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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:asbestosis
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Accession:DOID:10320 term browser browse the term
Definition:A form of pneumoconiosis caused by inhalation of asbestos fibers which elicit potent inflammatory responses in the parenchyma of the lung. The disease is characterized by interstitial fibrosis of the lung, varying from scattered sites to extensive scarring of the alveolar interstitium.
Synonyms:exact_synonym: Asbestoses;   Idiopathic Interstitial Pneumonitis - from Asbestos Exposure;   Pulmonary Fibrosis - from Asbestos Exposure
 primary_id: MESH:D001195
 alt_id: RDO:0004918
 xref: GARD:5852;   ICD10CM:J61;   ICD9CM:501;   NCI:C84573
For additional species annotation, visit the Alliance of Genome Resources.


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asbestosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26699812 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G ATF6 activating transcription factor 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25324550 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,320...161,964,070
JBrowse link
G CFD complement factor D EXP CTD Direct Evidence: marker/mechanism CTD PMID:22832039 NCBI chr19:859,664...863,641
Ensembl chr19:859,664...863,641
JBrowse link
G CLCA1 chloride channel accessory 1 ISO mRNA, protein:increased expression:lung RGD PMID:17637221 RGD:4145655 NCBI chr 1:86,468,927...86,500,259
Ensembl chr 1:86,468,368...86,500,259
Ensembl chr 1:86,468,368...86,500,259
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 IEP mRNA:decreased expression:leukocyte RGD PMID:20514434 RGD:4892076 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G DDIT3 DNA damage inducible transcript 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25324550 NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
JBrowse link
G EPHX1 epoxide hydrolase 1 susceptibility IAGP DNA:SNP:exon:p.Y113H (rs1051740) (human) RGD PMID:17159790 RGD:4889408 NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,092...225,845,563
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion: : RGD PMID:9055949 RGD:5490588 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17563610
G HSPA5 heat shock protein family A (Hsp70) member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25324550 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,343
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr 1:247,416,163...247,448,823
Ensembl chr 1:247,416,156...247,449,108
JBrowse link
G NOS2 nitric oxide synthase 2 ISO
EXP
CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:lung
CTD PMID:12160931, PMID:12160931, PMID:12051993 RGD:4891441, RGD:4891438 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G PRDX1 peroxiredoxin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22537621 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,511,036...45,523,047
JBrowse link
G PRDX2 peroxiredoxin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22537621 NCBI chr19:12,796,823...12,801,800
Ensembl chr19:12,796,820...12,801,800
JBrowse link
G SERPINA1 serpin family A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12368052 NCBI chr14:94,376,747...94,390,654
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SPP1 secreted phosphoprotein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16221779, PMID:21514415 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,650...87,983,426
JBrowse link
G TNC tenascin C IEP protein:increased expression:pleura RGD PMID:10950882 RGD:4889594 NCBI chr 9:115,019,575...115,118,244
Ensembl chr 9:115,019,575...115,118,257
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20486865 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TPM4 tropomyosin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22537621 NCBI chr19:16,067,507...16,103,005
Ensembl chr19:16,067,021...16,103,002
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18830
    Occupational Diseases 117
      pneumoconiosis 76
        asbestosis 19
Path 2
Term Annotations click to browse term
  disease 18830
    disease of anatomical entity 17318
      respiratory system disease 2951
        lower respiratory tract disease 1830
          lung disease 1789
            Lung Injury 246
              pneumoconiosis 76
                asbestosis 19
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.