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.
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BAP1
BRCA1 associated protein 1
disease_progression
IEP
RGD
PMID:27422796
RGD:127229946
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BIRC5
baculoviral IAP repeat containing 5
exacerbates
HEP
mRNA:increased expression:pleura, lung (human)
RGD
PMID:17253596
RGD:153344528
NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
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BIRC7
baculoviral IAP repeat containing 7
ameliorates
HEP
mRNA:increased expression:pleura, lung (human)
RGD
PMID:17253596
RGD:153344528
NCBI chr20:63,235,905...63,240,495
Ensembl chr20:63,235,883...63,240,495
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CHRNA7
cholinergic receptor nicotinic alpha 7 subunit
ameliorates
IMP
RGD
PMID:18722110
RGD:151667912
NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018
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CSF1R
colony stimulating factor 1 receptor
HEP
mRNA:increased expression:peritoneum�� (human)
RGD
PMID:24722292
RGD:150524278
NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
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EMX2
empty spiracles homeobox 2
exacerbates
IEP
mRNA:decreased expression:mesothelium of pleural cavity (human)
RGD
PMID:25023662
RGD:153323312
NCBI chr10:117,542,746...117,549,546
Ensembl chr10:117,542,445...117,549,546
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
IEP
mRNA, protein:increased expression:pleura
RGD
PMID:22028491
RGD:126781718
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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IL7R
interleukin 7 receptor
disease_progression
IEP
RGD
PMID:26155428
RGD:151347688
NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
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KDM6A
lysine demethylase 6A
IEP
mRNA:increased expression:mesothelium of pleural cavity (human)
RGD
PMID:28197626
RGD:150429737
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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MIR192
microRNA 192
IEP
miRNA:decreased expression:pleura (human)
RGD
PMID:26125439
RGD:11529530
NCBI chr11:64,891,137...64,891,246
Ensembl chr11:64,891,137...64,891,246
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MIR193A
microRNA 193a
IEP
miRNA:decreased expression:pleura (human)
RGD
PMID:26125439
RGD:11529530
NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083
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MIR200B
microRNA 200b
IEP
miRNA:decreased expression:pleura (human)
RGD
PMID:26125439
RGD:11529530
NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198
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MLH1
mutL homolog 1
disease_progression
IEP
RGD
PMID:23810210
RGD:126848799
NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
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NCOA2
nuclear receptor coactivator 2
ameliorates
IEP
protein:increased expression:mesothelium of pleural cavity (human)
RGD
PMID:22011668
RGD:153002578
NCBI chr 8:70,109,782...70,456,446
Ensembl chr 8:70,109,782...70,403,808
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NF2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
disease_progression
IEP IAGP
DNA:loss of heterozygosity
RGD
PMID:27378628 PMID:26493618 PMID:26928227
RGD:150530638 , RGD:11553131 , RGD:150429647
NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
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RAD21
RAD21 cohesin complex component
HEP
RGD
PMID:19380173
RGD:150520037
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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SETD2
SET domain containing 2, histone lysine methyltransferase
disease_progression
IAGP IEP
DNA:mutations:CDS:multiple (human)
RGD
PMID:26928227 PMID:33691361
RGD:150429647 , RGD:150520202
NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
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SLC7A5
solute carrier family 7 member 5
disease_progression
IEP
protein:increased expression:pleura
RGD
PMID:22199264 PMID:24912849
RGD:151361201 , RGD:151660330
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,023...87,869,507
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SMO
smoothened, frizzled class receptor
disease_progression
IEP IAGP
DNA:missense mutations
RGD
PMID:23379358 PMID:33209614
RGD:150521620 , RGD:150521621
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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XIAP
X-linked inhibitor of apoptosis
ameliorates
HEP
mRNA:increased expression:pleura, lung (human)
RGD
PMID:17253596
RGD:153344528
NCBI chr X:123,859,708...123,913,972
Ensembl chr X:123,859,712...123,913,972
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all