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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:26467025 PMID:28492532 NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
JBrowse link
G Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr16:74,647,147...74,738,784
Ensembl chr16:74,647,153...74,738,173
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar NCBI chr 4:84,171,596...84,212,609
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 NCBI chr 1:245,018,535...245,147,052
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: Peripheral axonal neuropathy ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 More... NCBI chr 5:1,932,613...1,951,691
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 JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Peripheral axonal neuropathy ClinVar PMID:25741868 NCBI chr13:46,088,046...46,197,976
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 2:169,500,628...169,652,855
Ensembl chr 2:169,500,634...169,652,927
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: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: 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 More... NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
OMIM
ClinVar
PMID:25741868 PMID:27683825 PMID:29718187 PMID:30885959 NCBI chr 5:123,069,356...123,080,942
Ensembl chr 5:123,069,371...123,080,199
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
ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:28771897 PMID:32693025 NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
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 chr19:45,207,864...45,258,831
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 JBrowse link
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101
JBrowse link
G Cdyl2 chromodomain Y-like 2 ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 ClinVar PMID:28492532 NCBI chr19:44,591,734...44,783,258
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 chr19:44,971,265...44,994,019
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...44,997,408 JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Giant axonal neuropathy 1 OMIM
ClinVar
PMID:2153943 PMID:9536098 PMID:11053687 PMID:11062483 PMID:11971098 More... NCBI chr19:45,207,864...45,258,831
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 chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792
JBrowse link
G LOC687399 hypothetical protein LOC687399 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 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 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 chr13:84,609,838...84,667,025
Ensembl chr13:84,610,248...84,669,726
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 6:119,163,192...119,231,029
Ensembl chr 6:119,163,166...119,231,021
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        peripheral nervous system disease 2536
          neuropathy 2332
            axonal neuropathy 24
              Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy + 4
              DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY 1
              Giant Axonal Neuropathy + 10
paths to the root