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 deubiquitinase 1
disease_progression
ISO
RGD
PMID:27422796
RGD:127229946
NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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Birc5
baculoviral IAP repeat-containing 5
exacerbates
ISO
mRNA:increased expression:pleura, lung (human)
RGD
PMID:17253596
RGD:153344528
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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Birc7
baculoviral IAP repeat-containing 7
ameliorates
ISO
mRNA:increased expression:pleura, lung (human)
RGD
PMID:17253596
RGD:153344528
NCBI chr 3:188,425,392...188,430,174
Ensembl chr 3:168,047,824...168,052,606
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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
ameliorates
ISO
RGD
PMID:18722110
RGD:151667912
NCBI chr 1:126,123,425...126,249,181
Ensembl chr 1:116,714,711...116,837,240
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Csf1r
colony stimulating factor 1 receptor
ISO
mRNA:increased expression:peritoneum�� (human)
RGD
PMID:24722292
RGD:150524278
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415
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Emx2
empty spiracles homeobox 2
exacerbates
ISO
mRNA:decreased expression:mesothelium of pleural cavity (human)
RGD
PMID:25023662
RGD:153323312
NCBI chr 1:258,626,584...258,633,594
Ensembl chr 1:258,626,584...258,633,594
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
ISO
mRNA, protein:increased expression:pleura
RGD
PMID:22028491
RGD:126781718
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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Il7r
interleukin 7 receptor
disease_progression
ISO
RGD
PMID:26155428
RGD:151347688
NCBI chr 2:60,179,561...60,204,937
Ensembl chr 2:58,454,217...58,477,757
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Kdm6a
lysine demethylase 6A
ISO
mRNA:increased expression:mesothelium of pleural cavity (human)
RGD
PMID:28197626
RGD:150429737
NCBI chr X:6,920,374...7,060,027
Ensembl chr X:4,337,750...4,477,062
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Mir192
microRNA 192
ISO
miRNA:decreased expression:pleura (human)
RGD
PMID:26125439
RGD:11529530
NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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Mir193a
microRNA 193a
ISO
miRNA:decreased expression:pleura (human)
RGD
PMID:26125439
RGD:11529530
NCBI chr10:65,170,306...65,170,417
Ensembl chr10:64,672,343...64,672,454
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Mir200b
microRNA 200b
ISO
miRNA:decreased expression:pleura (human)
RGD
PMID:26125439
RGD:11529530
NCBI chr 5:171,931,495...171,931,589
Ensembl chr 5:166,649,272...166,649,366
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Mlh1
mutL homolog 1
disease_progression
ISO
RGD
PMID:23810210
RGD:126848799
NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617
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Ncoa2
nuclear receptor coactivator 2
ameliorates
ISO
protein:increased expression:mesothelium of pleural cavity (human)
RGD
PMID:22011668
RGD:153002578
NCBI chr 5:10,618,712...10,852,776
Ensembl chr 5:5,835,706...6,067,451
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Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
disease_progression
ISO
DNA:loss of heterozygosity
RGD
PMID:27378628 PMID:26493618 PMID:26928227
RGD:150530638 , RGD:11553131 , RGD:150429647
NCBI chr14:83,850,894...83,934,263
Ensembl chr14:79,627,399...79,710,667
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Rad21
RAD21 cohesin complex component
ISO
RGD
PMID:19380173
RGD:150520037
NCBI chr 7:85,177,715...85,204,657
Ensembl chr 7:83,287,870...83,314,817
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Setd2
SET domain containing 2, histone lysine methyltransferase
disease_progression
ISO
DNA:mutations:CDS:multiple (human)
RGD
PMID:26928227 PMID:33691361
RGD:150429647 , RGD:150520202
NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:110,511,772...110,597,489
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Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
protein:increased expression:pleura
RGD
PMID:22199264 PMID:24912849
RGD:151361201 , RGD:151660330
NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823
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Smo
smoothened, frizzled class receptor
disease_progression
ISO
DNA:missense mutations
RGD
PMID:23379358 PMID:33209614
RGD:150521620 , RGD:150521621
NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829
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Xiap
X-linked inhibitor of apoptosis
ameliorates
ISO
mRNA:increased expression:pleura, lung (human)
RGD
PMID:17253596
RGD:153344528
NCBI chr X:125,756,107...125,803,979
Ensembl chr X:120,897,907...120,934,700
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all