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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:silicosis
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Accession:DOID:10325 term browser browse the term
Definition:A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles. (DO)
Synonyms:exact_synonym: Silicoses;   pneumoconiosis due to silicates;   silica pneumoconiosis;   silicotic fibrosis of lung
 primary_id: MESH:D012829
 xref: EFO:0007485;   GARD:7647;   ICD10CM:J62;   ICD10CM:J62.8;   ICD9CM:502;   NCI:C3369
For additional species annotation, visit the Alliance of Genome Resources.



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silicosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22273745 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Arg1 arginase 1 IEP
ISO
mRNA:increased expression:lung (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15292275 PMID:17365572 RGD:4143368 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 IEP mRNA:altered expression:lung (rat) RGD PMID:18685790 RGD:4893904 NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
JBrowse link
G C3 complement C3 ISO DNA:polymorphism (human) RGD PMID:12096683 RGD:5129516 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36053221 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26163174 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 IEP RGD PMID:21830856 RGD:6483764 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
JBrowse link
G Cd36 CD36 molecule treatment IMP RGD PMID:24053919 RGD:11041147 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Chia chitinase, acidic IEP mRNA:increased expression:lung (rat) RGD PMID:18685790 RGD:4893904 NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533
JBrowse link
G Cpm carboxypeptidase M ISO CTD Direct Evidence: marker/mechanism CTD PMID:24986923 NCBI chr 7:53,225,647...53,286,220
Ensembl chr 7:53,225,696...53,286,220
JBrowse link
G Csf2 colony stimulating factor 2 IEP protein:increased expression:serum: RGD PMID:21505002 RGD:10450467 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO RGD PMID:16831302 RGD:4891515 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Egr1 early growth response 1 IEP protein:increased expression:lung, epithelial cell, macrophage (rat) RGD PMID:15033019 RGD:5131937 NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Eln elastin IEP protein:increased expression:lung connective tissue: RGD PMID:7573374 RGD:9585691 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:37979906 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:serum, lung RGD PMID:16858012 RGD:4145384 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hnrnpa3 heterogeneous nuclear ribonucleoprotein A3 IEP protein:increased expression:lung RGD PMID:19534998 RGD:10059658 NCBI chr 3:60,578,574...60,588,755
Ensembl chr 3:60,578,673...60,588,306
JBrowse link
G Ift88 intraflagellar transport 88 IEP protein:decreased expression:lung RGD PMID:32042332 RGD:155791682 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
JBrowse link
G Il17a interleukin 17A ISO mRNA, protein:increased expression:lung RGD PMID:20421647 RGD:4888525 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23640035 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility
treatment
ISO
IDA
DNA:SNP (human) RGD PMID:11264025 PMID:23842733 RGD:4142816, RGD:8551847 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO RGD PMID:21072213 RGD:4891500 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:27621875 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
JBrowse link
G Kif3a kinesin family member 3a IEP
ISO
protein:decreased expression:lung
protein:increased expression:respiratory system fluid/secretion:
RGD PMID:32042332 PMID:32042332 RGD:155791682, RGD:155791682 NCBI chr10:37,725,930...37,761,183
Ensembl chr10:37,725,970...37,759,191
JBrowse link
G Marco macrophage receptor with collagenous structure treatment IMP RGD PMID:30391304 RGD:41412200 NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
JBrowse link
G Mmp13 matrix metallopeptidase 13 IEP mRNA:increased expression:lung, fibroblast RGD PMID:9614183 RGD:10043156 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15292275 PMID:15205031 RGD:4891445 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Npm1 nucleophosmin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:37399107 NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
JBrowse link
G Pdzrn4 PDZ domain containing RING finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24986923 NCBI chr 7:123,816,961...123,965,491
Ensembl chr 7:123,816,961...123,965,491
JBrowse link
G Prkcb protein kinase C, beta IDA protein:increased activation:alveolar macrophage RGD PMID:14680365 RGD:1625527 NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:27621875 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism: :HLA-DQB1*0402(human) RGD PMID:11776400 RGD:36049758 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 IEP mRNA:decreased expression:lung (rat) RGD PMID:29230030 RGD:152977761 NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
G Tert telomerase reverse transcriptase IEP mRNA:increased expression:lung (rat) RGD PMID:29230030 RGD:152977761 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tnf tumor necrosis factor treatment ISO
IEP
DNA:polymorphisms: : RGD PMID:11264025 PMID:25199287 RGD:4142816, RGD:10450591 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:11208652 RGD:5131150 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:11208652 RGD:5131150 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
Silicotuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sting1 stimulator of interferon response cGAMP interactor 1 severity ISO RGD PMID:31141689 RGD:39128194 NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Occupational Diseases 139
      pneumoconiosis 95
        silicosis 38
          Silicosiderosis 0
          Silicotuberculosis 1
          anthracosilicosis 0
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      respiratory system disease 3611
        lower respiratory tract disease 2297
          lung disease 2260
            interstitial lung disease 504
              pneumoconiosis 95
                silicosis 38
                  Silicosiderosis 0
                  Silicotuberculosis 1
                  anthracosilicosis 0
paths to the root