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PedAM

Pediatric Disease Annotations & Medicines



   atrioventricular septal defect
  

Disease ID 767
Disease atrioventricular septal defect
Definition
A defect of the atrioventricular septum of the heart. [HPO:probinson, pmid:12632326]
Synonym
atrioventricular canal defect
avc defect
avcd
Orphanet
OMIM
DOID
ICD10
UMLS
C1389016
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:5)
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
AVSD1  |  7446  |  OMIM
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:134)
340533  |  KIAA2022  |  DISEASES
8646  |  CHRD  |  DISEASES
8216  |  LZTR1  |  DISEASES
2222  |  FDFT1  |  DISEASES
11101  |  ATE1  |  DISEASES
657  |  BMPR1A  |  DISEASES
79176  |  FBXL15  |  DISEASES
3670  |  ISL1  |  DISEASES
7035  |  TFPI  |  DISEASES
374291  |  NDUFS7  |  DISEASES
607  |  BCL9  |  DISEASES
583  |  BBS2  |  DISEASES
8195  |  MKKS  |  DISEASES
2657  |  GDF1  |  DISEASES
2006  |  ELN  |  DISEASES
8468  |  FKBP6  |  DISEASES
140628  |  GATA5  |  DISEASES
2330  |  FMO5  |  DISEASES
5565  |  PRKAB2  |  DISEASES
4853  |  NOTCH2  |  DISEASES
55997  |  CFC1  |  DISEASES
3595  |  IL12RB2  |  DISEASES
2294  |  FOXF1  |  DISEASES
10847  |  SRCAP  |  DISEASES
23293  |  SMG6  |  DISEASES
51586  |  MED15  |  DISEASES
4552  |  MTRR  |  DISEASES
2121  |  EVC  |  DISEASES
1462  |  VCAN  |  DISEASES
3371  |  TNC  |  DISEASES
51176  |  LEF1  |  DISEASES
1950  |  EGF  |  DISEASES
644  |  BLVRA  |  DISEASES
3394  |  IRF8  |  DISEASES
2627  |  GATA6  |  DISEASES
2702  |  GJA5  |  DISEASES
4851  |  NOTCH1  |  DISEASES
25836  |  NIPBL  |  DISEASES
22934  |  RPIA  |  DISEASES
252969  |  NEIL2  |  DISEASES
760  |  CA2  |  DISEASES
7547  |  ZIC3  |  DISEASES
7079  |  TIMP4  |  DISEASES
3763  |  KCNJ6  |  DISEASES
8566  |  PDXK  |  DISEASES
2487  |  FRZB  |  DISEASES
23380  |  SRGAP2  |  DISEASES
6469  |  SHH  |  DISEASES
9317  |  PTER  |  DISEASES
8642  |  DCHS1  |  DISEASES
89927  |  C16orf45  |  DISEASES
1292  |  COL6A2  |  DISEASES
83595  |  SOX7  |  DISEASES
8313  |  AXIN2  |  DISEASES
5308  |  PITX2  |  DISEASES
3708  |  ITPR1  |  DISEASES
6573  |  SLC19A1  |  DISEASES
4034  |  LRCH4  |  DISEASES
6910  |  TBX5  |  DISEASES
9975  |  NR1D2  |  DISEASES
6396  |  SEC13  |  DISEASES
11238  |  CA5B  |  DISEASES
57633  |  LRRN1  |  DISEASES
64388  |  GREM2  |  DISEASES
27086  |  FOXP1  |  DISEASES
137814  |  NKX2-6  |  DISEASES
10938  |  EHD1  |  DISEASES
78987  |  CRELD1  |  DISEASES
491  |  ATP2B2  |  DISEASES
84260  |  TCHP  |  DISEASES
1482  |  NKX2-5  |  DISEASES
4772  |  NFATC1  |  DISEASES
8701  |  DNAH11  |  DISEASES
340061  |  TMEM173  |  DISEASES
6899  |  TBX1  |  DISEASES
54101  |  RIPK4  |  DISEASES
10052  |  GJC1  |  DISEASES
2626  |  GATA4  |  DISEASES
3266  |  ERAS  |  DISEASES
5781  |  PTPN11  |  DISEASES
132884  |  EVC2  |  DISEASES
26053  |  AUTS2  |  DISEASES
1399  |  CRKL  |  DISEASES
1717  |  DHCR7  |  DISEASES
4624  |  MYH6  |  DISEASES
7625  |  ZNF74  |  DISEASES
23513  |  SCRIB  |  DISEASES
54097  |  FAM3B  |  DISEASES
6261  |  RYR1  |  DISEASES
1291  |  COL6A1  |  DISEASES
4548  |  MTR  |  DISEASES
7044  |  LEFTY2  |  DISEASES
4194  |  MDM4  |  DISEASES
10370  |  CITED2  |  DISEASES
23493  |  HEY2  |  DISEASES
10654  |  PMVK  |  DISEASES
51205  |  ACP6  |  DISEASES
9557  |  CHD1L  |  DISEASES
26227  |  PHGDH  |  DISEASES
8036  |  SHOC2  |  DISEASES
10479  |  SLC9A6  |  DISEASES
10919  |  EHMT2  |  DISEASES
3055  |  HCK  |  DISEASES
54880  |  BCOR  |  DISEASES
3980  |  LIG3  |  DISEASES
1906  |  EDN1  |  DISEASES
613209  |  DEFB135  |  DISEASES
9901  |  SRGAP3  |  DISEASES
54903  |  MKS1  |  DISEASES
7021  |  TFAP2B  |  DISEASES
347734  |  SLC35B2  |  DISEASES
7026  |  NR2F2  |  DISEASES
152330  |  CNTN4  |  DISEASES
1859  |  DYRK1A  |  DISEASES
54826  |  GIN1  |  DISEASES
22995  |  CEP152  |  DISEASES
1826  |  DSCAM  |  DISEASES
79174  |  CRELD2  |  DISEASES
2199  |  FBLN2  |  DISEASES
23414  |  ZFPM2  |  DISEASES
6654  |  SOS1  |  DISEASES
57057  |  TBX20  |  DISEASES
55636  |  CHD7  |  DISEASES
64324  |  NSD1  |  DISEASES
9569  |  GTF2IRD1  |  DISEASES
3491  |  CYR61  |  DISEASES
5795  |  PTPRJ  |  DISEASES
9742  |  IFT140  |  DISEASES
79813  |  EHMT1  |  DISEASES
22827  |  PUF60  |  DISEASES
613211  |  DEFB134  |  DISEASES
8218  |  CLTCL1  |  DISEASES
3987  |  LIMS1  |  DISEASES
9298  |  SNORD31  |  DISEASES
Locus(Waiting for update.)
Disease ID 767
Disease atrioventricular septal defect
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:6)
HP:0011622  |  Inlet ventricular septal defect
HP:0010445  |  Septum primum defect
HP:0000961  |  Cyanosis
HP:0001635  |  Congestive heart failure
HP:0002092  |  Pulmonary artery hypertension
HP:0011705  |  First degree atrioventricular block
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:14)
Disease ID 767
Disease atrioventricular 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:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)