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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.
Term:hyperglycemia
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Accession:DOID:4195 term browser browse the term
Definition:Abnormally high BLOOD GLUCOSE level.
Synonyms:exact_synonym: Hyperglycemias;   Postprandial Hyperglycemia;   Postprandial Hyperglycemias
 primary_id: MESH:D006943
 xref: ICD10CM:R73.9;   MONDO:0002909;   NCI:C26797
For additional species annotation, visit the Alliance of Genome Resources.

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hyperglycemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO protein:decreased expression:mesangial cell RGD PMID:12472193 RGD:1624290 NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO CTD Direct Evidence: therapeutic CTD PMID:29991592 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402 		JBrowse link
G Adipor1 adiponectin receptor 1 ISO mRNA:decreased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chrNW_004955406:38,939,167...38,955,647
Ensembl chrNW_004955406:38,936,588...38,955,352 		JBrowse link
G Adm adrenomedullin ISO CTD Direct Evidence: therapeutic CTD PMID:33491863 NCBI chrNW_004955414:25,951,473...25,953,593
Ensembl chrNW_004955414:25,951,349...25,953,645 		JBrowse link
G Adrb1 adrenoceptor beta 1 ISO associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart RGD PMID:21831645 RGD:6893641 NCBI chrNW_004955431:19,025,663...19,027,026 JBrowse link
G Ager advanced glycosylation end-product specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036142 NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479 		JBrowse link
G Asip agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:37769864 NCBI chrNW_004955422:27,021,810...27,150,339
Ensembl chrNW_004955422:27,020,386...27,057,626 		JBrowse link
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO RGD PMID:11735114 RGD:734670 NCBI chrNW_004955406:20,356,564...20,824,679
Ensembl chrNW_004955406:20,510,954...20,816,678 		JBrowse link
G Casp8 caspase 8 ISO RGD PMID:19194987 RGD:2311428 NCBI chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053 		JBrowse link
G Cbl Cbl proto-oncogene ISO mRNA:increased expression:islet of Langerhans (rat) RGD PMID:16644676 RGD:11576321 NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539 		JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093 		JBrowse link
G Cnr2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32365865 NCBI chrNW_004955452:3,763,742...3,795,069
Ensembl chrNW_004955452:3,763,742...3,795,069 		JBrowse link
G Cntf ciliary neurotrophic factor ISO protein:decreased expression:sciatic nerve:resulting from galactose feeding or streptozotocin-induced diabetes RGD PMID:1571789 RGD:1626119 NCBI chrNW_004955511:3,527,552...3,531,275
Ensembl chrNW_004955511:3,527,552...3,534,348 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887 		JBrowse link
G Drd1 dopamine receptor D1 ISO associated with Diabetes Mellitus, Experimental; protein:decreased expression:renal cortex (rat) RGD PMID:20339101 RGD:7248446 NCBI chrNW_004955408:28,003,229...28,006,595
Ensembl chrNW_004955408:28,003,229...28,006,595 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:17914354 RGD:10395377 NCBI chrNW_004955441:13,244,626...13,328,220
Ensembl chrNW_004955441:13,244,626...13,328,369 		JBrowse link
G F2 coagulation factor II, thrombin ISO associated with Myocardial Infarction RGD PMID:18487475 RGD:2313851 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517 		JBrowse link
G F7 coagulation factor VII ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:3240844 RGD:2312413 NCBI chrNW_004955404:685,170...692,797
Ensembl chrNW_004955404:680,594...693,665 		JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:3019152 PMID:18669601 NCBI chrNW_004955449:11,708,152...11,716,429
Ensembl chrNW_004955449:11,708,152...11,716,429 		JBrowse link
G Gck glucokinase treatment ISO associated with Diabetes Mellitus, Type 2
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18056790 PMID:21937665 RGD:7488968 NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129 		JBrowse link
G Gip gastric inhibitory polypeptide ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) RGD PMID:19174495 RGD:2312590 NCBI chrNW_004955451:12,390,938...12,396,599 JBrowse link
G Gipr gastric inhibitory polypeptide receptor ISO protein:decreased expression:pancreatic islet (rat) RGD PMID:10611300 PMID:17505054 RGD:2312603 RGD:737713 NCBI chrNW_004955574:140,307...153,684
Ensembl chrNW_004955574:140,307...156,899 		JBrowse link
G Glp1r glucagon like peptide 1 receptor ISO RGD PMID:15879053 RGD:1624350 NCBI chrNW_004955437:4,394,088...4,418,172
Ensembl chrNW_004955437:4,395,039...4,418,186 		JBrowse link
G Gpr55 G protein-coupled receptor 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30148676 NCBI chrNW_004955453:4,470,602...4,520,036 JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Type 2		 CTD
RGD		 PMID:15184668 PMID:19819955 RGD:11353779 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO associated with Diabetes Mellitus, Experimental RGD PMID:16478977 RGD:1625789 NCBI chrNW_004955422:18,173,438...18,192,357
Ensembl chrNW_004955422:18,170,616...18,192,412 		JBrowse link
G Hcrt hypocretin neuropeptide precursor treatment ISO associated with Obesity RGD PMID:12217430 RGD:1358430 NCBI chrNW_004955451:16,235,819...16,237,457
Ensembl chrNW_004955451:16,235,819...16,237,457 		JBrowse link
G Hcrtr2 hypocretin receptor 2 treatment ISO associated with Obesity RGD PMID:12217430 RGD:1358430 NCBI chrNW_004955411:970,892...1,010,138 JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chrNW_004955437:2,478,414...2,486,809
Ensembl chrNW_004955437:2,478,414...2,486,809 		JBrowse link
G Hnf1a HNF1 homeobox A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29753610 NCBI chrNW_004955455:10,694,102...10,717,613
Ensembl chrNW_004955455:10,694,102...10,717,613 		JBrowse link
G Hrh3 histamine receptor H3 ISO RGD PMID:11684344 RGD:1626408 NCBI chrNW_004955528:1,819,247...1,826,707
Ensembl chrNW_004955528:1,819,247...1,826,707 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14697232 NCBI chrNW_004955489:2,500,928...2,524,715
Ensembl chrNW_004955489:2,497,680...2,524,805 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression RGD PMID:15961182 RGD:1624212 NCBI chrNW_004955403:3,062,724...3,073,419
Ensembl chrNW_004955403:3,063,133...3,073,419 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO protein:decreased expression:endothelial cell RGD PMID:15056491 RGD:1624255 NCBI chrNW_004955452:2,056,428...2,141,937
Ensembl chrNW_004955452:2,057,326...2,120,280 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO RGD PMID:9128844 RGD:1624376 NCBI chrNW_004955431:583,165...646,991
Ensembl chrNW_004955431:580,713...647,345 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:cerebral cortex, pyramidal layer (rat) RGD PMID:20495289 RGD:4145407 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755 		JBrowse link
G Il1a interleukin 1 alpha ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma RGD PMID:18211631 RGD:2311062 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466 		JBrowse link
G Il1b interleukin 1 beta ISO associated with Diabetes Mellitus, Experimental RGD PMID:17047293 RGD:1626631 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO associated with Diabetes Mellitus, Type 1; protein:decreased expression:urine (human) RGD PMID:12679866 RGD:6907426 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471 		JBrowse link
G Il6 interleukin 6 ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (human)
CTD Direct Evidence: marker/mechanism
fasting glucose associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human)		 RGD
CTD		 PMID:18608123 PMID:18752089 PMID:29035695 RGD:2307290 RGD:2307291 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: therapeutic CTD PMID:20376352 NCBI chrNW_004955444:2,365,077...2,400,953 JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:8660453 PMID:9861226 PMID:18056790 PMID:29211853 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18056790 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20028942 PMID:25808216 NCBI chrNW_004955404:2,531,484...2,555,383
Ensembl chrNW_004955404:2,531,484...2,555,689 		JBrowse link
G 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:23686079 PMID:29035695 RGD:329901658 NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759 		JBrowse link
G Itgav integrin subunit alpha V ISO mRNA:increased expression:blood vessel endothelial cell RGD PMID:11848444 RGD:1627644 NCBI chrNW_004955403:11,588,536...11,669,809
Ensembl chrNW_004955403:11,592,339...11,659,297 		JBrowse link
G Ldha lactate dehydrogenase A ISO mRNA:increased expression:beta cell RGD PMID:12438314 RGD:1600277 NCBI chrNW_004955414:33,087,745...33,100,846 JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19716478 PMID:21561152 PMID:29650965 PMID:31313498 PMID:31483951 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472 		JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:3519326 PMID:15093691 PMID:17065336 PMID:19682441 PMID:20567778 More... RGD:12911216 NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407 		JBrowse link
G LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:ovary (rat) RGD PMID:18353182 RGD:4785271 NCBI chrNW_004955450:3,433,310...3,484,462
Ensembl chrNW_004955450:3,474,491...3,484,232 		JBrowse link
G LOC102027549 serotransferrin susceptibility ISO RGD PMID:16936158 RGD:1601518 NCBI chrNW_004955501:4,801,710...4,832,025
Ensembl chrNW_004955501:4,801,885...4,831,910 		JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO RGD PMID:16638826 RGD:1641947 NCBI chrNW_004955442:12,780,795...12,823,716
Ensembl chrNW_004955442:12,781,539...12,824,222 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with Brain Ischemia RGD PMID:17272778 RGD:1642027 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Neurod1 neuronal differentiation 1 ISO DNA:mutations:promoter, exon:-1972G>A, p.A322N (human) RGD PMID:18811724 RGD:2313477 NCBI chrNW_004955403:15,595,888...15,600,040
Ensembl chrNW_004955403:15,595,888...15,600,040 		JBrowse link
G Neurog3 neurogenin 3 ISO associated with Diabetes Mellitus, Experimental RGD PMID:17239820 RGD:1642077 NCBI chrNW_004955437:21,577,896...21,578,546 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20086057 NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11696579 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23458895 NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604 		JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO CTD Direct Evidence: therapeutic CTD PMID:33812996 NCBI chrNW_004955436:825,387...850,558
Ensembl chrNW_004955436:825,387...850,558 		JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 susceptibility ISO associated with Diabetes Mellitus, Experimental RGD PMID:10077636 RGD:1300264 NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615 		JBrowse link
G Pax4 paired box 4 ISO ClinVar Annotator: match by term: Hyperglycemia ClinVar PMID:15509590 PMID:25741868 PMID:28492532 NCBI chrNW_004955479:8,660,089...8,664,463
Ensembl chrNW_004955479:8,660,089...8,664,463 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:16271515 RGD:2311645 NCBI chrNW_004955445:1,909,012...1,914,032
Ensembl chrNW_004955445:1,908,946...1,915,002 		JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO 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:2308899 RGD:2308919 NCBI chrNW_004955418:16,181,809...16,224,274
Ensembl chrNW_004955418:16,181,771...16,224,603 		JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO mRNA:decreased expression:pancreatic islet (rat)
associated with Diabetes Mellitus, Insulin-Dependent; (human)
associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:stem cell (mouse)
associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA, protein:decreased expression:pancreatic islet (rat)
associated with Diabetes Mellitus, Experimental; (mouse)		 RGD PMID:10512364 PMID:12438314 PMID:16983179 PMID:17131142 PMID:19245309 RGD:1600277 RGD:2308899 RGD:2311204 RGD:2311206 RGD:2311207 NCBI chrNW_004955497:7,281,886...7,307,969 JBrowse link
G Pklr pyruvate kinase L/R ISO associated with Diabetes Mellitus, Type 2;mRNA, protein:increased expression:liver RGD PMID:8605225 RGD:1625587 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632 		JBrowse link
G Pla2g4a phospholipase A2 group IVA ISO protein:increased activity:vascular associated smooth muscle cell RGD PMID:7635966 RGD:1642443 NCBI chrNW_004955406:25,257,361...25,392,079
Ensembl chrNW_004955406:25,257,355...25,394,206 		JBrowse link
G Pon1 paraoxonase 1 treatment ISO associated with Diabetes Mellitus, Type 2 RGD PMID:23267397 RGD:8547670 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment ISO associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart left ventricle, myocardium (rat)
associated with Obesity		 RGD PMID:19367030 PMID:22922125 PMID:23499865 RGD:10059674 RGD:7241854 RGD:7242061 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435 		JBrowse link
G Prdx4 peroxiredoxin 4 ISO CTD Direct Evidence: therapeutic CTD PMID:20446767 NCBI chrNW_004955509:4,111,501...4,132,529
Ensembl chrNW_004955509:4,116,379...4,132,529 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chrNW_004955478:4,241,283...4,262,119
Ensembl chrNW_004955478:4,241,283...4,263,087 		JBrowse link
G Prkcb protein kinase C beta ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15616014 PMID:17443133 RGD:1625514 NCBI chrNW_004955493:2,395,494...2,710,522
Ensembl chrNW_004955493:2,395,109...2,710,934 		JBrowse link
G Prkcz protein kinase C zeta ISO protein:increased threonine phosphorylation, increased activity:soleus muscle RGD PMID:12960081 RGD:1642528 NCBI chrNW_004955486:8,947,579...9,021,702
Ensembl chrNW_004955486:8,947,579...9,021,702 		JBrowse link
G Prnp prion protein (Kanno blood group) ISO RGD PMID:17146448 RGD:1599950 NCBI chrNW_004955415:15,442,313...15,454,644
Ensembl chrNW_004955415:15,442,313...15,454,644 		JBrowse link
G Ptch1 patched 1 ISO associated with Pancreatic Neoplasms RGD PMID:16804411 RGD:2324911 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14514642 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171 		JBrowse link
G Sdc1 syndecan 1 ISO protein:decreased expression:blood vessel endothelial cell RGD PMID:16810465 RGD:1643127 NCBI chrNW_004955469:2,762,696...2,773,697 JBrowse link
G Shc1 SHC adaptor protein 1 susceptibility ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:17360381 RGD:1643173 NCBI chrNW_004955545:1,468,391...1,479,209
Ensembl chrNW_004955545:1,468,391...1,476,814 		JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18056790 NCBI chrNW_004955411:26,173,009...26,256,545
Ensembl chrNW_004955411:26,173,009...26,259,752 		JBrowse link
G Sod1 superoxide dismutase 1 treatment ISO associated with Ischemic Attack, Transient; human gene in a rat model RGD PMID:17272778 RGD:1642027 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727 		JBrowse link
G Sp1 Sp1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11696579 NCBI chrNW_004955458:644,435...677,360
Ensembl chrNW_004955458:644,378...677,441 		JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO protein:increased expression:serum RGD PMID:7956715 RGD:1624160 NCBI chrNW_004955435:18,316,585...18,339,935
Ensembl chrNW_004955435:18,316,585...18,339,935 		JBrowse link
G Zc3h10 zinc finger CCCH-type containing 10 ISO CTD Direct Evidence: therapeutic CTD PMID:31775033 NCBI chrNW_004955458:3,720,451...3,725,196
Ensembl chrNW_004955458:3,720,709...3,725,196 		JBrowse link
Childhood-Onset Spasticity with Hyperglycinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemia OMIM
ClinVar		 PMID:24334290 PMID:25741868 PMID:28492532 NCBI chrNW_004955438:17,067,017...17,076,162
Ensembl chrNW_004955438:17,066,955...17,075,789 		JBrowse link
glucose intolerance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipor2 adiponectin receptor 2 treatment ISO RGD PMID:23797890 RGD:25330096 NCBI chrNW_004955454:4,243,898...4,327,255
Ensembl chrNW_004955454:4,243,898...4,327,308 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: therapeutic CTD PMID:26704350 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: therapeutic CTD PMID:31306034 NCBI chrNW_004955410:20,428,531...20,459,482
Ensembl chrNW_004955410:20,428,546...20,456,836 		JBrowse link
G Apoc3 apolipoprotein C3 ISO RGD PMID:11959336 RGD:1578441 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (human) RGD PMID:16306328 RGD:2307103 NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:14640889 NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:26563389 NCBI chrNW_004955411:15,052,151...15,077,320
Ensembl chrNW_004955411:15,052,163...15,077,320 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chrNW_004955474:6,403,409...6,422,135 JBrowse link
G Dusp1 dual specificity phosphatase 1 resistance ISO RGD PMID:16814733 RGD:2298673 NCBI chrNW_004955408:25,481,294...25,484,381
Ensembl chrNW_004955408:25,481,294...25,484,381 		JBrowse link
G Ech1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chrNW_004955468:686,171...692,737 JBrowse link
G Frk fyn related Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17179392 NCBI chrNW_004955526:736,446...892,331
Ensembl chrNW_004955526:736,116...895,170 		JBrowse link
G Gipr gastric inhibitory polypeptide receptor ISO RGD PMID:10611300 RGD:737713 NCBI chrNW_004955574:140,307...153,684
Ensembl chrNW_004955574:140,307...156,899 		JBrowse link
G Glp1r glucagon like peptide 1 receptor susceptibility ISO RGD PMID:8898756 RGD:1624349 NCBI chrNW_004955437:4,394,088...4,418,172
Ensembl chrNW_004955437:4,395,039...4,418,186 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26042203 NCBI chrNW_004955495:6,767,969...6,772,256
Ensembl chrNW_004955495:6,767,975...6,772,178 		JBrowse link
G Hnf1a HNF1 homeobox A susceptibility ISO DNA:polymorphism: :p.A98V RGD PMID:15277395 RGD:1601481 NCBI chrNW_004955455:10,694,102...10,717,613
Ensembl chrNW_004955455:10,694,102...10,717,613 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 disease_progression ISO associated with Cystic Fibrosis; RGD PMID:11591125 RGD:12910474 NCBI chrNW_004955403:3,062,724...3,073,419
Ensembl chrNW_004955403:3,063,133...3,073,419 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO CTD Direct Evidence: therapeutic CTD PMID:31095431 NCBI chrNW_004955536:611,965...658,647
Ensembl chrNW_004955536:612,774...658,647 		JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: therapeutic CTD PMID:20376352 NCBI chrNW_004955444:2,365,077...2,400,953 JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21779873 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:10949030 RGD:1302523 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149 		JBrowse link
G Jak2 Janus kinase 2 treatment ISO associated with Alzheimer Disease RGD PMID:23223021 RGD:10403052 NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208 		JBrowse link
G Lamtor5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 ISO CTD Direct Evidence: therapeutic CTD PMID:29259128 NCBI chrNW_004955435:13,896,320...13,900,742
Ensembl chrNW_004955435:13,896,320...13,900,754 		JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:21315688 PMID:22948215 PMID:24150608 PMID:29650965 RGD:12904911 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472 		JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19452630 PMID:25367288 PMID:26537785 PMID:27465994 PMID:28611668 More... RGD:12911216 RGD:12911217 NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407 		JBrowse link
G LOC102009223 cytochrome P450 1B1 ISO CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131 		JBrowse link
G Metrnl meteorin like, glial cell differentiation regulator ISO CTD Direct Evidence: therapeutic CTD PMID:30213948 NCBI chrNW_004955506:133,337...146,472
Ensembl chrNW_004955506:133,337...165,317 		JBrowse link
G Neil1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chrNW_004955450:2,883,344...2,889,593
Ensembl chrNW_004955450:2,883,560...2,887,736 		JBrowse link
G Neurod1 neuronal differentiation 1 susceptibility ISO DNA:polymorphism: :p.A45T (human) RGD PMID:15277395 RGD:1601481 NCBI chrNW_004955403:15,595,888...15,600,040
Ensembl chrNW_004955403:15,595,888...15,600,040 		JBrowse link
G Neurog3 neurogenin 3 susceptibility ISO DNA:polymorphism:cds:p.S199F RGD PMID:15277395 RGD:1601481 NCBI chrNW_004955437:21,577,896...21,578,546 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:33933676 NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944 		JBrowse link
G Nono non-POU domain containing octamer binding ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358041 NCBI chrNW_004955475:10,833,514...10,853,460
Ensembl chrNW_004955475:10,833,189...10,853,519 		JBrowse link
G Nr5a2 nuclear receptor subfamily 5 group A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29515023 NCBI chrNW_004955406:36,263,257...36,415,494
Ensembl chrNW_004955406:36,263,184...36,415,525 		JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO CTD Direct Evidence: therapeutic CTD PMID:33812996 NCBI chrNW_004955436:825,387...850,558
Ensembl chrNW_004955436:825,387...850,558 		JBrowse link
G Pax6 paired box 6 ISO associated with Aniridia;DNA:nonsense mutation:cds:p.R240X (human) RGD PMID:19034419 RGD:2308929 NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		JBrowse link
G 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 chrNW_004955418:16,181,809...16,224,274
Ensembl chrNW_004955418:16,181,771...16,224,603 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: therapeutic CTD PMID:33567340 NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820 		JBrowse link
G Plac8 placenta associated 8 ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chrNW_004955474:6,518,459...6,533,251
Ensembl chrNW_004955474:6,522,204...6,534,312 		JBrowse link
G Plekhs1 pleckstrin homology domain containing S1 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chrNW_004955431:18,745,990...18,798,517
Ensembl chrNW_004955431:18,745,791...18,770,112 		JBrowse link
G Pon1 paraoxonase 1 ISO DNA:SNP:CDS:amino acid L55M, LL genotype RGD PMID:11889198 RGD:1642628 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA:decreased expression:quadriceps muscle (mouse) RGD PMID:19158402 RGD:7242049 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435 		JBrowse link
G Prdx3 peroxiredoxin 3 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chrNW_004955431:23,640,775...23,651,738
Ensembl chrNW_004955431:23,638,765...23,652,191 		JBrowse link
G Prdx4 peroxiredoxin 4 ISO CTD Direct Evidence: therapeutic CTD PMID:20446767 NCBI chrNW_004955509:4,111,501...4,132,529
Ensembl chrNW_004955509:4,116,379...4,132,529 		JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19934007 NCBI chrNW_004955426:25,079,718...25,102,090
Ensembl chrNW_004955426:25,079,718...25,102,090 		JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:12511592 PMID:19934007 RGD:1302556 NCBI chrNW_004955464:2,996,608...3,062,197
Ensembl chrNW_004955464:3,003,837...3,062,197 		JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27381457 NCBI chrNW_004955500:6,655,056...6,674,311
Ensembl chrNW_004955500:6,655,056...6,674,311 		JBrowse link
G Rarres2 retinoic acid receptor responder 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22355640 NCBI chrNW_004955491:4,954,809...4,957,724
Ensembl chrNW_004955491:4,955,068...4,956,956 		JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:21321189 NCBI chrNW_004955425:20,280,725...20,307,663
Ensembl chrNW_004955425:20,279,963...20,307,663 		JBrowse link
G Slc12a2 solute carrier family 12 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22872759 NCBI chrNW_004955415:1,138,297...1,219,241
Ensembl chrNW_004955415:1,137,327...1,219,241 		JBrowse link
G Slc27a1 solute carrier family 27 member 1 ISO protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle RGD PMID:15281014 RGD:1642794 NCBI chrNW_004955524:803,793...821,920
Ensembl chrNW_004955524:805,014...821,838 		JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: therapeutic CTD PMID:33933676 NCBI chrNW_004955408:757,426...764,989
Ensembl chrNW_004955408:757,426...771,615 		JBrowse link
G Tlr4 toll like receptor 4 ISO CTD Direct Evidence: therapeutic CTD PMID:33254826 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein treatment ISO RGD PMID:29976929 RGD:150519890 NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610 		JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27325692 NCBI chrNW_004955455:3,037,885...3,041,827 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14315
    Nutritional and Metabolic Diseases 6966
      disease of metabolism 6966
        inherited metabolic disorder 5511
          carbohydrate metabolic disorder 2659
            glucose metabolism disease 1472
              hyperglycemia 120
                Childhood-Onset Spasticity with Hyperglycinemia 1
                glucose intolerance 53
Path 2
Term Annotations click to browse term
  disease 14315
    Developmental Disease 12567
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11796
        genetic disease 11521
          inherited metabolic disorder 5511
            carbohydrate metabolic disorder 2659
              glucose metabolism disease 1472
                hyperglycemia 120
                  Childhood-Onset Spasticity with Hyperglycinemia 1
                  glucose intolerance 53
paths to the root