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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 Recessive Dyskeratosis Congenita
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Accession:DOID:9004373 term browser browse the term
Synonyms:exact_synonym: recessive dyskeratosis congenita
 primary_id: MESH:C565611

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Autosomal Recessive Dyskeratosis Congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 NCBI chrNW_004936595:1,456,911...1,476,331
Ensembl chrNW_004936595:1,454,508...1,476,593 		JBrowse link
G Nhp2 NHP2 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936647:520,542...525,226
Ensembl chrNW_004936647:520,494...525,226 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 NCBI chrNW_004936673:2,829,599...2,830,407 JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 NCBI chrNW_004936595:1,483,688...1,499,716
Ensembl chrNW_004936595:1,483,689...1,501,364 		JBrowse link
G Slc12a6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chrNW_004936673:2,731,454...2,825,179
Ensembl chrNW_004936673:2,727,884...2,824,977 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		JBrowse link
G Wrap53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004936595:936,184...952,784
Ensembl chrNW_004936595:936,487...952,791 		JBrowse link
autosomal recessive dyskeratosis congenita 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhp2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 PMID:31681265 NCBI chrNW_004936647:520,542...525,226
Ensembl chrNW_004936647:520,494...525,226 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 OMIM
ClinVar		 PMID:17507419 PMID:20301779 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936673:2,829,599...2,830,407 JBrowse link
G Rmnd5b required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 NCBI chrNW_004936647:526,500...540,586
Ensembl chrNW_004936647:522,761...540,923 		JBrowse link
G Slc12a6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar NCBI chrNW_004936673:2,731,454...2,825,179
Ensembl chrNW_004936673:2,727,884...2,824,977 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar PMID:17785587 PMID:20301779 PMID:25741868 PMID:26887940 PMID:28192371 More... NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697 		JBrowse link
autosomal recessive dyskeratosis congenita 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhp2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 OMIM
ClinVar		 PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 NCBI chrNW_004936647:520,542...525,226
Ensembl chrNW_004936647:520,494...525,226 		JBrowse link
G Rmnd5b required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 ClinVar PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 NCBI chrNW_004936647:526,500...540,586
Ensembl chrNW_004936647:522,761...540,923 		JBrowse link
autosomal recessive dyskeratosis congenita 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 | ClinVar Annotator: match by term: WRAP53-related condition ClinVar PMID:17683073 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		JBrowse link
G Wrap53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 | ClinVar Annotator: match by term: WRAP53-related condition OMIM
ClinVar		 PMID:17683073 PMID:20301779 PMID:21205863 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936595:936,184...952,784
Ensembl chrNW_004936595:936,487...952,791 		JBrowse link
autosomal recessive dyskeratosis congenita 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita 4 ClinVar PMID:15814878 PMID:17785587 PMID:18042801 PMID:18635888 PMID:18753630 More... NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697 		JBrowse link
autosomal recessive dyskeratosis congenita 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfrp1 ADP ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar NCBI chrNW_004936514:10,956,111...10,964,756
Ensembl chrNW_004936514:10,955,829...10,964,762 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chrNW_004936586:2,200,211...2,272,781
Ensembl chrNW_004936586:2,200,205...2,273,307 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:23453664 PMID:23959892 PMID:25607374 PMID:28492532 NCBI chrNW_004936514:10,680,893...10,695,859
Ensembl chrNW_004936514:10,680,859...10,695,865 		JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chrNW_004936514:10,799,002...10,807,132
Ensembl chrNW_004936514:10,798,671...10,807,132 		JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chrNW_004936514:10,847,406...10,848,415
Ensembl chrNW_004936514:10,847,414...10,848,607 		JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chrNW_004936514:10,876,039...10,904,022
Ensembl chrNW_004936514:10,876,029...10,904,055 		JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chrNW_004936514:10,851,149...10,863,252
Ensembl chrNW_004936514:10,852,109...10,863,969 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chrNW_004936514:10,735,247...10,787,682
Ensembl chrNW_004936514:10,735,809...10,787,678 		JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chrNW_004936514:10,820,874...10,822,054
Ensembl chrNW_004936514:10,820,889...10,822,054 		JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chrNW_004936514:10,826,013...10,833,170
Ensembl chrNW_004936514:10,826,724...10,832,954 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 OMIM
ClinVar		 PMID:9536098 PMID:14534157 PMID:16199547 PMID:17576681 PMID:19461895 More... NCBI chrNW_004936514:10,920,979...10,954,483
Ensembl chrNW_004936514:10,922,322...10,954,402 		JBrowse link
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chrNW_004936514:10,835,931...10,843,303
Ensembl chrNW_004936514:10,836,156...10,843,303 		JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chrNW_004936514:10,910,444...10,914,676
Ensembl chrNW_004936514:10,906,732...10,912,960 		JBrowse link
autosomal recessive dyskeratosis congenita 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Parn poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6 OMIM
ClinVar		 PMID:9536098 PMID:9736620 PMID:16199547 PMID:17576681 PMID:22834816 More... NCBI chrNW_004936501:2,666,908...2,810,159
Ensembl chrNW_004936501:2,666,874...2,810,488 		JBrowse link
Autosomal Recessive Dyskeratosis Congenita 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acd ACD shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7 ClinVar PMID:25205116 PMID:25233904 PMID:25741868 PMID:27807141 PMID:28492532 More... NCBI chrNW_004936475:18,049,134...18,052,123
Ensembl chrNW_004936475:18,045,662...18,052,172 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6281
      skin disease 3576
        Genetic Skin Diseases 1737
          dyskeratosis congenita 315
            Autosomal Recessive Dyskeratosis Congenita 24
              Autosomal Recessive Dyskeratosis Congenita 7 1
              Autosomal Recessive Dyskeratosis Congenita 8 0
              autosomal recessive dyskeratosis congenita 1 5
              autosomal recessive dyskeratosis congenita 2 2
              autosomal recessive dyskeratosis congenita 3 2
              autosomal recessive dyskeratosis congenita 4 1
              autosomal recessive dyskeratosis congenita 5 13
              autosomal recessive dyskeratosis congenita 6 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Neurologic Manifestations 9046
          sensory system disease 6281
            skin disease 3576
              Genetic Skin Diseases 1737
                dyskeratosis congenita 315
                  Autosomal Recessive Dyskeratosis Congenita 24
                    Autosomal Recessive Dyskeratosis Congenita 7 1
                    Autosomal Recessive Dyskeratosis Congenita 8 0
                    autosomal recessive dyskeratosis congenita 1 5
                    autosomal recessive dyskeratosis congenita 2 2
                    autosomal recessive dyskeratosis congenita 3 2
                    autosomal recessive dyskeratosis congenita 4 1
                    autosomal recessive dyskeratosis congenita 5 13
                    autosomal recessive dyskeratosis congenita 6 1
paths to the root