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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Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor
ClinVar
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 More...
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Derl3
derlin 3
ISO
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1
ClinVar
PMID:28492532
NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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Gpc3
glypican 3
ISO
protein:increased expression:brain (human)
RGD
PMID:23530909
RGD:243065128
NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
susceptibility
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor | ClinVar Annotator: match by term: Familial Posterior Fossa Brain Tumor of Infancy | ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical OMIM:609322
CTD ClinVar MouseDO OMIM
PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 PMID:12226744 PMID:17576681 PMID:18414213 PMID:19124645 PMID:21108436 PMID:21208904 PMID:24123847 PMID:24728327 PMID:25741868 PMID:27380723 PMID:28492532 PMID:28873162 PMID:29617669 PMID:34308366 More...
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Smarce1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
ISO
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor
ClinVar
PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7783166 PMID:8550239 PMID:8718514 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:11782540 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:16818505 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22915647 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24835218 PMID:25157968 PMID:25741868 PMID:25952993 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26786923 PMID:27276561 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30816478 PMID:32000721 PMID:32156018 PMID:32817165 PMID:32888145 PMID:33163847 PMID:33245408 PMID:33840814 PMID:34529667 PMID:34709361 PMID:35974385 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
protein:increased expression:kidney (human)
RGD
PMID:20212451
RGD:7207430
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Pgbd5
piggyBac transposable element derived 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28504702
NCBI chr19:52,336,751...52,401,906
Ensembl chr19:52,336,751...52,402,397
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
DNA:nonsense mutation, deletions, insertions:multiple (human) protein:decreased expression:brain, kidney, soft tissue: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25009291 PMID:26343384 PMID:9671307 PMID:16528370
RGD:1599055 , RGD:155804291
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Angptl8
angiopoietin-like 8
ISO
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2
ClinVar
PMID:28492532
NCBI chr 8:20,376,462...20,378,488
Ensembl chr 8:20,376,462...20,378,490
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Dock6
dedicator of cytokinesis 6
ISO
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2
ClinVar
PMID:28492532
NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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Kank2
KN motif and ankyrin repeat domains 2
ISO
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2
ClinVar
PMID:28492532
NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900
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Ldlr
low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2
ClinVar
PMID:28492532
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8269278 PMID:9536098 PMID:11085541 PMID:15756273 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18437052 PMID:19621450 PMID:20137775 PMID:21280140 PMID:21566516 PMID:22424359 PMID:22426308 PMID:23698369 PMID:23775540 PMID:23929686 PMID:24375037 PMID:24448499 PMID:24658001 PMID:24658002 PMID:24658004 PMID:24728327 PMID:25058500 PMID:25060813 PMID:25168959 PMID:25169753 PMID:25231023 PMID:25275049 PMID:25640679 PMID:25741868 PMID:25918285 PMID:26230154 PMID:26343384 PMID:26353884 PMID:26467025 PMID:26552009 PMID:26564006 PMID:26580448 PMID:26744134 PMID:26822237 PMID:26842758 PMID:26901136 PMID:26942101 PMID:27701467 PMID:27930734 PMID:28135719 PMID:28202063 PMID:28454995 PMID:28492532 PMID:28518168 PMID:28608987 PMID:28873162 PMID:28875981 PMID:28973083 PMID:28990276 PMID:29095814 PMID:29102090 PMID:29271065 PMID:29338072 PMID:29446248 PMID:29641532 PMID:29706634 PMID:29758562 PMID:30029678 PMID:30093976 PMID:30111351 PMID:30662543 PMID:30973214 PMID:31097095 PMID:31190001 PMID:31216405 PMID:31278258 PMID:31419753 PMID:31470906 PMID:31530938 PMID:31785789 PMID:31827798 PMID:31874108 PMID:31954538 PMID:32369273 PMID:32376391 PMID:32461654 PMID:32575483 PMID:32686290 PMID:33144586 PMID:33223419 PMID:33461977 PMID:33558524 PMID:33680622 PMID:33799280 PMID:34646395 PMID:34813034 PMID:34906459 PMID:34970085 PMID:35047860 PMID:36474027 PMID:37399313 PMID:37460928 More...
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Spc24
SPC24 component of NDC80 kinetochore complex
ISO
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2
ClinVar
PMID:28492532
NCBI chr 8:20,300,315...20,305,354
Ensembl chr 8:20,300,319...20,305,310
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