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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
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Accession:DOID:9000462 term browser browse the term
Definition:Rare disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS).
Synonyms:exact_synonym: GAN;   Giant Axonal Neuropathy (GAN)
 primary_id: MESH:D056768
 alt_id: RDO:0007756
 xref: NCI:C84728;   OMIM:PS256850
For additional species annotation, visit the Alliance of Genome Resources.


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Giant Axonal Neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gan gigaxonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955522:4,035,672...4,096,845
Ensembl chrNW_004955522:4,035,672...4,090,630
JBrowse link
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
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 OMIM NCBI chrNW_004955468:11,991,779...12,037,541
Ensembl chrNW_004955468:11,991,779...12,036,835
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11876
    disease of anatomical entity 11432
      nervous system disease 9351
        peripheral nervous system disease 2219
          neuropathy 2068
            motor peripheral neuropathy 502
              Giant Axonal Neuropathy 10
                giant axonal neuropathy 1 9
                giant axonal neuropathy 2 1
Path 2
Term Annotations click to browse term
  disease 11876
    disease of anatomical entity 11432
      nervous system disease 9351
        central nervous system disease 7911
          neurodegenerative disease 2808
            Nervous System Heredodegenerative Disorders 1757
              motor peripheral neuropathy 502
                Giant Axonal Neuropathy 10
                  giant axonal neuropathy 1 9
                  giant axonal neuropathy 2 1
paths to the root