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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:nuclear type mitochondrial complex I deficiency 21
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Accession:DOID:0112088 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NUBPL on chromosome 14q12. (DO)
Synonyms:exact_synonym: MC1DN21
 primary_id: OMIM:618242
 alt_id: DOID:9009271
For additional species annotation, visit the Alliance of Genome Resources.


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nuclear type mitochondrial complex I deficiency 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtd2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar PMID:20818383, PMID:22072591 NCBI chr 6:72,781,229...72,786,835
Ensembl chr 6:72,780,543...72,786,830
JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar PMID:20818383, PMID:22072591 NCBI chr 6:72,804,843...72,805,848
Ensembl chr 6:72,804,843...72,805,848
JBrowse link
G Heatr5a HEAT repeat containing 5A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar PMID:20818383, PMID:22072591 NCBI chr 6:72,648,654...72,750,202
Ensembl chr 6:72,648,662...72,750,170
JBrowse link
G Nubpl nucleotide binding protein-like ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar
OMIM
PMID:10214753, PMID:12805096, PMID:15576045, PMID:18497740, PMID:19336460, PMID:19752196, PMID:20818383, PMID:21766414, PMID:22072591, PMID:22499348, PMID:22826544, PMID:22972949, PMID:23553477, PMID:23828044, PMID:24088041, PMID:25741868, PMID:26633545, PMID:31917109 NCBI chr 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        mitochondrial metabolism disease 345
          mitochondrial complex I deficiency 62
            nuclear type mitochondrial complex I deficiency 48
              nuclear type mitochondrial complex I deficiency 21 4
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            mitochondrial metabolism disease 345
              mitochondrial complex I deficiency 62
                nuclear type mitochondrial complex I deficiency 48
                  nuclear type mitochondrial complex I deficiency 21 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.