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.
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ALDH2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26711020
NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471
G
ANKK1
ankyrin repeat and kinase domain containing 1
ISO
DNA:SNP:exon:rs1800497(human)
RGD
PMID:18669994
RGD:401959336
NCBI chr11:108,267,717...108,280,635
Ensembl chr11:112,111,003...112,123,382
G
DRD2
dopamine receptor D2
ISO
DNA:SNP:cds:957C>T(human)
RGD
PMID:18669994
RGD:401959336
NCBI chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935
G
FOXO4
forkhead box O4
ISO
protein:increased phosphorylation:small intestine:
RGD
PMID:23292333
RGD:10402360
NCBI chr X:60,364,466...60,372,147
Ensembl chr X:70,422,504...70,429,971
G
GSR
glutathione-disulfide reductase
treatment
ISO
RGD
PMID:24972622
RGD:10401897
NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
G
HECTD4
HECT domain E3 ubiquitin protein ligase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35713687
NCBI chr12:109,756,303...109,978,510
Ensembl chr12:113,151,017...113,311,809
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ANK3
ankyrin 3
ISO
DNA:SNP:CDS:rs7917190
RGD
PMID:29109170
RGD:597830079
NCBI chr10:56,560,589...57,269,952
Ensembl chr10:58,790,696...59,602,954
G
ARHGEF10
Rho guanine nucleotide exchange factor 10
ISO
associated with cleft lip; DNA:SNP: :rs2294035, rs4876274
RGD
PMID:31372216
RGD:597830081
NCBI chr 8:5,381,357...5,541,094
Ensembl chr 8:1,724,413...1,862,917
G
RPS6KA1
ribosomal protein S6 kinase A1
ISO
DNA:SNP:CDS:rs4659444
RGD
PMID:29109170
RGD:597830079
NCBI chr 1:25,792,428...25,837,950
Ensembl chr 1:26,856,057...26,900,532
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
HTR2A
5-hydroxytryptamine receptor 2A
ISO
DNA:SNP:promoter:-1438G>A
RGD
PMID:11842624
RGD:401900738
NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ANK3
ankyrin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29109170
NCBI chr10:56,560,589...57,269,952
Ensembl chr10:58,790,696...59,602,954
G
APOE
apolipoprotein E
ISO
RGD
PMID:15007105
RGD:12904641
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
G
AVP
arginine vasopressin
ISO
mRNA:decreased expression:hypothalamic nucleus
RGD
PMID:15142835
RGD:596933086
NCBI chr20:3,169,094...3,172,900
G
BPIFA1
BPI fold containing family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15513904
NCBI chr20:29,524,619...29,532,996
Ensembl chr20:30,642,191...30,649,515
G
C3
complement C3
ISO
protein:increased activity:blood
RGD
PMID:30657461
RGD:408418720
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
G
C5
complement C5
ISO
protein:increased activity:blood
RGD
PMID:30657461
RGD:408418720
NCBI chr 9:92,069,574...92,202,513
Ensembl chr 9:120,426,354...120,523,856
G
CAT
catalase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26074427
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
G
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 chr17:11,261,435...11,313,630
Ensembl chr17:11,650,057...11,701,208
G
DIO3
iodothyronine deiodinase 3
treatment
ISO
RGD
PMID:23763370
RGD:13432044
NCBI chr14:82,188,126...82,190,220
G
DNMT1
DNA methyltransferase 1
ISO
mRNA,protein:increased expression:Pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
G
DNMT3B
DNA methyltransferase 3 beta
ISO
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487
G
DRD2
dopamine receptor D2
ISO
mRNA:decreased expression: pituitary gland (rat) DNA:Hypermethylation:promoter
RGD
PMID:26509893 PMID:28710248
RGD:11344152 RGD:401960105
NCBI chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935
G
EHMT2
euchromatic histone lysine methyltransferase 2
ISO
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr 6:31,542,946...31,560,894
Ensembl chr 6:32,429,271...32,451,844
G
GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
sexual_dimorphism treatment
ISO
in male mice only; mRNA:increased expression:frontal cortex:
RGD
PMID:23763370 PMID:30312858
RGD:13432044 RGD:405866345
NCBI chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357
G
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
ISO
mRNA:increased expression:posterior hypothalamic region (rat)
RGD
PMID:18514412
RGD:402528884
NCBI chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179
G
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
treatment
ISO
RGD
PMID:22037411 PMID:23763370
RGD:13210751 RGD:13432044
NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799
G
HDAC2
histone deacetylase 2
ISO
mRNA,protein:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
G
HDAC4
histone deacetylase 4
ISO
mRNA,protein:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
G
HSD11B2
hydroxysteroid 11-beta dehydrogenase 2
ISO
protein:increased expression:placenta (rat)
RGD
PMID:26342748
RGD:401965481
NCBI chr16:47,776,118...47,782,861
Ensembl chr16:67,165,215...67,171,417
G
IGF1
insulin like growth factor 1
ISO
mRNA:decreased expression:cerebellum (rat)
RGD
PMID:16909201
RGD:12904886
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
G
IGF1R
insulin like growth factor 1 receptor
ISO
protein:decreased activity:cerebellum (rat)
RGD
PMID:16909201
RGD:12904886
NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
G
MAT2A
methionine adenosyltransferase 2A
ISO
mRNA:decreased expression:brain (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr2A:85,589,301...85,595,437
Ensembl chr2A:87,141,857...87,148,322
G
MECP2
methyl-CpG binding protein 2
treatment
ISO
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:23763370 PMID:26509893
RGD:11344152 RGD:13432044
NCBI chr X:143,571,864...143,647,192
Ensembl chr X:153,465,204...153,527,854
G
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
mRNA:decreased expression:brain (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946
G
NOS1
nitric oxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25511929
NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
G
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 chr 4:140,418,624...140,785,180
Ensembl chr 4:152,108,508...152,430,298
G
OPRK1
opioid receptor kappa 1
ISO
DNA, mRNA:hypomethylation, increased expression:ventral tegmental area, prefrontal cortex
RGD
PMID:29678771
RGD:401851055
NCBI chr 8:49,650,844...49,677,494
Ensembl chr 8:47,029,313...47,056,577
G
OPRL1
opioid related nociceptin receptor 1
ISO
mRNA:decreased expression:ventral tegmental area
RGD
PMID:29678771
RGD:401851055
Ensembl chr20:62,004,176...62,017,866
G
PDYN
prodynorphin
ISO
DNA, mRNA:hypomethylation, altered expression:ventral tegmental area, nucleus accumbens
RGD
PMID:29678771
RGD:401851055
NCBI chr20:2,092,171...2,108,141
Ensembl chr20:1,856,850...1,872,452
G
PER2
period circadian regulator 2
treatment
ISO
RGD
PMID:31329297
RGD:405878078
NCBI chr2B:125,477,021...125,521,577
Ensembl chr2B:244,328,122...244,371,040
G
PNOC
prepronociceptin
ISO
mRNA:increased expression:nucleus accumbens
RGD
PMID:29678771
RGD:401851055
NCBI chr 8:27,596,413...27,622,844
Ensembl chr 8:24,796,638...24,822,758
G
POMC
proopiomelanocortin
treatment
ISO
RGD
PMID:31329297
RGD:405878078
NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
G
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 chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829
G
PTEN
phosphatase and tensin homolog
ISO
Protein:increased expression, increased activity:cerebellum (rat)
RGD
PMID:12700235
RGD:12801493
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
G
RASGRF1
Ras protein specific guanine nucleotide releasing factor 1
treatment
ISO
RGD
PMID:23763370
RGD:13432044
NCBI chr15:57,933,152...58,063,824
Ensembl chr15:76,891,556...77,022,534
G
RPS6KA1
ribosomal protein S6 kinase A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29109170
NCBI chr 1:25,792,428...25,837,950
Ensembl chr 1:26,856,057...26,900,532
G
SETD7
SET domain containing 7, histone lysine methyltransferase
ISO
mRNA:decreased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr 4:131,869,999...131,921,342
Ensembl chr 4:143,167,190...143,227,732
G
SLC25A12
solute carrier family 25 member 12
treatment
ISO
RGD
PMID:23763370
RGD:13432044
NCBI chr2B:59,071,123...59,297,327
Ensembl chr2B:176,532,940...176,641,894
G
SLC6A4
solute carrier family 6 member 4
ISO
mRNA:decreased expression:brain (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr17:26,546,177...26,572,301
Ensembl chr17:27,050,900...27,092,882
G
TLR4
toll like receptor 4
ameliorates
ISO
RGD
PMID:30312858
RGD:405866345
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
G
UBE3A
ubiquitin protein ligase E3A
treatment
ISO
RGD
PMID:23763370
RGD:13432044
NCBI chr15:4,494,029...4,595,415
Ensembl chr15:22,747,075...22,825,459
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
RHOA
ras homolog family member A
ISO
protein:increased activation:neuron, cerebellum
RGD
PMID:17109064
RGD:2298867
NCBI chr 3:49,282,009...49,339,887
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