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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 Aaas aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: Axonal neuropathy ClinVar PMID:1537368, PMID:6243664, PMID:11159947, PMID:12752575, PMID:16098009, PMID:18628786, PMID:25741868, PMID:26622478, PMID:30311386 NCBI chr 7:143,937,198...143,956,668
Ensembl chr 7:143,937,199...143,956,668
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr16:79,725,629...79,817,065
Ensembl chr16:79,725,643...79,793,619
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 chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Crybb2 crystallin, beta B2 ISO ClinVar Annotator: match by term: Axonal neuropathy ClinVar PMID:30311386 NCBI chr12:49,577,580...49,588,555
Ensembl chr12:49,578,633...49,588,555
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Axonal neuropathy ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar NCBI chr 1:265,904,616...266,033,107
Ensembl chr 1:265,904,566...266,033,156
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, PMID:30311386 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Sensory axonal neuropathy ClinVar NCBI chr10:40,208,236...40,211,981
Ensembl chr10:40,208,223...40,211,975
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Axonal neuropathy ClinVar PMID:30311386 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Sh3bp4 SH3-domain binding protein 4 ISO ClinVar Annotator: match by term: Motor axonal neuropathy ClinVar PMID:30311386 NCBI chr 9:96,210,750...96,288,903
Ensembl chr 9:96,210,750...96,288,903
JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr13:51,569,248...51,577,824
Ensembl chr13:51,534,025...51,578,052
JBrowse link
G Trim2 tripartite motif-containing 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 2:183,145,096...183,223,819
Ensembl chr 2:183,145,089...183,213,228
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 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859
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:15106121, 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:30311386 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
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 5:127,925,726...127,936,516
Ensembl chr 5:127,925,726...127,936,509
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 chr19:49,692,790...49,746,178
Ensembl chr19:49,695,579...49,741,965
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 chr19:49,482,482...49,499,682 JBrowse link
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,637,059...49,673,577
Ensembl chr19:49,637,016...49,673,808
JBrowse link
G Cdyl2 chromodomain Y-like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,087,131...49,222,528
Ensembl chr19:49,093,355...49,198,073
JBrowse link
G Cenpn centromere protein N ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,457,461...49,479,989
Ensembl chr19:49,340,184...49,479,996
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 chr19:49,433,332...49,457,641
Ensembl chr19:49,433,590...49,448,072
JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 OMIM
ClinVar
PMID:2153943, PMID:11053687, PMID:11062483, PMID:11971098, PMID:12655563, PMID:12668605, PMID:14718689, PMID:15897506, PMID:17256086, 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 chr19:49,692,790...49,746,178
Ensembl chr19:49,695,579...49,741,965
JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,522,054...49,532,811
Ensembl chr19:49,522,054...49,532,811
JBrowse link
G LOC687399 hypothetical protein LOC687399 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,508,321...49,518,721
Ensembl chr19:49,508,288...49,518,721
JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:49,535,122...49,624,291
Ensembl chr19:49,535,792...49,623,758
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 OMIM:610100 OMIM
ClinVar
PMID:3859241, PMID:24500646 NCBI chr13:90,532,153...90,587,542
Ensembl chr13:90,532,326...90,591,796
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 ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 OMIM
ClinVar
PMID:12244316, PMID:24355542, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 6:123,895,860...123,963,688
Ensembl chr 6:123,897,956...123,963,675
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            axonal neuropathy 29
              Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy + 4
              Giant Axonal Neuropathy + 10
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.