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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.



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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 chr19:44,996,506...45,013,606
Ensembl chr19:44,996,356...45,013,605
JBrowse link
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101
JBrowse link
G Cdyl2 chromodomain Y-like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:44,591,734...44,783,258
Ensembl chr19:44,597,459...44,783,022
JBrowse link
G Cenpn centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:44,971,265...44,994,019
Ensembl chr19:44,968,308...44,994,012
JBrowse link
G Cmc2 C-x(9)-C motif containing 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:44,943,283...44,997,408
Ensembl chr19:44,943,285...44,971,983
JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 OMIM
ClinVar
PMID:2153943 PMID:9536098 PMID:11053687 PMID:11062483 PMID:11971098 More... NCBI chr19:45,207,864...45,258,831
Ensembl chr19:45,207,184...45,254,107
JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792
JBrowse link
G LOC687399 hypothetical protein LOC687399 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:45,017,499...45,033,453
Ensembl chr19:45,022,280...45,032,683
JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                giant axonal neuropathy 1 9
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          neurodegenerative disease 3870
            Nervous System Heredodegenerative Disorders 2364
              motor peripheral neuropathy 673
                Giant Axonal Neuropathy 10
                  giant axonal neuropathy 1 9
paths to the root