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: pleural disease
Accession: DOID:1532
browse the term
Definition: A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. (DO)
Synonyms: exact_synonym: disorder of pleura; non-neoplastic pleural disease; pleural diseases
primary_id: MESH:D010995
xref: NCI:C26859
For additional species annotation, visit the
Alliance of Genome Resources .
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10923243
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21357438
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21357438
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:alveolar macrophage
RGD
PMID:8325116
RGD:4143201
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21357438
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21357438
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Msln
mesothelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23277285
NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24142982
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24142982
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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Tnc
tenascin C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10950882
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Chylothorax
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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Gja1
gap junction protein, alpha 1
ISO
RGD
PMID:27899284
RGD:13592598
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Mif
macrophage migration inhibitory factor
ISO
protein:increased expression:amniotic fluid
RGD
PMID:17295350
RGD:4891014
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 Ensembl chr 4:12,790,902...12,799,504
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Elk3
ETS transcription factor ELK3
ISS
OMIM:603523
MouseDO
NCBI chr 7:27,768,582...27,831,088
Ensembl chr 7:27,768,599...27,804,084
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Itga9
integrin subunit alpha 9
ISS
OMIM:603523
MouseDO
NCBI chr 8:118,307,424...118,615,527
Ensembl chr 8:118,307,381...118,613,754
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Pkd1l1
polycystin 1 like 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Congenital chylothorax | ClinVar Annotator: match by term: HYDROTHORAX, CONGENITAL
ClinVar
PMID:25741868 PMID:28492532 PMID:38247840
NCBI chr14:83,552,964...83,670,062
Ensembl chr14:83,545,469...83,638,498
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Asb2
ankyrin repeat and SOCS box-containing 2
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,474,754...122,511,014
Ensembl chr 6:122,474,756...122,510,854
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Btbd7
BTB domain containing 7
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:121,920,365...122,010,114
Ensembl chr 6:121,923,023...121,972,405
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Cox8c
cytochrome c oxidase subunit 8C
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,028,566...122,029,889
Ensembl chr 6:122,028,566...122,029,889
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Ddx24
DEAD-box helicase 24
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,564,767...122,582,032
Ensembl chr 6:122,564,767...122,581,927
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Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: DICER1 syndrome
OMIM ClinVar
PMID:9295070 PMID:9345104 PMID:9536098 PMID:15242644 PMID:15987463 PMID:16095561 PMID:16199547 PMID:17576681 PMID:17920623 PMID:17923214 PMID:18453628 PMID:18570301 PMID:19556464 PMID:21036787 PMID:21205968 PMID:21266384 PMID:21346072 PMID:21501861 PMID:21882293 PMID:22157934 PMID:22180160 PMID:22187960 PMID:22546613 PMID:22717647 PMID:23068969 PMID:23132766 PMID:23418872 PMID:23547758 PMID:23620094 PMID:23622242 PMID:23728841 PMID:23868280 PMID:24033266 PMID:24065110 PMID:24136150 PMID:24151152 PMID:24481001 PMID:24513630 PMID:24617712 PMID:24628552 PMID:24675358 PMID:24676357 PMID:24708902 PMID:24728327 PMID:24823459 PMID:24839956 PMID:24909177 PMID:24909261 PMID:25022261 PMID:25118636 PMID:25176334 PMID:25190313 PMID:25231023 PMID:25348012 PMID:25356068 PMID:25451712 PMID:25525159 PMID:25526195 PMID:25640679 PMID:25670082 PMID:25670083 PMID:25741868 PMID:25803323 PMID:25836323 PMID:25998712 PMID:26033159 PMID:26033501 PMID:26241669 PMID:26289771 PMID:26408257 PMID:26428316 PMID:26461232 PMID:26467025 PMID:26475046 PMID:26517685 PMID:26526666 PMID:26545620 PMID:26555935 PMID:26556299 PMID:26566882 PMID:26577641 PMID:26580448 PMID:26592504 PMID:26666178 PMID:26822237 PMID:26841698 PMID:26886166 PMID:26893459 PMID:26925222 PMID:26928971 PMID:26983701 PMID:27036314 PMID:27050224 PMID:27126690 PMID:27459524 PMID:27494611 PMID:27664536 PMID:27697588 PMID:27784193 PMID:27819237 PMID:27830405 PMID:27896549 PMID:27930734 PMID:28007021 PMID:28012864 PMID:28097783 PMID:28177962 PMID:28202063 PMID:28222777 PMID:28323992 PMID:28459098 PMID:28492532 PMID:28502826 PMID:28524158 PMID:28562508 PMID:28624956 PMID:28654427 PMID:28688118 PMID:28748527 PMID:28766837 PMID:28825729 PMID:28834809 PMID:28862265 PMID:28873162 PMID:28960912 PMID:29037807 PMID:29187512 PMID:29315962 PMID:29351919 PMID:29395683 PMID:29399970 PMID:29459759 PMID:29469200 PMID:29474644 PMID:29538609 PMID:29625052 PMID:29633305 PMID:29641532 PMID:29660837 PMID:29706542 PMID:29708584 PMID:29726952 PMID:29753010 PMID:29762508 PMID:29881993 PMID:29883781 PMID:29938629 PMID:29943907 PMID:29945567 PMID:30014022 PMID:30072170 PMID:30093976 PMID:30097050 PMID:30178239 PMID:30260442 PMID:30266945 PMID:30339877 PMID:30446821 PMID:30585947 PMID:30597651 PMID:30649606 PMID:30665929 PMID:30672147 PMID:30989777 PMID:31067372 PMID:31278746 PMID:31285663 PMID:31296931 PMID:31300551 PMID:31342592 PMID:31417090 PMID:31820118 PMID:31838154 PMID:31883967 PMID:31900434 PMID:31911633 PMID:32291395 PMID:32371905 PMID:32692439 PMID:32714280 PMID:32832834 PMID:32973888 PMID:33158809 PMID:33208384 PMID:33372952 PMID:33460435 PMID:33484847 PMID:33630087 PMID:33718253 PMID:33729574 PMID:33767345 PMID:33782093 PMID:34291157 PMID:34313605 PMID:34761719 PMID:34913555 PMID:35194848 PMID:37248399 PMID:37333613 More...
NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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Fam181a
family with sequence similarity 181, member A
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,465,373...122,471,397
Ensembl chr 6:122,465,391...122,471,397
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Gsc
goosecoid homeobox
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:123,388,072...123,390,111
Ensembl chr 6:123,388,072...123,390,111
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Ifi27
interferon, alpha-inducible protein 27
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,590,461...122,596,996
Ensembl chr 6:122,590,472...122,779,294
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Ifi27l2a
interferon, alpha-inducible protein 27 like 2A
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,598,872...122,600,358
Ensembl chr 6:122,598,872...122,600,360
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Otub2
OTU deubiquitinase, ubiquitin aldehyde binding 2
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,545,067...122,563,657
Ensembl chr 6:122,545,061...122,563,644
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Ppp4r4
protein phosphatase 4, regulatory subunit 4
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,663,172...122,753,988
Ensembl chr 6:122,663,344...122,753,384
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Prima1
proline rich membrane anchor 1
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,338,365...122,390,955
Ensembl chr 6:122,338,370...122,389,921
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Serpina1
serpin family A member 1
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpina10
serpin family A member 10
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544
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Serpina11
serpin family A member 11
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,903,246...122,912,695
Ensembl chr 6:122,903,250...122,912,670
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Serpina12
serpin family A member 12
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,952,552...122,967,271
Ensembl chr 6:122,952,552...122,967,271
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Serpina1f
serpin family A member 1F
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,820,752...122,827,112
Ensembl chr 6:122,820,907...122,827,112
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Serpina3n
serpin family A member 3N
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
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Serpina4
serpin family A member 4
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,999,970...123,009,083
Ensembl chr 6:122,999,900...123,009,082
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Serpina5
serpin family A member 5
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:123,009,224...123,028,412
Ensembl chr 6:123,023,306...123,028,407
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Serpina6
serpin family A member 6
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349
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Serpina9
serpin family A member 9
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,918,819...122,936,000
Ensembl chr 6:122,918,880...122,936,000
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Ubr7
ubiquitin protein ligase E3 component n-recognin 7
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477
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Unc79
unc-79 homolog, NALCN channel complex subunit
ISO
ClinVar Annotator: match by term: DICER1 syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,082,369...122,327,641
Ensembl chr 6:122,080,308...122,327,591
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Ada
adenosine deaminase
disease_progression
ISO
protein:decreased expression:serum: protein:increased activity:serum:
RGD
PMID:27300446 PMID:1689629 PMID:1818842
RGD:152995272 , RGD:152995292 , RGD:152998934
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Il10
interleukin 10
ISO
RGD
PMID:30695099
RGD:14975123
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Mmp2
matrix metallopeptidase 2
ISO
associated with pleurisy; protein:decreased activity:pleura
RGD
PMID:17611666
RGD:5130711
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO
associated with pleurisy; protein:decreased activity:pleura
RGD
PMID:17611666
RGD:5130711
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Bap1
BRCA1 associated deubiquitinase 1
disease_progression
ISO
RGD
PMID:27422796
RGD:127229946
NCBI chr16:6,446,709...6,455,535
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 chr10:103,072,530...103,081,382
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 3:168,047,824...168,052,606
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 1:116,711,559...116,837,269
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 chr18:54,546,673...54,590,418
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 4:76,624,399...76,687,362
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 2:58,452,393...58,477,757
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:4,337,466...4,477,100
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 chr10:64,672,343...64,672,454
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 5:166,649,272...166,649,366
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 8:111,196,468...111,233,721
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 5:5,835,642...6,069,693
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:26928227 PMID:26493618
RGD:150530638 , RGD:150429647 , RGD:11553131
NCBI chr14:79,627,399...79,710,709
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 7:83,287,867...83,314,810
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 8:110,511,808...110,597,475
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 chr19:49,935,220...49,963,823
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 4:58,343,626...58,373,823
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:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700
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Ace
angiotensin I converting enzyme
ISO
associated with tuberculosis;protein:increased activity:pleural fluid (human)
RGD
PMID:23091417
RGD:40818411
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ace2
angiotensin converting enzyme 2
ISO
associated with tuberculosis;protein:decreased activity:pleural fluid (human)
RGD
PMID:23091417
RGD:40818411
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Ada
adenosine deaminase
treatment
ISO
RGD
PMID:25547995
RGD:152995274
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37441092
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Chrna1
cholinergic receptor nicotinic alpha 1 subunit
ISO
ClinVar Annotator: match by term: Pleural effusion
ClinVar
PMID:25741868 PMID:28492532 PMID:30177536 PMID:31680349 PMID:36634413
NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Pleural effusion
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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Il15
interleukin 15
ISO
RGD
PMID:15072171
RGD:4990458
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Lox
lysyl oxidase
ISO
ClinVar Annotator: match by term: Pleural effusion
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
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Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37441092
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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Srfbp1
serum response factor binding protein 1
ISO
ClinVar Annotator: match by term: Pleural effusion
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2518282
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37441092
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Plau
plasminogen activator, urokinase
ISO
Gene product used in treatment of disease
RGD
PMID:20304453
RGD:4891955
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Tnc
tenascin C
ISO
protein:increased expression:pleura
RGD
PMID:10950882
RGD:4889594
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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Trem1
triggering receptor expressed on myeloid cells 1
treatment
IDA
RGD
PMID:20819512
RGD:127284851
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23435014
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16221779
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Ada
adenosine deaminase
ISO
protein:increased activity:pleural fluid: protein:increased activity:serum: protein:increased expression:serum:
RGD
PMID:21860532 PMID:1818842 PMID:1689629 PMID:18357489
RGD:152995280 , RGD:152998934 , RGD:152995292 , RGD:152995288
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Ccl22
C-C motif chemokine ligand 22
ISO
RGD
PMID:20337996
RGD:4891473
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:19159432
RGD:4145106
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
ISO
protein:increased expression:pleural fluid, natural killer cell (human)
RGD
PMID:19159432
RGD:4145106
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Foxp3
forkhead box P3
disease_progression
ISO
associated with human immunodeficiency virus infectious disease;
RGD
PMID:21303360
RGD:36947878
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Il1b
interleukin 1 beta
ISO
DNA:polymorphism: :3953T>C (human)
RGD
PMID:10377182
RGD:4143226
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeat (human)
RGD
PMID:10377182
RGD:4143226
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il27
interleukin 27
exacerbates
ISO
associated with Pleural Effusion;protein:increased expression:pleural fluid (human) protein:increased expression:alveolar system (human)
RGD
PMID:25753767 PMID:31819557 PMID:23962500 PMID:28844060
RGD:126790505 , RGD:126790549 , RGD:126790523 , RGD:126790517
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il33
interleukin 33
ISO
protein:increased expression:pleural fluid:
RGD
PMID:23301222
RGD:39939042
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:pleura:
RGD
PMID:18715875
RGD:5129700
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:18295348
RGD:4144193
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnc
tenascin C
ISO
protein:increased expression:pleura
RGD
PMID:10950882
RGD:4889594
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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Ada
adenosine deaminase
ISO
RGD
PMID:16860713
RGD:5128847
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Alox5
arachidonate 5-lipoxygenase
IMP
RGD
PMID:9109363
RGD:4890429
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Anxa1
annexin A1
IDA
RGD
PMID:15784654
RGD:2306907
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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Bdkrb1
bradykinin receptor B1
IMP
RGD
PMID:11853231
RGD:5129218
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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Bdkrb2
bradykinin receptor B2
ISO IMP
RGD
PMID:15316088 PMID:9208140
RGD:4891029 , RGD:4891041
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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C3
complement C3
ISO
protein:increased activity:pleural cavity
RGD
PMID:18256172
RGD:5129520
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cat
catalase
ISO
RGD
PMID:19778612
RGD:5130749
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl11
C-C motif chemokine ligand 11
ISO IMP
protein:increased expression:pleural fluid
RGD
PMID:11877329 PMID:11564646
RGD:4145443 , RGD:4145479
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccl25
C-C motif chemokine ligand 25
ISO
protein:increased expression:pleural fluid
RGD
PMID:18056919
RGD:5130924
NCBI chr12:2,707,398...2,716,571
Ensembl chr12:2,707,398...2,716,554
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:lung (mouse)
RGD
PMID:18672096
RGD:4890016
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccr3
C-C motif chemokine receptor 3
ISO
associated with Mycobacterium Infections
RGD
PMID:17158890
RGD:4145643
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Csf3
colony stimulating factor 3
ISO
RGD
PMID:8841835
RGD:11039424
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
RGD
PMID:14527170
RGD:5135449
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:14527170
RGD:5135449
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl2
C-X-C motif chemokine ligand 2
IEP ISO
RGD
PMID:21549112 PMID:14527170
RGD:5135064 , RGD:5135449
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:14527170
RGD:5135449
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Ednra
endothelin receptor type A
ISO
RGD
PMID:15107459
RGD:4892325
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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Elane
elastase, neutrophil expressed
IMP
RGD
PMID:20860667
RGD:10450565
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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Esr1
estrogen receptor 1
IMP
RGD
PMID:17035596
RGD:4892303
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Icam1
intercellular adhesion molecule 1
ISO
associated with Tuberculosis; protein:increased expression:pleural fluid, natural killer cell (human) CTD Direct Evidence: marker/mechanism protein:increased expression:bronchial epithelium (mouse)
CTD RGD
PMID:11181422 PMID:19714575 PMID:19056932
RGD:4145510 , RGD:4145519
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11181422
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il15
interleukin 15
ISO
RGD
PMID:10823416
RGD:4990464
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il17a
interleukin 17A
treatment
IDA
RGD
PMID:21898269
RGD:7175307
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1b
interleukin 1 beta
IDA ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:pleural cavity, exudate (rat) protein:increased expression:lung
CTD RGD
PMID:11181422 PMID:20141620 PMID:21898269 PMID:20175894
RGD:4142808 , RGD:7175307 , RGD:4142826
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
RGD
PMID:8491511
RGD:4143233
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11181422
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Mpo
myeloperoxidase
ISO
protein:increased activity:lung
RGD
PMID:11577999
RGD:5130991
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
RGD
PMID:14673141
RGD:6893408
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nos2
nitric oxide synthase 2
IEP IDA
protein:increased expression:pleural cavity (rat)
RGD
PMID:21898269 PMID:20141620
RGD:7175307 , RGD:4142808
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Pla2g6
phospholipase A2 group VI
IEP
RGD
PMID:15003994
RGD:6482741
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Ptafr
platelet-activating factor receptor
treatment
IMP
RGD
PMID:8395390
RGD:10043147
NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
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Ptgs2
prostaglandin-endoperoxide synthase 2
IDA IEP
RGD
PMID:20141620 PMID:15740981
RGD:4142808 , RGD:5143929
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Selp
selectin P
ISO
protein:increased expression:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11181422 PMID:21147071
RGD:6219005
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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Serpine1
serpin family E member 1
susceptibility
ISO
associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human):
RGD
PMID:23052617
RGD:13207414
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Tnf
tumor necrosis factor
ISO IDA
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11181422 PMID:11161459 PMID:20141620
RGD:4143474 , RGD:4142808
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:12773506
RGD:4890419
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Asb2
ankyrin repeat and SOCS box-containing 2
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,474,754...122,511,014
Ensembl chr 6:122,474,756...122,510,854
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Btbd7
BTB domain containing 7
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:121,920,365...122,010,114
Ensembl chr 6:121,923,023...121,972,405
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Cox8c
cytochrome c oxidase subunit 8C
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,028,566...122,029,889
Ensembl chr 6:122,028,566...122,029,889
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Ddx24
DEAD-box helicase 24
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,564,767...122,582,032
Ensembl chr 6:122,564,767...122,581,927
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Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | ClinVar Annotator: match by term: Pleuropulmonary blastoma CTD Direct Evidence: marker/mechanism DNA:mutations:cds
ClinVar CTD RGD
PMID:9295070 PMID:9345104 PMID:9536098 PMID:15242644 PMID:15987463 PMID:16095561 PMID:16199547 PMID:17576681 PMID:17920623 PMID:17923214 PMID:18453628 PMID:18570301 PMID:19556464 PMID:21036787 PMID:21205968 PMID:21266384 PMID:21346072 PMID:21501861 PMID:21882293 PMID:22157934 PMID:22180160 PMID:22187960 PMID:22546613 PMID:22717647 PMID:23068969 PMID:23132766 PMID:23418872 PMID:23547758 PMID:23620094 PMID:23622242 PMID:23728841 PMID:23868280 PMID:24033266 PMID:24065110 PMID:24136150 PMID:24151152 PMID:24481001 PMID:24513630 PMID:24617712 PMID:24628552 PMID:24675358 PMID:24676357 PMID:24708902 PMID:24728327 PMID:24823459 PMID:24839956 PMID:24909177 PMID:24909261 PMID:25022261 PMID:25118636 PMID:25176334 PMID:25190313 PMID:25231023 PMID:25348012 PMID:25356068 PMID:25451712 PMID:25525159 PMID:25526195 PMID:25640679 PMID:25670082 PMID:25670083 PMID:25741868 PMID:25803323 PMID:25836323 PMID:25998712 PMID:26033159 PMID:26033501 PMID:26241669 PMID:26289771 PMID:26408257 PMID:26428316 PMID:26461232 PMID:26467025 PMID:26475046 PMID:26517685 PMID:26526666 PMID:26545620 PMID:26555935 PMID:26556299 PMID:26566882 PMID:26577641 PMID:26580448 PMID:26592504 PMID:26666178 PMID:26822237 PMID:26841698 PMID:26886166 PMID:26893459 PMID:26925222 PMID:26928971 PMID:26983701 PMID:27036314 PMID:27050224 PMID:27126690 PMID:27459524 PMID:27494611 PMID:27664536 PMID:27697588 PMID:27784193 PMID:27819237 PMID:27830405 PMID:27896549 PMID:27930734 PMID:28007021 PMID:28012864 PMID:28097783 PMID:28177962 PMID:28202063 PMID:28222777 PMID:28323992 PMID:28459098 PMID:28492532 PMID:28502826 PMID:28524158 PMID:28562508 PMID:28624956 PMID:28654427 PMID:28688118 PMID:28748527 PMID:28766837 PMID:28825729 PMID:28834809 PMID:28862265 PMID:28873162 PMID:28960912 PMID:29037807 PMID:29187512 PMID:29315962 PMID:29351919 PMID:29395683 PMID:29399970 PMID:29459759 PMID:29469200 PMID:29474644 PMID:29538609 PMID:29625052 PMID:29633305 PMID:29641532 PMID:29660837 PMID:29706542 PMID:29708584 PMID:29726952 PMID:29753010 PMID:29762508 PMID:29881993 PMID:29883781 PMID:29938629 PMID:29943907 PMID:29945567 PMID:30014022 PMID:30072170 PMID:30093976 PMID:30097050 PMID:30178239 PMID:30260442 PMID:30266945 PMID:30339877 PMID:30446821 PMID:30585947 PMID:30597651 PMID:30649606 PMID:30665929 PMID:30672147 PMID:30989777 PMID:31067372 PMID:31278746 PMID:31285663 PMID:31296931 PMID:31300551 PMID:31342592 PMID:31417090 PMID:31820118 PMID:31838154 PMID:31883967 PMID:31900434 PMID:31911633 PMID:32291395 PMID:32371905 PMID:32692439 PMID:32714280 PMID:32832834 PMID:32973888 PMID:33158809 PMID:33208384 PMID:33372952 PMID:33460435 PMID:33484847 PMID:33630087 PMID:33718253 PMID:33729574 PMID:33767345 PMID:33782093 PMID:34291157 PMID:34313605 PMID:34761719 PMID:34913555 PMID:35194848 PMID:37248399 PMID:37333613 PMID:25500911 PMID:19556464 More...
RGD:149735200 , RGD:11552609
NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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Fam181a
family with sequence similarity 181, member A
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,465,373...122,471,397
Ensembl chr 6:122,465,391...122,471,397
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Fgf9
fibroblast growth factor 9
ISS
MouseDO
NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
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Gsc
goosecoid homeobox
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:123,388,072...123,390,111
Ensembl chr 6:123,388,072...123,390,111
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Ifi27
interferon, alpha-inducible protein 27
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,590,461...122,596,996
Ensembl chr 6:122,590,472...122,779,294
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Ifi27l2a
interferon, alpha-inducible protein 27 like 2A
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,598,872...122,600,358
Ensembl chr 6:122,598,872...122,600,360
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Otub2
OTU deubiquitinase, ubiquitin aldehyde binding 2
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,545,067...122,563,657
Ensembl chr 6:122,545,061...122,563,644
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Ppp4r4
protein phosphatase 4, regulatory subunit 4
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,663,172...122,753,988
Ensembl chr 6:122,663,344...122,753,384
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Prima1
proline rich membrane anchor 1
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,338,365...122,390,955
Ensembl chr 6:122,338,370...122,389,921
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Serpina1
serpin family A member 1
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpina10
serpin family A member 10
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544
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Serpina11
serpin family A member 11
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,903,246...122,912,695
Ensembl chr 6:122,903,250...122,912,670
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Serpina12
serpin family A member 12
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,952,552...122,967,271
Ensembl chr 6:122,952,552...122,967,271
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Serpina1f
serpin family A member 1F
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,820,752...122,827,112
Ensembl chr 6:122,820,907...122,827,112
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Serpina3n
serpin family A member 3N
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
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Serpina4
serpin family A member 4
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,999,970...123,009,083
Ensembl chr 6:122,999,900...123,009,082
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Serpina5
serpin family A member 5
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:123,009,224...123,028,412
Ensembl chr 6:123,023,306...123,028,407
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Serpina6
serpin family A member 6
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349
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Serpina9
serpin family A member 9
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,918,819...122,936,000
Ensembl chr 6:122,918,880...122,936,000
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Ubr7
ubiquitin protein ligase E3 component n-recognin 7
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477
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Unc79
unc-79 homolog, NALCN channel complex subunit
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar
PMID:26545620 PMID:26555935 PMID:28492532
NCBI chr 6:122,082,369...122,327,641
Ensembl chr 6:122,080,308...122,327,591
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Yy1
YY1 transcription factor
ISS
OMIM:601200
MouseDO
NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747
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Flcn
folliculin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spontaneous pneumothorax
CTD ClinVar
PMID:12204536 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
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Hmox1
heme oxygenase 1
ISO
protein:increased expression:lung
RGD
PMID:20526373
RGD:4145332
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Flcn
folliculin
ISO
ClinVar Annotator: match by term: Pneumothorax, primary spontaneous
OMIM ClinVar
PMID:12204536 PMID:12471204 PMID:12843323 PMID:14627671 PMID:15657874 PMID:15852235 PMID:16199547 PMID:17028174 PMID:17496196 PMID:18234728 PMID:18505456 PMID:18579543 PMID:19116017 PMID:19562744 PMID:19802896 PMID:20301695 PMID:20413710 PMID:20522427 PMID:21506000 PMID:21538689 PMID:22068306 PMID:22146830 PMID:22441547 PMID:22703879 PMID:23757202 PMID:23784378 PMID:23874397 PMID:24033266 PMID:24055113 PMID:24728327 PMID:25126726 PMID:25326637 PMID:25519458 PMID:25525159 PMID:25610687 PMID:25637381 PMID:25741868 PMID:25827758 PMID:26028485 PMID:26402642 PMID:26467025 PMID:26659639 PMID:27146957 PMID:27153395 PMID:27220747 PMID:27734835 PMID:27905298 PMID:28007907 PMID:28492532 PMID:28839995 PMID:28873162 PMID:29357828 PMID:29548312 PMID:30360018 PMID:31471370 PMID:31958439 PMID:32091409 PMID:33137092 PMID:33294559 PMID:34008892 PMID:34229741 PMID:34654685 PMID:35176117 PMID:35221599 PMID:35441217 PMID:35578266 PMID:35639097 PMID:35946080 More...
NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
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