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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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
DNA:mutations:cds CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | ClinVar Annotator: match by term: Pleuropulmonary blastoma
CTD ClinVar 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:26833330 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: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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