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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:immunodeficiency 12
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Accession:DOID:0111988 term browser browse the term
Definition:A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in MALT1 on chromosome 18q21.32. (DO)
Synonyms:exact_synonym: IMD12;   combined immunodeficiency due to MALT1 deficiency
 primary_id: OMIM:615468
 xref: ORDO:397964
For additional species annotation, visit the Alliance of Genome Resources.



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immunodeficiency 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk2 alpha-kinase 2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:23727036 PMID:25627829 PMID:28492532 NCBI chr18:58,775,603...58,906,150
Ensembl chr18:58,775,605...58,906,258
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:23727036 PMID:25627829 PMID:28492532 NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:23727036 PMID:25627829 PMID:28492532 NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400
JBrowse link
G Cplx4 complexin 4 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:23727036 PMID:25627829 PMID:28492532 NCBI chr18:59,481,360...59,504,716
Ensembl chr18:59,481,986...59,497,778
JBrowse link
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:23727036 PMID:25627829 PMID:28492532 NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
JBrowse link
G Grp gastrin releasing peptide ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:23727036 PMID:25627829 PMID:28492532 NCBI chr18:59,388,679...59,402,061
Ensembl chr18:59,388,274...59,402,061
JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:23727036 PMID:25627829 PMID:28492532 NCBI chr18:59,508,996...59,530,873
Ensembl chr18:59,508,996...59,530,851
JBrowse link
G Malt1 MALT1 paracaspase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr18:58,942,282...58,996,318
Ensembl chr18:58,942,299...58,994,260
JBrowse link
G Mc4r melanocortin 4 receptor ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:23727036 PMID:25627829 PMID:28492532 NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
JBrowse link
G Mir122 microRNA 122 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:23727036 PMID:25627829 PMID:28492532 NCBI chr18:58,758,703...58,758,787 JBrowse link
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:23727036 PMID:25627829 PMID:28492532 NCBI chr18:57,989,308...58,005,639
Ensembl chr18:57,989,308...58,005,622
JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:23727036 PMID:25627829 PMID:28492532 NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
JBrowse link
G Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:23727036 PMID:25627829 PMID:28492532 NCBI chr18:59,986,187...59,990,174
Ensembl chr18:59,986,017...59,992,429
JBrowse link
G Rax retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:23727036 PMID:25627829 PMID:28492532 NCBI chr18:59,463,737...59,467,431
Ensembl chr18:59,463,737...59,467,431
JBrowse link
G Sec11c SEC11 homolog C, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:23727036 PMID:25627829 PMID:28492532 NCBI chr18:59,320,932...59,337,272
Ensembl chr18:59,320,884...59,337,364
JBrowse link
G Zfp532 zinc finger protein 532 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:23727036 PMID:25627829 PMID:28492532 NCBI chr18:59,080,082...59,203,672
Ensembl chr18:59,092,789...59,203,666
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      primary immunodeficiency disease 3717
        combined immunodeficiency 712
          immunodeficiency 12 16
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                immunodeficiency 12 16
paths to the root