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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.

show annotations for term's descendants           Sort by:
 
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 chr2B:88,954,167...89,034,764
Ensembl chr2B:207,108,952...207,189,623 		JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 8:5,381,357...5,541,094
Ensembl chr 8:1,724,413...1,862,917 		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 chr10:116,221,747...116,248,692
Ensembl chr10:119,643,963...119,665,964 		JBrowse link
G FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr14:72,504,240...72,583,160
Ensembl chr14:91,848,430...91,927,304 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582 		JBrowse link
G GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar NCBI chr10:98,849,000...98,986,443
Ensembl chr10:102,316,329...102,452,439 		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 chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chr 5:126,587,934...126,594,032
Ensembl chr 5:132,755,766...132,761,823 		JBrowse link
G SYT2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 1:178,187,872...178,308,522
Ensembl chr 1:182,490,401...182,538,123 		JBrowse link
G TRIM2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 4:145,494,088...145,681,287
Ensembl chr 4:157,194,729...157,500,723 		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 chr 9:32,747,409...32,819,270
Ensembl chr 9:33,556,419...33,585,060 		JBrowse link
G SETX senataxin ISO OMIM NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665 		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 LOC100990610 cytochrome c oxidase assembly factor 7 ISO OMIM NCBI chr 1:51,946,060...51,960,364
Ensembl chr 1:53,554,945...53,566,489 		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 chr16:61,919,004...61,994,811
Ensembl chr16:81,347,215...81,410,363 		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 chr16:61,642,394...61,653,921 JBrowse link
G BCO1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:61,843,567...61,897,012
Ensembl chr16:81,270,577...81,323,088 		JBrowse link
G C16H16orf46 chromosome 16 C16orf46 homolog ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:61,659,749...61,684,534
Ensembl chr16:81,088,460...81,098,032 		JBrowse link
G CDYL2 chromodomain Y like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:61,196,716...61,409,662
Ensembl chr16:80,627,731...80,837,797 		JBrowse link
G CENPN centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:61,611,724...61,639,253
Ensembl chr16:81,039,744...81,067,919 		JBrowse link
G CMC2 C-X9-C motif containing 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:61,582,018...61,612,597
Ensembl chr16:81,009,625...81,040,355 		JBrowse link
G GAN gigaxonin ISO OMIM NCBI chr16:61,919,004...61,994,811
Ensembl chr16:81,347,215...81,410,363 		JBrowse link
G GCSH glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:61,688,959...61,702,364 JBrowse link
G LOC100988147 polycystic kidney disease protein 1-like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr16:61,736,153...61,770,746 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 chr 1:135,569,736...135,616,614
Ensembl chr 1:139,490,069...139,537,572 		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 chr14:70,574,066...70,662,562
Ensembl chr14:89,926,462...90,014,802 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12807
    disease of anatomical entity 12337
      nervous system disease 10078
        peripheral nervous system disease 2296
          neuropathy 2138
            axonal neuropathy 24
              Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy + 4
              Giant Axonal Neuropathy + 10
paths to the root