MCID: ATR023
MIFTS: 13

Atrial Septal Defect 5 malady

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

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:46 612794

Aliases & Classifications for Atrial Septal Defect 5

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Atrial Septal Defect 5, Aliases & Descriptions:

Name: Atrial Septal Defect 5 21 23 46 61


Classifications:



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 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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UniProtKB/Swiss-Prot genetic disease variations for Atrial Septal Defect 5:

63
id Symbol AA change Variation ID SNP ID
1ACTC1p.Met125ValVAR_046502

Clinvar genetic disease variations for Atrial Septal Defect 5:

7
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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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
  • Proteins
  • Kits and Assays

Sources for Atrial Septal Defect 5

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet