MCID: RCM002
MIFTS: 14

Recombinase Activating Gene 1 Deficiency

Categories: Immune diseases

Aliases & Classifications for Recombinase Activating Gene 1 Deficiency

MalaCards integrated aliases for Recombinase Activating Gene 1 Deficiency:

Name: Recombinase Activating Gene 1 Deficiency 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060011

Summaries for Recombinase Activating Gene 1 Deficiency

Disease Ontology : 12 A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.

MalaCards based summary : Recombinase Activating Gene 1 Deficiency is related to combined cellular and humoral immune defects with granulomas and severe combined immunodeficiency. An important gene associated with Recombinase Activating Gene 1 Deficiency is RAG1 (Recombination Activating 1), and among its related pathways/superpathways are FoxO signaling pathway and Primary immunodeficiency.

Related Diseases for Recombinase Activating Gene 1 Deficiency

Graphical network of the top 20 diseases related to Recombinase Activating Gene 1 Deficiency:



Diseases related to Recombinase Activating Gene 1 Deficiency

Symptoms & Phenotypes for Recombinase Activating Gene 1 Deficiency

Drugs & Therapeutics for Recombinase Activating Gene 1 Deficiency

Search Clinical Trials , NIH Clinical Center for Recombinase Activating Gene 1 Deficiency

Genetic Tests for Recombinase Activating Gene 1 Deficiency

Anatomical Context for Recombinase Activating Gene 1 Deficiency

Publications for Recombinase Activating Gene 1 Deficiency

Articles related to Recombinase Activating Gene 1 Deficiency:

# Title Authors PMID Year
1
Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency. 61
22424479 2012

Variations for Recombinase Activating Gene 1 Deficiency

Expression for Recombinase Activating Gene 1 Deficiency

Search GEO for disease gene expression data for Recombinase Activating Gene 1 Deficiency.

Pathways for Recombinase Activating Gene 1 Deficiency

Pathways related to Recombinase Activating Gene 1 Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.29 RAG2 RAG1
2 10.54 RAG2 RAG1
3 10.07 RAG2 RAG1

GO Terms for Recombinase Activating Gene 1 Deficiency

Cellular components related to Recombinase Activating Gene 1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA recombinase complex GO:0097519 8.62 RAG2 RAG1

Biological processes related to Recombinase Activating Gene 1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.37 RAG2 RAG1
2 DNA recombination GO:0006310 9.32 RAG2 RAG1
3 B cell differentiation GO:0030183 9.26 RAG2 RAG1
4 T cell differentiation in thymus GO:0033077 9.16 RAG2 RAG1
5 V(D)J recombination GO:0033151 8.96 RAG2 RAG1
6 pre-B cell allelic exclusion GO:0002331 8.62 RAG2 RAG1

Molecular functions related to Recombinase Activating Gene 1 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.96 RAG2 RAG1
2 ubiquitin protein ligase activity GO:0061630 8.62 RAG2 RAG1

Sources for Recombinase Activating Gene 1 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....