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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 the MALT1 gene on chromosome 18q21.32. (DO)
Synonyms:exact_synonym: IMD12;   combined immunodeficiency due to MALT1 deficiency
 primary_id: MIM:615468
 xref: ORDO:397964


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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:28492532 NCBI chr18:61,045,717...61,161,703
Ensembl chr18:61,045,380...61,175,985 		JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:60,286,605...60,427,862
Ensembl chr18:60,288,464...60,427,027 		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:28492532 NCBI chr18:61,849,821...62,093,876
Ensembl chr18:61,853,149...62,094,075 		JBrowse link
G Cplx4 complexin 4 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:59,481,360...59,504,716
Ensembl chr18:61,750,990...61,767,754 		JBrowse link
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:60,215,325...60,248,525
Ensembl chr18:60,215,325...60,249,546 		JBrowse link
G Grp gastrin releasing peptide ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:61,658,655...61,672,037
Ensembl chr18:61,658,250...61,672,037 		JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:61,778,971...61,800,960
Ensembl chr18:61,772,917...61,800,820 		JBrowse link
G Malt1 MALT1 paracaspase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency | ClinVar Annotator: match by term: Immunodeficiency 12 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr18:61,212,290...61,266,272
Ensembl chr18:61,212,317...61,266,272 		JBrowse link
G Mc4r melanocortin 4 receptor ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:62,689,798...62,691,685 JBrowse link
G Mir122 microRNA 122 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:61,028,817...61,028,901 JBrowse link
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:60,259,506...60,275,782
Ensembl chr18:60,259,516...60,275,782 		JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:60,663,918...60,996,824
Ensembl chr18:60,663,970...60,996,824 		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:28492532 NCBI chr18:62,255,970...62,262,384
Ensembl chr18:62,255,598...62,262,382 		JBrowse link
G Rax retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:59,463,347...59,467,469
Ensembl chr18:61,733,322...61,737,444 		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:28492532 NCBI chr18:59,320,932...59,337,272
Ensembl chr18:61,590,885...61,607,348 		JBrowse link
G Zfp532 zinc finger protein 532 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:59,080,082...59,203,672
Ensembl chr18:61,364,378...61,473,649 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      primary immunodeficiency disease 4502
        combined immunodeficiency 950
          immunodeficiency 12 16
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                immunodeficiency 12 16
paths to the root