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.
G
Daxx
death-domain associated protein
ISO
DNA:CNV: (human)
RGD
PMID:30962504
RGD:152025217
NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
G
Nap1l1
nucleosome assembly protein 1-like 1
severity
ISO
mRNA:increased expression:appendix, mucosa (human)
RGD
PMID:16794389
RGD:9590083
NCBI chr 7:46,933,278...46,957,853
Ensembl chr 7:46,933,356...46,956,593
G
F2
coagulation factor II
ISO
RGD
PMID:21663567
RGD:5147751
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16367942
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16367942
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Plau
plasminogen activator, urokinase
ISO
protein:increased expression:appendix
RGD
PMID:19153874
RGD:6483822
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Appendicitis
ClinVar
PMID:11230481 PMID:15320968 PMID:16384843 PMID:16849421 PMID:18058472 PMID:18322301 PMID:18936155 PMID:19269918 PMID:19399650 PMID:19522830 PMID:19775624 PMID:19826964 PMID:19906784 PMID:21479187 PMID:21551259 PMID:21986619 PMID:23067224 PMID:24033266 PMID:24728327 PMID:25326637 PMID:25637381 PMID:25741868 PMID:26332594 PMID:26489027 PMID:27379493 PMID:28492532 PMID:28946813 PMID:31937788 PMID:33167350 More...
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
G
Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14688030
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
G
Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14688030
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
G
Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14688030
NCBI chr 4:178,185,418...178,218,484
G
Krt20
keratin 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14688030
NCBI chr10:84,384,802...84,394,107
Ensembl chr10:84,384,802...84,394,107
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14688030
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all