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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: OMIM: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 ADP ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar Ensembl chr20:61,622,386...61,630,949 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 chr2B:101,984,287...102,068,523
Ensembl chr2B:220,456,972...220,541,145 		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 chr20:59,730,759...59,748,678
Ensembl chr20:61,270,631...61,283,005 		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... Ensembl chr20:61,412,122...61,421,735 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... Ensembl chr20:61,481,269...61,482,225 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... Ensembl chr20:61,513,870...61,544,993 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... Ensembl chr20:61,483,623...61,498,083 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... Ensembl chr20:61,325,365...61,395,266 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... Ensembl chr20:61,446,522...61,447,653 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... Ensembl chr20:61,453,386...61,462,951 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... Ensembl chr20:61,581,331...61,618,718 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... Ensembl chr20:61,465,539...61,473,057 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...
G TNFRSF6B TNF receptor superfamily member 6b ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:23453664 PMID:23729807 PMID:23959892 PMID:24009516 PMID:24033266 More... Ensembl chr20:61,618,321...61,621,611 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 Recessive Dyskeratosis Congenita 26
              autosomal recessive dyskeratosis congenita 5 14
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 Recessive Dyskeratosis Congenita 26
                    autosomal recessive dyskeratosis congenita 5 14
paths to the root