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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:26467025 PMID:28492532 PMID:31589614 PMID:37091313 NCBI chr 9:68,107,310...68,180,192
Ensembl chr 9:60,613,167...60,670,737 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 PMID:28492532 PMID:32657593 NCBI chr 6:126,664,100...126,742,847
Ensembl chr 6:120,899,224...120,977,755 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 4:85,484,939...85,542,876
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar PMID:32937143 NCBI chr 1:254,959,784...255,088,479
Ensembl chr 1:245,018,568...245,147,042 		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 More... NCBI chr 5:6,715,935...6,735,013
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chr10:38,989,516...38,993,259
Ensembl chr 4:92,100,973...92,101,568 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:18458227 PMID:20008656 PMID:20350294 PMID:20482598 PMID:22492563 More... NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr13:48,639,634...48,749,814
Ensembl chr13:46,185,282...46,193,859 		JBrowse link
G Trim2 tripartite motif-containing 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 2:171,798,654...171,950,193
Ensembl chr 2:169,500,634...169,652,927 		JBrowse link
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morc2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy OMIM
ClinVar		 PMID:7964809 PMID:12601114 PMID:25741868 PMID:25741893 PMID:26497905 More... NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343 		JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy ClinVar PMID:25741868 NCBI chr  X:121,238,714...121,258,360
Ensembl chr  X:116,372,839...116,394,945 		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
ClinVar Annotator: match by term: Giant axonal neuropathy		 CTD
ClinVar		 PMID:14718689 PMID:16565160 PMID:17578852 PMID:25741868 PMID:28492532 More... NCBI chr19:62,116,600...62,173,879
Ensembl chr19:45,207,184...45,254,107 		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 chr19:44,996,506...45,013,606
Ensembl chr19:44,996,356...45,013,605 		JBrowse link
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:62,058,061...62,094,923
Ensembl chr19:45,149,265...45,186,101 		JBrowse link
G C19h16orf46 similar to human chromosome 16 open reading frame 46 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:45,017,499...45,033,453
Ensembl chr19:45,022,280...45,032,683 		JBrowse link
G Cdyl2 chromodomain Y-like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:61,500,702...61,691,746
Ensembl chr19:44,597,459...44,783,022 		JBrowse link
G Cenpn centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:61,880,101...61,902,850
Ensembl chr19:44,968,308...44,994,012 		JBrowse link
G Cmc2 C-x(9)-C motif containing 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:44,943,283...44,971,930
Ensembl chr19:44,943,285...44,971,983 		JBrowse link
G Gan gigaxonin ISO
ISS		 ClinVar Annotator: match by term: Giant axonal neuropathy 1
OMIM:256850		 OMIM
ClinVar
MouseDO		 PMID:2153943 PMID:9536098 PMID:11053687 PMID:11062483 PMID:11971098 More... NCBI chr19:62,116,600...62,173,879
Ensembl chr19:45,207,184...45,254,107 		JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:61,944,850...61,955,607
Ensembl chr19:45,036,011...45,046,792 		JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DCAF8-related condition | ClinVar Annotator: match by term: Giant axonal neuropathy 2		 OMIM
CTD
ClinVar		 PMID:3859241 PMID:24500646 PMID:25741868 PMID:28492532 NCBI chr13:87,141,940...87,199,859
Ensembl chr13:84,610,248...84,669,726 		JBrowse link
spinocerebellar ataxia with axonal neuropathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO
ISS		 ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | ClinVar Annotator: match by term: TDP1-related condition
OMIM:607250
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:12244316 PMID:12470949 PMID:15111055 PMID:15920477 PMID:16141202 More... NCBI chr 6:124,892,821...124,960,646
Ensembl chr 6:119,163,166...119,231,021 		JBrowse link
spinocerebellar ataxia with axonal neuropathy 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: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ClinVar PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: SETX-related disorder | 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: SETX-related disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 More... NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:25326637 PMID:25741868 NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
spinocerebellar ataxia with axonal neuropathy type 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: COA7-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM
ClinVar		 PMID:25741868 PMID:27683825 PMID:28492532 PMID:29718187 PMID:30885959 NCBI chr 5:123,069,356...123,080,942
Ensembl chr 5:123,069,371...123,080,199 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        peripheral nervous system disease 4399
          neuropathy 4187
            axonal neuropathy 26
              Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy + 5
              DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY 2
              Giant Axonal Neuropathy + 10
paths to the root