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autosomal recessive dyskeratosis congenita 5 - Ontology Report - Rat Genome Database

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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 5
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Accession:DOID:0070022 term browser browse the term
Definition:A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. (DO)
Synonyms:exact_synonym: DKCB5
 primary_id: MIM:615190

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autosomal recessive dyskeratosis congenita 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfrp1 ARF related protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar NCBI chr 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914 		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 chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957 		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 chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071 		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 chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617 		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 chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788 		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 chr 3:188,716,370...188,730,776
Ensembl chr 3:168,338,813...168,353,159 		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 chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		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 chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036 		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 chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664 		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 chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		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 chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915 		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 chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:25741868 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:22772368 PMID:23102774 PMID:25326637 PMID:25741868 PMID:26854089 More... NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    sensory system disease 7373
      skin disease 4308
        Genetic Skin Diseases 1869
          dyskeratosis congenita 331
            Autosomal Recessive Dyskeratosis Congenita 25
              autosomal recessive dyskeratosis congenita 5 14
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        Neurologic Manifestations 10461
          sensory system disease 7373
            skin disease 4308
              Genetic Skin Diseases 1869
                dyskeratosis congenita 331
                  Autosomal Recessive Dyskeratosis Congenita 25
                    autosomal recessive dyskeratosis congenita 5 14
paths to the root