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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 chr37:10,755,595...10,825,073
Ensembl chr37:10,756,515...10,812,292
JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr16:54,293,534...54,378,706
Ensembl chr16:54,293,435...54,347,555
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 chr28:29,792,612...29,815,466
Ensembl chr28:29,792,777...29,815,138
JBrowse link
G FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 8:1,162,203...1,231,809
Ensembl chr 8:1,162,923...1,231,719
JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr14:43,308,274...43,351,999
Ensembl chr14:43,308,152...43,396,487
JBrowse link
G GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar NCBI chr28:14,775,431...14,896,121
Ensembl chr28:14,788,369...14,895,978
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 chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069
JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chr11:19,551,057...19,555,390 JBrowse link
G SYT2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 7:497,387...509,338
Ensembl chr 7:497,394...502,952
JBrowse link
G TRIM2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr15:50,973,758...51,104,422 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 chr11:50,111,003...50,155,937
Ensembl chr11:50,113,073...50,132,284
JBrowse link
G SETX senataxin ISO OMIM NCBI chr 9:51,900,004...51,980,694
Ensembl chr 9:51,901,233...51,978,833
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 COA7 cytochrome c oxidase assembly factor 7 ISO OMIM NCBI chr15:8,706,047...8,718,184
Ensembl chr15:8,706,070...8,717,425
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 chr 5:70,518,667...70,579,398
Ensembl chr 5:70,530,396...70,579,567
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 chr 5:70,779,676...70,795,829
Ensembl chr 5:70,782,853...70,795,888
JBrowse link
G BCO1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:70,598,743...70,637,273
Ensembl chr 5:70,599,284...70,637,017
JBrowse link
G C5H16orf46 chromosome 5 C16orf46 homolog ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:70,762,353...70,775,341
Ensembl chr 5:70,765,736...70,774,052
JBrowse link
G CDYL2 chromodomain Y like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:71,080,757...71,133,585
Ensembl chr 5:71,045,643...71,127,112
JBrowse link
G CENPN centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:70,798,322...70,820,927
Ensembl chr 5:70,798,886...70,820,960
JBrowse link
G GAN gigaxonin ISO OMIM NCBI chr 5:70,518,667...70,579,398
Ensembl chr 5:70,530,396...70,579,567
JBrowse link
G GCSH glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:70,745,591...70,757,292
Ensembl chr 5:70,745,258...70,756,830
JBrowse link
G LOC102155476 COX assembly mitochondrial protein 2 homolog ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr10:6,581,983...6,582,314
Ensembl chr 5:70,821,294...70,836,763
JBrowse link
G PKD1L2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 5:70,653,179...70,741,134
Ensembl chr 5:70,653,179...70,693,510
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 chr38:21,959,228...22,001,388
Ensembl chr38:21,959,254...21,999,677
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 chr 8:61,023,564...61,107,599
Ensembl chr 8:61,024,084...61,107,506
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12734
    disease of anatomical entity 12266
      nervous system disease 10005
        peripheral nervous system disease 2323
          neuropathy 2161
            axonal neuropathy 24
              Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy + 4
              Giant Axonal Neuropathy + 10
paths to the root