \| 4.068 \| DISEASES 256297 \| PTF1A \| 1.73 \| DISEASES 5733 \| PTGER3 \| 1.852 \| DISEASES 5742 \| PTGS1 \| 1.778 \| DISEASES 5743 \| PTGS2 \| 1.808 \| DISEASES 51715 \| RAB23 \| 1.804 \| DISEASES 5887 \| RAD23B \| 1.367 \| DISEASES 222546 \| RFX6 \| 1.562 \| DISEASES 4920 \| ROR2 \| 1.726 \| DISEASES 23212 \| RRS1 \| 1.02 \| DISEASES 6303 \| SAT1 \| 1.06 \| DISEASES 404552 \| SCGB1D4 \| 1.109 \| DISEASES 871 \| SERPINH1 \| 1.277 \| DISEASES 6439 \| SFTPB \| 1.815 \| DISEASES 347734 \| SLC35B2 \| 1.027 \| DISEASES 8243 \| SMC1A \| 1.396 \| DISEASES 9126 \| SMC3 \| 1.511 \| DISEASES 80309 \| SPHKAP \| 3.133 \| DISEASES 55576 \| STAB2 \| 1.293 \| DISEASES 64220 \| STRA6 \| 1.796 \| DISEASES 6899 \| TBX1 \| 1.484 \| DISEASES 57057 \| TBX20 \| 1.805 \| DISEASES 7020 \| TFAP2A \| 3.732 \| DISEASES 7021 \| TFAP2B \| 5.549 \| DISEASES 7042 \| TGFB2 \| 1.021 \| DISEASES 7046 \| TGFBR1 \| 1.227 \| DISEASES 7048 \| TGFBR2 \| 2.715 \| DISEASES 7137 \| TNNI3 \| 2.257 \| DISEASES 7139 \| TNNT2 \| 2.769 \| DISEASES 7185 \| TRAF1 \| 1.097 \| DISEASES 79054 \| TRPM8 \| 1.033 \| DISEASES 55503 \| TRPV6 \| 1.123 \| DISEASES 7247 \| TSN \| 2.557 \| DISEASES 7273 \| TTN \| 1.946 \| DISEASES 51366 \| UBR5 \| 1.16 \| DISEASES 9213 \| XPR1 \| 1.681 \| DISEASES 7760 \| ZNF213 \| 3.643 \| DISEASES 57862 \| ZNF410 \| 1.731 \| DISEASES
Locus	(Waiting for update.)

Disease ID	311
Disease	patent arterial duct
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:45) HP:0002092 \| Pulmonary artery hypertension \| 13 HP:0000822 \| Hypertension \| 11 HP:0001518 \| Small for gestational age \| 7 HP:0012382 \| Left-to-right shunt \| 6 HP:0002617 \| Aneurysmal dilatation \| 5 HP:0001631 \| Atria septal defect \| 5 HP:0001629 \| Ventricular septal defects \| 4 HP:0001873 \| Low platelet count \| 3 HP:0004942 \| Aortic aneurysm \| 3 HP:0100806 \| Sepsis \| 3 HP:0012020 \| Right aortic arch \| 3 HP:0012383 \| Bidirectional shunt \| 3 HP:0001903 \| Anemia \| 2 HP:0011626 \| Scimitar anomaly \| 2 HP:0100584 \| Endocarditis \| 2 HP:0002098 \| Respiratory distress \| 2 HP:0001671 \| Abnormality of the cardiac septa \| 1 HP:0005162 \| Left ventricular impairment \| 1 HP:0001718 \| Mitral stenosis \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0011611 \| Interrupted aortic arch \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0011662 \| Tricuspid atresia \| 1 HP:0004971 \| Pulmonary artery hypoplasia \| 1 HP:0006689 \| Bacterial endocarditis \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0030148 \| Heart murmur \| 1 HP:0002631 \| Ascending aortic aneurysm \| 1 HP:0001889 \| Megaloblastic anemia \| 1 HP:0011641 \| Coronary artery fistula \| 1 HP:0003470 \| Inability to move \| 1 HP:0004935 \| Pulmonary atresia \| 1 HP:0004961 \| Pulmonary artery sling \| 1 HP:0004937 \| Pulmonary artery aneurysm \| 1 HP:0030682 \| Left ventricular noncompaction \| 1 HP:0002835 \| Aspiration \| 1 HP:0100632 \| Pulmonary sequestration \| 1 HP:0100033 \| Tic disorder \| 1 HP:0001684 \| Secundum atrial septal defect \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0001636 \| Tetrology of fallot \| 1 HP:0001217 \| Digital clubbing \| 1 HP:0001605 \| Vocal cord paralysis \| 1 HP:0000062 \| Ambiguous external genitalia \| 1 HP:0030746 \| Intraventricular hemorrhage \| 1

Disease ID	311
Disease	patent arterial duct
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:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1056567	19336370	7185	TRAF1	umls:C0013274	GAD	[Determination of genetic predisposition to patent ductus arteriosus in preterm infants.]	0.122367032	2009	PHF19	9	120869767	A	G
rs173365	19336370	1394	CRHR1	umls:C0013274	GAD	[Determination of genetic predisposition to patent ductus arteriosus in preterm infants.]	0.002367032	2009	CRHR1;MGC57346-CRHR1	17	45823708	A	G
rs1973028	19336370	3990	LIPC	umls:C0013274	GAD	[Determination of genetic predisposition to patent ductus arteriosus in preterm infants.]	0.002367032	2009	LIPC;LOC101928694	15	58499155	T	C
rs2817399	20581741	7021	TFAP2B	umls:C0013274	BeFree	Three independent risk factors (immature gestation, absence of antenatal glucocorticoid exposure, and presence of the rs2817399(A) allele of the gene TFAP2B) are associated with patent ductus arteriosus (PDAs) that fail to close during prostaglandin inhibition.	0.126720033	2010	TFAP2B	6	50836808	A	G
rs28360521	19336370	1565	CYP2D6	umls:C0013274	GAD	[Determination of genetic predisposition to patent ductus arteriosus in preterm infants.]	0.002367032	2009	CYP2D6	22	42132969	C	T
rs397507444	24566197	4524	MTHFR	umls:C0013274	BeFree	Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms are associated with the risk of patent ductus arteriosus (PDA) congenital heart defects.	0.002909916	2014	MTHFR	1	11794407	T	G
rs493694	19336370	5740	PTGIS	umls:C0013274	GAD	[Overall, our data support a role for genetic variations in transcription factor AP-2 beta, tumor necrosis factor receptor-associated factor 1, and prostacyclin synthase in the persistent patency of the ductus arteriosus seen in preterm infants.]	0.122638474	2009	PTGIS;LOC101927486	20	49566593	T	C
rs711752	19336370	1071	CETP	umls:C0013274	GAD	[Determination of genetic predisposition to patent ductus arteriosus in preterm infants.]	0.002367032	2009	CETP	16	56962299	G	A
rs987237	19336370	7021	TFAP2B	umls:C0013274	GAD	[Overall, our data support a role for genetic variations in transcription factor AP-2 beta, tumor necrosis factor receptor-associated factor 1, and prostacyclin synthase in the persistent patency of the ductus arteriosus seen in preterm infants.]	0.126720033	2009	TFAP2B	6	50835337	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	311
Disease	patent arterial duct
Case	(Waiting for update.)

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