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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:axonal neuropathy
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Accession:DOID:7319 term browser browse the term
Synonyms:narrow_synonym: MOTOR AXONAL NEUROPATHY;   SENSORY AXONAL NEUROPATHY
 related_synonym: PERIPHERAL AXONAL NEUROPATHY
 primary_id: RDO:9002728
 xref: NCI:C27301
For additional species annotation, visit the Alliance of Genome Resources.


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axonal neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955403:22,449...104,577
Ensembl chrNW_004955403:22,449...104,948
JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chrNW_004955403:57,820,003...57,907,324
Ensembl chrNW_004955403:57,818,837...57,907,324
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:19085932 PMID:20605452 PMID:21361913 PMID:22734908 PMID:25208129 PMID:25728519 PMID:25741868 PMID:26545904 PMID:27164712 PMID:27443559 PMID:28492532 PMID:28754666 PMID:30559338 NCBI chrNW_004955551:446,322...468,329
Ensembl chrNW_004955551:446,605...469,207
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chrNW_004955438:14,073,927...14,144,644
Ensembl chrNW_004955438:14,071,410...14,145,070
JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chrNW_004955410:31,778,654...31,819,287
Ensembl chrNW_004955410:31,779,543...31,819,113
JBrowse link
G Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar NCBI chrNW_004955485:8,006,161...8,126,074
Ensembl chrNW_004955485:8,006,706...8,115,561
JBrowse link
G Gdap1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Axonal neuropathy ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:25231362 PMID:25741868 PMID:28492532 NCBI chrNW_004955444:6,053,422...6,069,741
Ensembl chrNW_004955444:6,051,301...6,069,765
JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chrNW_004955408:2,673,950...2,678,528
Ensembl chrNW_004955408:2,674,109...2,678,528
JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chrNW_004955406:38,638,192...38,743,077
Ensembl chrNW_004955406:38,643,911...38,743,222
JBrowse link
G Trim2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chrNW_004955471:7,523,895...7,698,436
Ensembl chrNW_004955471:7,594,966...7,698,436
JBrowse link
ataxia with oculomotor apraxia type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266 PMID:26467025 PMID:28492532 NCBI chrNW_004955472:2,645,716...2,664,394
Ensembl chrNW_004955472:2,652,869...2,664,272
JBrowse link
G Setx senataxin ISO OMIM NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021
JBrowse link
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102016246 cytochrome c oxidase assembly factor 7 ISO OMIM NCBI chrNW_004955464:6,472,158...6,490,618
Ensembl chrNW_004955464:6,472,053...6,497,526
JBrowse link
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
spinocerebellar ataxia type 1 with axonal neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO OMIM NCBI chrNW_004955438:12,421,790...12,510,243
Ensembl chrNW_004955438:12,421,005...12,511,493
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11866
    disease of anatomical entity 11420
      nervous system disease 9342
        peripheral nervous system disease 2216
          neuropathy 2067
            axonal neuropathy 24
              Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy + 4
              Giant Axonal Neuropathy + 10
paths to the root