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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:Nerve Degeneration
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Accession:DOID:9002955 term browser browse the term
Definition:Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.
Synonyms:exact_synonym: Nerve Degenerations;   Neuron Degeneration;   Neuron Degenerations
 related_synonym: striatal degeneration
 primary_id: MESH:D009410



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Nerve Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADORA1 adenosine A1 receptor EXP CTD Direct Evidence: therapeutic CTD PMID:23437309 NCBI chr 1:203,127,726...203,167,405
Ensembl chr 1:203,090,654...203,167,405
JBrowse link
G ADRA1B adrenoceptor alpha 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:12871582 NCBI chr 5:159,865,086...159,989,205
Ensembl chr 5:159,865,080...159,973,012
JBrowse link
G AGTPBP1 ATP/GTP binding carboxypeptidase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16952463 NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029
JBrowse link
G ANGPT1 angiopoietin 1 EXP CTD Direct Evidence: therapeutic CTD PMID:30476904 NCBI chr 8:107,249,482...107,497,918
Ensembl chr 8:107,249,482...107,498,055
JBrowse link
G ANK2 ankyrin 2 ISO RGD PMID:12949909 RGD:1599116 NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G APLP2 amyloid beta precursor like protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11784781 NCBI chr11:130,069,894...130,144,805
Ensembl chr11:130,068,147...130,144,811
JBrowse link
G APOE apolipoprotein E EXP CTD Direct Evidence: marker/mechanism CTD PMID:19522546 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G APP amyloid beta precursor protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11784781 PMID:11800653 PMID:12396081 PMID:12963085 PMID:16951259 More... NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
JBrowse link
G ARG2 arginase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30618589 NCBI chr14:67,619,920...67,651,708
Ensembl chr14:67,619,920...67,651,708
JBrowse link
G ATP13A2 ATPase cation transporting 13A2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22847264 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
JBrowse link
G ATRN attractin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16860906 NCBI chr20:3,471,018...3,651,118
Ensembl chr20:3,471,018...3,651,118
JBrowse link
G ATXN3 ataxin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9635424 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621
JBrowse link
G BAK1 BCL2 antagonist/killer 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19740541 NCBI chr 6:33,572,552...33,580,276
Ensembl chr 6:33,572,547...33,580,293
JBrowse link
G BAX BCL2 associated X, apoptosis regulator EXP CTD Direct Evidence: therapeutic CTD PMID:20385067 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCL2 BCL2 apoptosis regulator EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:11146106 PMID:17967740 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BDNF brain derived neurotrophic factor ISO
EXP
CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:8921280 PMID:8978711 PMID:15372491 PMID:19457078 PMID:19686240 More... RGD:10059347 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:lumbar spinal cord ventral horn RGD PMID:21436843 RGD:5685686 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:33661518 NCBI chr 9:27,546,546...27,573,866
Ensembl chr 9:27,535,640...27,573,866
JBrowse link
G CASP3 caspase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14999069 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
JBrowse link
G CD4 CD4 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:9546790 NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799
JBrowse link
G CD44 CD44 molecule (IN blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:15191797 NCBI chr11:35,139,171...35,232,402
Ensembl chr11:35,138,882...35,232,402
JBrowse link
G CD9 CD9 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:19522546 NCBI chr12:6,199,946...6,238,266
Ensembl chr12:6,199,715...6,238,271
JBrowse link
G CDH1 cadherin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12387456 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CDH2 cadherin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12387456 NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946
JBrowse link
G CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17581637 NCBI chr17:32,486,993...32,491,253
Ensembl chr17:32,486,993...32,491,253
JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit EXP CTD Direct Evidence: therapeutic CTD PMID:21715663 NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018
JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit EXP CTD Direct Evidence: therapeutic CTD PMID:21715663 NCBI chr 1:154,567,778...154,580,013
Ensembl chr 1:154,567,778...154,580,013
JBrowse link
G CNR1 cannabinoid receptor 1 ISO
EXP
CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:11517236 PMID:24211273 PMID:18313855 RGD:10059347 NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347
JBrowse link
G CNTF ciliary neurotrophic factor EXP CTD Direct Evidence: therapeutic CTD PMID:15372491 NCBI chr11:58,622,665...58,625,733
Ensembl chr11:58,622,665...58,625,733
JBrowse link
G CP ceruloplasmin EXP CTD Direct Evidence: therapeutic CTD PMID:18804145 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
JBrowse link
G CTNNB1 catenin beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12387456 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G DAG1 dystroglycan 1 ISO RGD PMID:16228655 RGD:11537480 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
JBrowse link
G DDC dopa decarboxylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19522546 NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405
JBrowse link
G DDIT4 DNA damage inducible transcript 4 EXP CTD Direct Evidence: therapeutic CTD PMID:17005863 NCBI chr10:72,273,924...72,276,036
Ensembl chr10:72,273,919...72,276,036
JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 ISO protein:increased expression:CA1&CA3 fields of hippocampus: RGD PMID:8750861 RGD:10401216 NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
JBrowse link
G EIF2S1 eukaryotic translation initiation factor 2 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:16492139 NCBI chr14:67,360,328...67,386,516
Ensembl chr14:67,360,328...67,386,516
JBrowse link
G EPO erythropoietin EXP CTD Direct Evidence: therapeutic CTD PMID:17010629 PMID:17166730 PMID:19497871 PMID:30837834 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G EPOR erythropoietin receptor EXP CTD Direct Evidence: therapeutic CTD PMID:19497871 NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
JBrowse link
G ETS2 ETS proto-oncogene 2, transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19522546 NCBI chr21:38,805,183...38,824,955
Ensembl chr21:38,805,183...38,824,955
JBrowse link
G F2 coagulation factor II, thrombin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19969022 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G FGF2 fibroblast growth factor 2 EXP CTD Direct Evidence: therapeutic CTD PMID:10203697 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
JBrowse link
G GHRL ghrelin and obestatin prepropeptide EXP CTD Direct Evidence: therapeutic CTD PMID:19429016 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947
JBrowse link
G GRIN2D glutamate ionotropic receptor NMDA type subunit 2D EXP CTD Direct Evidence: marker/mechanism CTD PMID:19911010 NCBI chr19:48,393,668...48,444,931
Ensembl chr19:48,393,668...48,444,931
JBrowse link
G GRM4 glutamate metabotropic receptor 4 EXP CTD Direct Evidence: therapeutic CTD PMID:17446080 NCBI chr 6:34,018,643...34,155,622
Ensembl chr 6:34,018,643...34,155,622
JBrowse link
G GRN granulin precursor EXP CTD Direct Evidence: therapeutic CTD PMID:21820214 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
JBrowse link
G HOTAIR HOX transcript antisense RNA EXP CTD Direct Evidence: therapeutic CTD PMID:32968928 NCBI chr12:53,962,312...53,974,954
Ensembl chr12:53,962,308...53,975,055
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO protein:decreased expression:spinal cord RGD PMID:21436843 RGD:5685686 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:15153526 PMID:16307444 PMID:19457078 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IGF1 insulin like growth factor 1 EXP CTD Direct Evidence: therapeutic CTD PMID:9452187 PMID:10203697 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGF2 insulin like growth factor 2 EXP CTD Direct Evidence: therapeutic CTD PMID:24667322 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
JBrowse link
G ITGAM integrin subunit alpha M EXP CTD Direct Evidence: therapeutic CTD PMID:32375810 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
JBrowse link
G KCNJ4 potassium inwardly rectifying channel subfamily J member 4 EXP CTD Direct Evidence: therapeutic CTD PMID:18619942 NCBI chr22:38,426,327...38,455,199
Ensembl chr22:38,426,327...38,455,199
JBrowse link
G KCNJ6 potassium inwardly rectifying channel subfamily J member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15256069 NCBI chr21:37,607,373...37,916,457
Ensembl chr21:37,607,373...38,121,345
JBrowse link
G LAMC1 laminin subunit gamma 1 EXP CTD Direct Evidence: therapeutic CTD PMID:30476904 NCBI chr 1:183,023,420...183,145,592
Ensembl chr 1:183,023,420...183,145,592
JBrowse link
G LEP leptin EXP CTD Direct Evidence: therapeutic CTD PMID:17993459 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LRP8 LDL receptor related protein 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18172410 NCBI chr 1:53,242,364...53,328,070
Ensembl chr 1:53,242,364...53,328,469
JBrowse link
G LRRK2 leucine rich repeat kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19741132 NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:lumbar spinal cord ventral horn RGD PMID:21436843 RGD:5685686 NCBI chr20:34,546,844...34,560,345
Ensembl chr20:34,546,854...34,560,345
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19911010 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19911010 NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G MIR204 microRNA 204 EXP CTD Direct Evidence: therapeutic CTD PMID:36177783 NCBI chr 9:70,809,975...70,810,084
Ensembl chr 9:70,809,975...70,810,084
JBrowse link
G MPZ myelin protein zero EXP CTD Direct Evidence: marker/mechanism CTD PMID:16676325 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968
JBrowse link
G MT1X metallothionein 1X ISO CTD Direct Evidence: therapeutic CTD PMID:11835189 NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
JBrowse link
G MT2A metallothionein 2A ISO CTD Direct Evidence: therapeutic CTD PMID:11835189 NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
JBrowse link
G NGF nerve growth factor EXP CTD Direct Evidence: therapeutic CTD PMID:22666365 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NGFR nerve growth factor receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:10436046 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
JBrowse link
G NOS1 nitric oxide synthase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9436549 PMID:10791088 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
JBrowse link
G NRG1 neuregulin 1 ISO mRNA:decreased expression:median nerve RGD PMID:28059646 RGD:405255649 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
JBrowse link
G NTF3 neurotrophin 3 EXP CTD Direct Evidence: therapeutic CTD PMID:8921280 PMID:8978711 NCBI chr12:5,430,332...5,495,299
Ensembl chr12:5,432,108...5,521,536
JBrowse link
G NTF4 neurotrophin 4 ISO
EXP
CTD Direct Evidence: therapeutic CTD PMID:8921280 NCBI chr19:49,058,284...49,065,035
Ensembl chr19:49,061,066...49,065,076
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:26629949 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G OTC ornithine transcarbamylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24161480 NCBI chr  X:38,327,684...38,422,928
Ensembl chr  X:38,327,598...38,422,908
JBrowse link
G OTX2 orthodenticle homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20573704 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
JBrowse link
G PANK1 pantothenate kinase 1 EXP CTD Direct Evidence: therapeutic CTD PMID:35589691 NCBI chr10:89,579,495...89,645,242
Ensembl chr10:89,579,497...89,645,242
JBrowse link
G PANK2 pantothenate kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20493851 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887
JBrowse link
G PARK7 Parkinsonism associated deglycase EXP CTD Direct Evidence: therapeutic CTD PMID:29649621 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505
JBrowse link
G PDE8B phosphodiesterase 8B IAGP ClinVar Annotator: match by term: Striatal Degeneration ClinVar PMID:25741868 NCBI chr 5:77,086,715...77,428,256
Ensembl chr 5:77,210,449...77,428,256
Ensembl chr 5:77,210,449...77,428,256
JBrowse link
G PINK1 PTEN induced kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24161480 NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511
JBrowse link
G PLAT plasminogen activator, tissue type EXP CTD Direct Evidence: marker/mechanism CTD PMID:19911010 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma EXP CTD Direct Evidence: therapeutic CTD PMID:18289512 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17687034 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
JBrowse link
G PSEN1 presenilin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19522546 PMID:33971107 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
G PTPN5 protein tyrosine phosphatase non-receptor type 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17360923 NCBI chr11:18,727,928...18,792,721
Ensembl chr11:18,727,928...18,792,721
JBrowse link
G SELENOP selenoprotein P EXP CTD Direct Evidence: marker/mechanism CTD PMID:18172410 NCBI chr 5:42,799,880...42,811,892
Ensembl chr 5:42,799,880...42,887,392
JBrowse link
G SIRT1 sirtuin 1 EXP CTD Direct Evidence: therapeutic CTD PMID:17581637 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SLC18A2 solute carrier family 18 member A2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18643795 NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430
JBrowse link
G SLC1A1 solute carrier family 1 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28703795 NCBI chr 9:4,490,468...4,587,469
Ensembl chr 9:4,490,468...4,587,469
JBrowse link
G SLC1A2 solute carrier family 1 member 2 EXP CTD Direct Evidence: therapeutic CTD PMID:22645130 NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063
JBrowse link
G SLC6A3 solute carrier family 6 member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12871582 PMID:18206288 NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440
JBrowse link
G SNCA synuclein alpha EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:21039522 PMID:23106139 PMID:27585560 PMID:34562559 PMID:38311184 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
JBrowse link
G SNCG synuclein gamma ISO RGD PMID:19246516 RGD:6478696 NCBI chr10:86,955,759...86,963,258
Ensembl chr10:86,958,599...86,963,258
JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17581637 PMID:19243126 PMID:24885036 PMID:24918341 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: therapeutic CTD PMID:11146106 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TF transferrin resistance ISO RGD PMID:17010319 RGD:1601536 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
JBrowse link
G TFEB transcription factor EB EXP CTD Direct Evidence: therapeutic CTD PMID:34562559 NCBI chr 6:41,683,978...41,736,223
Ensembl chr 6:41,683,978...41,736,259
JBrowse link
G TGFA transforming growth factor alpha EXP CTD Direct Evidence: therapeutic CTD PMID:9263032 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G TH tyrosine hydroxylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:12871582 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
JBrowse link
G TIGAR TP53 induced glycolysis regulatory phosphatase EXP CTD Direct Evidence: therapeutic CTD PMID:33359019 NCBI chr12:4,321,213...4,360,028
Ensembl chr12:4,307,763...4,360,028
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9710261 PMID:15153526 PMID:22921461 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TSC2 TSC complex subunit 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21419848 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO RGD PMID:11555633 RGD:1302546 NCBI chr13:75,549,502...75,606,020
Ensembl chr13:75,549,483...75,606,020
JBrowse link
G VEGFA vascular endothelial growth factor A treatment IDA associated with Diabetes Mellitus, Experimental; RGD PMID:26201024 RGD:11079183 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VPS54 VPS54 subunit of GARP complex EXP CTD Direct Evidence: marker/mechanism CTD PMID:19693665 NCBI chr 2:63,892,150...64,019,428
Ensembl chr 2:63,892,146...64,019,428
JBrowse link
G XDH xanthine dehydrogenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:9147382 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742
JBrowse link
G ZMAT3 zinc finger matrin-type 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17234339 NCBI chr 3:179,017,223...179,072,513
Ensembl chr 3:178,960,121...179,072,215
JBrowse link
G ZNF274 zinc finger protein 274 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18815271 NCBI chr19:58,183,061...58,213,562
Ensembl chr19:58,183,029...58,213,562
JBrowse link
Retrograde Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QB complement C1q B chain ISO mRNA:increased expression RGD PMID:16934480 RGD:1599508 NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
JBrowse link
G NGF nerve growth factor ISO RGD PMID:29609077 RGD:402463965 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NGFR nerve growth factor receptor ISO protein:decreased expression:forebrain RGD PMID:29609077 RGD:402463965 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO protein:decreased expression:forebrain RGD PMID:29609077 RGD:402463965 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
JBrowse link
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ClinVar Annotator: match by term: Skeletal dysplasia and progressive central nervous system degeneration, lethal ClinVar PMID:20425821 PMID:20577006 PMID:21573172 PMID:22791502 PMID:25741868 More... NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
striatal degeneration 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE10A phosphodiesterase 10A IAGP ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 2 OMIM
ClinVar
PMID:25741868 PMID:27058447 PMID:28492532 PMID:29159890 PMID:29165877 NCBI chr 6:165,327,289...165,988,052
Ensembl chr 6:165,327,287...165,988,117
JBrowse link
Striatal Degeneration, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE8B phosphodiesterase 8B EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:77,086,715...77,428,256
Ensembl chr 5:77,210,449...77,428,256
Ensembl chr 5:77,210,449...77,428,256
JBrowse link
Striatal Degeneration, Autosomal Dominant 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE8B phosphodiesterase 8B IAGP ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 1 ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:26475694 PMID:26769607 PMID:28492532 NCBI chr 5:77,086,715...77,428,256
Ensembl chr 5:77,210,449...77,428,256
Ensembl chr 5:77,210,449...77,428,256
JBrowse link
Subacute Combined Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40 CD40 molecule treatment ISO RGD PMID:16716410 PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CD40LG CD40 ligand treatment ISO protein:increased expression:cerebrospinal fluid RGD PMID:16716410 PMID:16716410 RGD:2313422, RGD:2313422 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIF4GD-DT MIF4GD divergent transcript IAGP ClinVar Annotator: match by term: Striatal necrosis, bilateral, and progressive polyneuropathy ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31295743 NCBI chr17:75,271,299...75,273,895
Ensembl chr17:75,271,369...75,273,895
JBrowse link
G SLC25A19 solute carrier family 25 member 19 IAGP ClinVar Annotator: match by term: Striatal necrosis, bilateral, and progressive polyneuropathy
ClinVar Annotator: match by term: BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY | ClinVar Annotator: match by term: Striatal necrosis, bilateral, and progressive polyneuropathy
ClinVar
OMIM
PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510
JBrowse link
Wallerian Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCAR2 cell cycle and apoptosis regulator 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24252177 NCBI chr 8:22,604,757...22,621,514
Ensembl chr 8:22,604,757...22,620,964
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:9030624 RGD:68774 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:9030624 RGD:68774 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
JBrowse link
G FCGR2A Fc gamma receptor IIa ISO mRNA:increased expression:sciatic nerve, macrophage RGD PMID:1533683 RGD:2316290 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G IL18 interleukin 18 ISO mRNA, protein:increased expression:macrophage, microglia: RGD PMID:11494369 RGD:4889526 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
JBrowse link
G MAG myelin associated glycoprotein ISO RGD PMID:12730963 RGD:9685301 NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807
JBrowse link
G NEFH neurofilament heavy chain ISO protein:decreased expression:neuron RGD PMID:10646539 RGD:9698439 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
JBrowse link
G NEFL neurofilament light chain ISO protein:decreased expression:neuron RGD PMID:10646539 RGD:9698439 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G NEFM neurofilament medium chain ISO protein:decreased expression:neuron RGD PMID:10646539 RGD:9698439 NCBI chr 8:24,913,761...24,919,093
Ensembl chr 8:24,913,758...24,919,098
JBrowse link
G NF1 neurofibromin 1 ISO protein:increased expression:sciatic nerve: RGD PMID:8847098 RGD:12790590 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 EXP CTD Direct Evidence: therapeutic CTD PMID:27822499 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501
JBrowse link
G NPY1R neuropeptide Y receptor Y1 ISO RGD PMID:10320723 RGD:1642322 NCBI chr 4:163,323,962...163,344,689
Ensembl chr 4:163,323,962...163,344,832
JBrowse link
G PGF placental growth factor ISO RGD PMID:21264946 RGD:6483582 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
JBrowse link
G PLA2G4A phospholipase A2 group IVA ISO RGD PMID:14664823 PMID:18718965 RGD:1642469, RGD:6482738 NCBI chr 1:186,828,949...186,988,981
Ensembl chr 1:186,828,949...186,988,981
JBrowse link
G PLA2G6 phospholipase A2 group VI ISO RGD PMID:18718965 RGD:6482738 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
JBrowse link
G RXRA retinoid X receptor alpha ISO mRNA:increased expression:sciatic nerve RGD PMID:16782282 RGD:1643108 NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585
JBrowse link
G SIRT1 sirtuin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24252177 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SRSF3 serine and arginine rich splicing factor 3 ISO associated with Sciatic Neuropathy RGD PMID:8568916 RGD:10059662 NCBI chr 6:36,594,362...36,605,600
Ensembl chr 6:36,594,353...36,605,911
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO mRNA:increased expression:optic (II) nerve, sciatic nerve RGD PMID:14997937 RGD:2302105 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO protein:decreased expression:sciatic nerve RGD PMID:14997937 RGD:2302105 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO mRNA, protein:increased expression:dorsal root ganglion RGD PMID:16683235 RGD:1600154 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO mRNA, protein:increased expression:dorsal root ganglion RGD PMID:16683235 RGD:1600154 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:18003835 RGD:2312723 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:18003835 RGD:2312723 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G UBE4B ubiquitination factor E4B EXP CTD Direct Evidence: therapeutic CTD PMID:27822499 NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
JBrowse link

Term paths to the root