PedAM

Pediatric Disease Annotations & Medicines


	heart septal defect

Disease ID	1350
Disease	heart septal defect
Definition	Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both.
Synonym	abnormality of the cardiac septa cardiac septal defect cardiac septal defects cardiac septal defects (disorder) congenital cardiac septal defect congenital cardiac septal defect, nos congenital defects septal congenital heart septum defect congenital septal defect congenital septal defect (morphologic abnormality) congenital septal defect of heart congenital septal defect of heart (disorder) congenital septal defect of heart, nos congenital septal defect, nos congenital septal defects defect heart septal defect septal defect, heart septal defects septal defects, heart septal heart septal defects heart septal defects [disease/finding] holes in the heart septal defect septal defect heart septal defect nos septal defect nos (disorder) septal defect, heart septal defects septal defects, heart septal heart defect
DOID	DOID:1681
UMLS	C0018816
MeSH	D006343
SNOMED-CT	SNOMEDCT_US_2016_09_01:253273004;SNOMEDCT_US_2016_09_01:59494005
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:9) NKX2-5 \| 1482 \| UniProtKB-KW PCSK5 \| 5125 \| CTD_human TBX20 \| 57057 \| UniProtKB-KW GATA6 \| 2627 \| UniProtKB-KW GATA4 \| 2626 \| UniProtKB-KW MYH6 \| 4624 \| UniProtKB-KW ACTC1 \| 70 \| UniProtKB-KW CITED2 \| 10370 \| CTD_human;UniProtKB-KW TLL1 \| 7092 \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 9421 \| HAND1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:429) 1856 \| DVL2 \| DISEASES 340533 \| KIAA2022 \| DISEASES 7092 \| TLL1 \| DISEASES 5351 \| PLOD1 \| DISEASES 6583 \| SLC22A4 \| DISEASES 8646 \| CHRD \| DISEASES 8216 \| LZTR1 \| DISEASES 4627 \| MYH9 \| DISEASES 57167 \| SALL4 \| DISEASES 10857 \| PGRMC1 \| DISEASES 10084 \| PQBP1 \| DISEASES 5327 \| PLAT \| DISEASES 27294 \| DHDH \| DISEASES 3696 \| ITGB8 \| DISEASES 3199 \| HOXA2 \| DISEASES 5054 \| SERPINE1 \| DISEASES 11101 \| ATE1 \| DISEASES 657 \| BMPR1A \| DISEASES 79176 \| FBXL15 \| DISEASES 116449 \| CLNK \| DISEASES 4633 \| MYL2 \| DISEASES 3670 \| ISL1 \| DISEASES 9421 \| HAND1 \| DISEASES 50805 \| IRX4 \| DISEASES 1653 \| DDX1 \| DISEASES 91754 \| NEK9 \| DISEASES 55640 \| FLVCR2 \| DISEASES 4488 \| MSX2 \| DISEASES 6909 \| TBX2 \| DISEASES 7291 \| TWIST1 \| DISEASES 10212 \| DDX39A \| DISEASES 6659 \| SOX4 \| DISEASES 652 \| BMP4 \| DISEASES 7389 \| UROD \| DISEASES 2657 \| GDF1 \| DISEASES 27245 \| AHDC1 \| DISEASES 5782 \| PTPN12 \| DISEASES 2006 \| ELN \| DISEASES 8468 \| FKBP6 \| DISEASES 9997 \| SCO2 \| DISEASES 7136 \| TNNI2 \| DISEASES 140628 \| GATA5 \| DISEASES 10343 \| PKDREJ \| DISEASES 2161 \| F12 \| DISEASES 56033 \| BARX1 \| DISEASES 2330 \| FMO5 \| DISEASES 5565 \| PRKAB2 \| DISEASES 6627 \| SNRPA1 \| DISEASES 182 \| JAG1 \| DISEASES 1401 \| CRP \| DISEASES 4622 \| MYH4 \| DISEASES 55333 \| SYNJ2BP \| DISEASES 9695 \| EDEM1 \| DISEASES 8728 \| ADAM19 \| DISEASES 6927 \| HNF1A \| DISEASES 6926 \| TBX3 \| DISEASES 3569 \| IL6 \| DISEASES 55997 \| CFC1 \| DISEASES 7111 \| TMOD1 \| DISEASES 9568 \| GABBR2 \| DISEASES 23314 \| SATB2 \| DISEASES 10060 \| ABCC9 \| DISEASES 7450 \| VWF \| DISEASES 3340 \| NDST1 \| DISEASES 10021 \| HCN4 \| DISEASES 6604 \| SMARCD3 \| DISEASES 3595 \| IL12RB2 \| DISEASES 9618 \| TRAF4 \| DISEASES 6521 \| SLC4A1 \| DISEASES 2294 \| FOXF1 \| DISEASES 27130 \| INVS \| DISEASES 2201 \| FBN2 \| DISEASES 10847 \| SRCAP \| DISEASES 27443 \| CECR2 \| DISEASES 25939 \| SAMHD1 \| DISEASES 10133 \| OPTN \| DISEASES 23293 \| SMG6 \| DISEASES 51586 \| MED15 \| DISEASES 7290 \| HIRA \| DISEASES 9424 \| KCNK6 \| DISEASES 4854 \| NOTCH3 \| DISEASES 50937 \| CDON \| DISEASES 90 \| ACVR1 \| DISEASES 3299 \| HSF4 \| DISEASES 2743 \| GLRB \| DISEASES 4552 \| MTRR \| DISEASES 2121 \| EVC \| DISEASES 55573 \| CDV3 \| DISEASES 64083 \| GOLPH3 \| DISEASES 23291 \| FBXW11 \| DISEASES 3371 \| TNC \| DISEASES 2028 \| ENPEP \| DISEASES 1950 \| EGF \| DISEASES 6722 \| SRF \| DISEASES 26229 \| B3GAT3 \| DISEASES 644 \| BLVRA \| DISEASES 5286 \| PIK3C2A \| DISEASES 7008 \| TEF \| DISEASES 51411 \| BIN2 \| DISEASES 8747 \| ADAM21 \| DISEASES 4123 \| MAN2C1 \| DISEASES 92579 \| G6PC3 \| DISEASES 2627 \| GATA6 \| DISEASES 4628 \| MYH10 \| DISEASES 9775 \| EIF4A3 \| DISEASES 5211 \| PFKL \| DISEASES 8547 \| FCN3 \| DISEASES 2702 \| GJA5 \| DISEASES 10637 \| LEFTY1 \| DISEASES 5972 \| REN \| DISEASES 55909 \| BIN3 \| DISEASES 4851 \| NOTCH1 \| DISEASES 138151 \| NACC2 \| DISEASES 7140 \| TNNT3 \| DISEASES 6911 \| TBX6 \| DISEASES 51594 \| NBAS \| DISEASES 23389 \| MED13L \| DISEASES 57724 \| EPG5 \| DISEASES 6695 \| SPOCK1 \| DISEASES 25836 \| NIPBL \| DISEASES 2697 \| GJA1 \| DISEASES 1360 \| CPB1 \| DISEASES 84910 \| TMEM87B \| DISEASES 10225 \| CD96 \| DISEASES 64795 \| RMND5A \| DISEASES 22934 \| RPIA \| DISEASES 223117 \| SEMA3D \| DISEASES 10750 \| GRAP \| DISEASES 4900 \| NRGN \| DISEASES 252969 \| NEIL2 \| DISEASES 760 \| CA2 \| DISEASES 23118 \| TAB2 \| DISEASES 4838 \| NODAL \| DISEASES 7547 \| ZIC3 \| DISEASES 23420 \| NOMO1 \| DISEASES 64768 \| IPPK \| DISEASES 26060 \| APPL1 \| DISEASES 673 \| BRAF \| DISEASES 90737 \| PAGE5 \| DISEASES 70 \| ACTC1 \| DISEASES 1636 \| ACE \| DISEASES 7471 \| WNT1 \| DISEASES 6159 \| RPL29 \| DISEASES 347730 \| LRRTM1 \| DISEASES 51072 \| MEMO1 \| DISEASES 27302 \| BMP10 \| DISEASES 23380 \| SRGAP2 \| DISEASES 213 \| ALB \| DISEASES 57619 \| SHROOM3 \| DISEASES 6997 \| TDGF1 \| DISEASES 54756 \| IL17RD \| DISEASES 8819 \| SAP30 \| DISEASES 94234 \| FOXQ1 \| DISEASES 79685 \| SAP30L \| DISEASES 6469 \| SHH \| DISEASES 25798 \| BRI3 \| DISEASES 55582 \| KIF27 \| DISEASES 9317 \| PTER \| DISEASES 27343 \| POLL \| DISEASES 8642 \| DCHS1 \| DISEASES 339302 \| CPLX4 \| DISEASES 55897 \| MESP1 \| DISEASES 1632 \| ECI1 \| DISEASES 83595 \| SOX7 \| DISEASES 5604 \| MAP2K1 \| DISEASES 3225 \| HOXC9 \| DISEASES 5308 \| PITX2 \| DISEASES 260434 \| PYDC1 \| DISEASES 6588 \| SLN \| DISEASES 5046 \| PCSK6 \| DISEASES 84342 \| COG8 \| DISEASES 10815 \| CPLX1 \| DISEASES 53407 \| STX18 \| DISEASES 4135 \| MAP6 \| DISEASES 3213 \| HOXB3 \| DISEASES 2147 \| F2 \| DISEASES 6573 \| SLC19A1 \| DISEASES 5340 \| PLG \| DISEASES 4034 \| LRCH4 \| DISEASES 285590 \| SH3PXD2B \| DISEASES 171389 \| NLRP6 \| DISEASES 6169 \| RPL38 \| DISEASES 3265 \| HRAS \| DISEASES 6910 \| TBX5 \| DISEASES 9975 \| NR1D2 \| DISEASES 9743 \| ARHGAP32 \| DISEASES 8425 \| LTBP4 \| DISEASES 6396 \| SEC13 \| DISEASES 8557 \| TCAP \| DISEASES 4281 \| MID1 \| DISEASES 55218 \| EXD2 \| DISEASES 11149 \| BVES \| DISEASES 23047 \| PDS5B \| DISEASES 11238 \| CA5B \| DISEASES 340260 \| UNCX \| DISEASES 57633 \| LRRN1 \| DISEASES 1857 \| DVL3 \| DISEASES 80010 \| RMI1 \| DISEASES 400224 \| PLEKHD1 \| DISEASES 196500 \| PIANP \| DISEASES 339122 \| RAB43 \| DISEASES 137814 \| NKX2-6 \| DISEASES 2146 \| EZH2 \| DISEASES 2253 \| FGF8 \| DISEASES 78987 \| CRELD1 \| DISEASES 10743 \| RAI1 \| DISEASES 491 \| ATP2B2 \| DISEASES 84260 \| TCHP \| DISEASES 2200 \| FBN1 \| DISEASES 9919 \| SEC16A \| DISEASES 255520 \| ELMOD2 \| DISEASES 1482 \| NKX2-5 \| DISEASES 4772 \| NFATC1 \| DISEASES 10572 \| SIVA1 \| DISEASES 752 \| FMNL1 \| DISEASES 4496 \| MT1H \| DISEASES 8701 \| DNAH11 \| DISEASES 9146 \| HGS \| DISEASES 340061 \| TMEM173 \| DISEASES 54584 \| GNB1L \| DISEASES 6899 \| TBX1 \| DISEASES 2049 \| EPHB3 \| DISEASES 54101 \| RIPK4 \| DISEASES 10052 \| GJC1 \| DISEASES 51807 \| TUBA8 \| DISEASES 348235 \| SKA2 \| DISEASES 2152 \| F3 \| DISEASES 2626 \| GATA4 \| DISEASES 196528 \| ARID2 \| DISEASES 92335 \| STRADA \| DISEASES 55334 \| SLC39A9 \| DISEASES 51339 \| DACT1 \| DISEASES 6622 \| SNCA \| DISEASES 51337 \| THEM6 \| DISEASES 57496 \| MKL2 \| DISEASES 3266 \| ERAS \| DISEASES 4208 \| MEF2C \| DISEASES 5781 \| PTPN11 \| DISEASES 8816 \| DCAF5 \| DISEASES 7137 \| TNNI3 \| DISEASES 132884 \| EVC2 \| DISEASES 259307 \| IL4I1 \| DISEASES 165904 \| XIRP1 \| DISEASES 7273 \| TTN \| DISEASES 26053 \| AUTS2 \| DISEASES 390259 \| BSX \| DISEASES 3767 \| KCNJ11 \| DISEASES 1399 \| CRKL \| DISEASES 4205 \| MEF2A \| DISEASES 133584 \| EGFLAM \| DISEASES 26033 \| ATRNL1 \| DISEASES 4625 \| MYH7 \| DISEASES 1717 \| DHCR7 \| DISEASES 3240 \| HP \| DISEASES 55544 \| RBM38 \| DISEASES 4624 \| MYH6 \| DISEASES 7625 \| ZNF74 \| DISEASES 23513 \| SCRIB \| DISEASES 8940 \| TOP3B \| DISEASES 57594 \| HOMEZ \| DISEASES 1121 \| CHM \| DISEASES 54097 \| FAM3B \| DISEASES 6714 \| SRC \| DISEASES 1969 \| EPHA2 \| DISEASES 404552 \| SCGB1D4 \| DISEASES 7048 \| TGFBR2 \| DISEASES 23607 \| CD2AP \| DISEASES 9464 \| HAND2 \| DISEASES 147409 \| DSG4 \| DISEASES 2157 \| F8 \| DISEASES 6238 \| RRBP1 \| DISEASES 9782 \| MATR3 \| DISEASES 23139 \| MAST2 \| DISEASES 2882 \| GPX7 \| DISEASES 54510 \| PCDH18 \| DISEASES 56853 \| CELF4 \| DISEASES 64093 \| SMOC1 \| DISEASES 9851 \| KIAA0753 \| DISEASES 81706 \| PPP1R14C \| DISEASES 192683 \| SCAMP5 \| DISEASES 7044 \| LEFTY2 \| DISEASES 3142 \| HLX \| DISEASES 5362 \| PLXNA2 \| DISEASES 7139 \| TNNT2 \| DISEASES 10370 \| CITED2 \| DISEASES 462 \| SERPINC1 \| DISEASES 2153 \| F5 \| DISEASES 57216 \| VANGL2 \| DISEASES 844 \| CASQ1 \| DISEASES 23493 \| HEY2 \| DISEASES 55974 \| SLC50A1 \| DISEASES 10654 \| PMVK \| DISEASES 1892 \| ECHS1 \| DISEASES 23557 \| SNAPIN \| DISEASES 51205 \| ACP6 \| DISEASES 6885 \| MAP3K7 \| DISEASES 8036 \| SHOC2 \| DISEASES 257 \| ALX3 \| DISEASES 139135 \| PASD1 \| DISEASES 55788 \| LMBRD1 \| DISEASES 1486 \| CTBS \| DISEASES 10479 \| SLC9A6 \| DISEASES 56180 \| MOSPD1 \| DISEASES 653 \| BMP5 \| DISEASES 51013 \| EXOSC1 \| DISEASES 27022 \| FOXD3 \| DISEASES 26027 \| ACOT11 \| DISEASES 54558 \| SPATA6 \| DISEASES 9670 \| IPO13 \| DISEASES 6789 \| STK4 \| DISEASES 9469 \| CHST3 \| DISEASES 55315 \| SLC29A3 \| DISEASES 50945 \| TBX22 \| DISEASES 5090 \| PBX3 \| DISEASES 2170 \| FABP3 \| DISEASES 84890 \| ADO \| DISEASES 80114 \| BICC1 \| DISEASES 1955 \| MEGF9 \| DISEASES 659 \| BMPR2 \| DISEASES 55906 \| ZC4H2 \| DISEASES 1889 \| ECE1 \| DISEASES 27301 \| APEX2 \| DISEASES 7046 \| TGFBR1 \| DISEASES 4855 \| NOTCH4 \| DISEASES 63940 \| GPSM3 \| DISEASES 5089 \| PBX2 \| DISEASES 4686 \| NCBP1 \| DISEASES 80067 \| DCAF17 \| DISEASES 64061 \| TSPYL2 \| DISEASES 2155 \| F7 \| DISEASES 4920 \| ROR2 \| DISEASES 3055 \| HCK \| DISEASES 4879 \| NPPB \| DISEASES 4878 \| NPPA \| DISEASES 256297 \| PTF1A \| DISEASES 4524 \| MTHFR \| DISEASES 54897 \| CASZ1 \| DISEASES 10529 \| NEBL \| DISEASES 8928 \| FOXH1 \| DISEASES 54206 \| ERRFI1 \| DISEASES 8241 \| RBM10 \| DISEASES 285641 \| SLC36A3 \| DISEASES 56287 \| GKN1 \| DISEASES 26586 \| CKAP2 \| DISEASES 54880 \| BCOR \| DISEASES 134549 \| SHROOM1 \| DISEASES 1855 \| DVL1 \| DISEASES 221662 \| RBM24 \| DISEASES 1906 \| EDN1 \| DISEASES 7010 \| TEK \| DISEASES 3150 \| HMGN1 \| DISEASES 56897 \| WRNIP1 \| DISEASES 2296 \| FOXC1 \| DISEASES 414 \| ARSD \| DISEASES 6547 \| SLC8A3 \| DISEASES 613209 \| DEFB135 \| DISEASES 4487 \| MSX1 \| DISEASES 51244 \| CCDC174 \| DISEASES 9901 \| SRGAP3 \| DISEASES 79400 \| NOX5 \| DISEASES 94 \| ACVRL1 \| DISEASES 6468 \| FBXW4 \| DISEASES 7247 \| TSN \| DISEASES 6833 \| ABCC8 \| DISEASES 51241 \| COX16 \| DISEASES 727857 \| BHLHA9 \| DISEASES 5077 \| PAX3 \| DISEASES 54903 \| MKS1 \| DISEASES 145270 \| PRIMA1 \| DISEASES 5361 \| PLXNA1 \| DISEASES 26269 \| FBXO8 \| DISEASES 92181 \| UBTD2 \| DISEASES 347734 \| SLC35B2 \| DISEASES 7026 \| NR2F2 \| DISEASES 2719 \| GPC3 \| DISEASES 6430 \| SRSF5 \| DISEASES 87 \| ACTN1 \| DISEASES 2737 \| GLI3 \| DISEASES 152330 \| CNTN4 \| DISEASES 54826 \| GIN1 \| DISEASES 22995 \| CEP152 \| DISEASES 26960 \| NBEA \| DISEASES 1826 \| DSCAM \| DISEASES 81669 \| CCNL2 \| DISEASES 79174 \| CRELD2 \| DISEASES 2199 \| FBLN2 \| DISEASES 23414 \| ZFPM2 \| DISEASES 6654 \| SOS1 \| DISEASES 25777 \| SUN2 \| DISEASES 57057 \| TBX20 \| DISEASES 151 \| ADRA2B \| DISEASES 55252 \| ASXL2 \| DISEASES 55636 \| CHD7 \| DISEASES 5005 \| ORM2 \| DISEASES 64324 \| NSD1 \| DISEASES 9569 \| GTF2IRD1 \| DISEASES 7124 \| TNF \| DISEASES 2081 \| ERN1 \| DISEASES 93649 \| MYOCD \| DISEASES 5817 \| PVR \| DISEASES 79827 \| CLMP \| DISEASES 8318 \| CDC45 \| DISEASES 9742 \| IFT140 \| DISEASES 3586 \| IL10 \| DISEASES 339487 \| ZBTB8OS \| DISEASES 79813 \| EHMT1 \| DISEASES 1496 \| CTNNA2 \| DISEASES 346171 \| ZFP57 \| DISEASES 64901 \| RANBP17 \| DISEASES 253970 \| SFTA3 \| DISEASES 55845 \| BRK1 \| DISEASES 22827 \| PUF60 \| DISEASES 613211 \| DEFB134 \| DISEASES 9973 \| CCS \| DISEASES 65055 \| REEP1 \| DISEASES 4857 \| NOVA1 \| DISEASES 8615 \| USO1 \| DISEASES 8218 \| CLTCL1 \| DISEASES 3987 \| LIMS1 \| DISEASES 4522 \| MTHFD1 \| DISEASES 2079 \| ERH \| DISEASES 4212 \| MEIS2 \| DISEASES 7138 \| TNNT1 \| DISEASES 101927075 \| FGF10-AS1 \| DISEASES 102723508 \| KANTR \| DISEASES 10408 \| MYCNOS \| DISEASES 104326058 \| SMAD1-AS1 \| DISEASES 9298 \| SNORD31 \| DISEASES 692199 \| SNORD84 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1350
Disease	heart septal defect
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1350
Disease	heart septal defect
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:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1045642	23874772	5243	ABCB1	umls:C0018816	BeFree	The C3435T polymorphism in the ABCB1 gene of fetus increases the risks of CHD in a Han Chinese population when the mothers are exposed to phthalates and alkylphenolic compounds during the periconceptional period, particularly for septal defects.	0.000542884	2013	ABCB1	7	87509329	A	T,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:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0018816	tolmetin	D014046	26171-23-3	heart septal defects	MESH:D006343	marker/mechanism	15505808

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

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

Web
Analytics