PedAM

Pediatric Disease Annotations & Medicines


	tetralogy of fallot

Disease ID	57
Disease	tetralogy of fallot
Definition	A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS.
Synonym	fallot of tetralogy fallot tetralogy fallot tetralogy of fallot's tetralogy fallots tetralogy subpulmonic stenosis, ventricular septal defect, overriding aorta, and right ventricular hypertrophy tetralogy fallot tetralogy of fallot (disorder) tetralogy of fallot [disease/finding] tetralogy of fallot nos tetralogy of fallot nos (disorder) tetralogy of fallot, unspecified tetralogy of fallot, unspecified (disorder) tetralogy, fallot tetralogy, fallot's tetralogy, fallots tetrology of fallot tof tof - tetralogy of fallot ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
Orphanet	ORPHANET:3303
OMIM	OMIM:187500 OMIM:607414
DOID	DOID:6419
ICD10	ICD10CM:Q21.3
UMLS	C0039685
MeSH	D013771
SNOMED-CT	SNOMEDCT_US_2016_09_01:86299006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:48) C0018818 \| ventricular septal defect \| 17 C0034088 \| pulmonary regurgitation \| 12 C1956257 \| pulmonary stenosis \| 7 C0003507 \| aortic stenosis \| 4 C0018801 \| heart failure \| 3 C0020538 \| hypertension \| 3 C0265264 \| holt-oram syndrome \| 2 C0020542 \| pulmonary hypertension \| 2 C0034088 \| pulmonary insufficiency \| 2 C0206115 \| wagr syndrome \| 1 C0007222 \| cardiovascular disease \| 1 C0030421 \| paraganglioma \| 1 C0152101 \| hypoplastic left heart syndrome \| 1 C0018818 \| ventricular septal defects \| 1 C1535927 \| charge syndrome \| 1 C0040053 \| thrombosis \| 1 C0023798 \| lipoma \| 1 C0008925 \| cleft palate \| 1 C0036439 \| scoliosis \| 1 C0018802 \| congestive heart failure \| 1 C0034089 \| pulmonary valve stenosis \| 1 C0020305 \| hydrops fetalis \| 1 C0035302 \| retinal artery occlusion \| 1 C0162872 \| thoracic aortic aneurysm \| 1 C0013080 \| trisomy 21 \| 1 C0014121 \| infective endocarditis \| 1 C0265202 \| seckel syndrome \| 1 C1261175 \| pontocerebellar hypoplasia \| 1 C0152095 \| trisomy 13 \| 1 C0028754 \| obesity \| 1 C0012236 \| digeorge syndrome \| 1 C0024110 \| lung abscess \| 1 C1145670 \| respiratory failure \| 1 C0013069 \| double outlet right ventricle \| 1 C0155773 \| portal vein thrombosis \| 1 C0221215 \| common atrioventricular canal \| 1 C1619734 \| pulmonary arterial hypertension \| 1 C0007688 \| central retinal artery occlusion \| 1 C0031511 \| pheochromocytoma \| 1 C0023976 \| long qt syndrome \| 1 C0042373 \| vascular disease \| 1 C0040583 \| tracheal stenosis \| 1 C0008445 \| chondrodysplasia punctata \| 1 C0003486 \| aortic aneurysm \| 1 C0034063 \| pulmonary edema \| 1 C0018799 \| heart disease \| 1 C0019284 \| diaphragmatic hernia \| 1 C0021828 \| intestinal atresia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:18) NKX2-5 \| 1482 \| CLINVAR;CTD_human;ORPHANET;UNIPROT ZFPM2 \| 23414 \| CLINVAR;CTD_human;ORPHANET;UNIPROT NRP1 \| 8829 \| GWASCAT FOXC1 \| 2296 \| CTD_human FOXC2 \| 2303 \| CTD_human GATA6 \| 2627 \| CLINVAR;ORPHANET;UNIPROT GATA4 \| 2626 \| CLINVAR;ORPHANET;UNIPROT TBX1 \| 6899 \| CLINVAR;CTD_human FOXH1 \| 8928 \| CTD_human JAG1 \| 182 \| CLINVAR;CTD_human;ORPHANET;UNIPROT GPC5 \| 2262 \| GWASCAT CITED2 \| 10370 \| ORPHANET GJA5 \| 2702 \| ORPHANET GDF1 \| 2657 \| CTD_human;ORPHANET;UNIPROT HAND2 \| 9464 \| CTD_human NKX2-6 \| 137814 \| ORPHANET FEZF2 \| 55079 \| OMIM GATA5 \| 140628 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 182 \| JAG1 \| infer 1482 \| NKX2-5 \| infer 4851 \| NOTCH1 \| infer 6899 \| TBX1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:242) 7092 \| TLL1 \| DISEASES 23152 \| CIC \| DISEASES 7022 \| TFAP2C \| DISEASES 8216 \| LZTR1 \| DISEASES 5594 \| MAPK1 \| DISEASES 10278 \| EFS \| DISEASES 10857 \| PGRMC1 \| DISEASES 10084 \| PQBP1 \| DISEASES 7783 \| ZP2 \| DISEASES 2077 \| ERF \| DISEASES 3696 \| ITGB8 \| DISEASES 3199 \| HOXA2 \| DISEASES 29886 \| SNX8 \| DISEASES 657 \| BMPR1A \| DISEASES 79176 \| FBXL15 \| DISEASES 3670 \| ISL1 \| DISEASES 9421 \| HAND1 \| DISEASES 607 \| BCL9 \| DISEASES 6543 \| SLC8A2 \| DISEASES 9519 \| TBPL1 \| DISEASES 7291 \| TWIST1 \| DISEASES 6659 \| SOX4 \| DISEASES 718 \| C3 \| DISEASES 8195 \| MKKS \| DISEASES 7389 \| UROD \| DISEASES 2657 \| GDF1 \| DISEASES 23002 \| DAAM1 \| DISEASES 58513 \| EPS15L1 \| DISEASES 8854 \| ALDH1A2 \| DISEASES 2006 \| ELN \| DISEASES 8468 \| FKBP6 \| DISEASES 9997 \| SCO2 \| DISEASES 140628 \| GATA5 \| DISEASES 56033 \| BARX1 \| DISEASES 2330 \| FMO5 \| DISEASES 5565 \| PRKAB2 \| DISEASES 6627 \| SNRPA1 \| DISEASES 6538 \| SLC6A11 \| DISEASES 182 \| JAG1 \| DISEASES 222 \| ALDH3B2 \| DISEASES 8932 \| MBD2 \| DISEASES 8728 \| ADAM19 \| DISEASES 3569 \| IL6 \| DISEASES 1101 \| CHAD \| DISEASES 55997 \| CFC1 \| DISEASES 7111 \| TMOD1 \| DISEASES 23314 \| SATB2 \| DISEASES 1295 \| COL8A1 \| DISEASES 3074 \| HEXB \| DISEASES 217 \| ALDH2 \| DISEASES 22850 \| ADNP2 \| DISEASES 6521 \| SLC4A1 \| DISEASES 27130 \| INVS \| DISEASES 10847 \| SRCAP \| DISEASES 27443 \| CECR2 \| DISEASES 25939 \| SAMHD1 \| DISEASES 7353 \| UFD1L \| DISEASES 51586 \| MED15 \| DISEASES 7290 \| HIRA \| DISEASES 3791 \| KDR \| DISEASES 3299 \| HSF4 \| DISEASES 55212 \| BBS7 \| DISEASES 55081 \| IFT57 \| DISEASES 8626 \| TP63 \| DISEASES 1950 \| EGF \| DISEASES 10512 \| SEMA3C \| DISEASES 8379 \| MAD1L1 \| DISEASES 7008 \| TEF \| DISEASES 10150 \| MBNL2 \| DISEASES 585 \| BBS4 \| DISEASES 5373 \| PMM2 \| DISEASES 2627 \| GATA6 \| DISEASES 5211 \| PFKL \| DISEASES 10055 \| SAE1 \| DISEASES 8547 \| FCN3 \| DISEASES 2702 \| GJA5 \| DISEASES 10262 \| SF3B4 \| DISEASES 10637 \| LEFTY1 \| DISEASES 5972 \| REN \| DISEASES 134864 \| TAAR1 \| DISEASES 4851 \| NOTCH1 \| DISEASES 10398 \| MYL9 \| DISEASES 1489 \| CTF1 \| DISEASES 5805 \| PTS \| DISEASES 3742 \| KCNA6 \| DISEASES 653275 \| CFC1B \| DISEASES 2697 \| GJA1 \| DISEASES 4645 \| MYO5B \| DISEASES 23118 \| TAB2 \| DISEASES 4838 \| NODAL \| DISEASES 7547 \| ZIC3 \| DISEASES 64768 \| IPPK \| DISEASES 909 \| CD1A \| DISEASES 1142 \| CHRNB3 \| DISEASES 70 \| ACTC1 \| DISEASES 6159 \| RPL29 \| DISEASES 285203 \| EOGT \| DISEASES 54756 \| IL17RD \| DISEASES 8819 \| SAP30 \| DISEASES 79685 \| SAP30L \| DISEASES 6469 \| SHH \| DISEASES 9317 \| PTER \| DISEASES 1353 \| COX11 \| DISEASES 4837 \| NNMT \| DISEASES 55897 \| MESP1 \| DISEASES 5308 \| PITX2 \| DISEASES 6588 \| SLN \| DISEASES 5046 \| PCSK6 \| DISEASES 84342 \| COG8 \| DISEASES 10815 \| CPLX1 \| DISEASES 1501 \| CTNND2 \| DISEASES 2186 \| BPTF \| DISEASES 2147 \| F2 \| DISEASES 155465 \| AGR3 \| DISEASES 3265 \| HRAS \| DISEASES 6910 \| TBX5 \| DISEASES 23209 \| MLC1 \| DISEASES 253558 \| LCLAT1 \| DISEASES 11149 \| BVES \| DISEASES 11238 \| CA5B \| DISEASES 2744 \| GLS \| DISEASES 3752 \| KCND3 \| DISEASES 137814 \| NKX2-6 \| DISEASES 78987 \| CRELD1 \| DISEASES 3039 \| HBA1 \| DISEASES 10743 \| RAI1 \| DISEASES 7706 \| TRIM25 \| DISEASES 2200 \| FBN1 \| DISEASES 7025 \| NR2F1 \| DISEASES 2303 \| FOXC2 \| DISEASES 64327 \| LMBR1 \| DISEASES 161882 \| ZFPM1 \| DISEASES 1482 \| NKX2-5 \| DISEASES 6331 \| SCN5A \| DISEASES 9146 \| HGS \| DISEASES 54584 \| GNB1L \| DISEASES 5136 \| PDE1A \| DISEASES 6899 \| TBX1 \| DISEASES 6546 \| SLC8A1 \| DISEASES 10052 \| GJC1 \| DISEASES 2152 \| F3 \| DISEASES 2626 \| GATA4 \| DISEASES 5569 \| PKIA \| DISEASES 4987 \| OPRL1 \| DISEASES 7135 \| TNNI1 \| DISEASES 11133 \| KPTN \| DISEASES 3091 \| HIF1A \| DISEASES 554 \| AVPR2 \| DISEASES 51337 \| THEM6 \| DISEASES 473 \| RERE \| DISEASES 3266 \| ERAS \| DISEASES 4208 \| MEF2C \| DISEASES 3720 \| JARID2 \| DISEASES 54345 \| SOX18 \| DISEASES 7137 \| TNNI3 \| DISEASES 132884 \| EVC2 \| DISEASES 3198 \| HOXA1 \| DISEASES 2624 \| GATA2 \| DISEASES 1399 \| CRKL \| DISEASES 4205 \| MEF2A \| DISEASES 6050 \| RNH1 \| DISEASES 5358 \| PLS3 \| DISEASES 7625 \| ZNF74 \| DISEASES 5625 \| PRODH \| DISEASES 8940 \| TOP3B \| DISEASES 23644 \| EDC4 \| DISEASES 9464 \| HAND2 \| DISEASES 147409 \| DSG4 \| DISEASES 84436 \| ZNF528 \| DISEASES 8662 \| EIF3B \| DISEASES 4916 \| NTRK3 \| DISEASES 1312 \| COMT \| DISEASES 7179 \| TPTE \| DISEASES 9851 \| KIAA0753 \| DISEASES 4509 \| MT-ATP8 \| DISEASES 6262 \| RYR2 \| DISEASES 6991 \| TCTE3 \| DISEASES 7044 \| LEFTY2 \| DISEASES 5362 \| PLXNA2 \| DISEASES 5208 \| PFKFB2 \| DISEASES 7139 \| TNNT2 \| DISEASES 25902 \| MTHFD1L \| DISEASES 10370 \| CITED2 \| DISEASES 57216 \| VANGL2 \| DISEASES 844 \| CASQ1 \| DISEASES 2117 \| ETV3 \| DISEASES 23493 \| HEY2 \| DISEASES 55974 \| SLC50A1 \| DISEASES 51205 \| ACP6 \| DISEASES 9557 \| CHD1L \| DISEASES 257 \| ALX3 \| DISEASES 1486 \| CTBS \| DISEASES 51060 \| TXNDC12 \| DISEASES 7422 \| VEGFA \| DISEASES 8643 \| PTCH2 \| DISEASES 401262 \| CRIP3 \| DISEASES 50945 \| TBX22 \| DISEASES 5090 \| PBX3 \| DISEASES 84890 \| ADO \| DISEASES 1955 \| MEGF9 \| DISEASES 5089 \| PBX2 \| DISEASES 3303 \| HSPA1A \| DISEASES 3055 \| HCK \| DISEASES 4879 \| NPPB \| DISEASES 4878 \| NPPA \| DISEASES 4524 \| MTHFR \| DISEASES 2262 \| GPC5 \| DISEASES 8928 \| FOXH1 \| DISEASES 9356 \| SLC22A6 \| DISEASES 6520 \| SLC3A2 \| DISEASES 2296 \| FOXC1 \| DISEASES 414 \| ARSD \| DISEASES 7021 \| TFAP2B \| DISEASES 7026 \| NR2F2 \| DISEASES 54826 \| GIN1 \| DISEASES 22995 \| CEP152 \| DISEASES 1826 \| DSCAM \| DISEASES 23414 \| ZFPM2 \| DISEASES 57057 \| TBX20 \| DISEASES 84812 \| PLCD4 \| DISEASES 55636 \| CHD7 \| DISEASES 150572 \| SMYD1 \| DISEASES 117579 \| RLN3 \| DISEASES 9569 \| GTF2IRD1 \| DISEASES 5795 \| PTPRJ \| DISEASES 159371 \| SLC35G1 \| DISEASES 5817 \| PVR \| DISEASES 339829 \| CCDC39 \| DISEASES 8318 \| CDC45 \| DISEASES 34 \| ACADM \| DISEASES 30819 \| KCNIP2 \| DISEASES 79776 \| ZFHX4 \| DISEASES 9414 \| TJP2 \| DISEASES 8218 \| CLTCL1 \| DISEASES 4522 \| MTHFD1 \| DISEASES 390010 \| NKX1-2 \| DISEASES 4212 \| MEIS2 \| DISEASES 64220 \| STRA6 \| DISEASES 6234 \| RPS28 \| DISEASES 118425 \| PCAT4 \| DISEASES 9298 \| SNORD31 \| DISEASES 692225 \| SNORD94 \| DISEASES
Locus	Symbol \| Locus(Total Locus:10) GJA5 \| 1q21.2 GATA4 \| 8p23.1 CITED2 \| 6q24.1 NKX2-5 \| 5q34 ZFPM2 \| 8q23 NKX2-6 \| 8p21.2 GDF1 \| 19p13.11 JAG1 \| 20p12.2 GATA6 \| 18q11.2 GATA5 \| 20q13.33

Disease ID	57
Disease	tetralogy of fallot
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:17) HP:0001511 \| Intrauterine growth retardation HP:0000520 \| Anterior bulging of the globe of eye HP:0000337 \| Increased bitemporal dimension HP:0000268 \| Dolichocephaly HP:0000520 \| Proptosis HP:0001156 \| Brachydactyly syndrome HP:0001636 \| Tetrology of fallot HP:0004467 \| Preauricular pit HP:0000028 \| Cryptorchidism HP:0000337 \| Broad forehead HP:0001636 \| Tetralogy of Fallot HP:0009891 \| Underdeveloped supraorbital ridges HP:0005105 \| Abnormal nasal morphology HP:0004209 \| Clinodactyly of the 5th finger HP:0004467 \| Pit in front of the ear HP:0000233 \| Thin vermilion border HP:0004209 \| Clinodactyly of fifth digit
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:83) HP:0004935 \| Pulmonary atresia \| 31 HP:0005134 \| Absence of the pulmonary valve \| 29 HP:0001629 \| Ventricular septal defects \| 17 HP:0001642 \| Pulmonic stenosis \| 8 HP:0006695 \| Atrioventricular septal defect, partial \| 8 HP:0011675 \| Arrhythmias \| 6 HP:0001674 \| Complete atrioventricular septal defect \| 6 HP:0001631 \| Atria septal defect \| 5 HP:0001643 \| Persistent ductus arteriosus \| 5 HP:0001649 \| Tachycardia \| 4 HP:0011660 \| Anomalous origin of one pulmonary artery from ascending aorta \| 4 HP:0001650 \| Valvular aortic stenosis \| 4 HP:0011590 \| Double aortic arch \| 4 HP:0001627 \| Congenital heart defects \| 4 HP:0001680 \| Coarctation of aorta \| 3 HP:0000822 \| Hypertension \| 3 HP:0004308 \| Ventricular arrhythmia \| 3 HP:0001660 \| Common arterial trunk \| 3 HP:0001635 \| Congestive heart failure \| 3 HP:0002617 \| Aneurysmal dilatation \| 3 HP:0004756 \| Ventricular tachycardia \| 3 HP:0000969 \| Dropsy \| 2 HP:0000961 \| Cyanosis \| 2 HP:0001297 \| Cerebral vascular events \| 2 HP:0030049 \| Brain abscess \| 2 HP:0100790 \| Hernia \| 2 HP:0004415 \| Pulmonary artery stenosis \| 2 HP:0002616 \| Aortic root dilatation \| 2 HP:0011683 \| Restrictive ventricular septal defect \| 2 HP:0002119 \| Ventricular dilatation \| 2 HP:0001682 \| Subvalvular aortic stenosis \| 2 HP:0010444 \| Puolmonary valve insufficiency \| 2 HP:0002092 \| Pulmonary artery hypertension \| 2 HP:0010316 \| Ebstein's anomaly of the tricuspid valve \| 1 HP:0000776 \| Diaphragmatic hernia \| 1 HP:0001724 \| Aortic dilatation \| 1 HP:0030242 \| Blood clot in portal vein \| 1 HP:0009917 \| Persistent pupillary membrane \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0004960 \| Absent pulmonary artery \| 1 HP:0004325 \| Low body weight \| 1 HP:0001645 \| Sudden cardiac death \| 1 HP:0005182 \| Bicuspid pulmonary valve \| 1 HP:0002668 \| Paragangliomas \| 1 HP:0012383 \| Bidirectional shunt \| 1 HP:0001719 \| Double-outlet right ventricle \| 1 HP:0001667 \| Right ventricular hypertrophy \| 1 HP:0012032 \| Lipoma \| 1 HP:0004937 \| Pulmonary artery aneurysm \| 1 HP:0002566 \| Intestinal malrotation \| 1 HP:0011566 \| Cor triatriatum dexter \| 1 HP:0001669 \| Transposition of the great arteries \| 1 HP:0002089 \| Hypoplastic lungs \| 1 HP:0002777 \| Tracheal stenosis \| 1 HP:0006689 \| Bacterial endocarditis \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0003974 \| Absent ossification/absence of radius \| 1 HP:0011681 \| Subarterial ventricular septal defect \| 1 HP:0002650 \| Scoliosis \| 1 HP:0012727 \| Thoracic aortic aneurysm \| 1 HP:0000110 \| Renal dysplasia \| 1 HP:0001518 \| Small for gestational age \| 1 HP:0001321 \| Small cerebellum \| 1 HP:0002664 \| Neoplasia \| 1 HP:0001513 \| Obesity \| 1 HP:0010448 \| Large intestinal atresia \| 1 HP:0012020 \| Right aortic arch \| 1 HP:0001789 \| Hydrops fetalis \| 1 HP:0001683 \| Ectopia cordis \| 1 HP:0011641 \| Coronary artery fistula \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0200048 \| Cyanotic episode \| 1 HP:0002666 \| Pheochromocytoma \| 1 HP:0001657 \| Prolonged QT interval \| 1 HP:0001651 \| Thoracic situs inversus \| 1 HP:0004942 \| Aortic aneurysm \| 1 HP:0011100 \| Intestinal atresia \| 1 HP:0005133 \| Right ventricular dilatation \| 1 HP:0005110 \| Atrial fibrillation \| 1 HP:0009730 \| Rhabdomyoma \| 1 HP:0100598 \| Pulmonary oedema \| 1 HP:0003546 \| Exercise intolerance \| 1 HP:0012266 \| T-wave alternans \| 1

Disease ID	57
Disease	tetralogy of fallot
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:28)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893902	NA	1482	NKX2-5	umls:C0039685	CLINVAR	NA	0.490358398	NA	NKX2-5	5	173232888	G	A
rs104893905	NA	1482	NKX2-5	umls:C0039685	CLINVAR	NA	0.490358398	NA	NKX2-5	5	173232898	G	A
rs115099192	21110066	2626	GATA4	umls:C0039685	BeFree	Two novel mutations in the coding region of GATA4 were identified, namely, 487C >T (Pro163Ser) in exon 1 in a child with tetralogy of Fallot and 1220C >A (Pro407Gln) in exon 6 in a pediatric patient with outlet membranous ventricular septal defect.	0.372539865	2010	GATA4	8	11758366	C	A,G
rs115099192	19302747	2626	GATA4	umls:C0039685	BeFree	Two heterozygous missense mutations of c.1220C > A and c.1273G > A in GATA4 gene, which cause the amino acid residue changes of P407Q and D425N in GATA4, were found in a patient with tetralogy of Fallot and a patient with ventricular septal defect, respectively.	0.372539865	2009	GATA4	8	11758366	C	A,G
rs115099192	18672102	2626	GATA4	umls:C0039685	UNIPROT	GATA4 mutations in 486 Chinese patients with congenital heart disease.	0.372539865	2008	GATA4	8	11758366	C	A,G
rs115099192	NA	2626	GATA4	umls:C0039685	CLINVAR	NA	0.372539865	NA	GATA4	8	11758366	C	A,G
rs121908601	NA	23414	ZFPM2	umls:C0039685	CLINVAR	NA	0.561900093	NA	ZFPM2	8	105419192	A	G
rs121908601	14517948	23414	ZFPM2	umls:C0039685	UNIPROT	Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.	0.561900093	2003	ZFPM2	8	105419192	A	G
rs145895196	23956173	100188856	DEL22Q11.2	umls:C0039685	BeFree	We report on a patient with tetralogy of Fallot (TOF) and clinical features of DG/VCFS, hemizygous for del22q11.2 and heterozygous for the 2810G > A (p.Arg937Gln) mutation in the JAG1 gene associated with Alagille syndrome.	0.000542884	2013	JAG1	20	10641566	C	A,T
rs2228638	23297363	8829	NRP1	umls:C0039685	GWASCAT	Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.	0.12	2013	NRP1	10	33186354	C	T
rs2228638	24594544	4745	NELL1	umls:C0039685	BeFree	We found that rs2228638 in NRP1 on 10p11 was significantly increased the risk of TOF (OR = 1.52, 95% CI = 1.13-2.04, P = 0.006), but not in other subgroups including ASD and VSD.	0.000271442	2014	NRP1	10	33186354	C	T
rs28374544	14517948	23414	ZFPM2	umls:C0039685	UNIPROT	Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.	0.561900093	2003	ZFPM2;ZFPM2-AS1	8	105802051	A	G
rs28936670	17891434	1482	NKX2-5	umls:C0039685	BeFree	They found one previously documented NKX2-5 missense alteration, heterozygous c.73C>T (p.Arg25Cys), in a 10-year-old boy with tetralogy of Fallot.	0.490358398	2008	NKX2-5	5	173235011	G	A
rs28936670	NA	1482	NKX2-5	umls:C0039685	CLINVAR	NA	0.490358398	NA	NKX2-5	5	173235011	G	A
rs28939668	19780835	1950	EGF	umls:C0039685	BeFree	A specific G274D mutation in the second epidermal growth factor repeat of the Jagged-1 was found to correlate with tetralogy of Fallot symptoms but not with usual Alagille syndrome phenotypes.	0.000271442	2009	JAG1	20	10652533	C	T
rs28939668	12649809	182	JAG1	umls:C0039685	BeFree	We have studied a JAG1 missense mutation (JAG1-G274D) that was previously identified in 13 individuals from an extended family with cardiac defects of the type seen in patients with AGS (e.g., peripheral pulmonic stenosis and tetralogy of Fallot) in the absence of liver dysfunction.	0.489001189	2003	JAG1	20	10652533	C	T
rs28939668	NA	182	JAG1	umls:C0039685	CLINVAR	NA	0.489001189	NA	JAG1	20	10652533	C	T
rs28939668	11152664	182	JAG1	umls:C0039685	BeFree	Evaluation of candidate loci in a large kindred segregating autosomal dominant ToF with reduced penetrance culminated in identification of a missense mutation (G274D) in JAG1, the gene encoding jagged1, a Notch ligand expressed in the developing right heart.	0.489001189	2001	JAG1	20	10652533	C	T
rs28939668	11152664	182	JAG1	umls:C0039685	UNIPROT	Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.	0.489001189	2001	JAG1	20	10652533	C	T
rs28939668	19780835	182	JAG1	umls:C0039685	BeFree	A specific G274D mutation in the second epidermal growth factor repeat of the Jagged-1 was found to correlate with tetralogy of Fallot symptoms but not with usual Alagille syndrome phenotypes.	0.489001189	2009	JAG1	20	10652533	C	T
rs374609439	17445342	1535	CYBA	umls:C0039685	BeFree	Polymorphism C242T of the gene of the p22phox subunit for nicotinamide adenine dinucleotide phosphate oxidase, and erythrocytic antioxidant enzymes, in patients with tetralogy of Fallot.	0.002995792	2007	DUOX2;DUOXA2	15	45116160	T	C
rs387906769	21110066	2626	GATA4	umls:C0039685	BeFree	Two novel mutations in the coding region of GATA4 were identified, namely, 487C >T (Pro163Ser) in exon 1 in a child with tetralogy of Fallot and 1220C >A (Pro407Gln) in exon 6 in a pediatric patient with outlet membranous ventricular septal defect.	0.372539865	2010	GATA4	8	11708799	C	T
rs387906769	NA	2626	GATA4	umls:C0039685	CLINVAR	NA	0.372539865	NA	GATA4	8	11708799	C	T
rs387906814	NA	2627	GATA6	umls:C0039685	CLINVAR	NA	0.363452799	NA	GATA6	18	22171736	C	G
rs387906816	NA	2627	GATA6	umls:C0039685	CLINVAR	NA	0.363452799	NA	GATA6	18	22171695	G	A
rs56208331	NA	2626	GATA4	umls:C0039685	CLINVAR	NA	0.372539865	NA	GATA4	8	11758419	G	A
rs56208331	19302747	2626	GATA4	umls:C0039685	BeFree	Two heterozygous missense mutations of c.1220C > A and c.1273G > A in GATA4 gene, which cause the amino acid residue changes of P407Q and D425N in GATA4, were found in a patient with tetralogy of Fallot and a patient with ventricular septal defect, respectively.	0.372539865	2009	GATA4	8	11758419	G	A
rs7982677	23297363	2262	GPC5	umls:C0039685	GWASCAT	Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.	0.12	2013	GPC5	13	92336070	C	A

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

GWASdb Snp Trait(Total Genotypes:26)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
1	147326222	rs1353428	C	A	rs1353428	23297363	1.00E-04	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
3	158430706	rs9864589	A	G	rs9864589	23297363	1.71E-06	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
3	158453279	rs7646881	C	A	rs7646881	23297363	2.00E-06	NA	1.39	[1.22-1.58]	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	rs7646881-A	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
9	33117524	rs2031902	C	T	rs2031902	23297363	6.52E-05	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
9	33125279	rs4879666	G	A	rs4879666	23297363	5.60E-05	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
9	33141752	rs2770807	G	A	rs2770807	23297363	6.11E-05	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
10	8954224	rs2388896	A	G	rs2388896	23297363	9.00E-08	NA	1.28	[1.15-1.43]	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	rs2388896-G	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
10	8961614	rs1857231	G	A	rs1857231	23297363	1.87E-07	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
10	33475282	rs2228638	C	T	rs2228638	23297363	2.00E-07	NA	1.45	[1.24-1.69]	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	rs2228638-A	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
10	33484829	rs734186	G	A	rs734186	23297363	2.52E-05	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
12	111884608	rs3184504	T	C	rs3184504	23297363	1.48E-07	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
12	112007756	rs653178	C	T	rs653178	23297363	1.08E-07	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
12	112072424	rs11065987	A	G	rs11065987	23297363	8.00E-11	NA	1.34	[1.21-1.50]	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	rs11065987-G	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
12	112486818	rs17696736	A	G	rs17696736	23297363	1.44E-08	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
12	112610714	rs11066188	G	A	rs11066188	23297363	2.86E-09	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
12	112906415	rs11066320	A	G	rs11066320	23297363	2.90E-08	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
12	113031474	rs233722	G	A	rs233722	23297363	1.75E-09	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
12	113039943	rs233716	C	T	rs233716	23297363	8.43E-09	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
12	131121133	rs10848164	A	G	rs10848164	23297363	2.00E-04	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
13	92988323	rs7982677	C	A	rs7982677	23297363	3.00E-09	NA	1.29	[1.15-1.44]	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	rs7982677-A	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
13	92994509	rs4771856	C	A	rs4771856	23297363	2.77E-07	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
15	33092962	rs12593223	G	A	rs12593223	23297363	1.35E-05	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
16	52821637	rs1420258	A	G	rs1420258	23297363	3.52E-06	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
16	52831462	rs6499100	T	C	rs6499100	23297363	1.00E-06	NA	1.26	[1.14-1.40]	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	rs6499100-A	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
16	52833422	rs1579237	T	C	rs1579237	23297363	1.53E-06	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't
18	56616346	rs4496254	G	A	rs4496254	23297363	1.00E-04	NA	NA	NA	835 European ancestry cases; 5,159 European ancestry controls	European(5994)	ALL(5994)	EUR(5994)	ALL(5994)	Tetralogy of Fallot	HPOID:0001636	Tetralogy of Fallot	DOID:6419	tetralogy of Fallot	NA	NA	EFOID:0004894	tetralogy of fallot	Congenital heart disease	NA	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

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

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0039685	phenylephrine	D010656	59-42-7	tetralogy of fallot	MESH:D013771	therapeutic	14617591

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

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