MCID: EMP008

Emphysema-Cirrhosis, Due to Aat Deficiency malady

Summaries for Emphysema-Cirrhosis, Due to Aat Deficiency

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48OMIM, 34MalaCards
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MalaCards: Emphysema-Cirrhosis, Due to Aat Deficiency, is also known as pathological accumulation of air in tissues An important gene associated with Emphysema-Cirrhosis, Due to Aat Deficiency is SERPINA1 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1).

Description from OMIM:48 613490

Aliases & Classifications for Emphysema-Cirrhosis, Due to Aat Deficiency

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48OMIM, 63UMLS
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Aliases & Descriptions:

emphysema-cirrhosis, due to aat deficiency 48
pathological accumulation of air in tissues 63


Related Diseases for Emphysema-Cirrhosis, Due to Aat Deficiency

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Symptoms for Emphysema-Cirrhosis, Due to Aat Deficiency

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Sources:
48OMIM
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Clinical features from OMIM:

613490

Drugs & Therapeutics for Emphysema-Cirrhosis, Due to Aat Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Emphysema-Cirrhosis, Due to Aat Deficiency

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Genetic Tests for Emphysema-Cirrhosis, Due to Aat Deficiency

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Anatomical Context for Emphysema-Cirrhosis, Due to Aat Deficiency

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Animal Models for Emphysema-Cirrhosis, Due to Aat Deficiency or affiliated genes

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Publications for Emphysema-Cirrhosis, Due to Aat Deficiency

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Variations for Emphysema-Cirrhosis, Due to Aat Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Emphysema-Cirrhosis, Due to Aat Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1SERPINA1NM_001127701.1(SERPINA1): c.552delC (p.Tyr184Terfs)deletionPathogenic, other/card/emphysema_cirrhosis_due_to_aat_deficiencyGRCh37Chr 14, 94849023: 94849023

Expression for genes affiliated with Emphysema-Cirrhosis, Due to Aat Deficiency

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Emphysema-Cirrhosis, Due to Aat Deficiency

Search GEO for disease gene expression data for Emphysema-Cirrhosis, Due to Aat Deficiency.

Pathways for genes affiliated with Emphysema-Cirrhosis, Due to Aat Deficiency

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Compounds for genes affiliated with Emphysema-Cirrhosis, Due to Aat Deficiency

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GO Terms for genes affiliated with Emphysema-Cirrhosis, Due to Aat Deficiency

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Products for genes affiliated with Emphysema-Cirrhosis, Due to Aat Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Emphysema-Cirrhosis, Due to Aat Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet