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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:giant axonal neuropathy 1
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Accession:DOID:0090068 term browser browse the term
Definition:An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23. (DO)
Synonyms:exact_synonym: GAN1;   giant axonal neuropathy 1 (GAN1);   giant axonal neuropathy 1, autosomal recessive;   giant axonal neuropathy, autosomal recessive
 primary_id: OMIM:256850
 alt_id: RDO:9002729
 xref: ORDO:643
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
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giant axonal neuropathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atmin ATM interactor ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004955522:3,829,875...3,835,449
Ensembl chrNW_004955522:3,829,865...3,835,449
JBrowse link
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004955522:3,985,515...4,018,116
Ensembl chrNW_004955522:3,985,266...4,018,886
JBrowse link
G Cdyl2 chromodomain Y like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004955522:3,403,542...3,458,029
Ensembl chrNW_004955522:3,409,054...3,571,178
JBrowse link
G Cenpn centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004955522:3,801,856...3,818,675
Ensembl chrNW_004955522:3,804,578...3,818,885
JBrowse link
G Cmc2 C-X9-C motif containing 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004955522:3,774,136...3,801,892
Ensembl chrNW_004955522:3,773,997...3,802,336
JBrowse link
G Gan gigaxonin ISO OMIM NCBI chrNW_004955522:4,035,672...4,096,845
Ensembl chrNW_004955522:4,035,672...4,090,630
JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004955522:3,858,156...3,869,730 JBrowse link
G LOC102030116 chromosome unknown open reading frame, human C16orf46 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004955522:3,845,029...3,853,167 JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chrNW_004955522:3,877,806...3,963,197 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11876
    Developmental Diseases 8481
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7457
        genetic disease 7032
          monogenic disease 5205
            autosomal genetic disease 4492
              autosomal recessive disease 2475
                giant axonal neuropathy 1 9
Path 2
Term Annotations click to browse term
  disease 11876
    disease of anatomical entity 11432
      nervous system disease 9351
        central nervous system disease 7910
          neurodegenerative disease 2808
            Nervous System Heredodegenerative Disorders 1757
              motor peripheral neuropathy 502
                Giant Axonal Neuropathy 10
                  giant axonal neuropathy 1 9
paths to the root