MCID: CHR339
MIFTS: 11

Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii malady

Genetic diseases (common) category

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

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MalaCards: Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii, is also known as granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii An important gene associated with Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii is NCF4 (neutrophil cytosolic factor 4, 40kDa).

Description from OMIM:48 613960

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

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21GeneTests, 23GTR, 48OMIM
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Classifications:

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


Aliases & Descriptions:

chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type iii 21 23
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii 48


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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Symptoms by clinical synopsis from OMIM:

613960

Clinical features from OMIM:

613960

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

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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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Search NIH Clinical Center for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii

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

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Genetic tests related to Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

id Genetic test Affiliating Genes
1 Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii21 NCF4
2 Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Positive, Type 323

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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

65
id Symbol AA change Variation ID SNP ID
1NCF4p.Arg105GlnVAR_065949

Clinvar genetic disease variations for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

1
id Gene Name Type Significance SNP ID Assembly Location
1NCF4NCF4, 10-BP DUP, NT3957duplicationPathogenic
2NCF4NM_013416.3(NCF4): c.314G> A (p.Arg105Gln)single nucleotide variantPathogenicrs387906808GRCh37Chr 22, 37263476: 37263476

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

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii

Search GEO for disease gene expression data for Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii.

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
  • Proteins
  • Lysates
  • Antibodies

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

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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