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RGD uses the Human Disease Ontology (DO, 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:giant axonal neuropathy 2
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Accession:DOID:0090069 term browser browse the term
Definition:An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23. (DO)
Synonyms:exact_synonym: GAN2;   giant axonal neuropathy 2, autosomal dominant;   giant axonal neuropathy, autosomal dominant
 primary_id: MESH:C566444
 alt_id: OMIM:610100;   RDO:0014795
For additional species annotation, visit the Alliance of Genome Resources.

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giant axonal neuropathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcaf8 DDB1 and CUL4 associated factor 8 ISO ClinVar Annotator: match by OMIM:610100
ClinVar Annotator: match by term: Giant axonal neuropathy 2, autosomal dominant
PMID:3859241 PMID:24500646 PMID:25741868 NCBI chr13:90,532,153...90,587,542
Ensembl chr13:90,532,326...90,591,796
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          monogenic disease 6338
            autosomal genetic disease 5493
              autosomal dominant disease 3749
                giant axonal neuropathy 2 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          neurodegenerative disease 3348
            Nervous System Heredodegenerative Disorders 1976
              motor peripheral neuropathy 480
                Giant Axonal Neuropathy 10
                  giant axonal neuropathy 2 1
paths to the root