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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:Imerslund-Grasbeck Syndrome
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Accession:DOID:9006825 term browser browse the term
Synonyms:exact_synonym: IGS
 xref: OMIM:PS261100


show annotations for term's descendants           Sort by:
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMN amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More...
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:44,321,954...44,887,410
Ensembl chr10:44,421,485...44,886,425 		JBrowse link
G CDC42BPB CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More...
G CUBN cubilin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr10:43,102,931...43,414,692
Ensembl chr10:43,102,946...43,414,758 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:43,901,590...43,929,441
Ensembl chr10:43,897,162...43,929,409 		JBrowse link
G SLC39A12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:44,239,279...44,320,974
Ensembl chr10:44,239,274...44,320,971 		JBrowse link
G ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:43,601,677...43,755,154
Ensembl chr10:43,602,908...43,755,277 		JBrowse link
G STAM signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:43,946,990...44,016,064
Ensembl chr10:43,947,011...44,016,056 		JBrowse link
G TRAF3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532
G TRDMT1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:43,434,148...43,494,924
Ensembl chr10:43,434,444...43,493,892 		JBrowse link
G VIM vimentin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170 		JBrowse link
Imerslund-Grasbeck Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMN amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type ClinVar PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More...
G CBLIF cobalamin binding intrinsic factor ISO DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine:		 RGD PMID:10435666 PMID:15738392 RGD:11049583 RGD:11049586 NCBI chr 2:11,655,726...11,674,357
Ensembl chr 2:11,655,767...11,674,302 		JBrowse link
G CDC42BPB CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More...
G CUBN cubilin ISO ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type OMIM
ClinVar		 PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr10:43,102,931...43,414,692
Ensembl chr10:43,102,946...43,414,758 		JBrowse link
Imerslund-Grasbeck Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMN amnion associated transmembrane protein ISO ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type OMIM
ClinVar		 PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More...
G CDC42BPB CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More...
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      Malabsorption Syndromes 201
        Imerslund-Grasbeck Syndrome 12
          Imerslund-Grasbeck Syndrome 1 4
          Imerslund-Grasbeck Syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 17412
    Nutritional and Metabolic Diseases 7080
      disease of metabolism 7080
        acquired metabolic disease 2258
          nutrition disease 869
            Malnutrition 319
              nutritional deficiency disease 304
                Avitaminosis 198
                  Vitamin B Deficiency 151
                    vitamin B12 deficiency 30
                      Imerslund-Grasbeck Syndrome 12
                        Imerslund-Grasbeck Syndrome 1 4
                        Imerslund-Grasbeck Syndrome 2 2
paths to the root