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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Aldh2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26711020
NCBI chrNW_004936558:4,362,693...4,387,705
Ensembl chrNW_004936558:4,362,654...4,390,414
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Ankk1
ankyrin repeat and kinase domain containing 1
ISO
DNA:SNP:exon:rs1800497(human)
RGD
PMID:18669994
RGD:401959336
NCBI chrNW_004936612:1,161,961...1,173,318
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Drd2
dopamine receptor D2
ISO
DNA:SNP:cds:957C>T(human)
RGD
PMID:18669994
RGD:401959336
NCBI chrNW_004936612:1,094,686...1,154,149
Ensembl chrNW_004936612:1,094,680...1,154,798
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Foxo4
forkhead box O4
ISO
protein:increased phosphorylation:small intestine:
RGD
PMID:23292333
RGD:10402360
NCBI chrNW_004936762:495,271...501,278
Ensembl chrNW_004936762:493,910...501,531
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Gsr
glutathione-disulfide reductase
treatment
ISO
RGD
PMID:24972622
RGD:10401897
NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166
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Hectd4
HECT domain E3 ubiquitin protein ligase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35713687
NCBI chrNW_004936668:2,390,902...2,514,653
Ensembl chrNW_004936668:2,390,405...2,514,708
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Htr2a
5-hydroxytryptamine receptor 2A
ISO
DNA:SNP:promoter:-1438G>A
RGD
PMID:11842624
RGD:401900738
NCBI chrNW_004936565:335,238...394,683
Ensembl chrNW_004936565:334,393...394,715
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Ank3
ankyrin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29109170
NCBI chrNW_004936614:2,664,594...2,976,174
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Apoe
apolipoprotein E
ISO
RGD
PMID:15007105
RGD:12904641
NCBI chrNW_004936706:1,512,438...1,516,805
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Cat
catalase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26074427
NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422
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Crhr1
corticotropin releasing hormone receptor 1
sexual_dimorphism
ISO
associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat)
RGD
PMID:29251811
RGD:401965484
NCBI chrNW_004936541:2,288,847...2,333,129
Ensembl chrNW_004936541:2,288,841...2,331,689
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Dnmt1
DNA methyltransferase 1
ISO
mRNA,protein:increased expression:Pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416
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Dnmt3b
DNA methyltransferase 3 beta
ISO
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chrNW_004936485:19,547,836...19,570,716
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Drd2
dopamine receptor D2
ISO
DNA:Hypermethylation:promoter mRNA:decreased expression: pituitary gland (rat)
RGD
PMID:26509893 PMID:28710248
RGD:11344152 RGD:401960105
NCBI chrNW_004936612:1,094,686...1,154,149
Ensembl chrNW_004936612:1,094,680...1,154,798
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Ehmt2
euchromatic histone lysine methyltransferase 2
ISO
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chrNW_004936727:1,648,451...1,663,294
Ensembl chrNW_004936727:1,648,448...1,663,455
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma2
ISO
mRNA:increased expression:posterior hypothalamic region (rat)
RGD
PMID:18514412
RGD:402528884
NCBI chrNW_004936515:1,609,370...1,670,412
Ensembl chrNW_004936515:1,607,722...1,671,336
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Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
treatment
ISO
RGD
PMID:22037411 PMID:23763370
RGD:13210751 RGD:13432044
NCBI chrNW_004936587:3,406,055...3,806,956
Ensembl chrNW_004936587:3,405,698...3,804,664
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Hdac2
histone deacetylase 2
ISO
mRNA,protein:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chrNW_004936679:2,448,676...2,474,641
Ensembl chrNW_004936679:2,448,390...2,474,641
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Hdac4
histone deacetylase 4
ISO
mRNA,protein:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chrNW_004936745:1,730,743...1,942,071
Ensembl chrNW_004936745:1,730,694...1,942,074
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
ISO
protein:increased expression:placenta (rat)
RGD
PMID:26342748
RGD:401965481
NCBI chrNW_004936475:17,882,663...17,888,708
Ensembl chrNW_004936475:17,882,575...17,887,748
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Igf1
insulin like growth factor 1
ISO
mRNA:decreased expression:cerebellum (rat)
RGD
PMID:16909201
RGD:12904886
NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351
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Igf1r
insulin like growth factor 1 receptor
ISO
protein:decreased activity:cerebellum (rat)
RGD
PMID:16909201
RGD:12904886
NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925
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Mat2a
methionine adenosyltransferase 2A
ISO
mRNA:decreased expression:brain (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chrNW_004936712:1,710,513...1,717,339
Ensembl chrNW_004936712:1,709,716...1,717,499
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Mecp2
methyl-CpG binding protein 2
ISO
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
mRNA:decreased expression:brain (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chrNW_004936484:16,087,924...16,180,089
Ensembl chrNW_004936484:16,087,923...16,180,148
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Nos1
nitric oxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25511929
NCBI chrNW_004936558:5,162,471...5,302,488
Ensembl chrNW_004936558:5,233,459...5,301,414
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Nr3c1
nuclear receptor subfamily 3 group C member 1
sexual_dimorphism
ISO
associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat) associated with adrenalectomy, chronic stress, female; mRNA:increased expression:prefrontal cortex (rat)
RGD
PMID:29251811 PMID:30367959
RGD:401965484 RGD:401966864
NCBI chrNW_004936504:10,960,069...11,056,834
Ensembl chrNW_004936504:10,959,192...11,056,856
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Nr3c2
nuclear receptor subfamily 3 group C member 2
sexual_dimorphism
ISO
associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat)
RGD
PMID:29251811
RGD:401965484
NCBI chrNW_004936535:1,139,687...1,467,469
Ensembl chrNW_004936535:1,140,178...1,467,471
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Oprk1
opioid receptor kappa 1
ISO
DNA, mRNA:hypomethylation, increased expression:ventral tegmental area, prefrontal cortex
RGD
PMID:29678771
RGD:401851055
NCBI chrNW_004936496:280,593...305,900
Ensembl chrNW_004936496:280,558...305,904
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Oprl1
opioid related nociceptin receptor 1
ISO
mRNA:decreased expression:ventral tegmental area
RGD
PMID:29678771
RGD:401851055
NCBI chrNW_004936514:11,264,392...11,273,584
Ensembl chrNW_004936514:11,258,335...11,273,592
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Pdyn
prodynorphin
ISO
DNA, mRNA:hypomethylation, altered expression:ventral tegmental area, nucleus accumbens
RGD
PMID:29678771
RGD:401851055
NCBI chrNW_004936485:16,559,371...16,571,461
Ensembl chrNW_004936485:16,559,217...16,571,678
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Pnoc
prepronociceptin
ISO
mRNA:increased expression:nucleus accumbens
RGD
PMID:29678771
RGD:401851055
NCBI chrNW_004936675:1,113,435...1,134,916
Ensembl chrNW_004936675:1,113,435...1,134,910
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Prl
prolactin
ISO
mRNA, protein:increased expression:pituitary gland, blood plasma (rat) mRNA,protein:increased expression:pituitary gland, blood plasma (rat)
RGD
PMID:26509893 PMID:28710248
RGD:11344152 RGD:401960105
NCBI chrNW_004936552:7,204,298...7,212,632
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Pten
phosphatase and tensin homolog
ISO
Protein:increased expression, increased activity:cerebellum (rat)
RGD
PMID:12700235
RGD:12801493
NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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Rps6ka1
ribosomal protein S6 kinase A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29109170
NCBI chrNW_004936474:10,996,867...11,030,504
Ensembl chrNW_004936474:10,996,813...11,030,557
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Setd7
SET domain containing 7, histone lysine methyltransferase
ISO
mRNA:decreased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chrNW_004936535:8,094,479...8,143,108
Ensembl chrNW_004936535:8,094,178...8,137,580
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Slc6a4
solute carrier family 6 member 4
ISO
mRNA:decreased expression:brain (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chrNW_004936538:6,205,268...6,239,062
Ensembl chrNW_004936538:6,205,251...6,239,083
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Rhoa
ras homolog family member A
ISO
protein:increased activation:neuron, cerebellum
RGD
PMID:17109064
RGD:2298867
NCBI chrNW_004936529:1,000,050...1,045,655
Ensembl chrNW_004936529:999,935...1,045,681
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