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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:immunoglobulin alpha deficiency
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Accession:DOID:0060025 term browser browse the term
Definition:A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN A.
Synonyms:exact_synonym: IgA deficiencies;   IgA deficiency;   gamma-A-globulin deficiency
 primary_id: MESH:D017098
 alt_id: RDO:0001814
 xref: GARD:10197;   ORDO:69127
For additional species annotation, visit the Alliance of Genome Resources.


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immunoglobulin alpha deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27723758 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694011, PMID:27723758 NCBI chr10:5,002,196...5,196,914
Ensembl chr10:5,009,826...5,196,892
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNPs,haplotype: :rs231770,rs16840252,rs231775(human) RGD PMID:19020530 RGD:11344917 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Icos inducible T-cell co-stimulator susceptibility ISO DNA:SNPs,haplotype: :rs4521021,rs10172036(human) RGD PMID:19020530 RGD:11344917 NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694011, PMID:27723758 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
G Pvt1 Pvt1 oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:27723758 NCBI chr 7:102,648,394...102,871,316 JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:22291608, PMID:10931389 RGD:11041755, RGD:11041756 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISS OMIM:137100 | OMIM:269650 | OMIM:609529 MouseDO NCBI chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
JBrowse link
Immunoglobulin A Deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by OMIM:609529
ClinVar Annotator: match by term: Immunoglobulin A deficiency 2
OMIM
ClinVar
PMID:8072530, PMID:15077010, PMID:16007086, PMID:16007087, PMID:16299065, PMID:16630947, PMID:16782407, PMID:17192819, PMID:17392797, PMID:17392798, PMID:17464555, PMID:17492055, PMID:17917015, PMID:17947292, PMID:17983875, PMID:18496551, PMID:18509552, PMID:18981294, PMID:19210517, PMID:19392801, PMID:19605846, PMID:19629655, PMID:19779048, PMID:20006554, PMID:20156508, PMID:20889194, PMID:21419480, PMID:21458042, PMID:21547394, PMID:21850030, PMID:22076597, PMID:22627058, PMID:22697072, PMID:22699762, PMID:22884984, PMID:22983507, PMID:23237420, PMID:24033266, PMID:24051380, PMID:25174870, PMID:25326637, PMID:25741868, PMID:26100089, PMID:26122175, PMID:26727773, PMID:27123465, PMID:27577878, PMID:28492532, PMID:29114388, PMID:29146883, PMID:29555771, PMID:29867916, PMID:30311386 NCBI chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      primary immunodeficiency disease 2346
        B cell deficiency 88
          immunoglobulin alpha deficiency 8
            Gamma-A-Globulin, Defect in Assembly of 0
            Immunoglobulin A Deficiency 2 1
            Secretory Component Deficiency 0
            selective IgA deficiency disease 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Immune & Inflammatory Diseases 3506
        immune system disease 2926
          primary immunodeficiency disease 2346
            B cell deficiency 88
              selective immunoglobulin deficiency disease 29
                dysgammaglobulinemia 29
                  immunoglobulin alpha deficiency 8
                    Gamma-A-Globulin, Defect in Assembly of 0
                    Immunoglobulin A Deficiency 2 1
                    Secretory Component Deficiency 0
                    selective IgA deficiency disease 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.