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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type X
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Accession:DOID:0050542 term browser browse the term
Definition:A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. (DO)
Synonyms:exact_synonym: Charcot-Marie-Tooth neuropathy X;   Charcot-Marie-Tooth, X-linked
 primary_id: RDO:9002812
 xref: ORDO:64747
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease type X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIFM1 apoptosis inducing factor mitochondria associated 1 JBrowse link X 101,275,027 101,307,551 RGD:9068941
G GJB1 gap junction protein beta 1 JBrowse link X 55,565,995 55,575,332 RGD:9068941
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 81,150,537 81,171,521 RGD:9068941
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 101,311,752 101,322,825 RGD:9068941
Charcot-Marie-Tooth disease X-linked dominant 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB1 gap junction protein beta 1 JBrowse link X 55,565,995 55,575,332 RGD:7240710
RGD:9068941
Charcot-Marie-Tooth disease X-linked dominant 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDK3 pyruvate dehydrogenase kinase 3 JBrowse link X 19,994,383 20,058,979 RGD:7240710
RGD:9068941
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIFM1 apoptosis inducing factor mitochondria associated 1 JBrowse link X 101,275,027 101,307,551 RGD:7240710
RGD:9068941
G RAB33A RAB33A, member RAS oncogene family JBrowse link X 101,311,752 101,322,825 RGD:9068941
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 81,150,537 81,171,521 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12065
    disease of anatomical entity 11668
      musculoskeletal system disease 3822
        neuromuscular disease 1508
          Charcot-Marie-Tooth disease 309
            Charcot-Marie-Tooth disease type X 5
              Charcot-Marie-Tooth disease X-linked dominant 1 1
              Charcot-Marie-Tooth disease X-linked dominant 6 1
              Charcot-Marie-Tooth disease X-linked recessive 2 0
              Charcot-Marie-Tooth disease X-linked recessive 3 0
              Charcot-Marie-Tooth disease X-linked recessive 4 2
              Charcot-Marie-Tooth disease X-linked recessive 5 1
Path 2
Term Annotations click to browse term
  disease 12065
    disease of anatomical entity 11668
      nervous system disease 9327
        central nervous system disease 7698
          neurodegenerative disease 2767
            Nervous System Heredodegenerative Disorders 1704
              motor peripheral neuropathy 448
                Charcot-Marie-Tooth disease 309
                  Charcot-Marie-Tooth disease type X 5
                    Charcot-Marie-Tooth disease X-linked dominant 1 1
                    Charcot-Marie-Tooth disease X-linked dominant 6 1
                    Charcot-Marie-Tooth disease X-linked recessive 2 0
                    Charcot-Marie-Tooth disease X-linked recessive 3 0
                    Charcot-Marie-Tooth disease X-linked recessive 4 2
                    Charcot-Marie-Tooth disease X-linked recessive 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.