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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:pneumoconiosis
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Accession:DOID:10316 term browser browse the term
Definition:An interstitial lung disease that is caused by the inhalation of dust. (DO)
Synonyms:exact_synonym: pneumoconioses
 primary_id: MESH:D011009
 xref: ICD10CM:J64;   ICD9CM:505;   NCI:C26861
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
pneumoconiosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
JBrowse link
G Atr ATR serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
JBrowse link
G Ca3 carbonic anhydrase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr 2:88,126,519...88,136,063
Ensembl chr 2:88,126,667...88,135,410
JBrowse link
G Car1 carbonic anhydrase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr 2:88,185,204...88,227,486
Ensembl chr 2:88,217,188...88,227,479
JBrowse link
G Cat catalase ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:19273541 RGD:5130756 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cdh23 cadherin-related 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G H3f4 H3.4 histone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr10:45,304,696...45,305,106 JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr10:14,122,856...14,128,984
Ensembl chr10:14,122,878...14,128,983
JBrowse link
G Il27ra interleukin 27 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr19:25,151,835...25,163,995
Ensembl chr19:25,149,897...25,164,086
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21857939 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Mdm4 MDM4 regulator of p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr13:49,786,776...49,828,780
Ensembl chr13:49,792,794...49,828,720
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr 4:49,941,046...50,140,764
Ensembl chr 4:49,941,304...50,140,762
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*06, HLA-DQB1*08, HLA-DQB1*09 (human) RGD PMID:16188098 RGD:7421557 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Ticam1 toll-like receptor adaptor molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr 9:10,780,185...10,790,280 JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25445010 NCBI chr20:9,910,522...9,929,705
Ensembl chr20:9,910,522...9,929,705
JBrowse link
anthracosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394417 NCBI chr13:90,605,792...90,642,032
Ensembl chr13:90,605,794...90,641,772
JBrowse link
G Flacc1 flagellum associated containing coiled-coil domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394417 NCBI chr 9:65,665,663...65,693,822
Ensembl chr 9:65,665,664...65,693,822
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20005085 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20005085 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:20005085 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394417 NCBI chr15:89,262,683...89,339,323
Ensembl chr15:89,266,710...89,339,323
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20005085 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
asbestosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26699812 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25324550 NCBI chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443
JBrowse link
G Cfd complement factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:22832039 NCBI chr 7:12,634,216...12,635,939
Ensembl chr 7:12,634,216...12,635,943
JBrowse link
G Clca1 chloride channel accessory 1 ISO mRNA, protein:increased expression:lung RGD PMID:17637221 RGD:4145655 NCBI chr 2:250,897,980...250,923,711
Ensembl chr 2:250,897,969...250,923,744
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO mRNA:decreased expression:leukocyte RGD PMID:20514434 RGD:4892076 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25324550 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
JBrowse link
G Ephx1 epoxide hydrolase 1 susceptibility ISO DNA:SNP:exon:p.Y113H (rs1051740) (human) RGD PMID:17159790 RGD:4889408 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:9055949 RGD:5490588 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17563610 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25324550 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:8473757 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
G Nos2 nitric oxide synthase 2 ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:lung
CTD PMID:12160931, PMID:12160931, PMID:12051993 RGD:4891441, RGD:4891438 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22537621 NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22537621 NCBI chr19:26,084,816...26,090,095
Ensembl chr19:26,084,903...26,090,094
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12368052 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16221779 PMID:21514415 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Tnc tenascin C ISO protein:increased expression:pleura RGD PMID:10950882 RGD:4889594 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8473757 PMID:20486865 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tpm4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22537621 NCBI chr16:19,385,810...19,399,851
Ensembl chr16:19,385,736...19,399,903
JBrowse link
berylliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:10194187 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Btnl2 butyrophilin-like 2 susceptibility ISO DNA:SNP: :rs3117099(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:17927685, PMID:17927685 RGD:9685029 NCBI chr20:4,140,184...4,156,365
Ensembl chr20:4,141,878...4,154,978
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 disease_progression ISO DNA:polymorphisms:5' utr:multiple (human) RGD PMID:20075058 RGD:4892065 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12952926 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16766924 NCBI chr 2:225,827,504...225,847,876
Ensembl chr 2:225,827,504...225,847,874
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased activity:sputum RGD PMID:19453654 RGD:4145349 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:8977230 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8428540 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16272364 PMID:17927685 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO DNA:polymorphisms: :-509C>T (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15750822 PMID:17785866, PMID:17785866 RGD:4145294 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8428540 PMID:12449171 PMID:15127972 PMID:16980557 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
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 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Arg1 arginase 1 IEP
ISO
mRNA:increased expression:lung (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:15292275, PMID:17365572 RGD:4143368 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
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 9:81,518,163...81,548,871
Ensembl chr 9:81,518,176...81,548,871
JBrowse link
G C3 complement C3 ISO DNA:polymorphism (human) RGD PMID:12096683 RGD:5129516 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26163174 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 IEP RGD PMID:21830856 RGD:6483764 NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
JBrowse link
G Cd36 CD36 molecule treatment IMP RGD PMID:24053919 RGD:11041147 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Chia chitinase, acidic IEP mRNA:increased expression:lung (rat) RGD PMID:18685790 RGD:4893904 NCBI chr 2:208,750,348...208,797,388
Ensembl chr 2:208,749,996...208,797,402
JBrowse link
G Cpm carboxypeptidase M ISO CTD Direct Evidence: marker/mechanism CTD PMID:24986923 NCBI chr 7:60,654,350...60,714,620
Ensembl chr 7:60,654,350...60,714,620
JBrowse link
G Csf2 colony stimulating factor 2 IEP protein:increased expression:serum: RGD PMID:21505002 RGD:10450467 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO RGD PMID:16831302 RGD:4891515 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Egr1 early growth response 1 IEP protein:increased expression:lung, epithelial cell, macrophage (rat) RGD PMID:15033019 RGD:5131937 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eln elastin IEP protein:increased expression:lung connective tissue: RGD PMID:7573374 RGD:9585691 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:serum, lung RGD PMID:16858012 RGD:4145384 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hnrnpa3 heterogeneous nuclear ribonucleoprotein A3 IEP protein:increased expression:lung RGD PMID:19534998 RGD:10059658 NCBI chr 3:62,481,222...62,491,356
Ensembl chr 3:62,481,323...62,487,227
JBrowse link
G Il17a interleukin 17A ISO mRNA, protein:increased expression:lung RGD PMID:20421647 RGD:4888525 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23640035 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO RGD PMID:21072213 RGD:4891500 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:27621875 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Marco macrophage receptor with collagenous structure treatment IMP RGD PMID:30391304 RGD:41412200 NCBI chr16:85,115,199...85,147,683
Ensembl chr16:85,115,201...85,135,859
JBrowse link
G Mmp13 matrix metallopeptidase 13 IEP mRNA:increased expression:lung, fibroblast RGD PMID:9614183 RGD:10043156 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292275, PMID:15205031 RGD:4891445 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Pdzrn4 PDZ domain containing RING finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24986923 NCBI chr 7:133,856,101...134,004,250
Ensembl chr 7:133,856,101...134,004,250
JBrowse link
G Prkcb protein kinase C, beta IDA protein:increased activation:alveolar macrophage RGD PMID:14680365 RGD:1625527 NCBI chr 1:192,233,569...192,575,339
Ensembl chr 1:192,233,910...192,574,831
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:27621875 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism: :HLA-DQB1*0402(human) RGD PMID:11776400 RGD:36049758 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Tnf tumor necrosis factor treatment ISO
IEP
DNA:polymorphisms: : RGD PMID:11264025, PMID:25199287 RGD:4142816, RGD:10450591 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:11208652 RGD:5131150 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:11208652 RGD:5131150 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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 chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Occupational Diseases 114
      pneumoconiosis 73
        Byssinosis + 0
        Caplan's syndrome 0
        anthracosilicosis 0
        anthracosis + 7
        asbestosis 20
        bagassosis 0
        baritosis 0
        berylliosis 11
        kaolin pneumoconiosis 0
        mixed mineral dust pneumoconiosis 0
        pneumoconiosis due to talc 0
        siderosis + 0
        silicosis + 31
        slate pneumoconiosis 0
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      respiratory system disease 2712
        lower respiratory tract disease 1647
          lung disease 1603
            Lung Injury 250
              pneumoconiosis 73
                Byssinosis + 0
                Caplan's syndrome 0
                anthracosilicosis 0
                anthracosis + 7
                asbestosis 20
                bagassosis 0
                baritosis 0
                berylliosis 11
                kaolin pneumoconiosis 0
                mixed mineral dust pneumoconiosis 0
                pneumoconiosis due to talc 0
                siderosis + 0
                silicosis + 31
                slate pneumoconiosis 0
paths to the root