MCID: CHR405
MIFTS: 10

Chronic Granulomatous Disease Due to Deficiency of Ncf-2 malady

Genetic diseases (common) category

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

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48OMIM, 34MalaCards
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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:48 233710

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

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48OMIM
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Classifications:

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


Aliases & Descriptions:

chronic granulomatous disease due to deficiency of ncf-2 48


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

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

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

233710

Clinical features from OMIM:

233710

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

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Sources:
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 Due to Deficiency of Ncf-2

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

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Chronic Granulomatous Disease Due to Deficiency of Ncf-2:

65 (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

Clinvar genetic disease variations for Chronic Granulomatous Disease Due to Deficiency of Ncf-2:

1
id Gene Name Type Significance SNP ID Assembly Location
1NCF2NCF2, 2-BP INS, 399AGinsertionPathogenic
2NCF2NM_000433.3(NCF2): c.479A> T (p.Asp160Val)single nucleotide variantPathogenicrs267606912GRCh37Chr 1, 183543644: 183543644
3NCF2NCF2, 304C-Tsingle nucleotide variantPathogenic
4NCF2NCF2, 5-BP DEL, NT1169deletionPathogenic
5NCF2NCF2, IVS4DS, G-A, +1single nucleotide variantPathogenic
6NCF2NM_000433.3(NCF2): c.298C> T (p.Gln100Ter)single nucleotide variantPathogenicrs119103276GRCh37Chr 1, 183546802: 183546802
7NCF2NCF2, 9-BP DEL, NT55deletionPathogenic
8NCF2NM_000433.3(NCF2): c.383C> T (p.Ala128Val)single nucleotide variantPathogenicrs119103274GRCh37Chr 1, 183543740: 183543740
9NCF2NM_000433.3(NCF2): c.230G> A (p.Arg77Gln)single nucleotide variantPathogenicrs119103275GRCh37Chr 1, 183556057: 183556057
10NCF2NM_000433.3(NCF2): c.1183C> T (p.Arg395Trp)single nucleotide variantPathogenicrs13306575GRCh37Chr 1, 183532437: 183532437

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

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Sources:
2BioGPS, 16Gene 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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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