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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:GRN-related frontotemporal lobar degeneration with TDP43 inclusions
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Accession:DOID:0060672 term browser browse the term
Definition:A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31. (DO)
Synonyms:exact_synonym: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, GRN-RELATED;   FTDU;   FTLD-TDP, GRN-related;   FTLDU;   Frontotemporal Lobar Degeneration With Ubiquitin Positive Inclusions;   Ubiquitin-Positive Frontotemporal Dementia
 narrow_synonym: HDDD aphasia, primary progressive;   PPA;   hereditary dysphasic disinhibition dementia
 primary_id: OMIM:607485
 alt_id: RDO:0009112
 xref: ICD10CM:G31.0;   ORDO:282
For additional species annotation, visit the Alliance of Genome Resources.


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GRN-related frontotemporal lobar degeneration with TDP43 inclusions term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asb16 ankyrin repeat and SOCS box-containing 16 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,217,979...90,224,984
Ensembl chr10:90,217,924...90,226,537
JBrowse link
G Atxn7l3 ataxin 7-like 3 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,234,749...90,241,757
Ensembl chr10:90,236,928...90,240,509
JBrowse link
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,134,193...90,138,425
Ensembl chr10:90,134,193...90,138,425
JBrowse link
G Grn granulin precursor ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar Annotator: match by term: Frontotemporal dementia, ubiquitin-positive
ClinVar Annotator: match by OMIM:607485
ClinVar
OMIM
PMID:6497355, PMID:9152110, PMID:9259373, PMID:9633693, PMID:12476321, PMID:16401619, PMID:16495329, PMID:16862115, PMID:16862116, PMID:16950801, PMID:16983677, PMID:16983685, PMID:17071927, PMID:17202431, PMID:17210807, PMID:17228326, PMID:17334266, PMID:17345602, PMID:17371905, PMID:17436289, PMID:17439980, PMID:17522386, PMID:17620546, PMID:17698705, PMID:17826340, PMID:17923627, PMID:17949857, PMID:17984093, PMID:18183624, PMID:18184915, PMID:18192287, PMID:18223198, PMID:18234697, PMID:18245784, PMID:18314228, PMID:18322394, PMID:18392865, PMID:18413474, PMID:18464284, PMID:18543312, PMID:18551524, PMID:18565828, PMID:18703462, PMID:18723524, PMID:18752597, PMID:18838661, PMID:18855025, PMID:19012866, PMID:19158106, PMID:19288468, PMID:19632744, PMID:19649643, PMID:19683260, PMID:19766663, PMID:19858458, PMID:19884572, PMID:20020531, PMID:20028451, PMID:20045477, PMID:20087814, PMID:20142524, PMID:20142525, PMID:20301545, PMID:20522652, PMID:21403024, PMID:21454553, PMID:21482928, PMID:21569259, PMID:21800185, PMID:22312439, PMID:22366795, PMID:22491866, PMID:22608501, PMID:22647257, PMID:22781549, PMID:22906081, PMID:22995991, PMID:23338682, PMID:23463024, PMID:23624518, PMID:23684369, PMID:23724906, PMID:23742080, PMID:23759146, PMID:23813535, PMID:23990795, PMID:24022032, PMID:24503614, PMID:24703252, PMID:25104557, PMID:25741868, PMID:26075876, PMID:26159191, PMID:26467025, PMID:26652843, PMID:26791154, PMID:26811050, PMID:27082848, PMID:27258413, PMID:27311648, PMID:27341800, PMID:27632209, PMID:27790088, PMID:27884173, PMID:27997711, PMID:28000352, PMID:28264768, PMID:28473694, PMID:28492532, PMID:29339765, PMID:30279455, PMID:19649643 RGD:5509604 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Hdac5 histone deacetylase 5 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,140,183...90,169,853
Ensembl chr10:90,140,183...90,151,042
JBrowse link
G Hrob homologous recombination factor with OB-fold ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,192,608...90,214,486
Ensembl chr10:90,192,627...90,214,486
JBrowse link
G Lsm12 LSM12 homolog ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,105,562...90,127,600
Ensembl chr10:90,105,562...90,127,600
JBrowse link
G Rundc3a RUN domain containing 3A ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,342,033...90,351,172
Ensembl chr10:90,342,051...90,351,170
JBrowse link
G Slc25a39 solute carrier family 25, member 39 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,351,899...90,356,905
Ensembl chr10:90,351,900...90,356,242
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Tardbp TAR DNA binding protein ISS OMIM:607485 MouseDO NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tmub2 transmembrane and ubiquitin-like domain containing 2 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,230,428...90,234,874
Ensembl chr10:90,230,441...90,234,873
JBrowse link
G Ubtf upstream binding transcription factor ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,250,275...90,265,772
Ensembl chr10:90,250,275...90,265,017
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Diseases of the Aged 1249
      dementia 670
        Frontotemporal Lobar Degeneration 61
          GRN-related frontotemporal lobar degeneration with TDP43 inclusions 13
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              cognitive disorder 1915
                dementia 670
                  Frontotemporal Lobar Degeneration 61
                    frontotemporal dementia 56
                      GRN-related frontotemporal lobar degeneration with TDP43 inclusions 13
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.