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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MalaCards based summary: Atrial Septal Defect 3 and has symptoms including An important gene associated with Atrial Septal Defect 3 is MYH6 (myosin, heavy chain 6, cardiac muscle, alpha).

Description from OMIM:46 614089

Aliases & Classifications for Atrial Septal Defect 3

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Atrial Septal Defect 3, Aliases & Descriptions:

Name: Atrial Septal Defect 3 20 22 46 62


Classifications:



Related Diseases for Atrial Septal Defect 3

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Symptoms for Atrial Septal Defect 3

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Clinical features from OMIM:

614089

HPO human phenotypes related to Atrial Septal Defect 3:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 secundum atrial septal defect HP:0001684

Drugs & Therapeutics for Atrial Septal Defect 3

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Drug clinical trials:

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Search NIH Clinical Center for Atrial Septal Defect 3

Genetic Tests for Atrial Septal Defect 3

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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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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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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:

6
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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Expression patterns in normal tissues for genes affiliated with Atrial Septal Defect 3

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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

Sources for Atrial Septal Defect 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet