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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 chr19:49,692,790...49,746,178
Ensembl chr19:49,695,579...49,741,965
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 chr19:49,482,482...49,499,682 JBrowse link
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,637,059...49,673,577
Ensembl chr19:49,637,016...49,673,808
JBrowse link
G Cdyl2 chromodomain Y-like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,087,131...49,222,528
Ensembl chr19:49,093,355...49,198,073
JBrowse link
G Cenpn centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,457,461...49,479,989
Ensembl chr19:49,340,184...49,479,996
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 chr19:49,433,332...49,457,641
Ensembl chr19:49,433,590...49,448,072
JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 OMIM
ClinVar
PMID:2153943 PMID:11053687 PMID:11062483 PMID:11971098 PMID:12655563 PMID:12668605 PMID:14718689 PMID:15897506 PMID:17331252 PMID:17578852 PMID:17587580 PMID:19231187 PMID:19295179 PMID:20949505 PMID:21356581 PMID:23248352 PMID:23316953 PMID:23332420 PMID:23890932 PMID:24464710 PMID:24758703 PMID:25025039 PMID:25040701 PMID:25326635 PMID:25741868 PMID:28492532 PMID:30373780 NCBI chr19:49,692,790...49,746,178
Ensembl chr19:49,695,579...49,741,965
JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,522,054...49,532,811
Ensembl chr19:49,522,054...49,532,811
JBrowse link
G LOC687399 hypothetical protein LOC687399 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,508,321...49,518,721
Ensembl chr19:49,508,288...49,518,721
JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,535,122...49,624,291
Ensembl chr19:49,535,792...49,623,758
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 ClinVar Annotator: match by term: Giant axonal neuropathy 2, autosomal dominant
ClinVar Annotator: match by OMIM:610100
OMIM
ClinVar
PMID:3859241 PMID:24500646 PMID:25741868 NCBI chr13:90,532,153...90,587,542
Ensembl chr13:90,532,326...90,591,796
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            motor peripheral neuropathy 526
              Giant Axonal Neuropathy 10
                giant axonal neuropathy 1 9
                giant axonal neuropathy 2 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          neurodegenerative disease 3216
            Nervous System Heredodegenerative Disorders 1915
              motor peripheral neuropathy 526
                Giant Axonal Neuropathy 10
                  giant axonal neuropathy 1 9
                  giant axonal neuropathy 2 1
paths to the root