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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
 primary_id: OMIM:127550


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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 3:166,780,316...166,783,758
Ensembl chr 3:174,834,118...174,837,345 		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 3:167,051,899...167,098,721
Ensembl chr 3:175,288,047...175,289,063 		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 chr2A:100,720,587...100,867,228
Ensembl chr2A:99,428,904...99,499,350 		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 3:166,852,946...166,886,355 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 3:166,807,315...166,826,740
Ensembl chr 3:174,860,946...174,880,319 		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 3:166,826,765...166,851,766
Ensembl chr 3:174,880,261...174,905,120 		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 3:166,099,530...166,677,739
Ensembl chr 3:174,154,814...174,731,252 		JBrowse link
G MYNN myoneurin ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 3:166,786,529...166,802,362
Ensembl chr 3:174,840,394...174,856,661 		JBrowse link
G PHC3 polyhomeotic homolog 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 3:167,100,797...167,194,987
Ensembl chr 3:175,291,594...175,384,905 		JBrowse link
G PRKCI protein kinase C iota ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 3:167,237,093...167,320,522
Ensembl chr 3:175,426,774...175,510,072 		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... Ensembl chr20:61,581,331...61,618,718 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 3:166,914,164...166,952,937
Ensembl chr 3:174,980,176...175,007,421 		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 3:166,980,212...167,010,455
Ensembl chr 3:175,034,739...175,064,902 		JBrowse link
G SKIL SKI like proto-oncogene ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr 3:167,372,104...167,411,287
Ensembl chr 3:175,562,007...175,600,181 		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:15885610 PMID:16247010 PMID:18042801 PMID:18635888 More... Ensembl chr 5:1,300,960...1,338,872 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 chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:18252230 PMID:18669893 PMID:19090550 PMID:20301779 PMID:21199492 More... NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6624
      skin disease 3772
        Genetic Skin Diseases 1835
          dyskeratosis congenita 326
            Autosomal Dominant Dyskeratosis Congenita 152
              autosomal dominant dyskeratosis congenita 1 17
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6624
            skin disease 3772
              Genetic Skin Diseases 1835
                dyskeratosis congenita 326
                  Autosomal Dominant Dyskeratosis Congenita 152
                    autosomal dominant dyskeratosis congenita 1 17
paths to the root