ONTOLOGY REPORT - ANNOTATIONS


Term:Mitochondrial Complex I Deficiency, Nuclear Type 20
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Accession:DOID:9002076 term browser browse the term
Synonyms:exact_synonym: ACAD9 DEFICIENCY;   ACYL-CoA DEHYDROGENASE 9 DEFICIENCY;   Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of;   mitochondrial complex I deficiency due to ACAD9 deficiency
 primary_id: MESH:C567006
 alt_id: OMIM:611126;   RDO:0015196
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Mitochondrial Complex I Deficiency, Nuclear Type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acad9 acyl-CoA dehydrogenase family, member 9 JBrowse link 2 122,782,051 122,806,166 RGD:7240710
RGD:8554872
G Bard1 BRCA1 associated RING domain 1 JBrowse link 9 78,297,723 78,368,777 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G LOC100362908 hCG20001-like JBrowse link 4 119,572,669 119,626,852 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Nxpe3 neurexophilin and PC-esterase domain family, member 3 JBrowse link 11 47,188,332 47,238,372 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Vps13b vacuolar protein sorting 13 homolog B JBrowse link 7 74,118,834 74,722,341 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Pathological Conditions, Signs and Symptoms 7362
      Pathologic Processes 4865
        Muscle Weakness 79
          Mitochondrial Complex I Deficiency, Nuclear Type 20 10
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      cardiovascular system disease 4056
        heart disease 2226
          heart valve disease 329
            aortic valve disease 244
              aortic valve stenosis 224
                subvalvular aortic stenosis 185
                  hypertrophic cardiomyopathy 184
                    Mitochondrial Complex I Deficiency, Nuclear Type 20 10
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.