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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Bche
butyrylcholinesterase
severity
ISO
RGD
PMID:21540357
RGD:401960084
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Ccl5
C-C motif chemokine ligand 5
severity
ISO
RGD
PMID:21806491
RGD:401794583
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Cd40lg
CD40 ligand
severity
ISO
RGD
PMID:21806491
RGD:401794583
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Chrna5
cholinergic receptor nicotinic alpha 5 subunit
onset
ISO
DNA:SNP:exon:rs16969968(human)
RGD
PMID:32841724
RGD:150530292
NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
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Chrna6
cholinergic receptor nicotinic alpha 6 subunit
susceptibility
ISO
DNA:SNP::rs892413(human)
RGD
PMID:24675634
RGD:405849277
NCBI chr16:64,697,741...64,704,441
Ensembl chr16:64,697,741...64,704,441
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Chrnb4
cholinergic receptor nicotinic beta 4 subunit
onset
ISO
DNA:SNP::rs950776(human)
RGD
PMID:32841724
RGD:150530292
NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027
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Creb1
cAMP responsive element binding protein 1
ISO IDA
protein:increased expression, increased phosphorylation:prefrontal cortex
RGD
PMID:24205196 PMID:18001273
RGD:401940185 , RGD:401959587
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Fkbp5
FKBP prolyl isomerase 5
sexual_dimorphism
IEP
mRNA:increased expression:brain (rat)
RGD
PMID:31029877
RGD:401976486
NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
treatment
ISO
RGD
PMID:28366798
RGD:405100962
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Fosb
FosB proto-oncogene, AP-1 transcription factor subunit
IEP
associated with alcohol dependence;protein:increased expression: caudate-putamen (rat)
RGD
PMID:17572394
RGD:401900302
NCBI chr 1:78,954,312...78,961,492
Ensembl chr 1:78,954,115...78,961,465
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Gria1
glutamate ionotropic receptor AMPA type subunit 1
sexual_dimorphism
ISO IEP
protein:increased expression:prefrontal cortex (mouse) protein:decreased expression:nucleus accumbens (mouse) protein:increased expression:nucleus accumbens (rat)
RGD
PMID:33497752 PMID:22197517 PMID:11801363
RGD:401976469 , RGD:405650197 , RGD:405650201
NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
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Hcrt
hypocretin neuropeptide precursor
treatment
ISO
RGD
PMID:29454841
RGD:401960065
NCBI chr10:85,689,979...85,691,214
Ensembl chr10:85,689,465...85,691,210
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Htr1a
5-hydroxytryptamine receptor 1A
IEP
protein:decreased expression:dentate gyrus, hypothalamus
RGD
PMID:9723786
RGD:401900605
NCBI chr 2:36,693,462...36,698,026
Ensembl chr 2:36,694,174...36,695,442
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Htr2a
5-hydroxytryptamine receptor 2A
treatment
IEP IMP
mRNA:increased expression:orbitofrontal cortex
RGD
PMID:27733540 PMID:11259563 PMID:20814782
RGD:401900753 , RGD:401900755 , RGD:401901179
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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Htr2c
5-hydroxytryptamine receptor 2C
treatment
IMP
RGD
PMID:20814782
RGD:401901179
NCBI chr X:110,640,777...110,870,288
Ensembl chr X:110,641,153...110,870,287
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Mapk1
mitogen activated protein kinase 1
IDA
protein:increased phosphorylation:nucleus accumbens
RGD
PMID:25522720
RGD:401851063
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mapk3
mitogen activated protein kinase 3
IDA
protein:increased phosphorylation:nucleus accumbens
RGD
PMID:25522720
RGD:401851063
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Npy1r
neuropeptide Y receptor Y1
susceptibility
ISO
DNA:SNP:intron: (rs4518200) (human)
RGD
PMID:33242852
RGD:402463938
NCBI chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
treatment
IMP
RGD
PMID:12805318 PMID:9765324
RGD:401976288 , RGD:401976376
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Pdyn
prodynorphin
IEP
mRNA:increased expression:caudate putamen mRNA:increased expression:central amygdaloid nucleus, dentate gyrus of hippocampal formation
RGD
PMID:7694032 PMID:12523490
RGD:401850578 , RGD:401850585
NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
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Prl
prolactin
treatment
ISO
RGD
PMID:17391744
RGD:401960113
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all