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
Accession: DOID:9002955
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
alt_id: RDO:0000427
For additional species annotation, visit the
Alliance of Genome Resources .
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Adora1
adenosine A1 receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23437309
NCBI chr13:51,042,111...51,076,913
Ensembl chr13:51,042,248...51,076,852
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Adra1b
adrenoceptor alpha 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12871582
NCBI chr10:29,392,762...29,450,644
Ensembl chr10:29,392,762...29,450,644
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Agtpbp1
ATP/GTP binding carboxypeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16952463
NCBI chr17:5,510,009...5,614,416
Ensembl chr17:5,511,385...5,614,435
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Ank2
ankyrin 2
IEP
RGD
PMID:12949909
RGD:1599116
NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
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Aplp2
amyloid beta precursor like protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11784781
NCBI chr 8:32,298,526...32,328,821
Ensembl chr 8:32,298,532...32,328,839
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Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19522546
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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App
amyloid beta precursor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11784781 PMID:11800653 PMID:12396081 PMID:12963085 PMID:16951259 PMID:17600377 PMID:19631677 PMID:20111991 PMID:20359466 PMID:23726866 PMID:23827522
NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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Arg2
arginase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30618589
NCBI chr 6:102,311,097...102,338,406
Ensembl chr 6:102,311,116...102,338,520
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Atp13a2
ATPase cation transporting 13A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22847264
NCBI chr 5:159,512,208...159,531,631
Ensembl chr 5:159,512,285...159,531,637
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Atrn
attractin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16860906
NCBI chr 3:123,434,409...123,567,922
Ensembl chr 3:123,434,409...123,567,918
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Atxn3
ataxin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9635424
NCBI chr 6:125,817,420...125,853,461
Ensembl chr 6:125,819,640...125,853,461
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Bak1
BCL2-antagonist/killer 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19740541
NCBI chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
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Bax
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20385067
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:11146106 PMID:17967740
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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Bdnf
brain-derived neurotrophic factor
IEP ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:8921280 PMID:8978711 PMID:15372491 PMID:19457078 PMID:19686240 , PMID:18313855
RGD:10059347
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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Becn1
beclin 1
IEP
protein:increased expression:lumbar spinal cord ventral horn
RGD
PMID:21436843
RGD:5685686
NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
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Casp3
caspase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14999069
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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Cd4
Cd4 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9546790
NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
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Cd44
CD44 molecule (Indian blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15191797
NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
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Cd9
CD9 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19522546
NCBI chr 4:157,977,163...158,010,091
Ensembl chr 4:157,977,162...158,010,166
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12387456
NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
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Cdh2
cadherin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12387456
NCBI chr18:8,146,971...8,366,037
Ensembl chr18:8,146,971...8,360,684
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Cdk5r1
cyclin-dependent kinase 5 regulatory subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17581637
NCBI chr10:67,862,054...67,863,255
Ensembl chr10:67,862,054...67,863,255
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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21715663
NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
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Chrnb2
cholinergic receptor nicotinic beta 2 subunit
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21715663
NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
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Cnr1
cannabinoid receptor 1
IEP ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:11517236 PMID:24211273 , PMID:18313855
RGD:10059347
NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
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Cntf
ciliary neurotrophic factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15372491
NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
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Cp
ceruloplasmin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18804145
NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12387456
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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Dag1
dystroglycan 1
IEP
RGD
PMID:16228655
RGD:11537480
NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
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Ddc
dopa decarboxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19522546
NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
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Ddit4
DNA-damage-inducible transcript 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17005863
NCBI chr20:29,509,283...29,511,382
Ensembl chr20:29,509,289...29,511,382
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Eef1a2
eukaryotic translation elongation factor 1 alpha 2
IEP
protein:increased expression:CA1&CA3 fields of hippocampus:
RGD
PMID:8750861
RGD:10401216
NCBI chr 3:176,657,104...176,666,282
Ensembl chr 3:176,657,107...176,666,282
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Eif2s1
eukaryotic translation initiation factor 2 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16492139
NCBI chr 6:102,048,372...102,073,041
Ensembl chr 6:102,048,372...102,073,041
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Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17010629 PMID:17166730 PMID:19497871 PMID:30837834
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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Epor
erythropoietin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19497871
NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
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Ets2
ETS proto-oncogene 2, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19522546
NCBI chr11:36,075,709...36,092,495
Ensembl chr11:36,075,709...36,092,495
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F2
coagulation factor II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19969022
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10203697
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Ghrl
ghrelin and obestatin prepropeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19429016
NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
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Grin2d
glutamate ionotropic receptor NMDA type subunit 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19911010
NCBI chr 1:101,819,068...101,859,146
Ensembl chr 1:101,820,461...101,856,881
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Grm4
glutamate metabotropic receptor 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17446080
NCBI chr20:6,745,682...6,791,521
Ensembl chr20:6,745,682...6,791,519
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Grn
granulin precursor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21820214
NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
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Hspa5
heat shock protein family A (Hsp70) member 5
IEP
protein:decreased expression:spinal cord
RGD
PMID:21436843
RGD:5685686
NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15153526 PMID:16307444 PMID:19457078
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9452187 PMID:10203697
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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Igf2
insulin-like growth factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24667322
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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Itgam
integrin subunit alpha M
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:32375810
NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
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Kcnj4
potassium inwardly-rectifying channel, subfamily J, member 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18619942
NCBI chr 7:120,717,378...120,744,602
Ensembl chr 7:120,717,375...120,744,602
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Kcnj6
potassium inwardly-rectifying channel, subfamily J, member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15256069
NCBI chr11:35,011,007...35,262,362
Ensembl chr11:35,024,196...35,099,383
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Lep
leptin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17993459
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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Lrp8
LDL receptor related protein 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18172410
NCBI chr 5:127,404,348...127,476,636
Ensembl chr 5:127,404,450...127,476,641
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Lrrk2
leucine-rich repeat kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19741132
NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
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Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
IEP
protein:increased expression:lumbar spinal cord ventral horn
RGD
PMID:21436843
RGD:5685686
NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
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Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19911010
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
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Mapk3
mitogen activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19911010
NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
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Mpz
myelin protein zero
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16676325
NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
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Mt1
metallothionein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11835189
NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
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Mt2A
metallothionein 2A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11835189
NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
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Ngf
nerve growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22666365
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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Ngfr
nerve growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10436046
NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
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Nos1
nitric oxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9436549 PMID:10791088
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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Ntf3
neurotrophin 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:8921280 PMID:8978711
NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
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Ntf4
neurotrophin 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:8921280
NCBI chr 1:101,405,314...101,408,145
Ensembl chr 1:101,405,314...101,408,145
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Ogg1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26629949
NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
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Otc
ornithine transcarbamylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24161480
NCBI chr X:13,524,804...13,601,074
Ensembl chr X:13,524,607...13,601,069
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Otx2
orthodenticle homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20573704
NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
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Pank2
pantothenate kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20493851
NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
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Park7
Parkinsonism associated deglycase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29649621
NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
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Pde8b
phosphodiesterase 8B
ISO
ClinVar Annotator: match by term: Striatal Degeneration
ClinVar
NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
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Pink1
PTEN induced kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24161480
NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19911010
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18289512
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17687034
NCBI chr 1:48,880,015...50,069,998
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Psen1
presenilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19522546
NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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Ptpn5
protein tyrosine phosphatase, non-receptor type 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17360923
NCBI chr 1:103,197,918...103,258,309
Ensembl chr 1:103,197,915...103,256,823
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Selenop
selenoprotein P
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18172410
NCBI chr 2:53,105,912...53,116,198
Ensembl chr 2:53,109,684...53,114,858
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17581637
NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
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Slc18a2
solute carrier family 18 member A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18643795
NCBI chr 1:280,397,831...280,457,968
Ensembl chr 1:280,423,079...280,457,148
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Slc1a1
solute carrier family 1 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28703795
NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
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Slc1a2
solute carrier family 1 member 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22645130
NCBI chr 3:92,518,679...92,665,731
Ensembl chr 3:92,640,752...92,665,644
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Slc6a3
solute carrier family 6 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12871582 PMID:18206288
NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
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Snca
synuclein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21039522 PMID:23106139 PMID:27585560
NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
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Sncg
synuclein, gamma
ISO
RGD
PMID:19246516
RGD:6478696
NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17581637 PMID:19243126 PMID:24885036
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11146106
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Tf
transferrin
resistance
IDA
RGD
PMID:17010319
RGD:1601536
NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
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Tgfa
transforming growth factor alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9263032
NCBI chr 4:117,961,877...118,045,923
Ensembl chr 4:117,962,319...118,046,344
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Th
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12871582
NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9710261 PMID:15153526 PMID:22921461
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tsc2
TSC complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21419848
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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Uchl3
ubiquitin C-terminal hydrolase L3
ISO
RGD
PMID:11555633
RGD:1302546
NCBI chr15:86,153,624...86,198,127
Ensembl chr15:86,153,628...86,198,127
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Vegfa
vascular endothelial growth factor A
treatment
ISO
associated with Diabetes Mellitus, Experimental;
RGD
PMID:26201024
RGD:11079183
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Vps54
VPS54 subunit of GARP complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19693665
NCBI chr14:106,153,407...106,207,715
Ensembl chr14:106,153,575...106,207,658
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Wdr41
WD repeat domain 41
ISO
ClinVar Annotator: match by term: Striatal Degeneration
ClinVar
NCBI chr 2:24,668,108...24,717,280
Ensembl chr 2:24,668,116...24,717,267
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Xdh
xanthine dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9147382
NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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Zfp110
zinc finger protein 110
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18815271
NCBI chr 1:65,741,769...65,757,709
Ensembl chr 1:65,742,089...65,756,528
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Zmat3
zinc finger, matrin type 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17234339
NCBI chr 2:118,715,229...118,746,109
Ensembl chr 2:118,721,334...118,745,766
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C1qb
complement C1q B chain
IEP
mRNA:increased expression
RGD
PMID:16934480
RGD:1599508
NCBI chr 5:155,246,444...155,251,995
Ensembl chr 5:155,246,447...155,252,003
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Pde8b
phosphodiesterase 8B
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
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Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 1
ClinVar
PMID:25741868
NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
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Pde8b
phosphodiesterase 8B
ISO
ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 1 ClinVar Annotator: match by OMIM:609161
OMIM ClinVar
PMID:20085714 PMID:24033266 PMID:25741868 PMID:26475694 PMID:26769607 PMID:28492532
NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
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Wdr41
WD repeat domain 41
ISO
ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 1
ClinVar
NCBI chr 2:24,668,108...24,717,280
Ensembl chr 2:24,668,116...24,717,267
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Pde10a
phosphodiesterase 10A
ISO
ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 2
ClinVar OMIM
PMID:25741868 PMID:27058447 PMID:29159890
NCBI chr 1:52,360,296...52,544,448
Ensembl chr 1:52,360,296...52,544,450
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Cd40
CD40 molecule
treatment
IMP IDA
RGD
PMID:16716410 , PMID:16716410
RGD:2313422 , RGD:2313422
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Cd40lg
CD40 ligand
treatment
IEP IDA
protein:increased expression:cerebrospinal fluid
RGD
PMID:16716410 , PMID:16716410
RGD:2313422 , RGD:2313422
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Slc25a19
solute carrier family 25 member 19
ISO
ClinVar Annotator: match by OMIM:613710 ClinVar Annotator: match by term: Striatal necrosis, bilateral, and progressive polyneuropathy
ClinVar OMIM
PMID:19798730
NCBI chr10:104,166,594...104,179,523
Ensembl chr10:104,166,598...104,179,523
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Ccar2
cell cycle and apoptosis regulator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24252177
NCBI chr15:51,818,887...51,834,443
Ensembl chr15:51,818,897...51,834,030
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Erbb2
erb-b2 receptor tyrosine kinase 2
IEP
RGD
PMID:9030624
RGD:68774
NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
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Erbb3
erb-b2 receptor tyrosine kinase 3
IEP
RGD
PMID:9030624
RGD:68774
NCBI chr 7:2,989,202...3,010,610
Ensembl chr 7:2,989,340...3,010,350
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Fcgr2a
Fc fragment of IgG receptor IIa
IEP
mRNA:increased expression:sciatic nerve, macrophage
RGD
PMID:1533683
RGD:2316290
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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Il18
interleukin 18
IEP
mRNA, protein:increased expression:macrophage, microglia:
RGD
PMID:11494369
RGD:4889526
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Mag
myelin-associated glycoprotein
IEP
RGD
PMID:12730963
RGD:9685301
NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
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Nefh
neurofilament heavy
IEP
protein:decreased expression:neuron
RGD
PMID:10646539
RGD:9698439
NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
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Nefl
neurofilament light
IEP
protein:decreased expression:neuron
RGD
PMID:10646539
RGD:9698439
NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
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Nefm
neurofilament medium
IEP
protein:decreased expression:neuron
RGD
PMID:10646539
RGD:9698439
NCBI chr15:44,855,307...44,860,604
Ensembl chr15:44,855,310...44,860,604
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Nf1
neurofibromin 1
IEP
protein:increased expression:sciatic nerve:
RGD
PMID:8847098
RGD:12790590
NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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Nmnat1
nicotinamide nucleotide adenylyltransferase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27822499
NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254
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Npy1r
neuropeptide Y receptor Y1
IEP
RGD
PMID:10320723
RGD:1642322
NCBI chr16:24,779,480...24,789,131
Ensembl chr16:24,779,477...24,788,740
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Pgf
placental growth factor
ISO
RGD
PMID:21264946
RGD:6483582
NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
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Pla2g4a
phospholipase A2 group IVA
IEP ISO
RGD
PMID:14664823 , PMID:18718965
RGD:1642469 , RGD:6482738
NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
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Pla2g6
phospholipase A2 group VI
ISO
RGD
PMID:18718965
RGD:6482738
NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
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Rxra
retinoid X receptor alpha
IEP
mRNA:increased expression:sciatic nerve
RGD
PMID:16782282
RGD:1643108
NCBI chr 3:6,272,560...6,295,354
Ensembl chr 3:6,211,789...6,295,908
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24252177
NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
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Srsf3
serine and arginine rich splicing factor 3
IEP
associated with Sciatic Neuropathy
RGD
PMID:8568916
RGD:10059662
NCBI chr20:6,288,285...6,298,218
Ensembl chr20:6,288,267...6,298,213
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Tgfb1
transforming growth factor, beta 1
IEP
mRNA:increased expression:optic (II) nerve, sciatic nerve
RGD
PMID:14997937
RGD:2302105
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Tgfb2
transforming growth factor, beta 2
IEP
protein:decreased expression:sciatic nerve
RGD
PMID:14997937
RGD:2302105
NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
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Timp2
TIMP metallopeptidase inhibitor 2
IEP
mRNA, protein:increased expression:dorsal root ganglion
RGD
PMID:16683235
RGD:1600154
NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
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Timp3
TIMP metallopeptidase inhibitor 3
IEP
mRNA, protein:increased expression:dorsal root ganglion
RGD
PMID:16683235
RGD:1600154
NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:18003835
RGD:2312723
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:18003835
RGD:2312723
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Ube4b
ubiquitination factor E4B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27822499
NCBI chr 5:166,156,033...166,259,069
Ensembl chr 5:166,156,033...166,259,069
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