MCID: HMR040

Hemorrhagic Diathesis Due to Antithrombin Pittsburgh malady

Blood diseases category

Summaries for Hemorrhagic Diathesis Due to Antithrombin Pittsburgh

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MalaCards based summary: Hemorrhagic Diathesis Due to Antithrombin Pittsburgh An important gene associated with Hemorrhagic Diathesis Due to Antithrombin Pittsburgh is SERPINA1 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1).

Description from OMIM:46 613490

Aliases & Classifications for Hemorrhagic Diathesis Due to Antithrombin Pittsburgh

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Hemorrhagic Diathesis Due to Antithrombin Pittsburgh, Aliases & Descriptions:

Name: Hemorrhagic Diathesis Due to Antithrombin Pittsburgh 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Related Diseases for Hemorrhagic Diathesis Due to Antithrombin Pittsburgh

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Symptoms for Hemorrhagic Diathesis Due to Antithrombin Pittsburgh

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Clinical features from OMIM:

613490

Drugs & Therapeutics for Hemorrhagic Diathesis Due to Antithrombin Pittsburgh

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Drug clinical trials:

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Genetic Tests for Hemorrhagic Diathesis Due to Antithrombin Pittsburgh

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Anatomical Context for Hemorrhagic Diathesis Due to Antithrombin Pittsburgh

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Animal Models for Hemorrhagic Diathesis Due to Antithrombin Pittsburgh or affiliated genes

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Publications for Hemorrhagic Diathesis Due to Antithrombin Pittsburgh

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Variations for Hemorrhagic Diathesis Due to Antithrombin Pittsburgh

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Clinvar genetic disease variations for Hemorrhagic Diathesis Due to Antithrombin Pittsburgh:

7
id Gene Name Type Significance SNP ID Assembly Location
1SERPINA1NM_001127701.1(SERPINA1): c.552delC (p.Tyr184Terfs)deletionPathogenicGRCh37Chr 14, 94849023: 94849023

Expression for genes affiliated with Hemorrhagic Diathesis Due to Antithrombin Pittsburgh

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Expression patterns in normal tissues for genes affiliated with Hemorrhagic Diathesis Due to Antithrombin Pittsburgh

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Pathways for genes affiliated with Hemorrhagic Diathesis Due to Antithrombin Pittsburgh

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Compounds for genes affiliated with Hemorrhagic Diathesis Due to Antithrombin Pittsburgh

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GO Terms for genes affiliated with Hemorrhagic Diathesis Due to Antithrombin Pittsburgh

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Products for genes affiliated with Hemorrhagic Diathesis Due to Antithrombin Pittsburgh

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hemorrhagic Diathesis Due to Antithrombin Pittsburgh

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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