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.
Please select species to view GViewer data.
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Arrb2
arrestin beta 2
ISO
protein:increased expression:striatum
RGD
PMID:26174132
RGD:11534754
NCBI chrNW_004624786:8,568,102...8,576,445
Ensembl chrNW_004624786:8,568,198...8,577,914
G
G
ARRB2
arrestin beta 2
ISO
protein:increased expression:striatum
RGD
PMID:26174132
RGD:11534754
NCBI chr16:4,191,040...4,202,382
Ensembl chr16:4,191,172...4,202,385
G
P
ARRB2
arrestin beta 2
ISO
protein:increased expression:striatum
RGD
PMID:26174132
RGD:11534754
NCBI chr12:52,161,776...52,170,362
Ensembl chr12:52,161,778...52,170,342
G
S
Arrb2
arrestin beta 2
ISO
protein:increased expression:striatum
RGD
PMID:26174132
RGD:11534754
NCBI chrNW_004936677:3,173,054...3,181,475
Ensembl chrNW_004936677:3,172,925...3,181,520
G
D
ARRB2
arrestin beta 2
ISO
protein:increased expression:striatum
RGD
PMID:26174132
RGD:11534754
NCBI chr 5:31,831,208...31,838,875
Ensembl chr 5:31,829,864...31,839,454
G
B
ARRB2
arrestin beta 2
ISO
protein:increased expression:striatum
RGD
PMID:26174132
RGD:11534754
NCBI chr17:4,766,616...4,777,253
Ensembl chr17:4,757,048...4,767,517
G
C
Arrb2
arrestin beta 2
ISO
protein:increased expression:striatum
RGD
PMID:26174132
RGD:11534754
NCBI chrNW_004955467:10,109,985...10,118,687
Ensembl chrNW_004955467:10,110,003...10,123,022
G
R
Arrb2
arrestin, beta 2
IEP
protein:increased expression:striatum
RGD
PMID:26174132
RGD:11534754
NCBI chr10:55,645,539...55,653,485
Ensembl chr10:55,146,818...55,154,850
G
M
Arrb2
arrestin, beta 2
ISO
protein:increased expression:striatum
RGD
PMID:26174132
RGD:11534754
NCBI chr11:70,323,051...70,331,654
Ensembl chr11:70,323,461...70,331,654
G
H
ARRB2
arrestin beta 2
ISO
protein:increased expression:striatum
RGD
PMID:26174132
RGD:11534754
NCBI chr17:4,710,632...4,721,497
Ensembl chr17:4,710,596...4,721,499
G
N
Drd2
dopamine receptor D2
ISO
RGD
PMID:26174132
RGD:11534754
NCBI chrNW_004624784:8,828,589...8,906,617
Ensembl chrNW_004624784:8,827,006...8,865,529
G
G
DRD2
dopamine receptor D2
ISO
RGD
PMID:26174132
RGD:11534754
NCBI chr 1:104,774,632...104,843,417
Ensembl chr 1:104,774,180...104,842,736
G
P
DRD2
dopamine receptor D2
ISO
RGD
PMID:26174132
RGD:11534754
NCBI chr 9:41,068,618...41,135,262
Ensembl chr 9:41,068,779...41,133,599
G
S
Drd2
dopamine receptor D2
ISO
RGD
PMID:26174132
RGD:11534754
NCBI chrNW_004936612:1,094,686...1,154,149
Ensembl chrNW_004936612:1,094,680...1,154,798
G
D
DRD2
dopamine receptor D2
ISO
RGD
PMID:26174132
RGD:11534754
NCBI chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241
G
B
DRD2
dopamine receptor D2
ISO
RGD
PMID:26174132
RGD:11534754
NCBI chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935
G
C
Drd2
dopamine receptor D2
ISO
RGD
PMID:26174132
RGD:11534754
NCBI chrNW_004955412:15,054,255...15,114,558
Ensembl chrNW_004955412:15,054,038...15,114,573
G
R
Drd2
dopamine receptor D2
IEP
RGD
PMID:26174132
RGD:11534754
NCBI chr 8:58,605,403...58,669,339
Ensembl chr 8:49,708,927...49,772,875
G
M
Drd2
dopamine receptor D2
ISO
RGD
PMID:26174132
RGD:11534754
NCBI chr 9:49,251,703...49,319,468
Ensembl chr 9:49,251,927...49,319,477
G
H
DRD2
dopamine receptor D2
ISO
RGD
PMID:26174132
RGD:11534754
NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
G
N
Gad1
glutamate decarboxylase 1
susceptibility
ISO
protein:decreased expression:prefrontal cortex associated with amphetamine abuse; DNA:haplotype: :rs769404���rs701492(human)
RGD
PMID:24200867 PMID:27967329
RGD:401900122 RGD:401900162
NCBI chrNW_004624787:8,308,759...8,345,929
Ensembl chrNW_004624787:8,308,759...8,347,686
G
G
GAD1
glutamate decarboxylase 1
susceptibility
ISO
associated with amphetamine abuse; DNA:haplotype: :rs769404���rs701492(human) protein:decreased expression:prefrontal cortex
RGD
PMID:24200867 PMID:27967329
RGD:401900122 RGD:401900162
NCBI chr10:56,351,495...56,396,476
Ensembl chr10:56,353,253...56,396,524
G
P
GAD1
glutamate decarboxylase 1
susceptibility
ISO
protein:decreased expression:prefrontal cortex associated with amphetamine abuse; DNA:haplotype: :rs769404���rs701492(human)
RGD
PMID:24200867 PMID:27967329
RGD:401900122 RGD:401900162
NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,812
G
S
Gad1
glutamate decarboxylase 1
susceptibility
ISO
associated with amphetamine abuse; DNA:haplotype: :rs769404���rs701492(human) protein:decreased expression:prefrontal cortex
RGD
PMID:24200867 PMID:27967329
RGD:401900122 RGD:401900162
NCBI chrNW_004936509:1,160,559...1,201,037
Ensembl chrNW_004936509:1,161,094...1,201,576
G
D
GAD1
glutamate decarboxylase 1
susceptibility
ISO
protein:decreased expression:prefrontal cortex associated with amphetamine abuse; DNA:haplotype: :rs769404���rs701492(human)
RGD
PMID:24200867 PMID:27967329
RGD:401900122 RGD:401900162
NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824
G
B
GAD1
glutamate decarboxylase 1
susceptibility
ISO
protein:decreased expression:prefrontal cortex associated with amphetamine abuse; DNA:haplotype: :rs769404���rs701492(human)
RGD
PMID:24200867 PMID:27967329
RGD:401900122 RGD:401900162
NCBI chr2B:58,100,623...58,145,045
Ensembl chr2B:175,558,538...175,602,944
G
C
Gad1
glutamate decarboxylase 1
susceptibility
ISO
protein:decreased expression:prefrontal cortex associated with amphetamine abuse; DNA:haplotype: :rs769404���rs701492(human)
RGD
PMID:24200867 PMID:27967329
RGD:401900122 RGD:401900162
NCBI chrNW_004955449:3,964,006...4,001,850
Ensembl chrNW_004955449:3,963,705...4,001,850
G
R
Gad1
glutamate decarboxylase 1
susceptibility
ISO IEP
associated with amphetamine abuse; DNA:haplotype: :rs769404���rs701492(human) protein:decreased expression:prefrontal cortex
RGD
PMID:27967329 PMID:24200867
RGD:401900122 , RGD:401900162
NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:55,369,704...55,410,333
G
M
Gad1
glutamate decarboxylase 1
susceptibility
ISO
associated with amphetamine abuse; DNA:haplotype: :rs769404���rs701492(human) protein:decreased expression:prefrontal cortex
RGD
PMID:27967329 PMID:24200867
RGD:401900122 , RGD:401900162
NCBI chr 2:70,392,109...70,432,358
Ensembl chr 2:70,383,416...70,432,358
G
H
GAD1
glutamate decarboxylase 1
susceptibility
IAGP ISO
associated with amphetamine abuse; DNA:haplotype: :rs769404���rs701492(human) protein:decreased expression:prefrontal cortex
RGD
PMID:27967329 PMID:24200867
RGD:401900122 , RGD:401900162
NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
G
N
Gad2
glutamate decarboxylase 2
susceptibility
ISO
associated with amphetamine abuse; DNA:SNP: :rs2236418(human)
RGD
PMID:27967329
RGD:401900122
NCBI chrNW_004624796:2,700,443...2,771,757
Ensembl chrNW_004624796:2,703,614...2,771,555
G
G
GAD2
glutamate decarboxylase 2
susceptibility
ISO
associated with amphetamine abuse; DNA:SNP: :rs2236418(human)
RGD
PMID:27967329
RGD:401900122
NCBI chr 9:25,906,047...25,993,715
Ensembl chr 9:25,906,103...25,995,489
G
P
GAD2
glutamate decarboxylase 2
susceptibility
ISO
associated with amphetamine abuse; DNA:SNP: :rs2236418(human)
RGD
PMID:27967329
RGD:401900122
NCBI chr10:49,316,682...49,391,013
Ensembl chr10:49,313,647...49,390,926
G
S
Gad2
glutamate decarboxylase 2
susceptibility
ISO
associated with amphetamine abuse; DNA:SNP: :rs2236418(human)
RGD
PMID:27967329
RGD:401900122
NCBI chrNW_004936484:1,737,806...1,810,378
Ensembl chrNW_004936484:1,737,520...1,810,398
G
D
GAD2
glutamate decarboxylase 2
susceptibility
ISO
associated with amphetamine abuse; DNA:SNP: :rs2236418(human)
RGD
PMID:27967329
RGD:401900122
NCBI chr 2:7,365,708...7,450,893
Ensembl chr 2:7,365,283...7,450,893
G
B
GAD2
glutamate decarboxylase 2
susceptibility
ISO
associated with amphetamine abuse; DNA:SNP: :rs2236418(human)
RGD
PMID:27967329
RGD:401900122
NCBI chr10:26,392,877...26,481,859
Ensembl chr10:26,759,243...26,843,197
G
C
Gad2
glutamate decarboxylase 2
susceptibility
ISO
associated with amphetamine abuse; DNA:SNP: :rs2236418(human)
RGD
PMID:27967329
RGD:401900122
NCBI chrNW_004955429:3,092,977...3,170,128
Ensembl chrNW_004955429:3,096,453...3,169,259
G
R
Gad2
glutamate decarboxylase 2
susceptibility
ISO
associated with amphetamine abuse; DNA:SNP: :rs2236418(human)
RGD
PMID:27967329
RGD:401900122
NCBI chr17:89,671,718...89,734,246
Ensembl chr17:84,763,628...84,826,155
G
M
Gad2
glutamic acid decarboxylase 2
susceptibility
ISO
associated with amphetamine abuse; DNA:SNP: :rs2236418(human)
RGD
PMID:27967329
RGD:401900122
NCBI chr 2:22,512,262...22,583,889
Ensembl chr 2:22,512,217...22,583,886
G
H
GAD2
glutamate decarboxylase 2
susceptibility
IAGP
associated with amphetamine abuse; DNA:SNP: :rs2236418(human)
RGD
PMID:27967329
RGD:401900122
NCBI chr10:26,216,372...26,304,558
Ensembl chr10:26,216,665...26,304,558
G
N
Oprm1
opioid receptor mu 1
ISO
associated with amphetamine abuse;DNA:SNP:intron:IVS2+691G>C (human)
RGD
PMID:16402083
RGD:401827939
NCBI chrNW_004624785:4,147,079...4,195,712
Ensembl chrNW_004624785:4,032,689...4,196,186
G
G
OPRM1
opioid receptor mu 1
ISO
associated with amphetamine abuse;DNA:SNP:intron:IVS2+691G>C (human)
RGD
PMID:16402083
RGD:401827939
NCBI chr13:81,568,295...81,650,005
Ensembl chr13:81,568,732...81,625,088
G
P
OPRM1
opioid receptor mu 1
ISO
associated with amphetamine abuse;DNA:SNP:intron:IVS2+691G>C (human)
RGD
PMID:16402083
RGD:401827939
NCBI chr 1:12,634,125...12,702,295
Ensembl chr 1:12,528,672...12,702,443
G
S
Oprm1
opioid receptor mu 1
ISO
associated with amphetamine abuse;DNA:SNP:intron:IVS2+691G>C (human)
RGD
PMID:16402083
RGD:401827939
NCBI chrNW_004936489:6,506,207...6,567,136
Ensembl chrNW_004936489:6,506,207...6,548,946
G
D
OPRM1
opioid receptor mu 1
ISO
associated with amphetamine abuse;DNA:SNP:intron:IVS2+691G>C (human)
RGD
PMID:16402083
RGD:401827939
NCBI chr 1:43,972,915...44,037,477
Ensembl chr 1:43,972,219...44,141,238
G
B
OPRM1
opioid receptor mu 1
ISO
associated with amphetamine abuse;DNA:SNP:intron:IVS2+691G>C (human)
RGD
PMID:16402083
RGD:401827939
NCBI chr 6:151,827,323...151,937,658
Ensembl chr 6:156,517,661...157,088,251
G
C
Oprm1
opioid receptor mu 1
ISO
associated with amphetamine abuse;DNA:SNP:intron:IVS2+691G>C (human)
RGD
PMID:16402083
RGD:401827939
NCBI chrNW_004955439:7,870,563...7,923,817
Ensembl chrNW_004955439:7,757,569...7,923,817
G
R
Oprm1
opioid receptor, mu 1
ISO
associated with amphetamine abuse;DNA:SNP:intron:IVS2+691G>C (human)
RGD
PMID:16402083
RGD:401827939
NCBI chr 1:45,565,371...45,818,722
Ensembl chr 1:43,160,057...43,413,409
G
M
Oprm1
opioid receptor, mu 1
ISO
associated with amphetamine abuse;DNA:SNP:intron:IVS2+691G>C (human)
RGD
PMID:16402083
RGD:401827939
NCBI chr10:6,708,593...6,988,209
Ensembl chr10:6,708,506...6,988,198
G
H
OPRM1
opioid receptor mu 1
IAGP
associated with amphetamine abuse;DNA:SNP:intron:IVS2+691G>C (human)
RGD
PMID:16402083
RGD:401827939
NCBI chr 6:154,010,496...154,246,867
Ensembl chr 6:154,010,496...154,246,867
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all