MCID: CHR405
MIFTS: 10

Chronic Granulomatous Disease Due to Deficiency of Ncf-2 malady

Summaries for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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46OMIM, 32MalaCards
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MalaCards: Chronic Granulomatous Disease Due to Deficiency of Ncf-2 An important gene associated with Chronic Granulomatous Disease Due to Deficiency of Ncf-2 is NCF2 (neutrophil cytosolic factor 2).

Description from OMIM:46 233710

Aliases & Classifications for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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46OMIM
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Aliases & Descriptions:

chronic granulomatous disease due to deficiency of ncf-2 46


Related Diseases for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Clinical Features for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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46OMIM
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Clinical features from OMIM:

233710

Clinical synopsis from OMIM:

233710

Drugs & Therapeutics for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

Drug clinical trials:

Search ClinicalTrials for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

Search NIH Clinical Center for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

Search CenterWatch for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

Genetic Tests for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Anatomical Context for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Animal Models for Chronic Granulomatous Disease Due to Deficiency of Ncf-2 or affiliated genes

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Publications for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Genetic Variations for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Chronic Granulomatous Disease Due to Deficiency of Ncf-2:

62 (show all 15)
id Symbol AA change Variation ID SNP ID
1NCF2p.Gly78GluVAR_008904rs137854519
2NCF2p.Arg77GlnVAR_017388rs119103275
3NCF2p.Ala128ValVAR_017389rs119103274
4NCF2p.Asn419IleVAR_052621rs35012521
5NCF2p.Asn42SerVAR_065002rs137854514
6NCF2p.Gly44CysVAR_065003rs137854510
7NCF2p.Gly44ArgVAR_065004rs137854510
8NCF2p.Asp93GluVAR_065007rs137854507
9NCF2p.Arg102ProVAR_065009rs137854515
10NCF2p.Asp108ValVAR_065010rs137854509
11NCF2p.Trp137ArgVAR_065011rs137854516
12NCF2p.Ala140AspVAR_065012rs137854520
13NCF2p.Gln169GluVAR_065013rs137854517
14NCF2p.Arg184ProVAR_065014rs137854518
15NCF2p.Ala202ValVAR_065016rs137854508

Expression for genes affiliated with Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chronic Granulomatous Disease Due to Deficiency of Ncf-2

Search GEO for disease gene expression data for Chronic Granulomatous Disease Due to Deficiency of Ncf-2.

Pathways for genes affiliated with Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Compounds for genes affiliated with Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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GO Terms for genes affiliated with Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Products for genes affiliated with Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet