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 chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Ankk1
ankyrin repeat and kinase domain containing 1
ISO
DNA:SNP:exon:rs1800497(human)
RGD
PMID:18669994
RGD:401959336
NCBI chr 8:49,779,862...49,788,024
Ensembl chr 8:49,779,862...49,788,024
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Drd2
dopamine receptor D2
ISO
DNA:SNP:cds:957C>T(human)
RGD
PMID:18669994
RGD:401959336
NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
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Foxo4
forkhead box O4
IEP
protein:increased phosphorylation:small intestine:
RGD
PMID:23292333
RGD:10402360
NCBI chr X:66,385,241...66,392,115
Ensembl chr X:66,385,558...66,392,115
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Gsr
glutathione-disulfide reductase
treatment
IEP
RGD
PMID:24972622
RGD:10401897
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Hectd4
HECT domain E3 ubiquitin protein ligase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35713687
NCBI chr12:35,182,165...35,330,935
Ensembl chr12:35,182,154...35,330,987
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Htr2a
5-hydroxytryptamine receptor 2A
ISO
DNA:SNP:promoter:-1438G>A
RGD
PMID:11842624
RGD:401900738
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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Ank3
ankyrin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29109170
NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300
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Apoe
apolipoprotein E
ISO
RGD
PMID:15007105
RGD:12904641
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Bpifa1
BPI fold containing family A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15513904
NCBI chr 3:142,627,810...142,633,553
Ensembl chr 3:142,627,810...142,633,552
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Cat
catalase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26074427
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Crhr1
corticotropin releasing hormone receptor 1
sexual_dimorphism
IEP
associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat)
RGD
PMID:29251811
RGD:401965484
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
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Dnmt1
DNA methyltransferase 1
IEP
mRNA,protein:increased expression:Pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Dnmt3b
DNA methyltransferase 3 beta
IEP
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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Drd2
dopamine receptor D2
IDA IEP
DNA:Hypermethylation:promoter mRNA:decreased expression: pituitary gland (rat)
RGD
PMID:26509893 PMID:28710248
RGD:11344152 , RGD:401960105
NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
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Ehmt2
euchromatic histone lysine methyltransferase 2
IEP
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
IEP
mRNA:increased expression:posterior hypothalamic region (rat)
RGD
PMID:18514412
RGD:402528884
NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346
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Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
treatment
IMP IEP
RGD
PMID:22037411 PMID:23763370
RGD:13210751 , RGD:13432044
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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Hdac2
histone deacetylase 2
IEP
mRNA,protein:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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Hdac4
histone deacetylase 4
IEP
mRNA,protein:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
IEP
protein:increased expression:placenta (rat)
RGD
PMID:26342748
RGD:401965481
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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Igf1
insulin-like growth factor 1
IEP
mRNA:decreased expression:cerebellum (rat)
RGD
PMID:16909201
RGD:12904886
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf1r
insulin-like growth factor 1 receptor
IEP
protein:decreased activity:cerebellum (rat)
RGD
PMID:16909201
RGD:12904886
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Mat2a
methionine adenosyltransferase 2A
IEP
mRNA:decreased expression:brain (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493
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Mecp2
methyl CpG binding protein 2
IEP
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Mir326
microRNA 326
IEP
miRNA:increases expression:pituitary gland (rat)
RGD
PMID:28710248
RGD:401960105
NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123
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Mir9
microRNA 9
IEP
miRNA:increased expression:pituitary gland (rat)
RGD
PMID:28710248
RGD:401960105
NCBI chr 9:1,080,274...1,080,383
Ensembl chr 9:1,080,274...1,080,383
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
IEP
mRNA:decreased expression:brain (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Nos1
nitric oxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25511929
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
sexual_dimorphism
IEP
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 chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Nr3c2
nuclear receptor subfamily 3, group C, member 2
sexual_dimorphism
IEP
associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat)
RGD
PMID:29251811
RGD:401965484
NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885
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Oprk1
opioid receptor, kappa 1
IEP
DNA, mRNA:hypomethylation, increased expression:ventral tegmental area, prefrontal cortex
RGD
PMID:29678771
RGD:401851055
NCBI chr 5:13,860,016...13,877,823
Ensembl chr 5:13,860,021...13,877,823
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Oprl1
opioid related nociceptin receptor 1
IEP
mRNA:decreased expression:ventral tegmental area
RGD
PMID:29678771
RGD:401851055
NCBI chr 3:168,831,934...168,839,920
Ensembl chr 3:168,834,003...168,839,920
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Pdyn
prodynorphin
IEP
DNA, mRNA:hypomethylation, altered expression:ventral tegmental area, nucleus accumbens
RGD
PMID:29678771
RGD:401851055
NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
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Pnoc
prepronociceptin
IEP
mRNA:increased expression:nucleus accumbens
RGD
PMID:29678771
RGD:401851055
NCBI chr15:39,624,635...39,652,463
Ensembl chr15:39,624,641...39,651,867
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Prl
prolactin
IEP
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 chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Pten
phosphatase and tensin homolog
IEP
Protein:increased expression, increased activity:cerebellum (rat)
RGD
PMID:12700235
RGD:12801493
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Rps6ka1
ribosomal protein S6 kinase A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29109170
NCBI chr 5:146,079,018...146,118,272
Ensembl chr 5:146,079,021...146,118,272
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Setd7
SET domain containing 7, histone lysine methyltransferase
IEP
mRNA:decreased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr 2:135,562,683...135,605,468
Ensembl chr 2:135,562,683...135,605,468
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Slc6a4
solute carrier family 6 member 4
IEP
mRNA:decreased expression:brain (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Rhoa
ras homolog family member A
IEP
protein:increased activation:neuron, cerebellum
RGD
PMID:17109064
RGD:2298867
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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