MCID: INV007

Invasive Pneumococcal Disease, Recurrent Isolated, 2 malady

Genetic diseases (common) category

Summaries for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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48OMIM, 34MalaCards
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MalaCards: Invasive Pneumococcal Disease, Recurrent Isolated, 2 An important gene associated with Invasive Pneumococcal Disease, Recurrent Isolated, 2 is IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma).

Description from OMIM:48 300640

Aliases & Classifications for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

invasive pneumococcal disease, recurrent isolated, 2 48


Related Diseases for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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Symptoms for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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48OMIM
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Clinical features from OMIM:

300640

Drugs & Therapeutics for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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

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Drug clinical trials:

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Genetic Tests for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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Anatomical Context for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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Animal Models for Invasive Pneumococcal Disease, Recurrent Isolated, 2 or affiliated genes

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Publications for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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Variations for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Invasive Pneumococcal Disease, Recurrent Isolated, 2:

65
id Symbol AA change Variation ID SNP ID
1IKBKGp.Arg173GlyVAR_031958rs179363866

Clinvar genetic disease variations for Invasive Pneumococcal Disease, Recurrent Isolated, 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1IKBKGNM_003639.4(IKBKG): c.517C> G (p.Arg173Gly)single nucleotide variantPathogenicrs179363866GRCh37Chr X, 153786864: 153786864

Expression for genes affiliated with Invasive Pneumococcal Disease, Recurrent Isolated, 2

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Invasive Pneumococcal Disease, Recurrent Isolated, 2

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Pathways for genes affiliated with Invasive Pneumococcal Disease, Recurrent Isolated, 2

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Compounds for genes affiliated with Invasive Pneumococcal Disease, Recurrent Isolated, 2

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GO Terms for genes affiliated with Invasive Pneumococcal Disease, Recurrent Isolated, 2

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Products for genes affiliated with Invasive Pneumococcal Disease, Recurrent Isolated, 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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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