MCID: ATR022
MIFTS: 12

Atrial Septal Defect 3 malady

Genetic diseases, Cardiovascular diseases, Fetal diseases, Rare diseases categories
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Summaries for Atrial Septal Defect 3

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Sources:
47OMIM, 33MalaCards
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MalaCards: Atrial Septal Defect 3 An important gene associated with Atrial Septal Defect 3 is MYH6 (myosin, heavy chain 6, cardiac muscle, alpha).

Description from OMIM:47 614089

Aliases & Classifications for Atrial Septal Defect 3

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



Aliases & Descriptions:

atrial septal defect 3 20 22 47 62


Related Diseases for Atrial Septal Defect 3

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Symptoms for Atrial Septal Defect 3

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Sources:
47OMIM
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Clinical features from OMIM:

614089

Drugs & Therapeutics for Atrial Septal Defect 3

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

Search ClinicalTrials for Atrial Septal Defect 3

Search NIH Clinical Center for Atrial Septal Defect 3

Genetic Tests for Atrial Septal Defect 3

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20GeneTests, 22GTR
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Genetic tests related to Atrial Septal Defect 3:

id Genetic test Affiliating Genes
1 Atrial Septal Defect 320 22 MYH6

Anatomical Context for Atrial Septal Defect 3

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Animal Models for Atrial Septal Defect 3 or affiliated genes

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Publications for Atrial Septal Defect 3

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52PubMed
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Articles related to Atrial Septal Defect 3:

idTitleAuthorsYear
1
REPAIR OF ATRIAL SEPTAL DEFECT. 3. THORACIC THEATRE. (14105511)
1964

Variations for Atrial Septal Defect 3

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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 3:

64
id Symbol AA change Variation ID SNP ID
1MYH6p.Ile820AsnVAR_031883

Clinvar genetic disease variations for Atrial Septal Defect 3:

1
id Gene Name Type Significance SNP ID Assembly Location
1MYH6NM_002471.3(MYH6): c.2459T> A (p.Ile820Asn)single nucleotide variantPathogenicrs267606903GRCh37Chr 14, 23863503: 23863503

Expression for genes affiliated with Atrial Septal Defect 3

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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 3

Search GEO for disease gene expression data for Atrial Septal Defect 3.

Pathways for genes affiliated with Atrial Septal Defect 3

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Compounds for genes affiliated with Atrial Septal Defect 3

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GO Terms for genes affiliated with Atrial Septal Defect 3

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Products for genes affiliated with Atrial Septal Defect 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Atrial Septal Defect 3

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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