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.
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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:74,916,548...75,062,880
Ensembl chr X:70,850,981...70,997,330
G
Gpc3
glypican 3
ISO
protein:increased expression:brain (human)
RGD
PMID:23530909
RGD:243065128
NCBI chr X:136,789,770...137,157,598
Ensembl chr X:131,868,990...132,236,798
G
Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISS ISO
OMIM:609322 ClinVar Annotator: match by term: Teratoid tumor, atypical
MouseDO ClinVar
PMID:25741868
NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620
G
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: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:25741868 PMID:25952993 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 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:33300245 PMID:33840814 PMID:34529667 PMID:34670578 PMID:34709361 PMID:35974385 PMID:36988593 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
protein:increased expression:kidney (human)
RGD
PMID:20212451
RGD:7207430
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
G
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
G
Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
DNA:nonsense mutation, deletions, insertions:multiple (human) CTD Direct Evidence: marker/mechanism protein:decreased expression:brain, kidney, soft tissue:
CTD RGD
PMID:25009291 PMID:26343384 PMID:9671307 PMID:16528370
RGD:1599055 , RGD:155804291
NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all