MCID: CHR338

Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative malady

Genetic diseases (common) category
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Summaries for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome...

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MalaCards: Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative An important gene associated with Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative is CYBA (cytochrome b-245, alpha polypeptide).

Aliases & Classifications for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome...

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Classifications:

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Global: Genetic diseases (common)


Aliases & Descriptions:

chronic granulomatous disease, autosomal recessive, cytochrome b-negative 20 22


Related Diseases for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome...

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Symptoms for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome...

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Drugs & Therapeutics for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome...

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative

Search NIH Clinical Center for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative

Genetic Tests for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome...

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20GeneTests, 22GTR
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Genetic tests related to Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative:

id Genetic test Affiliating Genes
1 Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative20 CYBA
2 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative22

Anatomical Context for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome...

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Animal Models for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome... or affiliated genes

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Publications for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome...

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Variations for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome...

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative:

1
id Gene Name Type Significance SNP ID Assembly Location
1CYBAnsv513777deletionPathogenic/card/chronic_granulomatous_disease_autosomal_recessive_cytochrome_b_negative
2CYBANM_000101.3(CYBA): c.269G> A (p.Arg90Gln)single nucleotide variantPathogenicrs104894513GRCh37Chr 16, 88713181: 88713181
3CYBANM_000101.3(CYBA): c.354C> A (p.Ser118Arg)single nucleotide variantPathogenicrs104894514GRCh37Chr 16, 88712539: 88712539
4CYBANM_000101.3(CYBA): c.467C> A (p.Pro156Gln)single nucleotide variantPathogenicrs104894515GRCh37Chr 16, 88709882: 88709882
5CYBANM_000101.3(CYBA): c.281A> G (p.His94Arg)single nucleotide variantPathogenicrs104894510GRCh37Chr 16, 88713169: 88713169
6CYBANM_000101.3(CYBA): c.7C> T (p.Gln3Ter)single nucleotide variantPathogenicrs104894511GRCh37Chr 16, 88717415: 88717415
7CYBANM_000101.3(CYBA): c.70G> A (p.Gly24Arg)single nucleotide variantPathogenicrs28941476GRCh37Chr 16, 88714511: 88714511
8CYBANM_000101.3(CYBA): c.373G> A (p.Ala125Thr)single nucleotide variantPathogenicrs119103269GRCh37Chr 16, 88709976: 88709976

Expression for genes affiliated with Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome...

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative

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Pathways for genes affiliated with Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome...

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Compounds for genes affiliated with Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome...

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GO Terms for genes affiliated with Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome...

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Products for genes affiliated with Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome...

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  • Antibodies
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Sources for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome...

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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