MCID: EMP008

Emphysema-Cirrhosis, Due to Aat Deficiency malady

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Summaries for Emphysema-Cirrhosis, Due to Aat Deficiency

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MalaCards based summary: Emphysema-Cirrhosis, Due to Aat Deficiency 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:46 613490

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

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Emphysema-Cirrhosis, Due to Aat Deficiency, Aliases & Descriptions:

Name: Emphysema-Cirrhosis, Due to Aat Deficiency 46


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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Clinical features from OMIM:

613490

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

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Drug clinical trials:

Search ClinicalTrials for Emphysema-Cirrhosis, Due to Aat Deficiency

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

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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Clinvar genetic disease variations for Emphysema-Cirrhosis, Due to Aat Deficiency:

6
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 Emphysema-Cirrhosis, Due to Aat Deficiency

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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

Sources for Emphysema-Cirrhosis, Due to Aat Deficiency

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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