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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:sensory peripheral neuropathy
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Accession:DOID:2491 term browser browse the term
Definition:A neuropathy that involves damage to nerves of the peripheral nervous system. (DO)
Synonyms:exact_synonym: sensory neuropathy
 primary_id: RDO:9004329
 xref: ICD9CM:356.2;   NCI:C3501
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
sensory peripheral neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bace1 beta-secretase 1 IEP mRNA:decreased expression:dorsal root ganglion RGD PMID:28012171 RGD:13782150 NCBI chr 8:50,140,092...50,162,388
Ensembl chr 8:50,139,997...50,162,361 		JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Sensory 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 Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Sensory neuropathy ClinVar PMID:30311386 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Peripheral sensory neuropathy ClinVar PMID:25741868, PMID:30311386 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Sensory neuropathy ClinVar PMID:30311386 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310 		JBrowse link
G Mir15b microRNA 15b IEP RNA:increased expression:dorsal root ganglion: RGD PMID:28012171 RGD:13782150 NCBI chr 2:165,605,923...165,606,020
Ensembl chr 2:165,605,923...165,606,020 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Peripheral sensory neuropathy ClinVar PMID:7688964, PMID:8644725, PMID:8797476, PMID:10581375, PMID:10737979, PMID:11437164, PMID:12221176, PMID:12477701, PMID:20215982, PMID:20461396, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Sensory neuropathy ClinVar PMID:30311386 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Peripheral sensory neuropathy ClinVar PMID:12369018, PMID:16575835, PMID:17559086, PMID:18640039, PMID:18752264, PMID:19299310, PMID:22323514, PMID:23757202, PMID:24304607, PMID:24491487, PMID:25741868, PMID:28492532, PMID:30311386, PMID:32860008 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Sensory neuropathy ClinVar PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101 		JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Sensory neuropathy ClinVar PMID:28492532, PMID:32581362 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109 		JBrowse link
G Sptlc3 serine palmitoyltransferase, long chain base subunit 3 ISO ClinVar Annotator: match by term: Sensory neuropathy ClinVar PMID:23806086, PMID:24088041, PMID:26257172 NCBI chr 3:132,560,437...132,689,313
Ensembl chr 3:132,560,506...132,692,737 		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
            sensory peripheral neuropathy 12
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.