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: Heavy Metal Poisoning, Nervous System
Accession: DOID:9001363
browse the term
Definition: Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peripheral, or autonomic nervous system injuries.
Synonyms: exact_synonym: Poisoning, Heavy Metals, Nervous System
primary_id: MESH:D020260 ; RDO:0007319
xref: EFO:1001815
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Il16
interleukin 16
IEP
protein:increased expression:brain
RGD
PMID:14698845
RGD:1354526
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
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Akap9
A-kinase anchoring protein 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
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Alad
aminolevulinate dehydratase
IEP
protein:decreased activity:blood (rat)
RGD
PMID:19022878
RGD:4144202
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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Aqp9
aquaporin 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19805235
NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
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As3mt
arsenite methyltransferase
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:21447609 PMID:26366667 PMID:35226250
NCBI chr 1:245,595,939...245,628,921
Ensembl chr 1:245,596,108...245,627,872
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Atxn7
ataxin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr15:11,117,360...11,262,818
Ensembl chr15:11,118,886...11,263,106
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Ccl20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Ccl4
C-C motif chemokine ligand 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccrl2
C-C motif chemokine receptor like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 8:111,034,279...111,036,914
Ensembl chr 8:111,034,279...111,036,664
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Cd44
CD44 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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Cd83
CD83 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr17:20,887,309...20,907,009
Ensembl chr17:20,887,309...20,907,083
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
protein:increased expression:skin:
RGD
PMID:11860939
RGD:8662429
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22521605
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12569548
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Ercc3
ERCC excision repair 3, TFIIH core complex helicase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12569548
NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
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Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12569548
NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369 Ensembl chr10:2,419,038...2,448,369
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Gadd45b
growth arrest and DNA-damage-inducible, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 7:8,778,004...8,780,306
Ensembl chr 7:8,778,007...8,780,046
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Golga4
golgin A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 8:118,208,200...118,285,003
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Gsr
glutathione-disulfide reductase
IEP
RGD
PMID:25209654
RGD:10401880
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Hspa1b
heat shock protein family A (Hsp70) member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
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Id2
inhibitor of DNA binding 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 6:41,740,556...41,742,393
Ensembl chr 6:41,728,946...41,744,400
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Ier3
immediate early response 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr20:2,928,378...2,929,582
Ensembl chr20:2,928,378...2,929,583
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Igf2bp2
insulin-like growth factor 2 mRNA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr11:78,874,402...78,974,392
Ensembl chr11:78,874,414...78,974,377
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Inpp5a
inositol polyphosphate-5-phosphatase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25759212
NCBI chr 1:194,190,086...194,380,429
Ensembl chr 1:194,190,393...194,380,428
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Kcnj2
potassium inwardly-rectifying channel, subfamily J, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445
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Krt10
keratin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19953893
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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Mettl14
methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821
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Minpp1
multiple inositol-polyphosphate phosphatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 1:230,354,483...230,379,730
Ensembl chr 1:230,354,438...230,379,730
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Mir145
microRNA 145
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29705342
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Mir155
microRNA 155
ISO
miRNA:increased expression:serum
RGD
PMID:27913196
RGD:25314296
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718
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Mt1
metallothionein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19953893
NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049 Ensembl chr X:10,826,032...10,827,049
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24384392
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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N4bp2l2
NEDD4 binding protein 2-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr12:137,342...200,292
Ensembl chr12:103,590...197,784
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Ndufb8
NADH:ubiquinone oxidoreductase subunit B8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 1:243,408,656...243,413,715
Ensembl chr 1:243,408,619...243,413,817
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nr4a2
nuclear receptor subfamily 4, group A, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
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Pde4b
phosphodiesterase 4B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 5:116,799,819...117,369,155
Ensembl chr 5:116,799,971...117,367,696
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Peli1
pellino E3 ubiquitin protein ligase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr14:95,254,274...95,309,168
Ensembl chr14:95,254,589...95,308,285 Ensembl chr 1:95,254,589...95,308,285
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Pfkfb3
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr17:66,983,629...67,064,702
Ensembl chr17:66,983,686...67,063,125
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Pias1
protein inhibitor of activated STAT, 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905
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Pnp
purine nucleoside phosphorylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18414634
NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986
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Ptx3
pentraxin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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Rfx3
regulatory factor X3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 1:225,449,872...225,709,622
Ensembl chr 1:225,456,187...225,709,402
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Rgs1
regulator of G-protein signaling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr13:56,018,546...56,022,889
Ensembl chr13:56,018,554...56,022,984
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Rnf20
ring finger protein 20
ISO
protein:increased expression:urine (human)
RGD
PMID:21136906
RGD:9831407
NCBI chr 5:63,976,063...64,001,754
Ensembl chr 5:63,976,045...64,001,754
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Rufy3
RUN and FYVE domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr14:19,431,530...19,506,476
Ensembl chr14:19,432,524...19,507,004
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Sfpq
splicing factor proline and glutamine rich
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 5:139,338,034...139,353,476
Ensembl chr 5:139,338,075...139,353,472
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Skil
SKI-like proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 2:112,247,047...112,275,176
Ensembl chr 2:112,247,051...112,275,080
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sox18
SRY-box transcription factor 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
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Srp68
signal recognition particle 68
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr10:101,481,213...101,508,035
Ensembl chr10:101,481,212...101,508,035
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Ssbp1
single stranded DNA binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 4:69,266,024...69,276,135
Ensembl chr 4:69,266,102...69,276,135
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Taf1d
TATA-box binding protein associated factor, RNA polymerase I subunit D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 8:12,146,511...12,156,647
Ensembl chr 8:12,146,605...12,156,618
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Tnfaip6
TNF alpha induced protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
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Tnik
TRAF2 and NCK interacting kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 2:111,184,352...111,587,993
Ensembl chr 2:111,184,387...111,580,750
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18621066 PMID:19203779
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tra2a
transformer 2 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 4:78,220,838...78,239,737
Ensembl chr 4:78,220,883...78,239,712
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Trappc10
trafficking protein particle complex subunit 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
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Ube2e1
ubiquitin-conjugating enzyme E2E 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr15:7,439,751...7,493,410
Ensembl chr15:7,439,759...7,493,400
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Uso1
USO1 vesicle transport factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr14:15,866,638...15,932,185
Ensembl chr14:15,866,638...15,932,171
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Usp13
ubiquitin specific peptidase 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 2:115,576,912...115,689,153
Ensembl chr 2:115,577,091...115,686,222
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Zfand6
zinc finger AN1-type containing 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 1:138,581,002...138,652,052
Ensembl chr 1:138,581,002...138,651,939
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Zfp267
zinc finger protein 267
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 2:119,017,280...119,035,885
Ensembl chr 2:119,017,285...119,031,900
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Alad
aminolevulinate dehydratase
IEP
protein:decreased activity:striatum (rat)
RGD
PMID:18778733
RGD:4144152
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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Atp13a2
ATPase cation transporting 13A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22285144
NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
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Bnip3
BCL2 interacting protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19442826
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12171760
NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:113,881,618...113,891,759
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Htt
huntingtin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19845833
NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18041089
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18041089
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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Mfn2
mitofusin 2
IEP
protein:decreased expression:striatum (rat)
RGD
PMID:28232070
RGD:12910738
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15010209 PMID:22174044
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20089134
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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Slc30a10
solute carrier family 30, member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28860195 PMID:29429640
NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
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Slc31a1
solute carrier family 31 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22465424
NCBI chr 5:75,814,744...75,844,241
Ensembl chr 5:75,814,743...75,844,228
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Slc39a14
solute carrier family 39 member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28860195
NCBI chr15:45,376,806...45,423,549
Ensembl chr15:45,376,917...45,423,524
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Slc39a8
solute carrier family 39 member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29429640
NCBI chr 2:224,171,787...224,319,326
Ensembl chr 2:224,256,654...224,319,129
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Snca
synuclein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23934647
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18041089
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Ctsb
cathepsin B
IMP
RGD
PMID:18638529
RGD:2315510
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15515958
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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S100b
S100 calcium binding protein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30076900
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Alad
aminolevulinate dehydratase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21439310
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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Ep300
E1A binding protein p300
IEP
mRNA:increased expression:hippocampus
RGD
PMID:24291742
RGD:9588309
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Slc6a1
solute carrier family 6 member 1
IEP
protein:increased expression:brain, synaptosome
RGD
PMID:15149801
RGD:1643208
NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293
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