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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 chr15:105,328,717...105,401,152
Ensembl chr15:105,328,718...105,401,108
JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr15:33,370,093...33,465,852 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 chr14:129,510,240...129,533,998
Ensembl chr14:129,510,293...129,533,996
JBrowse link
G FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 7:113,423,629...113,526,412
Ensembl chr 7:113,423,629...113,522,069
JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162
JBrowse link
G GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar NCBI chr14:113,245,486...113,379,472
Ensembl chr14:113,245,499...113,379,474
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 4:61,577,413...61,596,106
Ensembl chr 4:61,577,416...61,596,303
JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chr 2:133,469,765...133,475,813
Ensembl chr 2:133,467,137...133,475,734
JBrowse link
G SYT2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr10:24,638,645...24,727,198
Ensembl chr10:24,638,704...24,669,846
JBrowse link
G TRIM2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 8:75,770,344...75,939,812
Ensembl chr 8:75,770,345...75,890,235
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 chr10:33,470,089...33,495,584
Ensembl chr10:33,445,168...33,771,582
JBrowse link
G SETX senataxin ISO OMIM NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,750
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 chr 6:159,511,862...159,528,982
Ensembl chr 6:159,511,853...159,528,049
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 6:6,921,446...6,989,670
Ensembl chr 6:6,933,485...6,989,653
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 6:7,209,512...7,223,195
Ensembl chr 6:7,208,158...7,223,155
JBrowse link
G BCO1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 6:7,008,330...7,054,089
Ensembl chr 6:7,012,613...7,105,271
JBrowse link
G C6H16orf46 chromosome 6 C16orf46 homolog ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 6:7,189,026...7,208,669
Ensembl chr 6:7,189,523...7,207,357
JBrowse link
G CDYL2 chromodomain Y like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 6:7,420,477...7,707,446
Ensembl chr 6:7,420,763...7,604,985
JBrowse link
G CENPN centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 6:7,227,981...7,254,927
Ensembl chr 6:7,227,982...7,254,866
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 6:7,254,937...7,278,714 JBrowse link
G GAN gigaxonin ISO OMIM NCBI chr 6:6,921,446...6,989,670
Ensembl chr 6:6,933,485...6,989,653
JBrowse link
G GCSH glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 6:7,171,186...7,184,732 JBrowse link
G PKD1L2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 6:7,065,143...7,166,620
Ensembl chr 6:7,066,912...7,110,944
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 4:90,214,916...90,263,259
Ensembl chr 4:90,197,088...90,261,551
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 7:111,767,094...111,853,262
Ensembl chr 7:111,767,089...111,853,257
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12682
    disease of anatomical entity 12220
      nervous system disease 9962
        peripheral nervous system disease 2310
          neuropathy 2152
            axonal neuropathy 24
              Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy + 4
              Giant Axonal Neuropathy + 10
paths to the root