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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.


show annotations for term's descendants           Sort by:
 
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:17256086, 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                giant axonal neuropathy 1 9
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          neurodegenerative disease 3186
            Nervous System Heredodegenerative Disorders 1947
              motor peripheral neuropathy 537
                Giant Axonal Neuropathy 10
                  giant axonal neuropathy 1 9
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.