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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 1
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Accession:DOID:0112074 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS4 on chromosome 5q11.2. (DO)
Synonyms:exact_synonym: MC1DN1
 primary_id: OMIM:252010
For additional species annotation, visit the Alliance of Genome Resources.


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nuclear type mitochondrial complex I deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr13:89,622,996...89,632,485
Ensembl chr13:89,622,632...89,634,419
JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:22200994 PMID:23757202 PMID:24033266 PMID:25741868 PMID:25803036 PMID:28492532 PMID:28654958 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Mrpl36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr 1:31,261,370...31,264,715
Ensembl chr 1:31,261,370...31,262,466
Ensembl chr 1:31,261,370...31,262,466
JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:99,617,051...99,651,827
Ensembl chr 9:99,617,052...99,651,813
JBrowse link
G Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:10,334,104...10,338,163
Ensembl chr 9:10,334,090...10,338,216
JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:29,585,671...29,587,760
Ensembl chr18:29,585,671...29,587,760
JBrowse link
G Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:111,458,227...111,469,239
Ensembl chr 3:111,458,572...111,469,518
JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:16200211 PMID:25326635 PMID:25741868 PMID:26795593 PMID:28492532 NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560
JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:28492532 NCBI chr 8:117,351,628...117,353,460
Ensembl chr 8:117,351,629...117,353,672
JBrowse link
G Ndufaf4 NADH:ubiquinone oxidoreductase complex assembly factor 4 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:28492532 NCBI chr 5:39,251,370...39,256,542
Ensembl chr 5:39,251,337...39,257,512
JBrowse link
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973
JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:25772934 NCBI chr  X:1,787,266...1,789,524
Ensembl chr  X:1,787,266...1,789,524
JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:22277967 PMID:25741868 NCBI chr 9:65,478,496...65,488,708
Ensembl chr 9:65,478,496...65,488,702
JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:22200994 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398
JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:28492532 NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879
JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar
OMIM
PMID:9463323 PMID:10944442 PMID:11181577 PMID:12616398 PMID:12944388 PMID:17383918 PMID:19107570 PMID:19364667 PMID:20818383 PMID:24020637 PMID:25741868 PMID:28492532 NCBI chr 2:46,372,488...46,476,162
Ensembl chr 2:46,372,518...46,476,203
JBrowse link
G Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:28492532 NCBI chr 2:26,471,173...26,471,587
Ensembl chr 2:26,471,173...26,471,584
JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:28492532 NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392
JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:20818383 PMID:24595071 PMID:25741868 PMID:28492532 NCBI chr 1:219,141,289...219,144,610
Ensembl chr 1:219,141,292...219,144,610
JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:10080174 PMID:11349233 PMID:19073330 PMID:23562761 PMID:24642831 PMID:25741868 PMID:26345448 PMID:28492532 NCBI chr 1:219,254,293...219,259,328
Ensembl chr 1:219,254,279...219,259,448
JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:9570948 PMID:28492532 NCBI chr 9:113,875,718...113,900,169
Ensembl chr 9:113,875,703...113,900,190
JBrowse link
G Nubpl nucleotide binding protein-like ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464
JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 ClinVar NCBI chr18:29,579,145...29,585,740
Ensembl chr18:29,579,145...29,585,740
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Nutritional and Metabolic Diseases 4702
      disease of metabolism 4702
        mitochondrial metabolism disease 349
          mitochondrial complex I deficiency 60
            nuclear type mitochondrial complex I deficiency 47
              nuclear type mitochondrial complex I deficiency 1 27
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          inherited metabolic disorder 2233
            mitochondrial metabolism disease 349
              mitochondrial complex I deficiency 60
                nuclear type mitochondrial complex I deficiency 47
                  nuclear type mitochondrial complex I deficiency 1 27
paths to the root