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
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
IL16
interleukin 16
ISO
protein:increased expression:brain
RGD
PMID:14698845
RGD:1354526
NCBI chr15:60,181,827...60,299,406
Ensembl chr15:79,122,988...79,250,861
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
AKAP9
A-kinase anchoring protein 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608
G
ALAD
aminolevulinate dehydratase
ISO
protein:decreased activity:blood (rat)
RGD
PMID:19022878
RGD:4144202
NCBI chr 9:84,488,339...84,503,360
Ensembl chr 9:112,859,171...112,873,784
G
AQP9
aquaporin 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19805235
NCBI chr15:37,107,061...37,154,887
Ensembl chr15:55,418,767...55,466,541
G
AS3MT
arsenite methyltransferase
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:21447609 PMID:26366667 PMID:35226250
NCBI chr10:99,470,026...99,502,829
Ensembl chr10:102,933,671...102,964,692
G
ATXN7
ataxin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:63,766,480...63,906,913
Ensembl chr 3:65,194,703...65,280,879
G
CCL20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
G
CCRL2
C-C motif chemokine receptor like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:46,296,556...46,311,246
Ensembl chr 3:47,414,124...47,415,562
G
CD44
CD44 molecule (IN blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009
G
CD83
CD83 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 6:13,961,342...13,980,686
Ensembl chr 6:14,330,752...14,349,946
G
CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
protein:increased expression:skin:
RGD
PMID:11860939
RGD:8662429
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
G
CRP
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22521605
NCBI chr 1:135,062,102...135,064,402
G
CXCL3
C-X-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 4:50,152,730...50,154,974
Ensembl chr 4:55,925,562...55,986,555
G
ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12569548
NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430
G
ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12569548
NCBI chr2B:32,983,492...33,020,492
Ensembl chr2B:127,922,483...127,959,372
G
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12569548
NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496
G
GADD45B
growth arrest and DNA damage inducible beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr19:1,489,263...1,491,391
Ensembl chr19:2,451,837...2,453,992
G
GOLGA4
golgin A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:37,149,793...37,269,709
Ensembl chr 3:37,442,669...37,545,634
G
GSR
glutathione-disulfide reductase
ISO
RGD
PMID:25209654
RGD:10401880
NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
G
HSPA1B
heat shock protein family A (Hsp70) member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 6:31,488,882...31,491,412
G
ID2
inhibitor of DNA binding 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr2A:8,681,592...8,684,014
Ensembl chr2A:8,847,776...8,850,720
G
IER3
immediate early response 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 6:30,488,162...30,489,784
G
IGF2BP2
insulin like growth factor 2 mRNA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr 3:182,667,557...182,848,528
Ensembl chr 3:191,142,063...191,320,221
G
IL1A
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
G
IL1B
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
G
IL1RN
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
G
INPP5A
inositol polyphosphate-5-phosphatase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25759212
Ensembl chr10:133,437,718...133,681,116
G
KCNJ2
potassium inwardly rectifying channel subfamily J member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129
G
KRT10
keratin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19953893
NCBI chr17:16,461,624...16,466,136
Ensembl chr17:16,686,898...16,690,415
G
LOC100974886
uncharacterized LOC100974886
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 4:50,092,989...50,095,541
Ensembl chr 4:55,925,562...55,986,555
G
LOC100992309
C-C motif chemokine 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr17:20,704,738...20,706,641
Ensembl chr17:21,000,709...21,002,610
G
METTL14
methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr 4:110,879,137...110,905,131
Ensembl chr 4:121,431,026...121,458,392
G
MINPP1
multiple inositol-polyphosphate phosphatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr10:84,230,676...84,280,042
Ensembl chr10:87,737,649...87,787,130
G
MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24384392
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
G
N4BP2L2
NEDD4 binding protein 2 like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr13:13,691,326...13,803,162
Ensembl chr13:32,133,603...32,231,003
G
NDUFB8
NADH:ubiquinone oxidoreductase subunit B8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr10:97,123,826...97,129,919
Ensembl chr10:100,604,914...100,611,016
G
NLRP3
NLR family pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216
G
NR4A2
nuclear receptor subfamily 4 group A member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr2B:43,584,835...43,593,118
Ensembl chr2B:160,826,091...160,837,162
G
PDE4B
phosphodiesterase 4B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 1:65,038,120...65,620,764
Ensembl chr 1:67,045,911...67,506,291
G
PELI1
pellino E3 ubiquitin protein ligase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr2A:64,160,362...64,213,200
Ensembl chr2A:65,284,480...65,336,339
G
PFKFB3
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr10:6,185,415...6,294,641
Ensembl chr10:6,167,841...6,275,940
G
PIAS1
protein inhibitor of activated STAT 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr15:47,006,718...47,141,035
Ensembl chr15:65,276,530...65,410,105
G
PNP
purine nucleoside phosphorylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18414634
NCBI chr14:1,343,921...1,351,670
Ensembl chr14:19,396,114...19,403,907
G
PTX3
pentraxin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:154,485,470...154,492,293
Ensembl chr 3:162,537,577...162,543,652
G
RFX3
regulatory factor X3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 9:3,024,016...3,332,266
Ensembl chr 9:3,223,405...3,398,839
G
RGS1
regulator of G protein signaling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 1:168,039,235...168,043,516
Ensembl chr 1:172,333,866...172,337,401
G
RNF20
ring finger protein 20
ISO
protein:increased expression:urine (human)
RGD
PMID:21136906
RGD:9831407
NCBI chr 9:72,738,132...72,767,868
Ensembl chr 9:100,732,342...100,761,258
G
RUFY3
RUN and FYVE domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 4:53,415,742...53,516,600
Ensembl chr 4:59,762,053...59,846,574
G
SFPQ
splicing factor proline and glutamine rich
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 1:34,444,105...34,461,012
Ensembl chr 1:35,632,917...35,641,551
G
SKIL
SKI like proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:167,372,104...167,411,287
Ensembl chr 3:175,562,007...175,600,181
G
SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
G
SOX18
SRY-box transcription factor 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
G
SRP68
signal recognition particle 68
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr17:69,985,207...70,019,313
Ensembl chr17:75,539,484...75,573,436
G
SSBP1
single stranded DNA binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 7:133,670,085...133,682,228
Ensembl chr 7:146,139,837...146,151,495
G
TAF1D
TATA-box binding protein associated factor, RNA polymerase I subunit D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr11:88,752,779...88,763,136
Ensembl chr11:92,241,126...92,250,416
G
TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
G
TNFAIP6
TNF alpha induced protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr2B:38,669,652...38,692,037
Ensembl chr2B:155,933,842...155,956,382
G
TNIK
TRAF2 and NCK interacting kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:168,067,839...168,466,290
Ensembl chr 3:176,255,547...176,650,795
G
TP53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18621066 PMID:19203779
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
G
TRA2A
transformer 2 alpha homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 7:24,184,844...24,213,889
Ensembl chr 7:23,791,479...23,820,124
G
TRAPPC10
trafficking protein particle complex subunit 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr21:30,269,085...30,363,396
Ensembl chr21:43,581,617...43,656,740
G
UBE2E1
ubiquitin conjugating enzyme E2 E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:23,719,632...23,803,302
Ensembl chr 3:24,045,747...24,127,820
G
USO1
USO1 vesicle transport factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 4:48,391,293...48,480,909
Ensembl chr 4:54,229,601...54,317,158
G
USP13
ubiquitin specific peptidase 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:176,685,541...176,818,360
Ensembl chr 3:184,855,388...184,983,158
G
ZFAND6
zinc finger AN1-type containing 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr15:59,023,678...59,107,270
Ensembl chr15:78,048,571...78,115,098
G
ZNF267
zinc finger protein 267
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr16:22,924,355...22,968,670
Ensembl chr16:32,336,675...32,380,262
G
ZNF331
zinc finger protein 331
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr19:50,465,659...50,524,594
Ensembl chr19:59,315,619...59,374,805
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ALAD
aminolevulinate dehydratase
ISO
protein:decreased activity:striatum (rat)
RGD
PMID:18778733
RGD:4144152
NCBI chr 9:84,488,339...84,503,360
Ensembl chr 9:112,859,171...112,873,784
G
ATP13A2
ATPase cation transporting 13A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22285144
NCBI chr 1:15,929,613...15,955,631
Ensembl chr 1:16,986,385...17,006,033 Ensembl chr 1:16,986,385...17,006,033
G
BNIP3
BCL2 interacting protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19442826
NCBI chr10:128,671,663...128,685,952
Ensembl chr10:132,858,211...132,871,634
G
HTT
huntingtin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19845833
NCBI chr 4:3,215,081...3,388,587
Ensembl chr 4:3,128,718...3,283,730
G
IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18041089
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
G
IL1B
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18041089
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
G
LOC100988273
cytochrome P450 2D6-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12171760
NCBI chr22:23,022,449...23,031,627
G
MFN2
mitofusin 2
ISO
protein:decreased expression:striatum (rat)
RGD
PMID:28232070
RGD:12910738
NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
G
NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15010209 PMID:22174044
NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
G
PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20089134
NCBI chr 6:159,293,016...160,679,106
Ensembl chr 6:164,314,990...165,678,770
G
SLC30A10
solute carrier family 30 member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28860195 PMID:29429640
NCBI chr 1:195,480,707...195,528,243
Ensembl chr 1:200,522,554...200,566,228
G
SLC31A1
solute carrier family 31 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22465424
NCBI chr 9:84,319,304...84,362,288
Ensembl chr 9:112,691,503...112,734,352
G
SLC39A14
solute carrier family 39 member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28860195
NCBI chr 8:21,617,529...21,672,726
Ensembl chr 8:18,555,895...18,621,510
G
SLC39A8
solute carrier family 39 member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29429640
NCBI chr 4:94,675,458...94,770,380
Ensembl chr 4:105,339,488...105,433,568
G
SNCA
synuclein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23934647
NCBI chr 4:82,018,585...82,132,938
Ensembl chr 4:92,737,608...92,850,600
G
TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18041089
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CTSB
cathepsin B
ISO
RGD
PMID:18638529
RGD:2315510
NCBI chr 8:7,333,498...7,359,264
G
JUN
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15515958
NCBI chr 1:58,042,794...58,045,536
G
S100B
S100 calcium binding protein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30076900
NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ALAD
aminolevulinate dehydratase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21439310
NCBI chr 9:84,488,339...84,503,360
Ensembl chr 9:112,859,171...112,873,784
G
EP300
E1A binding protein p300
ISO
mRNA:increased expression:hippocampus
RGD
PMID:24291742
RGD:9588309
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
SLC6A1
solute carrier family 6 member 1
ISO
protein:increased expression:brain, synaptosome
RGD
PMID:15149801
RGD:1643208
NCBI chr 3:10,930,455...10,976,968
Ensembl chr 3:11,296,023...11,323,624
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