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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Ada
adenosine deaminase
IEP
protein:decreased expression:mesangial cell
RGD
PMID:12472193
RGD:1624290
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29991592
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adipor1
adiponectin receptor 1
IEP
mRNA:decreased expression:skeletal muscle cell
RGD
PMID:16326833
RGD:1625765
NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241
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Adm
adrenomedullin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33491863
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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Adrb1
adrenoceptor beta 1
IEP
associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart
RGD
PMID:21831645
RGD:6893641
NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
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Ager
advanced glycosylation end product-specific receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24036142
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Akr1b1
aldo-keto reductase family 1 member B1
IEP
protein:increased expression:brain, liver
RGD
PMID:17211565
RGD:1626079
NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
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Asip
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37769864
NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
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Avp
arginine vasopressin
IDA
RGD
PMID:16497839
RGD:1601303
NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
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Cacna1e
calcium voltage-gated channel subunit alpha1 E
ISO
RGD
PMID:11735114
RGD:734670
NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450
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Casp8
caspase 8
ISO
RGD
PMID:19194987
RGD:2311428
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Cbl
Cbl proto-oncogene
IEP
mRNA:increased expression:islet of Langerhans (rat)
RGD
PMID:16644676
RGD:11576321
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Ccl11
C-C motif chemokine ligand 11
treatment
ISO
associated with Diabetes Mellitus, Type 1;protein:increased expression:urine
RGD
PMID:20841614 PMID:23893332
RGD:7248408 , RGD:7248413
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cd163
CD163 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd40
CD40 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cnr2
cannabinoid receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32365865
NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
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Cntf
ciliary neurotrophic factor
IEP
protein:decreased expression:sciatic nerve:resulting from galactose feeding or streptozotocin-induced diabetes
RGD
PMID:1571789
RGD:1626119
NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877
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Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20836762
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
IEP
associated with Diabetes Mellitus, Experimental; protein:increased expression:ovary (rat)
RGD
PMID:18353182
RGD:4785271
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Drd1
dopamine receptor D1
IEP
associated with Diabetes Mellitus, Experimental; protein:decreased expression:renal cortex (rat)
RGD
PMID:20339101
RGD:7248446
NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
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Epas1
endothelial PAS domain protein 1
IEP
RGD
PMID:17914354
RGD:10395377
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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F2
coagulation factor II, thrombin
ISO
associated with Myocardial Infarction
RGD
PMID:18487475
RGD:2313851
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F7
coagulation factor VII
ISO
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)
RGD
PMID:3240844
RGD:2312413
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Fbn1
fibrillin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20836762
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Gcg
glucagon
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:3019152 PMID:18669601
NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929
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Gck
glucokinase
treatment
ISO
associated with Diabetes Mellitus, Type 2 CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18056790 PMID:21937665
RGD:7488968
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
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Gip
gastric inhibitory polypeptide
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)
RGD
PMID:19174495
RGD:2312590
NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503
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Gipr
gastric inhibitory polypeptide receptor
IEP ISO
protein:decreased expression:pancreatic islet (rat)
RGD
PMID:17505054 PMID:10611300
RGD:2312603 , RGD:737713
NCBI chr 1:78,804,287...78,814,462
Ensembl chr 1:78,805,593...78,814,462
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Glp1r
glucagon-like peptide 1 receptor
IDA
RGD
PMID:15879053
RGD:1624350
NCBI chr20:8,972,004...9,010,241
Ensembl chr20:8,972,004...9,010,241
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Gpr55
G protein-coupled receptor 55
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30148676
NCBI chr 9:86,584,906...86,640,601
Ensembl chr 9:86,590,885...86,640,613
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Gpx1
glutathione peroxidase 1
treatment
ISO
associated with Diabetes Mellitus, Type 2 CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15184668 PMID:19819955
RGD:11353779
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Grk2
G protein-coupled receptor kinase 2
IDA
associated with Diabetes Mellitus, Experimental
RGD
PMID:16478977
RGD:1625789
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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Hcrt
hypocretin neuropeptide precursor
treatment
IEP
associated with Obesity
RGD
PMID:12217430
RGD:1358430
NCBI chr10:85,689,979...85,691,214
Ensembl chr10:85,689,465...85,691,210
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Hcrtr2
hypocretin receptor 2
treatment
IEP
associated with Obesity
RGD
PMID:12217430
RGD:1358430
NCBI chr 8:76,989,834...77,105,953
Ensembl chr 8:76,989,834...77,105,893
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Hmga1
high mobility group AT-hook 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23512162
NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752
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Hnf1a
HNF1 homeobox A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29753610
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Hp
haptoglobin
ISO
associated with Diabetes;protein:increased glycation:plasma
RGD
PMID:3690840
RGD:1626355
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Hrh3
histamine receptor H3
IDA
RGD
PMID:11684344
RGD:1626408
NCBI chr 3:167,191,551...167,196,642
Ensembl chr 3:167,191,558...167,196,642
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14697232
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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Hspd1
heat shock protein family D (Hsp60) member 1
IEP
protein:increased expression
RGD
PMID:15961182
RGD:1624212
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Hspg2
heparan sulfate proteoglycan 2
ISO
protein:decreased expression:endothelial cell
RGD
PMID:15056491
RGD:1624255
NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
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Htr2a
5-hydroxytryptamine receptor 2A
IDA
RGD
PMID:9128844
RGD:1624376
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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Icam1
intercellular adhesion molecule 1
IEP
associated with Diabetes Mellitus, Experimental; protein:increased expression:cerebral cortex, pyramidal layer (rat)
RGD
PMID:20495289
RGD:4145407
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il1a
interleukin 1 alpha
ISO
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma
RGD
PMID:18211631
RGD:2311062
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
IEP
associated with Diabetes Mellitus, Experimental
RGD
PMID:17047293
RGD:1626631
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
associated with Diabetes Mellitus, Type 1; protein:decreased expression:urine (human)
RGD
PMID:12679866
RGD:6907426
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il6
interleukin 6
ISO
fasting glucose associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (human)
CTD RGD
PMID:29035695 PMID:18752089 PMID:18608123
RGD:2307290 , RGD:2307291
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il7
interleukin 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20376352
NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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Ins1
insulin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26887929 PMID:28422052 PMID:29682576 PMID:32554039
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:8660453 PMID:9861226 PMID:18056790 PMID:29211853
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Insr
insulin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18056790
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Irs2
insulin receptor substrate 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20028942 PMID:25808216
NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
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Itgam
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism associated with type 2 diabetes mellitus;protein:increased expression:granulocyte, monocyte (human)
CTD RGD
PMID:29035695 PMID:23686079
RGD:329901658
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Itgav
integrin subunit alpha V
ISO
mRNA:increased expression:blood vessel endothelial cell
RGD
PMID:11848444
RGD:1627644
NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639
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Ldha
lactate dehydrogenase A
IEP
mRNA:increased expression:beta cell
RGD
PMID:12438314
RGD:1600277
NCBI chr 1:97,371,823...97,381,247
Ensembl chr 1:97,366,021...97,433,472
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Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19716478 PMID:21561152 PMID:29650965 PMID:31313498 PMID:31483951
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:3519326 PMID:15093691 PMID:17065336 PMID:19682441 PMID:20567778 PMID:24384915 PMID:28130181 PMID:29143802 PMID:29743445 PMID:29988851 PMID:29991592 PMID:30635400 PMID:33345901 PMID:35235096 PMID:36066211 PMID:36880193 PMID:26537785 More...
RGD:12911216
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Leprem4Lizh
leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh
IMP
RGD
PMID:26537785
RGD:12911216
G
Mgrn1
mahogunin ring finger 1
ISO
RGD
PMID:16638826
RGD:1641947
NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315
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Mir155
microRNA 155
ISO
RGD
PMID:27711113
RGD:25671464
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mmp9
matrix metallopeptidase 9
IEP
associated with Brain Ischemia
RGD
PMID:17272778
RGD:1642027
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Neurod1
neuronal differentiation 1
ISO
DNA:mutations:promoter, exon:-1972G>A, p.A322N (human)
RGD
PMID:18811724
RGD:2313477
NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649
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Neurog3
neurogenin 3
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:17239820
RGD:1642077
NCBI chr20:30,079,780...30,081,262
Ensembl chr20:30,079,780...30,081,262
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20086057
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11696579
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23458895
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nus1
NUS1 dehydrodolichyl diphosphate synthase subunit
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33812996
NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
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Parp1
poly (ADP-ribose) polymerase 1
susceptibility
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:10077636
RGD:1300264
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Pax4
paired box 4
ISO
ClinVar Annotator: match by term: Hyperglycemia
ClinVar
PMID:15509590 PMID:25741868 PMID:28492532
NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
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Pck1
phosphoenolpyruvate carboxykinase 1
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:16271515
RGD:2311645
NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
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Pcsk1
proprotein convertase subtilisin/kexin type 1
IEP IDA
associated with Diabetes Mellitus, Experimental; protein, mRNA:altered expression:pancreatic islet (rat) associated with Diabetes Mellitus, Experimental; protein:increased expression:hepatocyte (rat)
RGD
PMID:7883951 PMID:17131142
RGD:2308919 , RGD:2308899
NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
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Pdx1
pancreatic and duodenal homeobox 1
IEP ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA, protein:decreased expression:pancreatic islet (rat) associated with Diabetes Mellitus, Experimental; (mouse) associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:stem cell (mouse) mRNA:decreased expression:pancreatic islet (rat) associated with Diabetes Mellitus, Insulin-Dependent; (human)
RGD
PMID:10512364 PMID:16983179 PMID:19245309 PMID:12438314 PMID:17131142
RGD:2311207 , RGD:2311206 , RGD:2311204 , RGD:1600277 , RGD:2308899
NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
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Pklr
pyruvate kinase L/R
IEP
associated with Diabetes Mellitus, Type 2;mRNA, protein:increased expression:liver
RGD
PMID:8605225
RGD:1625587
NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
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Pla2g4a
phospholipase A2 group 4A
IDA
protein:increased activity:vascular associated smooth muscle cell
RGD
PMID:7635966
RGD:1642443
NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
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Pon1
paraoxonase 1
treatment
ISO
associated with Diabetes Mellitus, Type 2
RGD
PMID:23267397
RGD:8547670
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ppargc1a
PPARG coactivator 1 alpha
treatment
ISO IEP IDA
associated with Obesity associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart left ventricle, myocardium (rat)
RGD
PMID:23499865 PMID:19367030 PMID:22922125
RGD:7241854 , RGD:10059674 , RGD:7242061
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Prdx4
peroxiredoxin 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20446767
NCBI chr X:40,026,762...40,044,066
Ensembl chr X:40,026,651...40,044,066
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29367455
NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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Prkcb
protein kinase C, beta
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17443133 PMID:15616014
RGD:1625514
NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
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Prkcz
protein kinase C, zeta
IDA
protein:increased threonine phosphorylation, increased activity:soleus muscle
RGD
PMID:12960081
RGD:1642528
NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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Prnp
prion protein
IDA
RGD
PMID:17146448
RGD:1599950
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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Ptch1
patched 1
ISO
associated with Pancreatic Neoplasms
RGD
PMID:16804411
RGD:2324911
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14514642
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Sdc1
syndecan 1
ISO
protein:decreased expression:blood vessel endothelial cell
RGD
PMID:16810465
RGD:1643127
NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264
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Shc1
SHC adaptor protein 1
susceptibility
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:17360381
RGD:1643173
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
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Sim1
SIM bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18056790
NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212
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Sod1
superoxide dismutase 1
treatment
ISO
associated with Ischemic Attack, Transient; human gene in a rat model
RGD
PMID:17272778
RGD:1642027
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sp1
Sp1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11696579
NCBI chr 7:133,541,302...133,571,961
Ensembl chr 7:133,541,491...133,571,961
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Tf
transferrin
susceptibility
ISO
RGD
PMID:16936158
RGD:1601518
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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Tshb
thyroid stimulating hormone subunit beta
ISO
protein:increased expression:serum
RGD
PMID:7956715
RGD:1624160
NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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Zc3h10
zinc finger CCCH type containing 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31775033
NCBI chr 7:973,415...977,742
Ensembl chr 7:972,855...979,349
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Glrx5
glutaredoxin 5
ISO
ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemia
OMIM ClinVar
PMID:24334290 PMID:25741868 PMID:28492532
NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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Adipor2
adiponectin receptor 2
treatment
IEP
RGD
PMID:23797890
RGD:25330096
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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Agt
angiotensinogen
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26704350
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11564974
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31306034
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Apoc3
apolipoprotein C3
ISO
RGD
PMID:11959336
RGD:1578441
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:serum (human)
RGD
PMID:16306328
RGD:2307103
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Cd36
CD36 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14640889
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26563389
NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
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Coq2
coenzyme Q2, polyprenyltransferase
IEP
associated with obesity
RGD
PMID:26296322
RGD:10755343
NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27036855
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Dusp1
dual specificity phosphatase 1
resistance
ISO
RGD
PMID:16814733
RGD:2298673
NCBI chr10:16,680,478...16,683,275
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Ech1
enoyl-CoA hydratase 1
treatment
ISO
RGD
PMID:31961704
RGD:21408561
NCBI chr 1:84,114,494...84,120,788
Ensembl chr 1:84,112,751...84,120,795
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Frk
fyn-related Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17179392
NCBI chr20:38,265,416...38,371,038
Ensembl chr20:38,265,280...38,371,114
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Gipr
gastric inhibitory polypeptide receptor
ISO
RGD
PMID:10611300
RGD:737713
NCBI chr 1:78,804,287...78,814,462
Ensembl chr 1:78,805,593...78,814,462
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Glp1r
glucagon-like peptide 1 receptor
susceptibility
ISO
RGD
PMID:8898756
RGD:1624349
NCBI chr20:8,972,004...9,010,241
Ensembl chr20:8,972,004...9,010,241
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Gpx4
glutathione peroxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26042203
NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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Hnf1a
HNF1 homeobox A
susceptibility
ISO
DNA:polymorphism: :p.A98V
RGD
PMID:15277395
RGD:1601481
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Hspd1
heat shock protein family D (Hsp60) member 1
disease_progression
ISO
associated with Cystic Fibrosis;
RGD
PMID:11591125
RGD:12910474
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31095431
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
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Il7
interleukin 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20376352
NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21779873
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Insr
insulin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10949030 PMID:10949030
RGD:1302523
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Jak2
Janus kinase 2
treatment
ISO
associated with Alzheimer Disease
RGD
PMID:23223021
RGD:10403052
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Lamtor5
late endosomal/lysosomal adaptor, MAPK and MTOR activator 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29259128
NCBI chr 2:194,900,038...194,905,394
Ensembl chr 2:194,900,038...194,905,395
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Lep
leptin
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21315688 PMID:24150608 PMID:29650965 PMID:22948215
RGD:12904911
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepem1Sage
leptin; zinc finger nuclease induced mutant1, Sage
IMP
RGD
PMID:22948215
RGD:12904911
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Lepr
leptin receptor
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19452630 PMID:25367288 PMID:28611668 PMID:29988851 PMID:27465994 PMID:26537785 More...
RGD:12911217 , RGD:12911216
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:27465994
RGD:12911217
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Leprem4Lizh
leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh
IMP
RGD
PMID:26537785
RGD:12911216
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Metrnl
meteorin-like, glial cell differentiation regulator
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30213948
NCBI chr10:106,963,880...106,977,875
Ensembl chr10:106,963,880...106,977,869
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Mir125a
microRNA 125a
ISO
RGD
PMID:31988048
RGD:21403676
NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
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Mir34a
microRNA 34a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23834033
NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
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Mt-atp6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18273840
NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Neil1
nei-like DNA glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21285402
NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
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Neurod1
neuronal differentiation 1
susceptibility
ISO
DNA:polymorphism: :p.A45T (human)
RGD
PMID:15277395
RGD:1601481
NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649
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Neurog3
neurogenin 3
susceptibility
ISO
DNA:polymorphism:cds:p.S199F
RGD
PMID:15277395
RGD:1601481
NCBI chr20:30,079,780...30,081,262
Ensembl chr20:30,079,780...30,081,262
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33933676
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nono
non-POU domain containing, octamer-binding
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29358041
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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Nr5a2
nuclear receptor subfamily 5, group A, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29515023
NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326
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Nus1
NUS1 dehydrodolichyl diphosphate synthase subunit
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33812996
NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
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Pax6
paired box 6
ISO
associated with Aniridia;DNA:nonsense mutation:cds:p.R240X (human)
RGD
PMID:19034419
RGD:2308929
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Pcsk1
proprotein convertase subtilisin/kexin type 1
ISO
associated with Hyperinsulinemia, Aniridia; mRNA, protein:decreased expression:pancreatic islet (mouse)
RGD
PMID:19034419
RGD:2308929
NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33567340
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Plac8
placenta associated 8
IEP
associated with obesity
RGD
PMID:26296322
RGD:10755343
NCBI chr14:9,052,601...9,074,264
Ensembl chr14:9,063,048...9,074,264
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Plekhs1
pleckstrin homology domain containing S1
IEP
associated with obesity;
RGD
PMID:27523322
RGD:11532750
NCBI chr 1:255,495,634...255,525,353
Ensembl chr 1:255,495,634...255,525,353
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Pon1
paraoxonase 1
ISO
RGD
PMID:11889198
RGD:1642628
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ppargc1a
PPARG coactivator 1 alpha
ISO
mRNA:decreased expression:quadriceps muscle (mouse)
RGD
PMID:19158402
RGD:7242049
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Prdx3
peroxiredoxin 3
IEP
associated with obesity;
RGD
PMID:27523322
RGD:11532750
NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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Prdx4
peroxiredoxin 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20446767
NCBI chr X:40,026,762...40,044,066
Ensembl chr X:40,026,651...40,044,066
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Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19934007
NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
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Prkaa2
protein kinase AMP-activated catalytic subunit alpha 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19934007 PMID:12511592
RGD:1302556
NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
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Rapgef3
Rap guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27381457
NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521
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Rarres2
retinoic acid receptor responder 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22355640
NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
associated with Diabetes Mellitus
RGD
PMID:15602651
RGD:2301815
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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Scd
stearoyl-CoA desaturase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21661758
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21321189
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Slc12a2
solute carrier family 12 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22872759
NCBI chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440
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Slc27a1
solute carrier family 27 member 1
IEP
protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle
RGD
PMID:15281014
RGD:1642794
NCBI chr16:18,278,984...18,300,173
Ensembl chr16:18,278,984...18,296,063
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Sqstm1
sequestosome 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33933676
NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673
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Wfs1
wolframin ER transmembrane glycoprotein
treatment
IMP
RGD
PMID:29976929
RGD:150519890
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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Wfs1em1Ptsn
wolframin ER transmembrane glycoprotein; ZFN induced mutant 1
treatment
IMP
RGD
PMID:29976929
RGD:150519890
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Xbp1
X-box binding protein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27325692
NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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