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	tetralogy of fallot

Disease ID	172
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:49) C0018818 \| ventricular septal defect \| 17 C0034088 \| pulmonary regurgitation \| 12 C1956257 \| pulmonary stenosis \| 7 C0003507 \| aortic stenosis \| 4 C0020538 \| hypertension \| 3 C0018801 \| heart failure \| 3 C0034088 \| pulmonary insufficiency \| 2 C0013080 \| trisomy 21 \| 2 C0265264 \| holt-oram syndrome \| 2 C0020542 \| pulmonary hypertension \| 2 C0152095 \| trisomy 13 \| 1 C0265202 \| seckel syndrome \| 1 C0034063 \| pulmonary edema \| 1 C0013990 \| emphysema \| 1 C0035302 \| retinal artery occlusion \| 1 C0018802 \| congestive heart failure \| 1 C0023976 \| long qt syndrome \| 1 C0024110 \| lung abscess \| 1 C0042373 \| vascular disease \| 1 C0007222 \| cardiovascular disease \| 1 C0040583 \| tracheal stenosis \| 1 C0162872 \| thoracic aortic aneurysm \| 1 C0221215 \| common atrioventricular canal \| 1 C1261175 \| pontocerebellar hypoplasia \| 1 C0020305 \| hydrops fetalis \| 1 C0013069 \| double outlet right ventricle \| 1 C0152101 \| hypoplastic left heart syndrome \| 1 C0003486 \| aortic aneurysm \| 1 C0019284 \| diaphragmatic hernia \| 1 C1535927 \| charge syndrome \| 1 C0014121 \| infective endocarditis \| 1 C0028754 \| obesity \| 1 C0018799 \| heart disease \| 1 C0021828 \| intestinal atresia \| 1 C0018818 \| ventricular septal defects \| 1 C0031511 \| pheochromocytoma \| 1 C0155773 \| portal vein thrombosis \| 1 C0040053 \| thrombosis \| 1 C0036439 \| scoliosis \| 1 C1619734 \| pulmonary arterial hypertension \| 1 C0008445 \| chondrodysplasia punctata \| 1 C0012236 \| digeorge syndrome \| 1 C0008925 \| cleft palate \| 1 C0023798 \| lipoma \| 1 C1145670 \| respiratory failure \| 1 C0034089 \| pulmonary valve stenosis \| 1 C0007688 \| central retinal artery occlusion \| 1 C0206115 \| wagr syndrome \| 1 C0030421 \| paraganglioma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:18) 2296 \| FOXC1 \| CTD_human 2627 \| GATA6 \| CLINVAR;ORPHANET;UNIPROT 2262 \| GPC5 \| GWASCAT 1482 \| NKX2-5 \| CLINVAR;CTD_human;ORPHANET;UNIPROT 137814 \| NKX2-6 \| ORPHANET 6899 \| TBX1 \| CLINVAR;CTD_human 55079 \| FEZF2 \| OMIM 2657 \| GDF1 \| CTD_human;ORPHANET;UNIPROT 2626 \| GATA4 \| CLINVAR;ORPHANET;UNIPROT 23414 \| ZFPM2 \| CLINVAR;CTD_human;ORPHANET;UNIPROT 2303 \| FOXC2 \| CTD_human 182 \| JAG1 \| CLINVAR;CTD_human;ORPHANET;UNIPROT 140628 \| GATA5 \| ORPHANET 2702 \| GJA5 \| ORPHANET 10370 \| CITED2 \| ORPHANET 9464 \| HAND2 \| CTD_human 8928 \| FOXH1 \| CTD_human 8829 \| NRP1 \| GWASCAT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) 182 \| JAG1 \| CIPHER;CTD_human 1482 \| NKX2-5 \| CIPHER;CTD_human 4851 \| NOTCH1 \| CIPHER 6899 \| TBX1 \| CIPHER;CTD_human 2296 \| FOXC1 \| CTD_human 2303 \| FOXC2 \| CTD_human 9464 \| HAND2 \| CTD_human 8928 \| FOXH1 \| CTD_human 2657 \| GDF1 \| CTD_human 23414 \| ZFPM2 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:119) 34 \| ACADM \| 1.262 \| DISEASES 51205 \| ACP6 \| 2.6 \| DISEASES 84890 \| ADO \| 1.613 \| DISEASES 257 \| ALX3 \| 1.869 \| DISEASES 414 \| ARSD \| 1.675 \| DISEASES 554 \| AVPR2 \| 1.502 \| DISEASES 844 \| CASQ1 \| 1.514 \| DISEASES 339829 \| CCDC39 \| 2.007 \| DISEASES 8318 \| CDC45 \| 1.673 \| DISEASES 22995 \| CEP152 \| 2.305 \| DISEASES 9557 \| CHD1L \| 1.004 \| DISEASES 55636 \| CHD7 \| 1.401 \| DISEASES 10370 \| CITED2 \| 3.633 \| DISEASES 8218 \| CLTCL1 \| 3.514 \| DISEASES 1312 \| COMT \| 1.537 \| DISEASES 78987 \| CRELD1 \| 6.379 \| DISEASES 401262 \| CRIP3 \| 2.614 \| DISEASES 1399 \| CRKL \| 3.145 \| DISEASES 1486 \| CTBS \| 1.573 \| DISEASES 1826 \| DSCAM \| 2.494 \| DISEASES 147409 \| DSG4 \| 2.771 \| DISEASES 23644 \| EDC4 \| 1.486 \| DISEASES 8662 \| EIF3B \| 2.4 \| DISEASES 3266 \| ERAS \| 1.869 \| DISEASES 2117 \| ETV3 \| 1.49 \| DISEASES 132884 \| EVC2 \| 2.541 \| DISEASES 2152 \| F3 \| 1.253 \| DISEASES 2200 \| FBN1 \| 1.079 \| DISEASES 2296 \| FOXC1 \| 1.548 \| DISEASES 2303 \| FOXC2 \| 1.668 \| DISEASES 8928 \| FOXH1 \| 1.507 \| DISEASES 2624 \| GATA2 \| 1.287 \| DISEASES 2626 \| GATA4 \| 5.231 \| DISEASES 54826 \| GIN1 \| 1.808 \| DISEASES 10052 \| GJC1 \| 2.142 \| DISEASES 54584 \| GNB1L \| 1.488 \| DISEASES 2262 \| GPC5 \| 2.416 \| DISEASES 9569 \| GTF2IRD1 \| 1.706 \| DISEASES 9464 \| HAND2 \| 2.394 \| DISEASES 3039 \| HBA1 \| 1.632 \| DISEASES 3055 \| HCK \| 2.145 \| DISEASES 23493 \| HEY2 \| 2.954 \| DISEASES 9146 \| HGS \| 1.103 \| DISEASES 3091 \| HIF1A \| 1.209 \| DISEASES 3198 \| HOXA1 \| 1.624 \| DISEASES 3303 \| HSPA1A \| 1.623 \| DISEASES 3720 \| JARID2 \| 1.678 \| DISEASES 30819 \| KCNIP2 \| 1.572 \| DISEASES 9851 \| KIAA0753 \| 1.309 \| DISEASES 11133 \| KPTN \| 2.282 \| DISEASES 7044 \| LEFTY2 \| 1.466 \| DISEASES 64327 \| LMBR1 \| 2.061 \| DISEASES 4205 \| MEF2A \| 1.519 \| DISEASES 4208 \| MEF2C \| 1.614 \| DISEASES 1955 \| MEGF9 \| 2.813 \| DISEASES 4212 \| MEIS2 \| 1.805 \| DISEASES 4509 \| MT-ATP8 \| 1.514 \| DISEASES 4522 \| MTHFD1 \| 2.505 \| DISEASES 25902 \| MTHFD1L \| 2.009 \| DISEASES 4524 \| MTHFR \| 1.882 \| DISEASES 390010 \| NKX1-2 \| 3.421 \| DISEASES 1482 \| NKX2-5 \| 5.282 \| DISEASES 4878 \| NPPA \| 1.944 \| DISEASES 4879 \| NPPB \| 1.904 \| DISEASES 7025 \| NR2F1 \| 1.21 \| DISEASES 7026 \| NR2F2 \| 1.012 \| DISEASES 4916 \| NTRK3 \| 1.288 \| DISEASES 4987 \| OPRL1 \| 1.208 \| DISEASES 5089 \| PBX2 \| 1.751 \| DISEASES 5090 \| PBX3 \| 1.588 \| DISEASES 118425 \| PCAT4 \| 1.255 \| DISEASES 5136 \| PDE1A \| 2.046 \| DISEASES 5208 \| PFKFB2 \| 1.83 \| DISEASES 5569 \| PKIA \| 2.408 \| DISEASES 84812 \| PLCD4 \| 2.723 \| DISEASES 5358 \| PLS3 \| 1.301 \| DISEASES 5362 \| PLXNA2 \| 1.564 \| DISEASES 5625 \| PRODH \| 1.75 \| DISEASES 8643 \| PTCH2 \| 1.156 \| DISEASES 5795 \| PTPRJ \| 1.207 \| DISEASES 5817 \| PVR \| 1.952 \| DISEASES 10743 \| RAI1 \| 1.807 \| DISEASES 473 \| RERE \| 2.015 \| DISEASES 117579 \| RLN3 \| 1.816 \| DISEASES 6050 \| RNH1 \| 1.725 \| DISEASES 6234 \| RPS28 \| 2.328 \| DISEASES 6262 \| RYR2 \| 1.285 \| DISEASES 6331 \| SCN5A \| 1.329 \| DISEASES 9356 \| SLC22A6 \| 1.252 \| DISEASES 159371 \| SLC35G1 \| 2.337 \| DISEASES 6520 \| SLC3A2 \| 1.428 \| DISEASES 55974 \| SLC50A1 \| 1.336 \| DISEASES 6546 \| SLC8A1 \| 2.039 \| DISEASES 150572 \| SMYD1 \| 3.379 \| DISEASES 9298 \| SNORD31 \| 2.583 \| DISEASES 692225 \| SNORD94 \| 2.356 \| DISEASES 54345 \| SOX18 \| 1.433 \| DISEASES 64220 \| STRA6 \| 1.507 \| DISEASES 6899 \| TBX1 \| 4.765 \| DISEASES 57057 \| TBX20 \| 4.036 \| DISEASES 50945 \| TBX22 \| 1.258 \| DISEASES 6991 \| TCTE3 \| 2.941 \| DISEASES 7021 \| TFAP2B \| 1.338 \| DISEASES 51337 \| THEM6 \| 1.474 \| DISEASES 9414 \| TJP2 \| 1.146 \| DISEASES 7135 \| TNNI1 \| 2.016 \| DISEASES 7137 \| TNNI3 \| 2.68 \| DISEASES 7139 \| TNNT2 \| 1.302 \| DISEASES 8940 \| TOP3B \| 2.312 \| DISEASES 7179 \| TPTE \| 1.558 \| DISEASES 7706 \| TRIM25 \| 1.158 \| DISEASES 51060 \| TXNDC12 \| 2.122 \| DISEASES 57216 \| VANGL2 \| 2.174 \| DISEASES 7422 \| VEGFA \| 1.18 \| DISEASES 79776 \| ZFHX4 \| 2.337 \| DISEASES 161882 \| ZFPM1 \| 1.076 \| DISEASES 23414 \| ZFPM2 \| 4.993 \| DISEASES 84436 \| ZNF528 \| 3.513 \| DISEASES 7625 \| ZNF74 \| 3.422 \| 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	172
Disease	tetralogy of fallot
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:17) HP:0000520 \| Anterior bulging of the globe of eye HP:0000028 \| Cryptorchidism HP:0000520 \| Proptosis HP:0004209 \| Clinodactyly of fifth digit HP:0004467 \| Pit in front of the ear HP:0001636 \| Tetrology of fallot HP:0001636 \| Tetralogy of Fallot HP:0004467 \| Preauricular pit HP:0005105 \| Abnormal nasal morphology HP:0000233 \| Thin vermilion border HP:0001511 \| Intrauterine growth retardation HP:0000337 \| Increased bitemporal dimension HP:0000268 \| Dolichocephaly HP:0009891 \| Underdeveloped supraorbital ridges HP:0004209 \| Clinodactyly of the 5th finger HP:0000337 \| Broad forehead HP:0001156 \| Brachydactyly syndrome
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:84) HP:0004935 \| Pulmonary atresia \| 31 HP:0005134 \| Absence of the pulmonary valve \| 29 HP:0001629 \| Ventricular septal defects \| 17 HP:0006695 \| Atrioventricular septal defect, partial \| 8 HP:0001642 \| Pulmonic stenosis \| 8 HP:0011675 \| Arrhythmias \| 6 HP:0001674 \| Complete atrioventricular septal defect \| 6 HP:0001643 \| Persistent ductus arteriosus \| 5 HP:0001627 \| Congenital heart defects \| 4 HP:0011590 \| Double aortic arch \| 4 HP:0011660 \| Anomalous origin of one pulmonary artery from ascending aorta \| 4 HP:0001650 \| Valvular aortic stenosis \| 4 HP:0001649 \| Tachycardia \| 4 HP:0001631 \| Atria septal defect \| 4 HP:0001660 \| Common arterial trunk \| 3 HP:0002617 \| Aneurysmal dilatation \| 3 HP:0004308 \| Ventricular arrhythmia \| 3 HP:0004756 \| Ventricular tachycardia \| 3 HP:0000822 \| Hypertension \| 3 HP:0001635 \| Congestive heart failure \| 3 HP:0001680 \| Coarctation of aorta \| 3 HP:0002092 \| Pulmonary artery hypertension \| 2 HP:0010444 \| Puolmonary valve insufficiency \| 2 HP:0001297 \| Cerebral vascular events \| 2 HP:0002616 \| Aortic root dilatation \| 2 HP:0000969 \| Dropsy \| 2 HP:0002119 \| Ventricular dilatation \| 2 HP:0100790 \| Hernia \| 2 HP:0011683 \| Restrictive ventricular septal defect \| 2 HP:0030049 \| Brain abscess \| 2 HP:0001682 \| Subvalvular aortic stenosis \| 2 HP:0004415 \| Pulmonary artery stenosis \| 2 HP:0003546 \| Exercise intolerance \| 1 HP:0004937 \| Pulmonary artery aneurysm \| 1 HP:0001518 \| Small for gestational age \| 1 HP:0006689 \| Bacterial endocarditis \| 1 HP:0011566 \| Cor triatriatum dexter \| 1 HP:0002650 \| Scoliosis \| 1 HP:0100598 \| Pulmonary oedema \| 1 HP:0001669 \| Transposition of the great arteries \| 1 HP:0012383 \| Bidirectional shunt \| 1 HP:0012020 \| Right aortic arch \| 1 HP:0002666 \| Pheochromocytoma \| 1 HP:0001645 \| Sudden cardiac death \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0002668 \| Paragangliomas \| 1 HP:0001683 \| Ectopia cordis \| 1 HP:0004325 \| Low body weight \| 1 HP:0002089 \| Hypoplastic lungs \| 1 HP:0001657 \| Prolonged QT interval \| 1 HP:0001321 \| Small cerebellum \| 1 HP:0002097 \| Pulmonary emphysema \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0011100 \| Intestinal atresia \| 1 HP:0011641 \| Coronary artery fistula \| 1 HP:0012727 \| Thoracic aortic aneurysm \| 1 HP:0004942 \| Aortic aneurysm \| 1 HP:0000776 \| Diaphragmatic hernia \| 1 HP:0001724 \| Aortic dilatation \| 1 HP:0009730 \| Rhabdomyoma \| 1 HP:0012266 \| T-wave alternans \| 1 HP:0012032 \| Lipoma \| 1 HP:0005110 \| Atrial fibrillation \| 1 HP:0030242 \| Blood clot in portal vein \| 1 HP:0010448 \| Large intestinal atresia \| 1 HP:0000110 \| Renal dysplasia \| 1 HP:0011681 \| Subarterial ventricular septal defect \| 1 HP:0001789 \| Hydrops fetalis \| 1 HP:0200048 \| Cyanotic episode \| 1 HP:0000961 \| Cyanosis \| 1 HP:0005182 \| Bicuspid pulmonary valve \| 1 HP:0003974 \| Absent ossification/absence of radius \| 1 HP:0001719 \| Double-outlet right ventricle \| 1 HP:0001513 \| Obesity \| 1 HP:0009917 \| Persistent pupillary membrane \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0001667 \| Right ventricular hypertrophy \| 1 HP:0002777 \| Tracheal stenosis \| 1 HP:0004960 \| Absent pulmonary artery \| 1 HP:0002566 \| Intestinal malrotation \| 1 HP:0010316 \| Ebstein's anomaly of the tricuspid valve \| 1 HP:0005133 \| Right ventricular dilatation \| 1 HP:0002664 \| Neoplasia \| 1 HP:0001651 \| Thoracic situs inversus \| 1

Disease ID	172
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.)

Text Mining Genotype(Total 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:5)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001511	Intrauterine growth retardation	MP:0011109	lethality throughout fetal growth and development, incomplete penetrance	the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)
HP:0001636	Tetralogy of Fallot	MP:0011665	d-loop transposition of the great arteries	complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0004467	Preauricular pit	MP:0006306	abnormal nasal pit morphology	any structural anomaly of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the fronto-nasal process and divide it into a medial and two lateral nasal proces
HP:0004209	Clinodactyly of the 5th finger	MP:0011665	d-loop transposition of the great arteries	complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0005105	Abnormal nasal morphology	MP:0004726	abnormal nasal capsule morphology	any structural anomaly in the cartilage around the developing nasal cavity of the embryo

Mapped by homologous gene(Total Items:12)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001636	Tetralogy of Fallot	MP:0014117	increased pancreatic beta cell apoptosis	increase in the number of pancreatic beta cells undergoing programmed cell death
HP:0004209	Clinodactyly of the 5th finger	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000268	Dolichocephaly	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000520	Proptosis	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0005105	Abnormal nasal morphology	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000028	Cryptorchidism	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001511	Intrauterine growth retardation	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000337	Broad forehead	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000233	Thin vermilion border	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0004467	Preauricular pit	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001156	Brachydactyly syndrome	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0009891	Underdeveloped supraorbital ridges	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone

Disease ID	172
Disease	tetralogy of fallot
Case	(Waiting for update.)