MCID: ATR023
MIFTS: 14

Atrial Septal Defect 5 malady

Genetic diseases (common) category

Summaries for Atrial Septal Defect 5

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MalaCards based summary: Atrial Septal Defect 5 and has symptoms including defect in the atrial septum 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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Atrial Septal Defect 5, Aliases & Descriptions:

Name: Atrial Septal Defect 5 47 11 22 24 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM47 612794

Related Diseases for Atrial Septal Defect 5

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Symptoms for Atrial Septal Defect 5

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Clinical features from OMIM:

612794

HPO human phenotypes related to Atrial Septal Defect 5:

id Description Frequency HPO Source Accession
1 defect in the atrial septum HP:0001631

Drugs & Therapeutics for Atrial Septal Defect 5

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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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Genetic tests related to Atrial Septal Defect 5:

id Genetic test Affiliating Genes
1 Atrial Septal Defect 522 24 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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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:

7
id Gene Variation 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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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
  • Proteins
  • Kits and Assays

Sources for Atrial Septal Defect 5

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet