MCID: BCG004
MIFTS: 29

Bcg and Salmonella Infection, Disseminated malady

Genetic diseases (common) category

Summaries for Bcg and Salmonella Infection, Disseminated

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 209950

Aliases & Classifications for Bcg and Salmonella Infection, Disseminated

About this section
Sources:
48OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

bcg and salmonella infection, disseminated 48


Related Diseases for Bcg and Salmonella Infection, Disseminated

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

209950

Drugs & Therapeutics for Bcg and Salmonella Infection, Disseminated

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Bcg and Salmonella Infection, Disseminated

Drug clinical trials:

Search ClinicalTrials for Bcg and Salmonella Infection, Disseminated

Search NIH Clinical Center for Bcg and Salmonella Infection, Disseminated

Search CenterWatch for Bcg and Salmonella Infection, Disseminated

Genetic Tests for Bcg and Salmonella Infection, Disseminated

About this section

Anatomical Context for Bcg and Salmonella Infection, Disseminated

About this section

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

About this section
Sources:
38MGI
See all sources

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

38
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

About this section

Variations for Bcg and Salmonella Infection, Disseminated

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Bcg and Salmonella Infection, Disseminated:

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Bcg and Salmonella Infection, Disseminated

Search GEO for disease gene expression data for Bcg and Salmonella Infection, Disseminated.

Pathways for genes affiliated with Bcg and Salmonella Infection, Disseminated

About this section
Sources:
51PathCards, 31KEGG, 54QIAGEN, 61Thomson Reuters, 56Reactome, 39NCBI BioSystems Database, 55R&D Systems
See all sources

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 cells61
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 pathway61
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response61
8.7IFNGR1, IFNGR2, STAT1
13
Show member pathways
8.7STAT1, IFNGR2, IFNGR1
14
Show member pathways
Immune response MIF in innate immunity response61
8.7IFNGR1, IFNGR2, STAT1
15
Show member pathways
IFN-gamma pathway39
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 production61
8.5IL12B, IL12RB1, STAT1
20
Show member pathways
8.5IL12B, IL12RB1, STAT1
21
Show member pathways
IL23-mediated signaling events39
Immune response IL 10 signaling pathway61
Angiopoietin receptor Tie2-mediated signaling39
Development PDGF signaling via STATs and NF kB61
Development Angiopoietin Tie2 signaling61
8.5STAT1, IL12RB1, IL12B
22
Show member pathways
Immune response IL 22 signaling pathway61
G protein signaling N RAS regulation pathway61
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 pathway39
Regulation of toll-like receptor signaling pathway39
8.2STAT1, IFNGR2, IFNGR1, IL12B
28
Show member pathways
8.2IL12B, IFNGR1, IFNGR2, STAT1
29
Show member pathways
Type III interferon signaling39
7.5STAT1, IFNGR2, IFNGR1, IL12RB1, IL12B
30
Show member pathways
IL27-mediated signaling events39
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

About this section
Sources:
46Novoseek, 12DrugBank, 62Tocris Bioscience, 30IUPHAR
See all sources

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

idCompoundScoreTop Affiliating Genes
1il-12469.4IL12B, IL12RB1
2deferoxamine46 1210.2STAT1, IFNGR1
3imiquimod46 62 30 1212.2IL12B, STAT1
4endotoxin469.1IL12B, STAT1
5polyinosinic-polycytidylic acid469.0IL12B, STAT1
6poly(i-c)468.8IL12B, STAT1
7gp 130468.7IL12RB1, IFNGR1, STAT1

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

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bcg and Salmonella Infection, Disseminated

About this section
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