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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


show annotations for term's descendants           Sort by:
Giant Axonal Neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gan giant axonal neuropathy ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Giant axonal neuropathy		 CTD
ClinVar		 PMID:14718689 PMID:16565160 PMID:17578852 PMID:28492532 NCBI chr 8:117,884,720...117,932,573
Ensembl chr 8:117,884,874...117,942,736 		JBrowse link
giant axonal neuropathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700030J22Rik RIKEN cDNA 1700030J22 gene ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:117,696,333...117,705,741
Ensembl chr 8:117,696,333...117,705,698 		JBrowse link
G Atmin ATM interactor ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:117,670,132...117,687,184
Ensembl chr 8:117,670,132...117,687,184 		JBrowse link
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:117,822,590...117,860,459
Ensembl chr 8:117,822,593...117,860,459 		JBrowse link
G Cdyl2 chromodomain protein, Y chromosome-like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:117,295,462...117,459,730
Ensembl chr 8:117,301,139...117,459,730 		JBrowse link
G Cenpn centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:117,648,448...117,668,243
Ensembl chr 8:117,648,469...117,668,246 		JBrowse link
G Cmc2 C-X9-C motif containing 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:117,615,424...117,671,061
Ensembl chr 8:117,615,424...117,648,194 		JBrowse link
G Gan giant axonal neuropathy ISO
IAGP		 ClinVar Annotator: match by term: Giant axonal neuropathy 1
OMIM:256850		 OMIM
ClinVar
MouseDO		 PMID:2153943 PMID:9536098 PMID:11053687 PMID:11062483 PMID:11971098 More... NCBI chr 8:117,884,720...117,932,573
Ensembl chr 8:117,884,874...117,942,736 		JBrowse link
G Gcsh glycine cleavage system protein H (aminomethyl carrier) ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:117,708,706...117,720,237
Ensembl chr 8:117,708,549...117,720,276 		JBrowse link
G Pkd1l2 polycystic kidney disease 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:117,722,089...117,809,227
Ensembl chr 8:117,722,418...117,809,188 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Giant axonal neuropathy 2		 OMIM
CTD
ClinVar		 PMID:3859241 PMID:24500646 PMID:25741868 PMID:28492532 NCBI chr 1:171,975,574...172,023,959
Ensembl chr 1:171,975,651...172,024,572 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        peripheral nervous system disease 4114
          neuropathy 3914
            motor peripheral neuropathy 1203
              Giant Axonal Neuropathy 10
                giant axonal neuropathy 1 9
                giant axonal neuropathy 2 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          neurodegenerative disease 4811
            Nervous System Heredodegenerative Disorders 3288
              motor peripheral neuropathy 1203
                Giant Axonal Neuropathy 10
                  giant axonal neuropathy 1 9
                  giant axonal neuropathy 2 1
paths to the root