MCID: ATR023
MIFTS: 12

Atrial Septal Defect 5 malady

Genetic diseases, Cardiovascular diseases, Fetal diseases, Rare diseases categories
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Summaries for Atrial Septal Defect 5

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Sources:
47OMIM, 33MalaCards
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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:47 612794

Aliases & Classifications for Atrial Septal Defect 5

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Sources:
20GeneTests, 22GTR, 47OMIM, 62UMLS
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Classifications:



Aliases & Descriptions:

atrial septal defect 5 20 22 47 62


Related Diseases for Atrial Septal Defect 5

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Symptoms for Atrial Septal Defect 5

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47OMIM
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Clinical features from OMIM:

612794

Drugs & Therapeutics for Atrial Septal Defect 5

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Atrial Septal Defect 5

Search NIH Clinical Center for Atrial Septal Defect 5

Genetic Tests for Atrial Septal Defect 5

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20GeneTests, 22GTR
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Genetic tests related to Atrial Septal Defect 5:

id Genetic test Affiliating Genes
1 Atrial Septal Defect 520 22 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:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Atrial Septal Defect 5:

64
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, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet