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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:berylliosis
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Accession:DOID:10322 term browser browse the term
Definition:A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. (DO)
Synonyms:exact_synonym: beryllioses;   beryllium disease;   beryllium poisoning
 primary_id: MESH:D001607
 xref: ICD10CM:J63.2
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
berylliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme EXP CTD Direct Evidence: marker/mechanism CTD PMID:10194187 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G BTNL2 butyrophilin like 2 susceptibility IAGP
EXP
DNA:SNP: :rs3117099(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:17927685, PMID:17927685 RGD:9685029 NCBI chr 6:32,393,339...32,408,879
Ensembl chr 6:32,393,963...32,407,128
JBrowse link
G CCR5 C-C motif chemokine receptor 5 disease_progression IAGP DNA:polymorphisms:5' utr:multiple (human) RGD PMID:20075058 RGD:4892065 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,854...46,376,206
JBrowse link
G CD28 CD28 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:12952926 NCBI chr 2:203,706,509...203,739,756
Ensembl chr 2:203,706,475...203,738,912
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:16766924 NCBI chr 1:93,885,199...93,910,370
Ensembl chr 1:93,885,199...93,909,456
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8105536, PMID:11551429, PMID:14662898, PMID:15273960, PMID:17927685, PMID:17956852 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
G HLA-DPB2 major histocompatibility complex, class II, DP beta 2 (pseudogene) EXP CTD Direct Evidence: marker/mechanism CTD PMID:16272364 NCBI chr 6:33,112,516...33,129,113
Ensembl chr 6:33,112,451...33,129,084
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16272364, PMID:17927685 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,578,769...32,589,848
JBrowse link
G HMOX1 heme oxygenase 1 IEP protein:increased activity:sputum RGD PMID:19453654 RGD:4145349 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:8977230 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8428540 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G TGFB1 transforming growth factor beta 1 severity IAGP
EXP
DNA:polymorphisms: :-509C>T (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15750822, PMID:17785866, PMID:17785866 RGD:4145294 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:8428540, PMID:12449171, PMID:15127972, PMID:16980557 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17777
    Occupational Diseases 116
      pneumoconiosis 75
        berylliosis 13
Path 2
Term Annotations click to browse term
  disease 17777
    disease of anatomical entity 16339
      respiratory system disease 2898
        lower respiratory tract disease 1798
          lung disease 1757
            interstitial lung disease 359
              pneumoconiosis 75
                berylliosis 13
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.