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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 2A1
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Accession:DOID:0110154 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: CMT2A1;   Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1;   Charcot-Marie-Tooth Disease, Axonal, Type 2A1;   Charcot-Marie-Tooth Disease, Neuronal, Type 2a1;   Charcot-Marie-Tooth Neuropathy, Type 2A1;   HMSN IIA1;   HMSN2A1;   Hereditary Motor And Sensory Neuropathy IIA1
 primary_id: MESH:C566138
 alt_id: OMIM:118210;   RDO:0014587
 xref: ORDO:99946
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Charcot-Marie-Tooth disease type 2A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:7240710
RGD:8554872
RGD:12738406

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        neuromuscular disease 1520
          Charcot-Marie-Tooth disease 318
            Charcot-Marie-Tooth disease type 2 62
              Charcot-Marie-Tooth disease type 2A1 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 457
                Charcot-Marie-Tooth disease 318
                  Charcot-Marie-Tooth disease type 2 62
                    Charcot-Marie-Tooth disease type 2A1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.