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
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23437309
NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,963...134,163,169
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Adra1b
adrenergic receptor, alpha 1b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12871582
NCBI chr11:43,665,432...43,792,076
Ensembl chr11:43,665,433...43,792,037
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Agtpbp1
ATP/GTP binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16952463
NCBI chr13:59,597,348...59,705,184
Ensembl chr13:59,593,556...59,733,041
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Angpt1
angiopoietin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30476904
NCBI chr15:42,288,063...42,540,373
Ensembl chr15:42,288,119...42,540,373
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Ank2
ankyrin 2, brain
ISO
RGD
PMID:12949909
RGD:1599116
NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999
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Aplp2
amyloid beta precursor-like protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11784781
NCBI chr 9:31,060,853...31,123,144
Ensembl chr 9:31,060,853...31,123,111
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Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19522546
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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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 PMID:33971107 More...
NCBI chr16:84,751,236...84,972,187
Ensembl chr16:84,746,573...84,970,654
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Arg2
arginase type II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30618589
NCBI chr12:79,177,562...79,203,075
Ensembl chr12:79,177,551...79,203,075
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Atp13a2
ATPase type 13A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22847264
NCBI chr 4:140,711,812...140,734,641
Ensembl chr 4:140,714,184...140,734,641
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Atrn
attractin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16860906
NCBI chr 2:130,734,363...130,872,249
Ensembl chr 2:130,748,415...130,872,253
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Atxn3
ataxin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9635424
NCBI chr12:101,885,160...101,928,139
Ensembl chr12:101,885,160...101,924,505
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Bak1
BCL2-antagonist/killer 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19740541
NCBI chr17:27,238,786...27,247,601
Ensembl chr17:27,238,784...27,247,983
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Bax
BCL2-associated X protein
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20385067
NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
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Bcl2
B cell leukemia/lymphoma 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:11146106 PMID:17967740
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Bdnf
brain derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:8921280 PMID:8978711 PMID:15372491 PMID:19457078 PMID:19686240 PMID:18313855 More...
RGD:10059347
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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Becn1
beclin 1, autophagy related
ISO
protein:increased expression:lumbar spinal cord ventral horn
RGD
PMID:21436843
RGD:5685686
NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112
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C9orf72
C9orf72, member of C9orf72-SMCR8 complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33661518
NCBI chr 4:35,191,285...35,226,153
Ensembl chr 4:35,191,285...35,226,175
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Casp3
caspase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14999069
NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
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Cd4
CD4 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9546790
NCBI chr 6:124,841,656...124,865,210
Ensembl chr 6:124,841,655...124,865,184
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Cd44
CD44 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15191797
NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010
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Cd9
CD9 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19522546
NCBI chr 6:125,437,229...125,471,723
Ensembl chr 6:125,437,229...125,471,754
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12387456
NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878
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Cdh2
cadherin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12387456
NCBI chr18:16,721,934...16,942,303
Ensembl chr18:16,721,934...16,942,303
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Cdk5r1
cyclin dependent kinase 5, regulatory subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17581637
NCBI chr11:80,367,849...80,372,010
Ensembl chr11:80,367,849...80,372,010
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Chrna7
cholinergic receptor, nicotinic, alpha polypeptide 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21715663
NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317
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Chrnb2
cholinergic receptor nicotinic beta 2 subunit
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21715663
NCBI chr 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939
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Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:11517236 PMID:24211273 PMID:18313855
RGD:10059347
NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831
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Cntf
ciliary neurotrophic factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15372491
NCBI chr19:12,740,892...12,742,996
Ensembl chr19:12,741,024...12,742,996
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Cp
ceruloplasmin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18804145
NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12387456
NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
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Dag1
dystroglycan 1
ISO
RGD
PMID:16228655
RGD:11537480
NCBI chr 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157
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Ddc
dopa decarboxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19522546
NCBI chr11:11,764,101...11,848,144
Ensembl chr11:11,764,101...11,848,144
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Ddit4
DNA-damage-inducible transcript 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17005863
NCBI chr10:59,785,497...59,787,592
Ensembl chr10:59,785,491...59,787,656
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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 chr 2:180,783,551...180,798,808
Ensembl chr 2:180,789,446...180,798,807
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Eif2s1
eukaryotic translation initiation factor 2, subunit 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16492139
NCBI chr12:78,908,846...78,933,784
Ensembl chr12:78,908,593...78,933,784
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Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17010629 PMID:17166730 PMID:19497871 PMID:30837834
NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
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Epor
erythropoietin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19497871
NCBI chr 9:21,870,193...21,874,915
Ensembl chr 9:21,870,193...21,874,802
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Ets2
E26 avian leukemia oncogene 2, 3' domain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19522546
NCBI chr16:95,503,274...95,522,093
Ensembl chr16:95,502,942...95,522,095
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F2
coagulation factor II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19969022
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10203697
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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Ghrl
ghrelin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19429016
NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
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Grin2d
glutamate receptor, ionotropic, NMDA2D (epsilon 4)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19911010
NCBI chr 7:45,481,307...45,520,708
Ensembl chr 7:45,481,307...45,527,802
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Grm4
glutamate receptor, metabotropic 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17446080
NCBI chr17:27,641,361...27,732,800
Ensembl chr17:27,641,361...27,740,377
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Grn
granulin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21820214
NCBI chr11:102,321,333...102,327,635
Ensembl chr11:102,321,141...102,327,874
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Hotair
HOX transcript antisense RNA (non-protein coding)
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:32968928
NCBI chr15:102,852,497...102,856,381
Ensembl chr15:102,852,494...102,862,817
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Hspa5
heat shock protein 5
ISO
protein:decreased expression:spinal cord
RGD
PMID:21436843
RGD:5685686
NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15153526 PMID:16307444 PMID:19457078
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9452187 PMID:10203697
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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Igf2
insulin-like growth factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24667322
NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553
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Itgam
integrin alpha M
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:32375810
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
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Kcnj4
potassium inwardly-rectifying channel, subfamily J, member 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18619942
NCBI chr15:79,364,427...79,396,712
Ensembl chr15:79,367,915...79,389,442
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Kcnj6
potassium inwardly-rectifying channel, subfamily J, member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15256069
NCBI chr16:94,545,839...94,798,719
Ensembl chr16:94,549,495...94,798,560
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Lamc1
laminin, gamma 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30476904
NCBI chr 1:153,094,668...153,208,532
Ensembl chr 1:153,094,668...153,208,532
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Lep
leptin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17993459
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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Lrp8
low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18172410
NCBI chr 4:107,659,337...107,734,037
Ensembl chr 4:107,659,066...107,734,037
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Lrrk2
leucine-rich repeat kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19741132
NCBI chr15:91,556,994...91,700,327
Ensembl chr15:91,557,378...91,700,323
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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 chr 2:155,118,284...155,119,993
Ensembl chr 2:155,118,217...155,119,993
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Mapk1
mitogen-activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19911010
NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317
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Mapk3
mitogen-activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19911010
NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
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Mir204
microRNA 204
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:36177783
NCBI chr19:22,727,969...22,728,036
Ensembl chr19:22,727,969...22,728,036
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Mpz
myelin protein zero
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16676325
NCBI chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699
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Mt1
metallothionein 1
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:11835189
NCBI chr 8:94,905,214...94,906,955
Ensembl chr 8:94,905,710...94,906,955
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Mt2
metallothionein 2
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:11835189
NCBI chr 8:94,899,246...94,900,195
Ensembl chr 8:94,899,292...94,900,196
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Ngf
nerve growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22666365
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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Ngfr
nerve growth factor receptor (TNFR superfamily, member 16)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10436046
NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
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Nos1
nitric oxide synthase 1, neuronal
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9436549 PMID:10791088
NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905
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Nrg1
neuregulin 1
ISO
mRNA:decreased expression:median nerve
RGD
PMID:28059646
RGD:405255649
NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825 Ensembl chr 8:32,304,579...33,374,825
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Ntf3
neurotrophin 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:8921280 PMID:8978711
NCBI chr 6:126,078,375...126,143,703
Ensembl chr 6:126,078,375...126,143,873
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Ntf5
neurotrophin 5
ISO EXP
CTD Direct Evidence: therapeutic
CTD
PMID:8921280
NCBI chr 7:45,063,119...45,066,603
Ensembl chr 7:45,063,119...45,066,603
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Ogg1
8-oxoguanine DNA-glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26629949
NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029
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Otc
ornithine transcarbamylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24161480
NCBI chr X:10,118,584...10,187,275
Ensembl chr X:10,118,544...10,187,263
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Otx2
orthodenticle homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20573704
NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276
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Pank1
pantothenate kinase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:35589691
NCBI chr19:34,784,335...34,862,420
Ensembl chr19:34,784,340...34,856,855
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Pank2
pantothenate kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20493851
NCBI chr 2:131,103,928...131,141,108
Ensembl chr 2:131,104,415...131,141,108
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Park7
Parkinson disease (autosomal recessive, early onset) 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29649621
NCBI chr 4:150,981,590...150,994,378
Ensembl chr 4:150,981,590...150,998,894
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Pde8b
phosphodiesterase 8B
ISO
ClinVar Annotator: match by term: Striatal Degeneration
ClinVar
PMID:25741868
NCBI chr13:95,160,962...95,386,904
Ensembl chr13:95,160,962...95,386,844
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Pink1
PTEN induced putative kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24161480
NCBI chr 4:138,040,718...138,053,631
Ensembl chr 4:138,040,720...138,053,618
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Plat
plasminogen activator, tissue
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19911010
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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Pparg
peroxisome proliferator activated receptor gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18289512
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17687034
NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248
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Psen1
presenilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19522546 PMID:33971107
NCBI chr12:83,734,926...83,781,869
Ensembl chr12:83,734,926...83,781,973
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Ptpn5
protein tyrosine phosphatase, non-receptor type 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17360923
NCBI chr 7:46,727,543...46,783,774
Ensembl chr 7:46,727,543...46,783,432
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Selenop
selenoprotein P
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18172410
NCBI chr15:3,300,249...3,309,992
Ensembl chr15:3,298,029...3,309,990
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17581637
NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
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Slc18a2
solute carrier family 18 (vesicular monoamine), member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18643795
NCBI chr19:59,249,310...59,284,444
Ensembl chr19:59,249,328...59,284,444
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Slc1a1
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28703795
NCBI chr19:28,812,535...28,891,360
Ensembl chr19:28,812,449...28,891,360
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Slc1a2
solute carrier family 1 (glial high affinity glutamate transporter), member 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22645130
NCBI chr 2:102,488,584...102,621,129
Ensembl chr 2:102,489,004...102,621,129
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Slc6a3
solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12871582 PMID:18206288
NCBI chr13:73,684,270...73,726,791
Ensembl chr13:73,684,866...73,726,791
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Snca
synuclein, alpha
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:21039522 PMID:23106139 PMID:27585560 PMID:34562559 PMID:38311184
NCBI chr 6:60,708,557...60,806,839
Ensembl chr 6:60,708,559...60,806,839
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Sncg
synuclein, gamma
IMP
RGD
PMID:19246516
RGD:6478696
NCBI chr14:34,092,231...34,096,626
Ensembl chr14:34,092,231...34,096,746
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Sod1
superoxide dismutase 1, soluble
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17581637 PMID:19243126 PMID:24885036 PMID:24918341
NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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Sod2
superoxide dismutase 2, mitochondrial
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11146106
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Tfeb
transcription factor EB
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34562559
NCBI chr17:48,047,962...48,103,341
Ensembl chr17:48,047,955...48,103,344
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Tgfa
transforming growth factor alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9263032
NCBI chr 6:86,172,020...86,252,726
Ensembl chr 6:86,172,205...86,252,701
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Th
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12871582
NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865
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Tigar
Trp53 induced glycolysis regulatory phosphatase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33359019
NCBI chr 6:127,062,079...127,086,564
Ensembl chr 6:127,062,079...127,086,520
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9710261 PMID:15153526 PMID:22921461
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Trf
transferrin
resistance
ISO
RGD
PMID:17010319
RGD:1601536
NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
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Tsc2
TSC complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21419848
NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604
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Uchl3
ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
IMP
RGD
PMID:11555633
RGD:1302546
NCBI chr14:101,891,387...101,933,561
Ensembl chr14:101,891,403...101,933,561
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Vegfa
vascular endothelial growth factor A
treatment
ISO
associated with Diabetes Mellitus, Experimental;
RGD
PMID:26201024
RGD:11079183
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Vps54
VPS54 GARP complex subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19693665
NCBI chr11:21,189,032...21,271,133
Ensembl chr11:21,189,281...21,271,136
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Xdh
xanthine dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9147382
NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191
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Zfp110
zinc finger protein 110
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18815271
NCBI chr 7:12,565,225...12,584,513
Ensembl chr 7:12,568,688...12,584,504
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Zmat3
zinc finger matrin type 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17234339
NCBI chr 3:32,388,941...32,419,814
Ensembl chr 3:32,388,941...32,420,163
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C1qb
complement component 1, q subcomponent, beta polypeptide
ISO
mRNA:increased expression
RGD
PMID:16934480
RGD:1599508
NCBI chr 4:136,607,437...136,613,511
Ensembl chr 4:136,607,440...136,613,498
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Ngf
nerve growth factor
ISO
RGD
PMID:29609077
RGD:402463965
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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Ngfr
nerve growth factor receptor (TNFR superfamily, member 16)
ISO
protein:decreased expression:forebrain
RGD
PMID:29609077
RGD:402463965
NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
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Ntrk1
neurotrophic tyrosine kinase, receptor, type 1
ISO
protein:decreased expression:forebrain
RGD
PMID:29609077
RGD:402463965
NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
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 chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482
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Pde10a
phosphodiesterase 10A
ISO
ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 2
OMIM ClinVar
PMID:25741868 PMID:27058447 PMID:28492532 PMID:29159890 PMID:29165877
NCBI chr17:8,742,719...9,205,480
Ensembl chr17:8,744,204...9,205,480
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Pde8b
phosphodiesterase 8B
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr13:95,160,962...95,386,904
Ensembl chr13:95,160,962...95,386,844
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Pde8b
phosphodiesterase 8B
ISO
ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 1
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:26475694 PMID:26769607 PMID:28492532
NCBI chr13:95,160,962...95,386,904
Ensembl chr13:95,160,962...95,386,844
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Cd40
CD40 antigen
treatment
ISO
RGD
PMID:16716410 PMID:16716410
RGD:2313422 , RGD:2313422
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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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:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Slc25a19
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
ISO
ClinVar Annotator: match by term: BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY | ClinVar Annotator: match by term: Striatal necrosis, bilateral, and progressive polyneuropathy
OMIM ClinVar
PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31295743 PMID:31506564 PMID:34587972 PMID:35102031 More...
NCBI chr11:115,504,991...115,519,122
Ensembl chr11:115,505,004...115,519,121
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Ccar2
cell cycle activator and apoptosis regulator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24252177
NCBI chr14:70,375,617...70,391,272
Ensembl chr14:70,375,613...70,391,260
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:9030624
RGD:68774
NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542
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Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
RGD
PMID:9030624
RGD:68774
NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521
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Fcgr3
Fc receptor, IgG, low affinity III
ISO
mRNA:increased expression:sciatic nerve, macrophage
RGD
PMID:1533683
RGD:2316290
NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504
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Il18
interleukin 18
ISO
mmRNA, protein:increased expression:macrophage, microglia:
RGD
PMID:11494369
RGD:4889526
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Mag
myelin-associated glycoprotein
ISO
RGD
PMID:12730963
RGD:9685301
NCBI chr 7:30,598,600...30,614,347
Ensembl chr 7:30,598,601...30,614,298
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Nefh
neurofilament, heavy polypeptide
ISO
protein:decreased expression:neuron
RGD
PMID:10646539
RGD:9698439
NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064
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Nefl
neurofilament, light polypeptide
ISO
protein:decreased expression:neuron
RGD
PMID:10646539
RGD:9698439
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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Nefm
neurofilament, medium polypeptide
ISO
protein:decreased expression:neuron
RGD
PMID:10646539
RGD:9698439
NCBI chr14:68,356,994...68,362,453
Ensembl chr14:68,320,039...68,362,295
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Nf1
neurofibromin 1
ISO
protein:increased expression:sciatic nerve:
RGD
PMID:8847098
RGD:12790590
NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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Nmnat1
nicotinamide nucleotide adenylyltransferase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27822499
NCBI chr 4:149,552,026...149,569,667
Ensembl chr 4:149,552,029...149,569,659
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Npy1r
neuropeptide Y receptor Y1
ISO
RGD
PMID:10320723
RGD:1642322
NCBI chr 8:67,149,595...67,159,452
Ensembl chr 8:67,149,844...67,159,444
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Pgf
placental growth factor
IMP
RGD
PMID:21264946
RGD:6483582
NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564
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Pla2g4a
phospholipase A2, group IVA (cytosolic, calcium-dependent)
ISO IMP
RGD
PMID:14664823 PMID:18718965
RGD:1642469 , RGD:6482738
NCBI chr 1:149,705,369...149,837,041
Ensembl chr 1:149,705,369...149,837,041
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Pla2g6
phospholipase A2, group VI
IMP
RGD
PMID:18718965
RGD:6482738
NCBI chr15:79,170,428...79,212,915
Ensembl chr15:79,170,428...79,212,590
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Rxra
retinoid X receptor alpha
ISO
mRNA:increased expression:sciatic nerve
RGD
PMID:16782282
RGD:1643108
NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24252177
NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
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Srsf3
serine and arginine-rich splicing factor 3
ISO
associated with Sciatic Neuropathy
RGD
PMID:8568916
RGD:10059662
NCBI chr17:29,251,634...29,262,346
Ensembl chr17:29,251,602...29,262,347
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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 chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tgfb2
transforming growth factor, beta 2
ISO
protein:decreased expression:sciatic nerve
RGD
PMID:14997937
RGD:2302105
NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186
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Timp2
tissue inhibitor of metalloproteinase 2
ISO
mRNA, protein:increased expression:dorsal root ganglion
RGD
PMID:16683235
RGD:1600154
NCBI chr11:118,191,887...118,246,237
Ensembl chr11:118,191,887...118,246,566
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Timp3
tissue inhibitor of metalloproteinase 3
ISO
mRNA, protein:increased expression:dorsal root ganglion
RGD
PMID:16683235
RGD:1600154
NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370
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Tlr2
toll-like receptor 2
IAGP
RGD
PMID:18003835
RGD:2312723
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
IAGP
RGD
PMID:18003835
RGD:2312723
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Ube4b
ubiquitination factor E4B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27822499
NCBI chr 4:149,412,873...149,512,618
Ensembl chr 4:149,412,873...149,511,206
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