MCID: INV007

Invasive Pneumococcal Disease, Recurrent Isolated, 2 malady

Genetic diseases (common) category

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

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Aliases & Descriptions for Invasive Pneumococcal Disease, Recurrent Isolated, 2:

Name: Invasive Pneumococcal Disease, Recurrent Isolated, 2 46 9


Classifications:



External Ids:

OMIM46 300640

Summaries for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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MalaCards based summary: Invasive Pneumococcal Disease, Recurrent Isolated, 2 and has symptoms including hypodontia, dry skin and frontal bossing. 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). Affiliated tissues include skin.

Description from OMIM:46 300640

Related Diseases for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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Diseases in the Invasive Pneumococcal Disease, Recurrent Isolated, 1 family:

invasive pneumococcal disease, recurrent isolated, 2

Symptoms for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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Clinical features from OMIM:

300640

HPO human phenotypes related to Invasive Pneumococcal Disease, Recurrent Isolated, 2:

id Description Frequency HPO Source Accession
1 hypodontia HP:0000668
2 dry skin HP:0000958
3 frontal bossing HP:0002007
4 recurrent streptococcus pneumoniae infections HP:0005366
5 conical incisor HP:0011065

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

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Drug clinical trials:

Search ClinicalTrials for Invasive Pneumococcal Disease, Recurrent Isolated, 2

Search NIH Clinical Center for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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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MalaCards organs/tissues related to Invasive Pneumococcal Disease, Recurrent Isolated, 2:

31
Skin

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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UniProtKB/Swiss-Prot genetic disease variations for Invasive Pneumococcal Disease, Recurrent Isolated, 2:

63
id Symbol AA change Variation ID SNP ID
1IKBKGp.Arg173GlyVAR_031958rs179363866

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

5
id Gene Variation 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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Search GEO for disease gene expression data for Invasive Pneumococcal Disease, Recurrent Isolated, 2.

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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Sources for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet