MCID: CHR340

Chronic Granulomatous Disease, X-Linked malady

Genetic diseases (common) category
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Summaries for Chronic Granulomatous Disease, X-Linked

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33MalaCards
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MalaCards: Chronic Granulomatous Disease, X-Linked is related to chronic granulomatous disease. An important gene associated with Chronic Granulomatous Disease, X-Linked is CYBB (cytochrome b-245, beta polypeptide).

Aliases & Classifications for Chronic Granulomatous Disease, X-Linked

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20GeneTests, 22GTR
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Classifications:

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


Aliases & Descriptions:

chronic granulomatous disease, x-linked 20 22


Related Diseases for Chronic Granulomatous Disease, X-Linked

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Chronic Granulomatous Disease, X-Linked via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chronic granulomatous disease10.7

Symptoms for Chronic Granulomatous Disease, X-Linked

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Drugs & Therapeutics for Chronic Granulomatous Disease, X-Linked

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Chronic Granulomatous Disease, X-Linked

Search NIH Clinical Center for Chronic Granulomatous Disease, X-Linked

Genetic Tests for Chronic Granulomatous Disease, X-Linked

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20GeneTests, 22GTR
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Genetic tests related to Chronic Granulomatous Disease, X-Linked:

id Genetic test Affiliating Genes
1 Chronic Granulomatous Disease, X-Linked20 22 CYBB

Anatomical Context for Chronic Granulomatous Disease, X-Linked

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Animal Models for Chronic Granulomatous Disease, X-Linked or affiliated genes

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Publications for Chronic Granulomatous Disease, X-Linked

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Variations for Chronic Granulomatous Disease, X-Linked

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Chronic Granulomatous Disease, X-Linked:

1
id Gene Name Type Significance SNP ID Assembly Location
1CYBBNM_000397.3(CYBB): c.625C> T (p.His209Tyr)single nucleotide variantPathogenicrs137854587GRCh37Chr X, 37655345: 37655345
2CYBBNM_000397.3(CYBB): c.217C> T (p.Arg73Ter)single nucleotide variantPathogenicrs137854588GRCh37Chr X, 37642818: 37642818
3CYBBNM_000397.3(CYBB): c.911C> G (p.Pro304Arg)single nucleotide variantPathogenicrs137854596GRCh37Chr X, 37663143: 37663143
4CYBBNM_000397.3(CYBB): c.676C> T (p.Arg226Ter)single nucleotide variantPathogenicrs137854592GRCh37Chr X, 37658209: 37658209
5CYBBNM_000397.3(CYBB): c.1499A> G (p.Asp500Gly)single nucleotide variantPathogenicrs137854593GRCh37Chr X, 37668857: 37668857
6CYBBNM_000397.3(CYBB): c.252G> A (p.Ala84=)single nucleotide variantPathogenicrs387906485GRCh37Chr X, 37642853: 37642853

Expression for genes affiliated with Chronic Granulomatous Disease, X-Linked

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chronic Granulomatous Disease, X-Linked

Search GEO for disease gene expression data for Chronic Granulomatous Disease, X-Linked.

Pathways for genes affiliated with Chronic Granulomatous Disease, X-Linked

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Compounds for genes affiliated with Chronic Granulomatous Disease, X-Linked

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GO Terms for genes affiliated with Chronic Granulomatous Disease, X-Linked

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Products for genes affiliated with Chronic Granulomatous Disease, X-Linked

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chronic Granulomatous Disease, X-Linked

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet