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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Ankk1
ankyrin repeat and kinase domain containing 1
susceptibility
ISO
associated with phlegm syndrome;DNA:polymorphism:exon:
RGD
PMID:26138154
RGD:11065747
NCBI chr 8:49,779,862...49,788,024
Ensembl chr 8:49,779,862...49,788,024
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Creb1
cAMP responsive element binding protein 1
treatment
IEP ISO
protein:increased phosphorylation:Prefrontal Cortex, nucleus accumbens (rat)
RGD
PMID:30632799 PMID:31081159
RGD:401901180 , RGD:401940188
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Dlg4
discs large MAGUK scaffold protein 4
treatment
ISO
RGD
PMID:31081159
RGD:401940188
NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
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Drd4
dopamine receptor D4
ISO
association with inhaler;DNA:repeats:exon:
RGD
PMID:11054768
RGD:401960062
NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
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Fosb
FosB proto-oncogene, AP-1 transcription factor subunit
IEP
protein:increased expression:Prefrontal Cortex, nucleus accumbens (rat)
RGD
PMID:30632799
RGD:401901180
NCBI chr 1:78,954,312...78,961,492
Ensembl chr 1:78,954,115...78,961,465
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Grin1
glutamate ionotropic receptor NMDA type subunit 1
ISO
protein:increased expression:medial prefrontal cortex,lateral prefrontal cortex,orbitofrontal cortex
RGD
PMID:29766293
RGD:401938658
NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
ISO
protein:increased expression:orbitofrontal cortex:
RGD
PMID:29766293
RGD:401938658
NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
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Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
ISO
protein:increased expression:medial prefrontal cortex,lateral prefrontal cortex,orbitofrontal cortex
RGD
PMID:29766293
RGD:401938658
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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Htr2a
5-hydroxytryptamine receptor 2A
ISO
mRNA:altered expression:striatum
RGD
PMID:30059705
RGD:401900306
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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Ncam1
neural cell adhesion molecule 1
IMP
RGD
PMID:24399412
RGD:401959321
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
treatment
IMP
RGD
PMID:9636221
RGD:401965473
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Oprd1
opioid receptor, delta 1
treatment susceptibility
ISO
mRNA:increased expression:ventral striatum associated with females, buprenorphine;DNA:SNP:intron (rs581111|rs529520) (human) mRNA:altered expression:testis, omentum (human) DNA:SNP:CDS: rs569356|rs678849 (human)
RGD
PMID:30059705 PMID:24126707 PMID:37660978 PMID:37146669
RGD:401900306 , RGD:402463962 , RGD:402463943 , RGD:401976452
NCBI chr 5:144,306,188...144,340,960
Ensembl chr 5:144,306,188...144,340,960
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Oprk1
opioid receptor, kappa 1
severity
ISO
mRNA:decreased expression:peripheral blood lymphocyte DNA:SNP:CDS: rs997917|rs12548098|rs6473797|rs963549 (human)
RGD
PMID:31710992 PMID:37146669
RGD:401850570 , RGD:401976452
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
ISO
mRNA:increased expression:ventral striatum
RGD
PMID:30059705
RGD:401900306
NCBI chr 3:168,831,934...168,839,920
Ensembl chr 3:168,834,003...168,839,920
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Oprm1
opioid receptor, mu 1
treatment susceptibility
ISO
DNA:SNP:CDS: rs648893 (human) DNA:methylation:exon 1 (rs1799971) (human)
RGD
PMID:37146669 PMID:37660978
RGD:401976452 , RGD:402463943
NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
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Pdyn
prodynorphin
ISO IEP
mRNA, protein:increased expression:peripheral blood lymphocyte protein:increased expression:nucleus accumbens
RGD
PMID:31710992 PMID:24305833
RGD:401850570 , RGD:401850592
NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
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Pomc
proopiomelanocortin
ISO
mRNA:increased expression:ventral striatum
RGD
PMID:30059705
RGD:401900306
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Rgs10
regulator of G-protein signaling 10
IEP
RGD
PMID:22056472
RGD:13524518
NCBI chr 1:182,946,334...182,987,729
Ensembl chr 1:182,946,336...182,987,697
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Rgs2
regulator of G-protein signaling 2
IEP
RGD
PMID:19664213
RGD:13524573
NCBI chr13:55,799,749...55,802,354
Ensembl chr13:55,798,829...55,802,385
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Rgs4
regulator of G-protein signaling 4
IEP
RGD
PMID:22056472
RGD:13524518
NCBI chr13:81,936,775...81,943,103
Ensembl chr13:81,936,775...81,943,068
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