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 chr 7:83,292,027...83,395,479
Ensembl chr 7:83,292,033...83,394,934
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Akap9
A kinase anchor protein 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 5:3,977,410...4,130,204
Ensembl chr 5:3,978,054...4,131,310
G
Alad
aminolevulinate, delta-, dehydratase
ISO
protein:decreased activity:blood (rat)
RGD
PMID:19022878
RGD:4144202
NCBI chr 4:62,422,762...62,438,300
Ensembl chr 4:62,427,406...62,438,155
G
Aqp9
aquaporin 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19805235
NCBI chr 9:71,017,941...71,075,170
Ensembl chr 9:71,017,941...71,075,964
G
As3mt
arsenite methyltransferase
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:21447609 PMID:26366667 PMID:35226250
NCBI chr19:46,695,124...46,729,538
Ensembl chr19:46,695,897...46,729,538
G
Atxn7
ataxin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr14:8,358,358...8,508,324
Ensembl chr14:8,362,461...8,508,323
G
Ccl20
C-C motif chemokine ligand 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
G
Ccl4
C-C motif chemokine ligand 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
G
Ccrl2
C-C motif chemokine receptor-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 9:110,883,902...110,886,586
Ensembl chr 9:110,883,554...110,886,587
G
Cd44
CD44 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010
G
Cd83
CD83 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr13:43,938,661...43,956,608
Ensembl chr13:43,938,251...43,956,608
G
Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
protein:increased expression:skin:
RGD
PMID:11860939
RGD:8662429
NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
G
Crp
C-reactive protein, pentraxin-related
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22521605
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
G
Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797
G
Ercc1
excision repair cross-complementing rodent repair deficiency, complementation group 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12569548
NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449
G
Ercc3
excision repair cross-complementing rodent repair deficiency, complementation group 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12569548
NCBI chr18:32,373,357...32,403,206
Ensembl chr18:32,373,353...32,403,204
G
Ercc4
excision repair cross-complementing rodent repair deficiency, complementation group 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12569548
NCBI chr16:12,927,600...12,969,873
Ensembl chr16:12,927,548...12,968,481
G
Gadd45b
growth arrest and DNA-damage-inducible 45 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr10:80,765,925...80,768,038
Ensembl chr10:80,765,907...80,768,038
G
Golga4
golgin A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 9:118,335,280...118,411,587
Ensembl chr 9:118,335,335...118,411,587
G
Gsr
glutathione reductase
ISO
RGD
PMID:25209654
RGD:10401880
NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191
G
Hspa1b
heat shock protein 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr17:35,175,405...35,178,214
Ensembl chr17:35,175,412...35,178,214
G
Id2
inhibitor of DNA binding 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr12:25,143,798...25,146,091
Ensembl chr12:25,143,798...25,147,139
G
Ier3
immediate early response 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr17:36,132,605...36,133,803
Ensembl chr17:36,132,576...36,133,815
G
Igf2bp2
insulin-like growth factor 2 mRNA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr16:21,877,759...21,982,049
Ensembl chr16:21,877,759...21,982,049
G
Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Il1rn
interleukin 1 receptor antagonist
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
G
Inpp5a
inositol polyphosphate-5-phosphatase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25759212
NCBI chr 7:138,969,025...139,159,568
Ensembl chr 7:138,969,025...139,159,568
G
Kcnj2
potassium inwardly-rectifying channel, subfamily J, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr11:110,956,990...110,967,651
Ensembl chr11:110,956,990...110,967,647
G
Krt10
keratin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19953893
NCBI chr11:99,276,080...99,288,631
Ensembl chr11:99,276,080...99,280,190
G
Mettl14
methyltransferase 14, N6-adenosine-methyltransferase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr 3:123,161,944...123,179,639
Ensembl chr 3:123,161,946...123,179,757
G
Minpp1
multiple inositol polyphosphate histidine phosphatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr19:32,463,169...32,492,770
Ensembl chr19:32,463,169...32,492,764
G
Mir145a
microRNA 145a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29705342
NCBI chr18:61,780,896...61,780,965
Ensembl chr18:61,780,896...61,780,965
G
Mir155
microRNA 155
ISO
miRNA:increased expression:serum
RGD
PMID:27913196
RGD:25314296
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24384392
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
G
N4bp2l2
NEDD4 binding protein 2-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 5:150,515,310...150,589,213
Ensembl chr 5:150,531,472...150,589,648
G
Ndufb8
NADH:ubiquinone oxidoreductase subunit B8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr19:44,537,010...44,543,881
Ensembl chr19:44,537,011...44,543,879
G
Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
G
Nr4a2
nuclear receptor subfamily 4, group A, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 2:56,996,845...57,014,152
Ensembl chr 2:56,996,842...57,014,015
G
Pde4b
phosphodiesterase 4B, cAMP specific
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 4:101,944,529...102,464,459
Ensembl chr 4:101,944,740...102,464,456
G
Peli1
pellino 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr11:21,041,283...21,100,327
Ensembl chr11:21,041,291...21,100,323
G
Pfkfb3
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 2:11,476,241...11,558,882
Ensembl chr 2:11,476,244...11,558,888
G
Pias1
protein inhibitor of activated STAT 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 9:62,785,648...62,888,161
Ensembl chr 9:62,785,650...62,895,206
G
Pnp2
purine-nucleoside phosphorylase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18414634
NCBI chr14:51,193,598...51,202,206
Ensembl chr14:51,193,449...51,202,206
G
Ptx3
pentraxin related gene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:66,127,308...66,133,227
Ensembl chr 3:66,127,331...66,133,226
G
Rfx3
regulatory factor X, 3 (influences HLA class II expression)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr19:27,739,121...27,995,287
Ensembl chr19:27,739,121...27,988,566
G
Rgs1
regulator of G-protein signaling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 1:144,120,407...144,124,862
Ensembl chr 1:144,118,034...144,124,980
G
Rnf20
ring finger protein 20
ISO
protein:increased expression:urine (human)
RGD
PMID:21136906
RGD:9831407
NCBI chr 4:49,632,005...49,656,887
Ensembl chr 4:49,632,006...49,656,887
G
Rufy3
RUN and FYVE domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 5:88,711,305...88,799,276
Ensembl chr 5:88,712,899...88,799,251
G
Sfpq
splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 4:126,914,504...126,944,894
Ensembl chr 4:126,915,117...126,930,806
G
Skil
SKI-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:31,149,259...31,176,741
Ensembl chr 3:31,149,207...31,176,726
G
Sod2
superoxide dismutase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
G
Sox18
SRY (sex determining region Y)-box 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 2:181,311,630...181,313,433
Ensembl chr 2:181,311,629...181,313,433
G
Srp68
signal recognition particle 68
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr11:116,135,992...116,165,043
Ensembl chr11:116,135,992...116,165,043
G
Ssbp1
single-stranded DNA binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 6:40,448,302...40,458,757
Ensembl chr 6:40,448,286...40,461,634
G
Taf1d
TATA-box binding protein associated factor, RNA polymerase I, D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 9:15,217,485...15,228,293
Ensembl chr 9:15,217,510...15,228,287
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Tnfaip6
tumor necrosis factor alpha induced protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 2:51,928,125...51,946,693
Ensembl chr 2:51,928,021...51,946,698
G
Tnik
TRAF2 and NCK interacting kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:28,317,362...28,724,734
Ensembl chr 3:28,317,363...28,730,007
G
Tra2a
transformer 2 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 6:49,220,855...49,241,182
Ensembl chr 6:49,220,858...49,240,967
G
Trappc10
trafficking protein particle complex 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr10:78,021,256...78,080,479
Ensembl chr10:78,022,559...78,080,475
G
Trp53
transformation related protein 53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18621066 PMID:19203779
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
G
Ube2e1
ubiquitin-conjugating enzyme E2E 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr14:4,137,852...4,186,967
Ensembl chr14:4,137,837...4,186,974
G
Uso1
USO1 vesicle docking factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 5:92,285,770...92,350,659
Ensembl chr 5:92,285,797...92,350,657
G
Usp13
ubiquitin specific peptidase 13 (isopeptidase T-3)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:32,870,432...32,992,224
Ensembl chr 3:32,871,695...32,992,220
G
Zfand6
zinc finger, AN1-type domain 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 7:84,264,253...84,339,224
Ensembl chr 7:84,262,974...84,339,167
G
Zfp267
zinc finger protein 267
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835338
NCBI chr 3:36,205,233...36,224,491
Ensembl chr 3:36,205,166...36,224,491
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Alad
aminolevulinate, delta-, dehydratase
ISO
protein:decreased activity:striatum (rat)
RGD
PMID:18778733
RGD:4144152
NCBI chr 4:62,422,762...62,438,300
Ensembl chr 4:62,427,406...62,438,155
G
Atp13a2
ATPase type 13A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22285144
NCBI chr 4:140,711,812...140,734,641
Ensembl chr 4:140,714,184...140,734,641
G
Bnip3
BCL2/adenovirus E1B interacting protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19442826
NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248
G
Cyp2d22
cytochrome P450, family 2, subfamily d, polypeptide 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12171760
NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461
G
Htt
huntingtin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19845833
NCBI chr 5:34,919,084...35,069,878
Ensembl chr 5:34,919,084...35,069,878
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18041089
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18041089
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Mfn2
mitofusin 2
ISO
protein:decreased expression:striatum (rat)
RGD
PMID:28232070
RGD:12910738
NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161
G
Nos2
nitric oxide synthase 2, inducible
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15010209 PMID:22174044
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
G
Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20089134
NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248
G
Slc30a10
solute carrier family 30, member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28860195 PMID:29429640
NCBI chr 1:185,187,045...185,200,959
Ensembl chr 1:185,187,045...185,200,959
G
Slc31a1
solute carrier family 31, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22465424
NCBI chr 4:62,278,821...62,310,006
Ensembl chr 4:62,278,964...62,310,006
G
Slc39a14
solute carrier family 39 (zinc transporter), member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28860195
NCBI chr14:70,540,916...70,588,873
Ensembl chr14:70,540,918...70,588,874
G
Slc39a8
solute carrier family 39 (metal ion transporter), member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29429640
NCBI chr 3:135,522,644...135,594,333
Ensembl chr 3:135,531,040...135,594,333
G
Snca
synuclein, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23934647
NCBI chr 6:60,708,557...60,806,839
Ensembl chr 6:60,708,559...60,806,839
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18041089
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ctsb
cathepsin B
ISO
RGD
PMID:18638529
RGD:2315510
NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372
G
Jun
jun proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15515958
NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459
G
S100b
S100 protein, beta polypeptide, neural
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30076900
NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Alad
aminolevulinate, delta-, dehydratase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21439310
NCBI chr 4:62,422,762...62,438,300
Ensembl chr 4:62,427,406...62,438,155
G
Ep300
E1A binding protein p300
ISO
mRNA:increased expression:hippocampus
RGD
PMID:24291742
RGD:9588309
NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Slc6a1
solute carrier family 6 (neurotransmitter transporter, GABA), member 1
ISO
protein:increased expression:brain, synaptosome
RGD
PMID:15149801
RGD:1643208
NCBI chr 6:114,259,735...114,294,491
Ensembl chr 6:114,259,596...114,294,493
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all