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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 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:59,162,756...59,237,231
Ensembl chr 1:59,162,926...59,237,231
JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor (GEF) 10 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 8:14,906,412...15,001,085
Ensembl chr 8:14,911,663...15,001,085
JBrowse link
G Bag3 BCL2-associated athanogene 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 chr 7:128,523,583...128,546,981
Ensembl chr 7:128,523,616...128,546,981
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr12:101,746,565...101,819,119
Ensembl chr12:101,746,565...101,819,055
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 6:55,038,001...55,079,504
Ensembl chr 6:55,038,007...55,079,500
JBrowse link
G Gbf1 golgi-specific brefeldin A-resistance factor 1 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar NCBI chr19:46,152,509...46,286,510
Ensembl chr19:46,152,509...46,286,510
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 1:17,145,373...17,164,271
Ensembl chr 1:17,145,362...17,164,271
JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chr11:54,866,383...54,870,506
Ensembl chr11:54,866,383...54,870,501
JBrowse link
G Syt2 synaptotagmin II ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 1:134,646,534...134,753,149
Ensembl chr 1:134,646,677...134,762,593
JBrowse link
G Trim2 tripartite motif-containing 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 3:84,160,439...84,308,352
Ensembl chr 3:84,160,439...84,306,877
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 4:40,682,078...40,721,667
Ensembl chr 4:40,682,382...40,703,194
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 1
ClinVar Annotator: match by term: Ataxia-ocular apraxia-2
ClinVar Annotator: match by OMIM:606002
OMIM
ClinVar
PMID:14770181 PMID:15732101 PMID:17159128 PMID:18058631 PMID:18414213 PMID:18625865 PMID:19569000 PMID:19696032 PMID:20540686 PMID:20981092 PMID:21190393 PMID:22088787 PMID:23129421 PMID:23757202 PMID:23806086 PMID:23881933 PMID:23941260 PMID:24033266 PMID:24088041 PMID:25025039 PMID:25174650 PMID:25299611 PMID:25326635 PMID:25382069 PMID:25741868 PMID:25802885 PMID:26257172 PMID:26467025 PMID:26601740 PMID:26633545 PMID:27013921 PMID:27790088 PMID:28130640 PMID:28492532 PMID:28642336 PMID:28832565 PMID:29650794 PMID:32165824 NCBI chr 2:29,123,588...29,182,471
Ensembl chr 2:29,124,181...29,182,471
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 ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 OMIM
ClinVar
PMID:27683825 PMID:29718187 PMID:30885959 NCBI chr 4:108,328,152...108,340,718
Ensembl chr 4:108,328,140...108,341,544
JBrowse link
Giant Axonal Neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gan giant axonal neuropathy ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:117,157,981...117,205,834
Ensembl chr 8:117,158,135...117,215,997
JBrowse link
giant axonal neuropathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700030J22Rik RIKEN cDNA 1700030J22 gene ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:116,969,594...116,978,959
Ensembl chr 8:116,969,594...116,978,959
JBrowse link
G Atmin ATM interactor ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:116,943,383...116,960,445
Ensembl chr 8:116,943,393...116,960,445
JBrowse link
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:117,095,851...117,133,720
Ensembl chr 8:117,095,854...117,133,720
JBrowse link
G Cdyl2 chromodomain protein, Y chromosome-like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:116,568,723...116,732,991
Ensembl chr 8:116,574,400...116,732,991
JBrowse link
G Cenpn centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:116,921,716...116,941,504
Ensembl chr 8:116,921,730...116,941,507
JBrowse link
G Cmc2 COX assembly mitochondrial protein 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:116,888,685...116,944,322
Ensembl chr 8:116,888,685...116,921,455
JBrowse link
G Gan giant axonal neuropathy ISO
IEA
ClinVar Annotator: match by term: Giant axonal neuropathy 1
OMIM:256850
OMIM
ClinVar
MouseDO
PMID:2153943 PMID:11053687 PMID:11062483 PMID:11971098 PMID:12655563 PMID:12668605 PMID:14718689 PMID:15897506 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 chr 8:117,157,981...117,205,834
Ensembl chr 8:117,158,135...117,215,997
JBrowse link
G Gcsh glycine cleavage system protein H (aminomethyl carrier) ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:116,981,967...116,993,498
Ensembl chr 8:116,981,810...116,993,537
JBrowse link
G Pkd1l2 polycystic kidney disease 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr 8:116,995,679...117,082,449
Ensembl chr 8:116,995,679...117,082,449
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 ClinVar Annotator: match by term: Giant axonal neuropathy 2, autosomal dominant
ClinVar Annotator: match by OMIM:610100
OMIM
ClinVar
PMID:3859241 PMID:24500646 PMID:25741868 NCBI chr 1:172,148,015...172,196,393
Ensembl chr 1:172,148,084...172,197,005
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
IEA
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
OMIM:607250
OMIM
ClinVar
MouseDO
PMID:12244316 PMID:24355542 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:99,884,515...99,955,223
Ensembl chr12:99,884,517...99,955,219
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13465
    disease of anatomical entity 12944
      nervous system disease 10487
        peripheral nervous system disease 2429
          neuropathy 2259
            axonal neuropathy 24
              Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy + 4
              Giant Axonal Neuropathy + 10
paths to the root