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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
 xref: ICD10CM:G31.0


show annotations for term's descendants           Sort by:
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 IAGP ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,170,704...44,179,084
Ensembl chr17:44,170,447...44,179,084 		JBrowse link
G ATXN7L3 ataxin 7 like 3 IAGP ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,191,805...44,199,884
Ensembl chr17:44,191,805...44,200,113 		JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151 		JBrowse link
G GRN granulin precursor IEP
IAGP
ISS
EXP		 ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
OMIM:607485
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:6497355 PMID:9152110 PMID:9259373 PMID:9536098 PMID:9633693 More... RGD:5509604 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G HDAC5 histone deacetylase 5 IAGP ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,076,753...44,123,641
Ensembl chr17:44,076,746...44,123,702 		JBrowse link
G HROB homologous recombination factor with OB-fold IAGP ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,141,930...44,162,476
Ensembl chr17:44,141,906...44,162,476 		JBrowse link
G LOC125177489 Sharpr-MPRA regulatory region 15390 IAGP ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:6497355 PMID:9536098 PMID:16199547 PMID:16862116 PMID:16950801 More... NCBI chr17:44,350,781...44,351,075 JBrowse link
G LSM12 LSM12 homolog IAGP ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,034,328...44,067,587
Ensembl chr17:44,034,328...44,067,619 		JBrowse link
G RUNDC3A RUN domain containing 3A IAGP ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,308,601...44,318,670
Ensembl chr17:44,308,413...44,318,670 		JBrowse link
G SLC25A39 solute carrier family 25 member 39 IAGP ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,319,628...44,324,823
Ensembl chr17:44,319,625...44,324,870 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G TMUB2 transmembrane and ubiquitin like domain containing 2 IAGP ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,186,972...44,191,929
Ensembl chr17:44,186,970...44,191,929 		JBrowse link
G UBTF upstream binding transcription factor IAGP ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr17:44,205,040...44,221,304
Ensembl chr17:44,205,033...44,221,626 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Diseases of the Aged 1456
      dementia 965
        Frontotemporal Lobar Degeneration 192
          frontotemporal dementia 189
            GRN-related frontotemporal lobar degeneration with TDP43 inclusions 13
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            disease of mental health 17210
              cognitive disorder 5504
                dementia 965
                  Frontotemporal Lobar Degeneration 192
                    frontotemporal dementia 189
                      GRN-related frontotemporal lobar degeneration with TDP43 inclusions 13
paths to the root