atrial septal defects |
Disease ID | 1315 |
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Disease | atrial septal defects |
Definition | Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects. |
Synonym | asd - atrial septal defect atria septal defect atria septal defect (asd) atrial septal defect atrial septal defect (asd) atrial septal defect (disorder) atrial septal defect nos atrial septal defect nos (disorder) atrial septal heart defect atrial septal heart defects atrial septum defect atrioseptal defect auricular septal defect nos auricular septal defect nos (disorder) congenital atrial septal defect congenital atrial septal defect (disorder) defect artrial septum defect in the atrial septum defect, atrial septal defects, atrial septal heart septal defect atrial heart septal defects, atrial heart septal defects, atrial [disease/finding] ia septal defect interatrial septal defect interauricular septal defect interauricular septal defect (disorder) septal defect interatrial septal defect, atrial septal defects, atrial |
Orphanet | |
DOID | |
ICD10 | |
UMLS | C0018817 |
MeSH | |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:48) C0020538 | hypertension | 20 C0020542 | pulmonary hypertension | 12 C1619734 | pulmonary arterial hypertension | 11 C0026269 | mitral stenosis | 4 C0018818 | ventricular septal defect | 4 C0018799 | heart disease | 3 C0152021 | congenital heart disease | 3 C0034089 | pulmonary valve stenosis | 3 C0149931 | migraine | 2 C0040053 | thrombosis | 2 C0040961 | tricuspid regurgitation | 2 C0018801 | heart failure | 2 C1956257 | pulmonary stenosis | 2 C0011847 | diabetes | 2 C0878544 | cardiomyopathy | 2 C0014118 | endocarditis | 2 C1142166 | brugada syndrome | 1 C0020255 | hydrocephalus | 1 C0265237 | blepharophimosis syndrome | 1 C0152966 | pneumococcal septicaemia | 1 C0031046 | pericarditis | 1 C0028326 | noonan syndrome | 1 C0031048 | constrictive pericarditis | 1 C0007194 | hypertrophic cardiomyopathy | 1 C0026266 | mitral regurgitation | 1 C0014121 | bacterial endocarditis | 1 C0014121 | infective endocarditis | 1 C0018816 | septal defects | 1 C0005744 | blepharophimosis | 1 C0040053 | thrombus | 1 C0024164 | lutembacher syndrome | 1 C0007193 | dilated cardiomyopathy | 1 C0004245 | atrioventricular block | 1 C0264766 | rheumatic mitral stenosis | 1 C0265264 | holt-oram syndrome | 1 C0013069 | double outlet right ventricle | 1 C0034065 | pulmonary embolism | 1 C0003507 | aortic stenosis | 1 C0013080 | trisomy 21 | 1 C1527336 | sjogren's syndrome | 1 C0432443 | 18q deletion syndrome | 1 C0024236 | lymphoedema | 1 C0007787 | transient ischemic attack | 1 C0014850 | esophageal atresia | 1 C0153500 | heart ca | 1 C0349788 | arrhythmogenic right ventricular cardiomyopathy | 1 C0003486 | aortic aneurysm | 1 C0018799 | heart diseases | 1 |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | (Waiting for update.) |
Locus | (Waiting for update.) |
Disease ID | 1315 |
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Disease | atrial septal defects |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:23) C0020542 | pulmonary hypertension | 12 C1619734 | pulmonary arterial hypertension | 11 C0009814 | stenosis | 8 C0002940 | aneurysm | 8 C0232197 | fibrillation | 7 C0016169 | fistula | 4 C0013922 | embolism | 4 C0521533 | atrial septal aneurysm | 3 C0232605 | regurgitation | 2 C0018801 | heart failure | 2 C1956257 | pulmonary stenosis | 2 C0040961 | tricuspid regurgitation | 1 C0006105 | brain abscess | 1 C0014121 | bacterial endocarditis | 1 C0151517 | complete atrioventricular block | 1 C0007194 | hypertrophic cardiomyopathy | 1 C0039231 | tachycardia | 1 C0034065 | pulmonary embolism | 1 C0023212 | left ventricular failure | 1 C0427008 | stiffness | 1 C0028326 | noonan syndrome | 1 C0010520 | cyanosis | 1 C0026266 | mitral regurgitation | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:42) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs10951154 | 22359339 | 3198 | HOXA1 | umls:C0018817 | BeFree | In line with this notion, a nonsynonymous single nucleotide polymorphism within a highly conserved domain of HOXA1--A218G (rs10951154)--has been linked to both ASD risk, and cross-sectional differences in superior posterior lobar cerebellar anatomy in late adulthood. | 0.000542884 | 2012 | HOXA1;HOTAIRM1 | 7 | 27095695 | C | T |
rs121917893 | 21364653 | 54413 | NLGN3 | umls:C0018817 | BeFree | Both mutated CADM1 and neuroligin 3(R451C) induced upregulation of C/EBP-homologous protein (CHOP), an ER stress marker, suggesting that in addition to the trafficking impairment, this CHOP upregulation may also be involved in ASD pathogenesis. | 0.000814326 | 2010 | NLGN3 | X | 71167508 | C | T |
rs121917893 | 21364653 | 23705 | CADM1 | umls:C0018817 | BeFree | Both mutated CADM1 and neuroligin 3(R451C) induced upregulation of C/EBP-homologous protein (CHOP), an ER stress marker, suggesting that in addition to the trafficking impairment, this CHOP upregulation may also be involved in ASD pathogenesis. | 0.000814326 | 2010 | NLGN3 | X | 71167508 | C | T |
rs121917893 | 21364653 | 1649 | DDIT3 | umls:C0018817 | BeFree | Both mutated CADM1 and neuroligin 3(R451C) induced upregulation of C/EBP-homologous protein (CHOP), an ER stress marker, suggesting that in addition to the trafficking impairment, this CHOP upregulation may also be involved in ASD pathogenesis. | 0.000271442 | 2010 | NLGN3 | X | 71167508 | C | T |
rs12498533 | 24818597 | 2332 | FMR1 | umls:C0018817 | BeFree | The predicted impact on transcription through the ASD associated EIF4E variants rs4699369T and rs12498533G as well as the association of the EIF4E interaction partners FMRP and CYFIP1 with ASD point to an mRNA mediated pathomechanism for ASD. | 0.003257302 | 2014 | EIF4E | 4 | 98897682 | A | C |
rs12498533 | 24818597 | 1977 | EIF4E | umls:C0018817 | BeFree | The predicted impact on transcription through the ASD associated EIF4E variants rs4699369T and rs12498533G as well as the association of the EIF4E interaction partners FMRP and CYFIP1 with ASD point to an mRNA mediated pathomechanism for ASD. | 0.000542884 | 2014 | EIF4E | 4 | 98897682 | A | C |
rs12498533 | 24818597 | 23191 | CYFIP1 | umls:C0018817 | BeFree | The predicted impact on transcription through the ASD associated EIF4E variants rs4699369T and rs12498533G as well as the association of the EIF4E interaction partners FMRP and CYFIP1 with ASD point to an mRNA mediated pathomechanism for ASD. | 0.000542884 | 2014 | EIF4E | 4 | 98897682 | A | C |
rs13000344 | 21750575 | 5013 | OTX1 | umls:C0018817 | BeFree | Similarly, in OTX1, rs2018650 and rs13000344 were associated with autism in ASD-CARC cohorts (P(FDR)=8.65 × 10(-7) and 6.07 × 10(5), respectively), AGRE cohort (P(FDR)=0.0034 and 0.015, respectively) and the combined families (P(FDR)=2.34 × 10(-9) and 0.00017, respectively); associations were marginal or insignificant in the New York and SIRFA cohorts. | 0.000271442 | 2011 | NA | 2 | 63062599 | T | G |
rs147405081 | 18706711 | 6910 | TBX5 | umls:C0018817 | BeFree | A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly. | 0.001357209 | 2008 | TBX5 | 12 | 114366360 | C | T |
rs150528041 | 24752249 | 783 | CACNB2 | umls:C0018817 | BeFree | Here, we present three rare missense mutations of CACNB2 (G167S, S197F, and F240L) found in ASD-affected families, two of them described here for the first time (G167S and F240L). | 0.000271442 | 2014 | CACNB2 | 10 | 18500945 | C | T |
rs167771 | 22397633 | 1814 | DRD3 | umls:C0018817 | BeFree | However, the rs167771 marker in DRD3, associated with ASD in a previous study, displayed a nominal association in our analysis (P = 0.023). | 0.001357209 | 2014 | DRD3 | 3 | 114157428 | G | A |
rs1858830 | 24150225 | 4204 | MECP2 | umls:C0018817 | BeFree | MeCP2 binds to a region of the MET promoter containing the ASD-risk SNV, and displays rs1858830 genotype-specific binding in human neural progenitor cells derived from the olfactory neuroepithelium. | 0.001628651 | 2013 | MET | 7 | 116672385 | C | G |
rs1858830 | 19360663 | 8731 | RNMT | umls:C0018817 | BeFree | Replicating our initial findings, family-based association test (FBAT) analyses demonstrated that the MET promoter variant rs1858830 C allele was associated with ASD in 101 new families (P=0.033). | 0.002171535 | 2008 | MET | 7 | 116672385 | C | G |
rs2018650 | 21750575 | 5013 | OTX1 | umls:C0018817 | BeFree | Similarly, in OTX1, rs2018650 and rs13000344 were associated with autism in ASD-CARC cohorts (P(FDR)=8.65 × 10(-7) and 6.07 × 10(5), respectively), AGRE cohort (P(FDR)=0.0034 and 0.015, respectively) and the combined families (P(FDR)=2.34 × 10(-9) and 0.00017, respectively); associations were marginal or insignificant in the New York and SIRFA cohorts. | 0.000271442 | 2011 | EHBP1;LOC100132215 | 2 | 63045589 | T | C |
rs2056202 | 17894412 | 8604 | SLC25A12 | umls:C0018817 | BeFree | Evidence for a genetic association between autism and two single nucleotide polymorphisms (SNPs), rs2056202 and rs2292813, in the mitochondrial aspartate/glutamate carrier (SLC25A12) gene led us to ask whether any of the four previously identified familial traits in autism spectrum disorders (ASD) varied by these SNPs. | 0.000814326 | 2008 | SLC25A12 | 2 | 171855970 | T | C |
rs2056202 | 25921325 | 8604 | SLC25A12 | umls:C0018817 | BeFree | Our meta-analysis suggests that rs2056202 and rs2292813 in SLC25A12 may contribute significantly to ASD risk. | 0.000814326 | 2015 | SLC25A12 | 2 | 171855970 | T | C |
rs2228638 | 24594544 | 4745 | NELL1 | umls:C0018817 | 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 |
rs2292813 | 17894412 | 8604 | SLC25A12 | umls:C0018817 | BeFree | Evidence for a genetic association between autism and two single nucleotide polymorphisms (SNPs), rs2056202 and rs2292813, in the mitochondrial aspartate/glutamate carrier (SLC25A12) gene led us to ask whether any of the four previously identified familial traits in autism spectrum disorders (ASD) varied by these SNPs. | 0.000814326 | 2008 | SLC25A12;LOC105373738 | 2 | 171787719 | T | C |
rs2292813 | 25921325 | 8604 | SLC25A12 | umls:C0018817 | BeFree | Our meta-analysis suggests that rs2056202 and rs2292813 in SLC25A12 may contribute significantly to ASD risk. | 0.000814326 | 2015 | SLC25A12;LOC105373738 | 2 | 171787719 | T | C |
rs25531 | 23123360 | 6532 | SLC6A4 | umls:C0018817 | BeFree | The 5-HTTLPR/rs25531 polymorphism or its correlates may modulate severity of ADHD and ASD symptoms in children with ASD, but in different ways. | 0.002714419 | 2013 | SLC6A4;LOC105371720 | 17 | 30237328 | T | C |
rs28364997 | 25331903 | 6531 | SLC6A3 | umls:C0018817 | BeFree | Recently, we identified a rare, nonsynonymous Slc6a3 variant that produces the DAT substitution Ala559Val in two male siblings who share a diagnosis of attention-deficit hyperactivity disorder (ADHD), with other studies identifying the variant in subjects with bipolar disorder (BPD) and autism spectrum disorder (ASD). | 0.000814326 | 2015 | SLC6A3 | 5 | 1403013 | G | A |
rs2857766 | 21084121 | 3105 | HLA-A | umls:C0018817 | BeFree | Polymorphism haplotype analysis demonstrated that two haplotypes comprising the TNF-238(G)-TNF-308(G)-MIB*332-HLA-B*38-HLA-Cw*12 and the D6S265*218-HLA-A*23-MOGc*131-rs2857766(G) alleles are more frequently transmitted to ASD. | 0.000271442 | 2011 | MOG | 6 | 29666226 | G | C |
rs2857766 | 21084121 | 3106 | HLA-B | umls:C0018817 | BeFree | Polymorphism haplotype analysis demonstrated that two haplotypes comprising the TNF-238(G)-TNF-308(G)-MIB*332-HLA-B*38-HLA-Cw*12 and the D6S265*218-HLA-A*23-MOGc*131-rs2857766(G) alleles are more frequently transmitted to ASD. | 0.000271442 | 2011 | MOG | 6 | 29666226 | G | C |
rs2857766 | 21084121 | 7124 | TNF | umls:C0018817 | BeFree | Polymorphism haplotype analysis demonstrated that two haplotypes comprising the TNF-238(G)-TNF-308(G)-MIB*332-HLA-B*38-HLA-Cw*12 and the D6S265*218-HLA-A*23-MOGc*131-rs2857766(G) alleles are more frequently transmitted to ASD. | 0.000542884 | 2011 | MOG | 6 | 29666226 | G | C |
rs344781 | 19360663 | 5329 | PLAUR | umls:C0018817 | BeFree | In addition, the PLAUR promoter variant rs344781 T allele was associated with ASD by both FBAT (P=0.006) and case-control analyses (P=0.007). | 0.000271442 | 2008 | PLAUR | 19 | 43670636 | C | T |
rs35753505 | 25858800 | 3084 | NRG1 | umls:C0018817 | BeFree | To determine the genetic association between qualitative and quantitative traits of autism spectrum disorder (ASD) and neuregulin 1 (NRG1)-a schizophrenia candidate gene-we examined six single nucleotide polymorphisms (SNPs) in NRG1 using a family-based association test (FBAT) in Korean families with ASD. rs35753505 and rs6994992 SNPs in NRG1 revealed a statistically significant family-based association with three quantitative traits for sociality. | 0.000542884 | 2015 | NA | 8 | 31616625 | T | C |
rs362691 | 24453138 | 79017 | GGCT | umls:C0018817 | BeFree | Our meta-analysis revealed that the RELN rs362691, rather than rs736707 or GGC repeat variant, might contribute significantly to ASD risk. | 0.000271442 | 2013 | RELN | 7 | 103610714 | G | A,C |
rs375832594 | 24752249 | 783 | CACNB2 | umls:C0018817 | BeFree | Here, we present three rare missense mutations of CACNB2 (G167S, S197F, and F240L) found in ASD-affected families, two of them described here for the first time (G167S and F240L). | 0.000271442 | 2014 | CACNB2;LOC105376439 | 10 | 18514299 | C | T |
rs387906772 | 20347099 | 26227 | PHGDH | umls:C0018817 | BeFree | We identified a novel M310V mutation in GATA4 gene that is located in the NLS region and leads to hereditary ASD in a Chinese family. | 0.000271442 | 2010 | GATA4 | 8 | 11755064 | A | G |
rs4446909 | 23349736 | 438 | ASMT | umls:C0018817 | BeFree | A previous study reported an association between ASD and single nucleotide polymorphisms (SNPs) rs4446909 and rs5989681 located in the promoter of ASMT. | 0.000814326 | 2013 | ASMT | Y;X | 1614890;1614890 | G | A |
rs4680 | 20868372 | 6532 | SLC6A4 | umls:C0018817 | BeFree | We studied the association of the catechol O-methyltransferase (COMT) Val158Met polymorphism and the serotonin transporter (SLC6A4/SERT/5-HTT) 5-HTTLPR insertion/deletion polymorphism with ASD symptoms in children with ADHD, and whether these polymorphisms would interact with pre- and perinatal risk factors, i.e., maternal smoking during pregnancy and low birth weight. | 0.002714419 | 2010 | COMT;MIR4761 | 22 | 19963748 | G | A |
rs4680 | 23613504 | 1312 | COMT | umls:C0018817 | BeFree | The COMT gene Val158Met polymorphism may be a biomarker for phenotypic variation in ASD, but these preliminary findings remain tentative, pending replication in larger, independent samples. | 0.001085767 | 2013 | COMT;MIR4761 | 22 | 19963748 | G | A |
rs4699369 | 24818597 | 1977 | EIF4E | umls:C0018817 | BeFree | The predicted impact on transcription through the ASD associated EIF4E variants rs4699369T and rs12498533G as well as the association of the EIF4E interaction partners FMRP and CYFIP1 with ASD point to an mRNA mediated pathomechanism for ASD. | 0.000542884 | 2014 | EIF4E | 4 | 98888271 | G | A |
rs4699369 | 24818597 | 2332 | FMR1 | umls:C0018817 | BeFree | The predicted impact on transcription through the ASD associated EIF4E variants rs4699369T and rs12498533G as well as the association of the EIF4E interaction partners FMRP and CYFIP1 with ASD point to an mRNA mediated pathomechanism for ASD. | 0.003257302 | 2014 | EIF4E | 4 | 98888271 | G | A |
rs4699369 | 24818597 | 23191 | CYFIP1 | umls:C0018817 | BeFree | The predicted impact on transcription through the ASD associated EIF4E variants rs4699369T and rs12498533G as well as the association of the EIF4E interaction partners FMRP and CYFIP1 with ASD point to an mRNA mediated pathomechanism for ASD. | 0.000542884 | 2014 | EIF4E | 4 | 98888271 | G | A |
rs4746 | 25201284 | 2739 | GLO1 | umls:C0018817 | BeFree | We previously found the rs4746 A332 (Glu111) allele of the GLO1 gene, which encodes for glyoxalase I, associated with unaffected sibling status in families with one or more children affected by Autism Spectrum Disorder (ASD). | 0.000542884 | 2014 | GLO1 | 6 | 38682852 | T | G |
rs561077 | 20657642 | 9248 | GPR50 | umls:C0018817 | BeFree | Concerning GPR50, we detected a significant association between ASD and two variations, Delta502-505 and T532A, in affected males, but it did not hold up after Bonferonni correction for multiple testing. | 0.000542884 | 2010 | GPR50 | X | 151181177 | A | G |
rs5989681 | 23349736 | 438 | ASMT | umls:C0018817 | BeFree | A previous study reported an association between ASD and single nucleotide polymorphisms (SNPs) rs4446909 and rs5989681 located in the promoter of ASMT. | 0.000814326 | 2013 | ASMT | Y;X | 1614999;1614999 | G | C |
rs6311 | 24753316 | 3356 | HTR2A | umls:C0018817 | BeFree | Consistent with our previous findings in the dorsolateral prefrontal cortex of unaffected individuals, rs6311/A decreases expression of HTR2A mRNA with an extended 5' untranslated region (UTR) in the frontopolar cortex in brain samples from 54 ASD patients and controls. | 0.001357209 | 2014 | HTR2A | 13 | 46897343 | C | T |
rs6449182 | 21528155 | 952 | CD38 | umls:C0018817 | BeFree | In addition, analysis of the role of genetic polymorphisms in the dynamics of the molecule revealed that the genotype of a single-nucleotide polymorphism (rs6449182; C>G variation) in the CpG island of intron 1, harboring the retinoic-acid response element, exerts differential roles in CD38 expression in ASD and in parental LBC. | 0.001628651 | 2011 | CD38 | 4 | 15778830 | C | G |
rs6994992 | 25858800 | 3084 | NRG1 | umls:C0018817 | BeFree | To determine the genetic association between qualitative and quantitative traits of autism spectrum disorder (ASD) and neuregulin 1 (NRG1)-a schizophrenia candidate gene-we examined six single nucleotide polymorphisms (SNPs) in NRG1 using a family-based association test (FBAT) in Korean families with ASD. rs35753505 and rs6994992 SNPs in NRG1 revealed a statistically significant family-based association with three quantitative traits for sociality. | 0.000542884 | 2015 | NRG1 | 8 | 31638065 | C | T |
rs736707 | 24453138 | 79017 | GGCT | umls:C0018817 | BeFree | Our meta-analysis revealed that the RELN rs362691, rather than rs736707 or GGC repeat variant, might contribute significantly to ASD risk. | 0.000271442 | 2013 | RELN;LOC101927870 | 7 | 103489956 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Disease ID | 1315 |
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Disease | atrial septal defects |
Case | (Waiting for update.) |