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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;   RDO:0005838
 xref: ICD10CM:R73.9;   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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Adrb1 adrenoceptor beta 1 IEP associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart RGD PMID:21831645 RGD:6893641 NCBI chr 1:255,772,217...255,773,617
Ensembl chr 1:255,771,597...255,807,259
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Epas1 endothelial PAS domain protein 1 IEP RGD PMID:17914354 RGD:10395377 NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G F2 coagulation factor II 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
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 chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
G 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
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:3019152 PMID:18669601 NCBI chr 3:47,113,914...47,122,929
Ensembl chr 3:47,113,914...47,122,929
JBrowse link
G 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
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 chr10:80,968,410...80,976,506
Ensembl chr10:80,968,352...80,976,503
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 IDA associated with Diabetes Mellitus, Experimental RGD PMID:16478977 RGD:1625789 NCBI chr 1:201,581,480...201,601,580
Ensembl chr 1:201,581,480...201,601,582
JBrowse link
G Hcrt hypocretin neuropeptide precursor treatment IEP associated with Obesity RGD PMID:12217430 RGD:1358430 NCBI chr10:85,689,992...85,691,206
Ensembl chr10:85,689,465...85,691,210
JBrowse link
G Hcrtr2 hypocretin receptor 2 treatment IEP associated with Obesity RGD PMID:12217430 RGD:1358430 NCBI chr 8:76,989,834...77,105,893
Ensembl chr 8:76,989,834...77,105,893
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
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 chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il6 interleukin 6 ISO fasting glucose associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human)
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (human)
CTD Direct Evidence: marker/mechanism
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 1:182,659,047...182,709,495
Ensembl chr 1:182,659,000...182,709,503
JBrowse link
G Itgav integrin subunit alpha V ISO mRNA:increased expression:blood vessel endothelial cell RGD PMID:11848444 RGD:1627644 NCBI chr 3:68,838,524...68,926,653
Ensembl chr 3:68,838,189...68,926,639
JBrowse link
G 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
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19716478 PMID:21561152 PMID:31313498 PMID:31483951 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lepr leptin receptor IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:3519326 PMID:15093691 PMID:17065336 PMID:19682441 PMID:20567778 More... RGD:12911216 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Neurod1 neuronal differentiation 1 ISO DNA:mutations:promoter, exon:-1972G>A, p.A322N (human) RGD PMID:18811724 RGD:2313477 NCBI chr 3:64,360,222...64,363,526
Ensembl chr 3:64,359,395...64,363,649
JBrowse link
G Neurog3 neurogenin 3 ISO associated with Diabetes Mellitus, Experimental
ClinVar Annotator: match by term: Hyperglycemia
ClinVar
RGD
PMID:16855267 PMID:21378176 PMID:21490072 PMID:27533310 PMID:28940958 More... RGD:1642077 NCBI chr20:30,079,780...30,081,262
Ensembl chr20:30,079,780...30,081,262
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20086057 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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, Insulin-Dependent; (human)
mRNA:decreased expression:pancreatic islet (rat)
associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:stem cell (mouse)
associated with Diabetes Mellitus, Experimental; (mouse)
RGD PMID:10512364 PMID:17131142 PMID:12438314 PMID:19245309 PMID:16983179 RGD:2311207, RGD:2308899, RGD:1600277, RGD:2311204, RGD:2311206 NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
JBrowse link
G 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
JBrowse link
G Pla2g4a phospholipase A2 group IVA 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
JBrowse link
G 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
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment ISO
IDA
IEP
associated with Obesity
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart left ventricle, myocardium (rat)
RGD PMID:23499865 PMID:22922125 PMID:19367030 RGD:7241854, RGD:7242061, RGD:10059674 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14514642 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
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 chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
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 ClinVar
OMIM
PMID:24334290 NCBI chr 6:123,988,169...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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 IEP RGD PMID:23797890 RGD:25330096 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (human) RGD PMID:16306328 RGD:2307103 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Dusp1 dual specificity phosphatase 1 resistance ISO RGD PMID:16814733 RGD:2298673 NCBI chr10:16,680,489...16,683,276 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
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 chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Lep leptin IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21315688 PMID:24150608 PMID:22948215 RGD:12904911 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:22948215 RGD:12904911
G Lepr leptin receptor IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19452630 PMID:25367288 PMID:28611668 PMID:29988851 PMID:27465994 More... RGD:12911217, RGD:12911216 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin IMP RGD PMID:27465994 RGD:12911217
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh IMP RGD PMID:26537785 RGD:12911216
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
Ensembl chr MT:7,919...8,599
JBrowse link
G 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
JBrowse link
G Neurod1 neuronal differentiation 1 susceptibility ISO DNA:polymorphism: :p.A45T (human) RGD PMID:15277395 RGD:1601481 NCBI chr 3:64,360,222...64,363,526
Ensembl chr 3:64,359,395...64,363,649
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
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 chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: therapeutic CTD PMID:33567340 NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:21321189 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Wfs1em1Ptsn wolframin ER transmembrane glycoprotein; ZFN induced mutant 1 treatment IMP RGD PMID:29976929 RGD:150519890
G 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    Nutritional and Metabolic Diseases 6748
      disease of metabolism 6748
        inherited metabolic disorder 4660
          carbohydrate metabolic disorder 2561
            glucose metabolism disease 1874
              hyperglycemia 200
                Childhood-Onset Spasticity with Hyperglycinemia 1
                glucose intolerance 78
Path 2
Term Annotations click to browse term
  disease 18110
    Developmental Disease 12861
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11545
        genetic disease 11079
          inherited metabolic disorder 4660
            carbohydrate metabolic disorder 2561
              glucose metabolism disease 1874
                hyperglycemia 200
                  Childhood-Onset Spasticity with Hyperglycinemia 1
                  glucose intolerance 78
paths to the root