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
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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
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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
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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
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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
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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
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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
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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
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APP
amyloid beta precursor protein
EXP
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 PMID:33971107 More...
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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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
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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
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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
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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
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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
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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
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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
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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 PMID:18313855 More...
RGD:10059347
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:28492532 More...
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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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
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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
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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
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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
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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
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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
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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 PMID:31295743 PMID:31506564 PMID:34587972 PMID:35102031 More...
NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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