MCID: BCG004
MIFTS: 29

Bcg and Salmonella Infection, Disseminated malady

Genetic diseases (common) category
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Summaries for Bcg and Salmonella Infection, Disseminated

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47OMIM, 33MalaCards
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MalaCards: Bcg and Salmonella Infection, Disseminated is related to malaria and immunodeficiency, common variable, 7. An important gene associated with Bcg and Salmonella Infection, Disseminated is IFNGR1 (interferon gamma receptor 1), and among its related pathways are HIF-1 signaling pathway and all-trans-Retinoic Acid Mediated Apoptosis. The compounds il-12 and deferoxamine have been mentioned in the context of this disorder. Related mouse phenotypes are digestive/alimentary and tumorigenesis.

Description from OMIM:47 209950

Aliases & Classifications for Bcg and Salmonella Infection, Disseminated

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47OMIM
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Classifications:

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


Aliases & Descriptions:

bcg and salmonella infection, disseminated 47


Related Diseases for Bcg and Salmonella Infection, Disseminated

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Bcg and Salmonella Infection, Disseminated:



Diseases related to bcg and salmonella infection, disseminated

Symptoms for Bcg and Salmonella Infection, Disseminated

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47OMIM
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Clinical features from OMIM:

209950

Drugs & Therapeutics for Bcg and Salmonella Infection, Disseminated

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Bcg and Salmonella Infection, Disseminated

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Anatomical Context for Bcg and Salmonella Infection, Disseminated

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Animal Models for Bcg and Salmonella Infection, Disseminated or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Bcg and Salmonella Infection, Disseminated:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.7IL12B, IFNGR1, STAT1
2MP:00020068.4IL12B, IFNGR1, STAT1
3MP:00053977.6IL12B, IL12RB1, IFNGR1, IFNGR2, STAT1
4MP:00053877.5STAT1, IFNGR2, IFNGR1, IL12RB1, IL12B
5MP:00053767.4STAT1, IFNGR2, IFNGR1, IL12RB1, IL12B

Publications for Bcg and Salmonella Infection, Disseminated

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Variations for Bcg and Salmonella Infection, Disseminated

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Bcg and Salmonella Infection, Disseminated:

64
id Symbol AA change Variation ID SNP ID
1IFNGR1p.Cys77TyrVAR_017577
2IFNGR1p.Ile87ThrVAR_017578
3IFNGR2p.Thr168AsnVAR_023281
4IL12RB1p.Arg213TrpVAR_015577
5STAT1p.Leu706SerVAR_018266
6STAT1p.Glu320GlnVAR_065816
7STAT1p.Gln463HisVAR_065817
8STAT1p.Lys637GluVAR_068713
9STAT1p.Lys673ArgVAR_068714

Clinvar genetic disease variations for Bcg and Salmonella Infection, Disseminated:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1IFNGR2IFNGR2, 2-BP DEL, 278AGdeletionPathogenic
2IFNGR2NM_005534.3(IFNGR2): c.503C> A (p.Thr168Asn)single nucleotide variantPathogenicrs74315444GRCh37Chr 21, 34799281: 34799281
3IFNGR2IFNGR2, 7-BP DEL, NT663deletionPathogenic
4IFNGR1NM_000416.2(IFNGR1): c.446C> A (p.Ser149Ter)single nucleotide variantPathogenicrs387906572GRCh37Chr 6, 137525569: 137525569
5IFNGR1IFNGR1, 4-BP INS, 107TTACinsertionPathogenic
6IFNGR1IFNGR1, IVS3DS, G-A, +1single nucleotide variantPathogenic
7IFNGR1IFNGR1, 12-BP DEL, NT295deletionPathogenic
8IFNGR1NM_000416.2(IFNGR1): c.182T> A (p.Val61Glu)single nucleotide variantPathogenicrs121912715GRCh37Chr 6, 137528118: 137528118
9IFNGR1IFNGR1, 3-BP DEL, 652GAA or 653AAGdeletionPathogenic
10IFNGR1IFNGR1, 1-BP DEL, 794TdeletionPathogenic
11IFNGR1NM_000416.2(IFNGR1): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs387906593GRCh37Chr 6, 137540463: 137540463
12STAT1NM_007315.3(STAT1): c.2117T> C (p.Leu706Ser)single nucleotide variantPathogenicrs137852677GRCh37Chr 2, 191840556: 191840556
13STAT1NM_007315.3(STAT1): c.1389G> T (p.Gln463His)single nucleotide variantPathogenicrs137852679GRCh37Chr 2, 191848425: 191848425
14STAT1NM_007315.3(STAT1): c.958G> C (p.Glu320Gln)single nucleotide variantPathogenicrs137852680GRCh37Chr 2, 191856033: 191856033

Expression for genes affiliated with Bcg and Salmonella Infection, Disseminated

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bcg and Salmonella Infection, Disseminated

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Pathways for genes affiliated with Bcg and Salmonella Infection, Disseminated

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50PathCards, 30KEGG, 53QIAGEN, 60Thomson Reuters, 55Reactome, 38NCBI BioSystems Database, 54R&D Systems
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Pathways related to Bcg and Salmonella Infection, Disseminated according to GeneCards/GeneDecks:

(show all 32)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5IFNGR1, IFNGR2
29.5IFNGR2, IFNGR1
3
Show member pathways
9.5IFNGR1, IFNGR2
4
Show member pathways
9.5IFNGR2, IFNGR1
5
Show member pathways
Immune response CD16 signaling in NK cells60
9.5IFNGR1, IFNGR2
69.3IL12B, IL12RB1
7
Show member pathways
9.3IL12B, IL12RB1
8
Show member pathways
9.2STAT1, IFNGR1
98.7STAT1, IFNGR2, IFNGR1
108.7IFNGR1, IFNGR2, STAT1
11
Show member pathways
8.7IFNGR1, IFNGR2, STAT1
12
Show member pathways
Transcription NF kB signaling pathway60
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response60
8.7IFNGR1, IFNGR2, STAT1
13
Show member pathways
8.7STAT1, IFNGR2, IFNGR1
14
Show member pathways
Immune response MIF in innate immunity response60
8.7IFNGR1, IFNGR2, STAT1
15
Show member pathways
IFN-gamma pathway38
8.7STAT1, IFNGR2, IFNGR1
168.7STAT1, IFNGR2, IFNGR1
178.7STAT1, IFNGR2, IFNGR1
18
Show member pathways
8.5IL12B, IL12RB1, STAT1
19
Show member pathways
Immune response IL 12 induced IFN gamma production60
8.5IL12B, IL12RB1, STAT1
20
Show member pathways
8.5IL12B, IL12RB1, STAT1
21
Show member pathways
IL23-mediated signaling events38
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling38
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
8.5STAT1, IL12RB1, IL12B
22
Show member pathways
Immune response IL 22 signaling pathway60
G protein signaling N RAS regulation pathway60
8.5STAT1, IL12RB1, IL12B
23
Show member pathways
8.5STAT1, IL12RB1, IL12B
24
Show member pathways
8.4IL12B, IL12RB1, IFNGR1, IFNGR2
25
Show member pathways
8.4IFNGR2, IFNGR1, IL12RB1, IL12B
268.2IL12B, IFNGR1, IFNGR2, STAT1
27
Show member pathways
Toll-like receptor signaling pathway38
Regulation of toll-like receptor signaling pathway38
8.2STAT1, IFNGR2, IFNGR1, IL12B
28
Show member pathways
8.2IL12B, IFNGR1, IFNGR2, STAT1
29
Show member pathways
Type III interferon signaling38
7.5STAT1, IFNGR2, IFNGR1, IL12RB1, IL12B
30
Show member pathways
IL27-mediated signaling events38
7.5IL12B, IL12RB1, IFNGR1, IFNGR2, STAT1
31
Show member pathways
7.5STAT1, IFNGR2, IFNGR1, IL12RB1, IL12B
32
Show member pathways
7.5STAT1, IFNGR2, IFNGR1, IL12RB1, IL12B

Compounds for genes affiliated with Bcg and Salmonella Infection, Disseminated

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45Novoseek, 11DrugBank, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Bcg and Salmonella Infection, Disseminated according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1il-12459.4IL12B, IL12RB1
2deferoxamine45 1110.2STAT1, IFNGR1
3imiquimod45 61 29 1112.2IL12B, STAT1
4endotoxin459.1IL12B, STAT1
5polyinosinic-polycytidylic acid459.0IL12B, STAT1
6poly(i-c)458.8IL12B, STAT1
7gp 130458.7IL12RB1, IFNGR1, STAT1

GO Terms for genes affiliated with Bcg and Salmonella Infection, Disseminated

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16Gene Ontology
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Biological processes related to Bcg and Salmonella Infection, Disseminated according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of T-helper 17 cell lineage commitmentGO:20003309.6IL12B, IL12RB1
2positive regulation of memory T cell differentiationGO:0433829.6IL12B, IL12RB1
3positive regulation of T-helper 17 type immune responseGO:20003189.5IL12B, IL12RB1
4positive regulation of T-helper 1 type immune responseGO:0028279.5IL12RB1, IL12B
5positive regulation of defense response to virus by hostGO:0022309.5IL12B, IL12RB1
6positive regulation of T cell mediated cytotoxicityGO:0019169.4IL12B, IL12RB1
7positive regulation of activated T cell proliferationGO:0421049.4IL12B, IL12RB1
8cellular response to interferon-gammaGO:0713469.3IL12RB1, IL12B
9positive regulation of interferon-gamma productionGO:0327299.2IL12B, IL12RB1
10response to virusGO:0096159.2IFNGR1, IFNGR2
11defense response to virusGO:0516079.1IL12B, STAT1
12regulation of interferon-gamma-mediated signaling pathwayGO:0603349.0IFNGR1, IFNGR2, STAT1
13interferon-gamma-mediated signaling pathwayGO:0603338.9STAT1, IFNGR2, IFNGR1
14cytokine-mediated signaling pathwayGO:0192218.3IL12RB1, IFNGR1, IFNGR2, STAT1

Molecular functions related to Bcg and Salmonella Infection, Disseminated according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interferon-gamma receptor activityGO:0049069.4IFNGR1, IFNGR2
2cytokine receptor activityGO:0048969.3IL12B, IL12RB1
3interleukin-12 receptor bindingGO:0051439.0IL12B, IL12RB1

Products for genes affiliated with Bcg and Salmonella Infection, Disseminated

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4CDC
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
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30KEGG
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37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet