MCID: ATR023
MIFTS: 12

Atrial Septal Defect 5 malady

Genetic diseases, Cardiovascular diseases, Fetal diseases, Rare diseases categories

Summaries for Atrial Septal Defect 5

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Sources:
48OMIM, 34MalaCards
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MalaCards: Atrial Septal Defect 5 An important gene associated with Atrial Septal Defect 5 is ACTC1 (actin, alpha, cardiac muscle 1).

Description from OMIM:48 612794

Aliases & Classifications for Atrial Septal Defect 5

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Sources:
21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:



Aliases & Descriptions:

atrial septal defect 5 21 23 48 63


Related Diseases for Atrial Septal Defect 5

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Symptoms for Atrial Septal Defect 5

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Sources:
48OMIM
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Clinical features from OMIM:

612794

Drugs & Therapeutics for Atrial Septal Defect 5

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Atrial Septal Defect 5

Drug clinical trials:

Search ClinicalTrials for Atrial Septal Defect 5

Search NIH Clinical Center for Atrial Septal Defect 5

Search CenterWatch for Atrial Septal Defect 5

Genetic Tests for Atrial Septal Defect 5

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21GeneTests, 23GTR
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Genetic tests related to Atrial Septal Defect 5:

id Genetic test Affiliating Genes
1 Atrial Septal Defect 521 23 ACTC1

Anatomical Context for Atrial Septal Defect 5

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Animal Models for Atrial Septal Defect 5 or affiliated genes

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Publications for Atrial Septal Defect 5

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Variations for Atrial Septal Defect 5

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Atrial Septal Defect 5:

65
id Symbol AA change Variation ID SNP ID
1ACTC1p.Met125ValVAR_046502

Clinvar genetic disease variations for Atrial Septal Defect 5:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_005159.4(ACTC1): c.373A> G (p.Met125Val)single nucleotide variantPathogenicrs121912677GRCh37Chr 15, 35085527: 35085527
2NM_005159.4(ACTC1): c.214_230del17 (p.Pro72Hisfs)deletionPathogenicrs387906585GRCh37Chr 15, 35085670: 35085686

Expression for genes affiliated with Atrial Septal Defect 5

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Atrial Septal Defect 5

Search GEO for disease gene expression data for Atrial Septal Defect 5.

Pathways for genes affiliated with Atrial Septal Defect 5

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Compounds for genes affiliated with Atrial Septal Defect 5

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GO Terms for genes affiliated with Atrial Septal Defect 5

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Products for genes affiliated with Atrial Septal Defect 5

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Atrial Septal Defect 5

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet