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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:autosomal dominant dyskeratosis congenita 1
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Accession:DOID:0070014 term browser browse the term
Definition:A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. (DO)
Synonyms:exact_synonym: DKCA1;   Dyskeratosis Congenita, Scoggins Type
 broad_synonym: TERC-RELATED CONDITION
 xref: MIM:127550;   MONDO:0007485


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autosomal dominant dyskeratosis congenita 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt3 actin-related protein T3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,799,038...112,801,065
Ensembl chr 2:114,727,534...114,729,563 		JBrowse link
G Gpr160 G protein-coupled receptor 160 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,483,364...112,563,072
Ensembl chr 2:114,410,261...114,474,790 		JBrowse link
G Inpp4a inositol polyphosphate-4-phosphatase type I A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:15849264 PMID:21931702 PMID:25741868 NCBI chr 9:47,024,064...47,142,391
Ensembl chr 9:47,087,471...47,135,968 		JBrowse link
G Lrrc31 leucine rich repeat containing 31 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,702,844...112,725,431
Ensembl chr 2:114,631,136...114,652,269 		JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:114,680,787...114,702,961
Ensembl chr 2:114,680,094...114,702,961 		JBrowse link
G Lrriq4 leucine-rich repeats and IQ motif containing 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:112,729,298...112,756,338
Ensembl chr 2:114,657,919...114,683,738 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:25741868 PMID:27192671 NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:114,837,840...115,393,038 		JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:114,708,150...114,726,450
Ensembl chr 2:114,708,156...114,725,452 		JBrowse link
G Phc3 polyhomeotic homolog 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:114,337,180...114,412,132
Ensembl chr 2:114,337,227...114,405,816 		JBrowse link
G Prkci protein kinase C, iota ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:114,250,398...114,310,784
Ensembl chr 2:114,250,398...114,310,784 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita Scoggins type | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29344583 More... NCBI chr 3:188,778,329...188,842,877
Ensembl chr 3:188,807,951...188,843,709 		JBrowse link
G Samd7 sterile alpha motif domain containing 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:114,551,633...114,572,774
Ensembl chr 2:114,551,640...114,572,774 		JBrowse link
G Sec62 SEC62 homolog, preprotein translocation factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:114,499,317...114,526,705
Ensembl chr 2:114,499,317...114,530,321 		JBrowse link
G Skil SKI-like proto-oncogene ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 2:114,175,534...114,203,663
Ensembl chr 2:114,175,534...114,201,974 		JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Dyskeratosis congenita Scoggins type | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 | ClinVar Annotator: match by term: TERC-related condition OMIM
ClinVar		 PMID:10721988 PMID:11574891 PMID:12090986 PMID:12676774 PMID:12972604 More... NCBI chr 2:114,744,148...114,744,535 JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita Scoggins type | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:12167716 PMID:15814878 PMID:15885610 PMID:16247010 PMID:16627250 More... NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 More... NCBI chr15:33,160,985...33,175,632
Ensembl chr15:33,160,987...33,174,463 		JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita Scoggins type | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:18252230 PMID:18669893 PMID:19090550 PMID:20301779 PMID:21199492 More... NCBI chr15:33,140,611...33,146,930
Ensembl chr15:33,140,714...33,146,930 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      skin disease 4336
        Genetic Skin Diseases 1865
          dyskeratosis congenita 332
            Autosomal Dominant Dyskeratosis Congenita 158
              autosomal dominant dyskeratosis congenita 1 18
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              Genetic Skin Diseases 1865
                dyskeratosis congenita 332
                  Autosomal Dominant Dyskeratosis Congenita 158
                    autosomal dominant dyskeratosis congenita 1 18
paths to the root