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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:Insulin Resistance
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Accession:DOID:9007692 term browser browse the term
Definition:Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.
Synonyms:exact_synonym: Insulin Sensitivity
 narrow_synonym: Insulin Resistance Syndrome, Type A
 related_synonym: FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF;   Insulin Resistance, Susceptibility To;   Serum hdl cholesterol level, modifier of
 primary_id: MESH:D007333;   RDO:0003504
 xref: EFO:0002614



show annotations for term's descendants           Sort by:
Insulin Resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACACA acetyl-CoA carboxylase alpha treatment ISO RGD PMID:16485039 PMID:26394137 RGD:1625727, RGD:329955565 NCBI chr17:37,084,992...37,406,836
Ensembl chr17:37,084,992...37,406,836
JBrowse link
G ACACB acetyl-CoA carboxylase beta treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22658938 PMID:16485039 PMID:26394137 RGD:1625727, RGD:329955565 NCBI chr12:109,111,189...109,268,226
Ensembl chr12:109,116,587...109,268,226
JBrowse link
G ACE angiotensin I converting enzyme IEA GAD PMID:15118671 RGD:1331525 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACP1 acid phosphatase 1 ISO associated with Obesity RGD PMID:17353188 RGD:2313180 NCBI chr 2:264,947...278,283
Ensembl chr 2:264,140...278,283
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 IEP mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:16788709 RGD:1625735 NCBI chr 4:184,755,595...184,826,594
Ensembl chr 4:184,755,595...184,826,818
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing treatment ISO
EXP
CTD Direct Evidence: therapeutic
associated with Hypertension
CTD
RGD
PMID:18931039 PMID:21484566 PMID:16041833 PMID:23089228 PMID:21872431 RGD:1599150, RGD:8695951, RGD:8695928 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADIPOR1 adiponectin receptor 1 resistance IAGP associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C RGD PMID:17285539 RGD:1625762 NCBI chr 1:202,940,825...202,958,572
Ensembl chr 1:202,940,826...202,958,572
JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment ISO RGD PMID:30225267 PMID:24797033 RGD:21406435, RGD:25824940 NCBI chr12:1,691,070...1,788,674
Ensembl chr12:1,688,574...1,788,674
JBrowse link
G ADM adrenomedullin EXP CTD Direct Evidence: therapeutic CTD PMID:33491863 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
JBrowse link
G ADORA1 adenosine A1 receptor treatment IMP
ISO
associated with Obesity RGD PMID:11703426 PMID:15220221 RGD:2313807, RGD:1625243 NCBI chr 1:203,127,726...203,167,405
Ensembl chr 1:203,090,654...203,167,405
JBrowse link
G ADRA1B adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480 PMID:14581480 RGD:1625772, RGD:1625772 NCBI chr 5:159,865,086...159,989,205
Ensembl chr 5:159,865,080...159,973,012
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO
EXP
IAGP
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :p.R16G
CTD
RGD
PMID:19034036 PMID:11510954 PMID:15699455 RGD:1598757, RGD:1601125 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G ADRB3 adrenoceptor beta 3 no_association IAGP DNA:missense mutation:cds:p.W64R rs4994 (human)
associated with Obesity;DNA:polymorphism: :p.W64R (human)
RGD PMID:10421225 PMID:10582543 PMID:17299491 RGD:1559326, RGD:5684421, RGD:2313158 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO protein:increased expression:dorsal root ganglion, neuron RGD PMID:22357959 RGD:6903873 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G AHR aryl hydrocarbon receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:25734695 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
JBrowse link
G AHSG alpha 2-HS glycoprotein susceptibility IEP
ISO
protein:increased expression:plasma RGD PMID:17011519 PMID:16567827 PMID:17011519 RGD:1625793, RGD:1625794, RGD:1625793 NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318
JBrowse link
G AKT2 AKT serine/threonine kinase 2 no_association IAGP DNA:SNPs RGD PMID:17327441 RGD:1601155 NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member treatment ISO protein:altered expression, altered activity:liver (rat) RGD PMID:28688179 RGD:14981582 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:19787041 RGD:5509625 NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294
JBrowse link
G ANKRD26 ankyrin repeat domain containing 26 ISO RGD PMID:18162531 RGD:9681744 NCBI chr10:26,947,582...27,100,494
Ensembl chr10:26,973,793...27,100,494
JBrowse link
G APLN apelin ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chr  X:129,645,259...129,654,956
Ensembl chr  X:129,645,259...129,654,956
JBrowse link
G APOA2 apolipoprotein A2 ISO RGD PMID:11246886 RGD:2313957 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,290...161,223,631
JBrowse link
G APOC1 apolipoprotein C1 IMP associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11723061 RGD:2313951 NCBI chr19:44,914,325...44,919,346
Ensembl chr19:44,914,247...44,919,349
JBrowse link
G APOC3 apolipoprotein C3 susceptibility
treatment
ISO RGD PMID:15734841 PMID:15007394 RGD:1601226, RGD:1580750 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
JBrowse link
G AR androgen receptor IDA
EXP
IAGP
CTD Direct Evidence: marker/mechanism
associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG
CTD
RGD
PMID:21444647 PMID:17332526 PMID:16793958 RGD:1601244, RGD:2306773 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619
JBrowse link
G ARG1 arginase 1 ISO protein:decreased activity:liver (rat) RGD PMID:20593143 RGD:4142796 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G AS3MT arsenite methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:35226250 NCBI chr10:102,869,470...102,901,899
Ensembl chr10:102,869,470...102,901,899
JBrowse link
G ATM ATM serine/threonine kinase treatment ISO
IAGP
protein:decreased expression:muscle:
Associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNP:intron: (rs11212617) (human)
RGD PMID:18534819 PMID:23171036 RGD:8693659, RGD:126781688 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IDA mRNA:increased expression:skeletal muscle RGD PMID:14576983 RGD:1601252 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G BAD BCL2 associated agonist of cell death ISO protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart RGD PMID:21385329 RGD:10053645 NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
JBrowse link
G BCHE butyrylcholinesterase IEP RGD PMID:17917325 RGD:2306776 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G BDKRB1 bradykinin receptor B1 ISO RGD PMID:17618300 PMID:17988733 RGD:5129217, RGD:5129214 NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO RGD PMID:25934999 RGD:11085488 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
JBrowse link
G C1R complement C1r IEP protein:increased expression:adipocyte RGD PMID:17244723 RGD:1600551 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G C3 complement C3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18615583 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CAPN10 calpain 10 IAGP DNA:SNP:intron:rs3792267 (human) RGD PMID:11018080 RGD:7247736 NCBI chr 2:240,586,734...240,599,104
Ensembl chr 2:240,586,734...240,617,705
JBrowse link
G CASP1 caspase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22325453 NCBI chr11:105,025,443...105,036,686
Ensembl chr11:105,025,397...105,035,250
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:29748970 RGD:13782289 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
JBrowse link
G CASP8 caspase 8 ISO RGD PMID:29748970 RGD:13782289 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
JBrowse link
G CAT catalase IMP associated with Obesity RGD PMID:19188683 RGD:5130761 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CBLB Cbl proto-oncogene B ISO RGD PMID:17601987 RGD:2314038 NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552
JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility IAGP
EXP
ISO
associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:29035695 PMID:18762729 PMID:22983634 RGD:2306985, RGD:8548844 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CD163 CD163 molecule exacerbates EXP
IEP
CTD Direct Evidence: marker/mechanism
associated with hepatitis C, human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human)
CTD
RGD
PMID:29035695 PMID:26554542 RGD:149735574 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO
EXP
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Type 2
CTD
RGD
PMID:14640889 PMID:11175782 PMID:25477422 PMID:12923231 PMID:15231693 RGD:68930, RGD:11041132, RGD:11040926, RGD:2307217 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CD40 CD40 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CD68 CD68 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
JBrowse link
G CERS1 ceramide synthase 1 ameliorates ISO RGD PMID:30605666 RGD:156431060 NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727
JBrowse link
G CNR1 cannabinoid receptor 1 ISO associated with Obesity RGD PMID:19553924 RGD:2314662 NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347
JBrowse link
G CNTF ciliary neurotrophic factor TAS possible therapeutic agent RGD PMID:16675997 RGD:1626122 NCBI chr11:58,622,665...58,625,733
Ensembl chr11:58,622,665...58,625,733
JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914
JBrowse link
G CPB2 carboxypeptidase B2 IEP associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma RGD PMID:11836301 RGD:2313645 NCBI chr13:46,053,186...46,105,033
Ensembl chr13:46,053,186...46,105,033
JBrowse link
G CPE carboxypeptidase E EXP CTD Direct Evidence: marker/mechanism CTD PMID:15358678 NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547
JBrowse link
G CST3 cystatin C IEP associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) RGD PMID:19765773 RGD:2314305 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
JBrowse link
G CTF1 cardiotrophin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr16:30,895,846...30,903,560
Ensembl chr16:30,896,614...30,903,547
JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP DNA:SNP:CDS: rs12794714|rs10766197 (human) RGD PMID:34906413 RGD:401900724 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
JBrowse link
G DGAT2 diacylglycerol O-acyltransferase 2 treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr11:75,768,778...75,801,534
Ensembl chr11:75,759,512...75,801,535
JBrowse link
G DIO2 iodothyronine deiodinase 2 IAGP DNA:SNP: :rs225014, p.T92A (human) RGD PMID:11872697 RGD:2313698 NCBI chr14:80,197,526...80,231,057
Ensembl chr14:80,197,526...80,387,757
JBrowse link
G DRD1 dopamine receptor D1 ISO associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule RGD PMID:15798088 RGD:2302119 NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
JBrowse link
G ECH1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chr19:38,815,422...38,831,794
Ensembl chr19:38,815,422...38,831,841
JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22238402 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP DNA:polymorphism:K121Q
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
ClinVar
RGD
PMID:10480624 PMID:11739459 PMID:14671192 PMID:14988267 PMID:15001634 More... RGD:1601043 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G F7 coagulation factor VII severity IEP associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:9187410 RGD:2312406 NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
JBrowse link
G FABP2 fatty acid binding protein 2 no_association IAGP DNA:polymorphism:CDS:amino acid A54T, in healthy, moderately overweight subjects in Baton Rouge
ClinVar Annotator: match by term: FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF
DNA:SNP:CDS:p.A54T (human)
DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups
DNA:polymorphism:CDS:p.A54T (human)
ClinVar
RGD
PMID:7883976 PMID:9253345 PMID:10946885 PMID:10999802 PMID:12161503 More... RGD:1578456, RGD:1300314, RGD:1626407, RGD:1626400 NCBI chr 4:119,317,250...119,322,138
Ensembl chr 4:119,317,250...119,322,138
JBrowse link
G FABP3 fatty acid binding protein 3 severity ISO RGD PMID:16249436 RGD:1578459 NCBI chr 1:31,359,588...31,373,076
Ensembl chr 1:31,365,253...31,376,850
JBrowse link
G FABP4 fatty acid binding protein 4 ISO RGD PMID:17391165 RGD:1625407 NCBI chr 8:81,478,419...81,483,233
Ensembl chr 8:81,478,419...81,483,236
JBrowse link
G FANCA FA complementation group A ISO RGD PMID:22482891 RGD:11046266 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FANCC FA complementation group C ISO RGD PMID:22482891 RGD:11046266 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G FAS Fas cell surface death receptor treatment ISO associated with hypothalamic disease RGD PMID:29522769 RGD:13792596 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASN fatty acid synthase treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr17:82,078,338...82,098,236
Ensembl chr17:82,078,338...82,098,294
JBrowse link
G FGF19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr11:69,698,238...69,704,022
Ensembl chr11:69,698,238...69,704,022
JBrowse link
G FIS1 fission, mitochondrial 1 ISO protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr 7:101,239,472...101,245,081
Ensembl chr 7:101,239,458...101,252,316
JBrowse link
G FOXC2 forkhead box C2 IAGP DNA:polymorphism:5'ut:-512C>T RGD PMID:12453913 RGD:1601219 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728
JBrowse link
G FOXO1 forkhead box O1 ISO mRNA:increased expression:adipose tissue: RGD PMID:16041833 RGD:1599150 NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP
ISO
associated with diabetes mellitus;DNA:SNP: :rs9939609 (human)
mRNA, protein:increased expression:liver
DNA:SNPs, haplotype: :rs1121980, rs1558902, rs9939609 (human)
associated with obesity;DNA:SNP:intron:rs17817449 (human)
RGD PMID:30273662 PMID:35945320 PMID:20075932 PMID:21919686 RGD:329812018, RGD:329951016, RGD:329853775, RGD:329812040 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
JBrowse link
G FXN frataxin IAGP DNA:repeats:intron:GAA (human) RGD PMID:10969848 RGD:2307049 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO associated with Obesity;protein:increased expression:pancreas RGD PMID:23015612 RGD:10449129 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572
JBrowse link
G GCK glucokinase ISO protein:increased expression:pancreatic islet RGD PMID:19039094 RGD:7488970 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 IDA RGD PMID:11118009 RGD:1625423 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250
JBrowse link
G GH1 growth hormone 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21559284 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
JBrowse link
G GNAS GNAS complex locus EXP CTD Direct Evidence: marker/mechanism CTD PMID:17062894 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GNB3 G protein subunit beta 3 IAGP DNA:polymorphism: :825C>T (human) RGD PMID:12624279 RGD:1580411 NCBI chr12:6,840,925...6,847,393
Ensembl chr12:6,839,954...6,847,393
JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr10:112,149,865...112,227,677
Ensembl chr10:112,149,865...112,215,377
JBrowse link
G GPR17 G protein-coupled receptor 17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34144038 NCBI chr 2:127,646,153...127,652,639
Ensembl chr 2:127,645,864...127,652,639
JBrowse link
G GPX3 glutathione peroxidase 3 EXP
ISO
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
CTD
RGD
PMID:19270708 PMID:24361363 RGD:401827920 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO RGD PMID:15994203 RGD:1625791 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556
JBrowse link
G GSTA4 glutathione S-transferase alpha 4 IEP mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human) RGD PMID:20150287 RGD:5687771 NCBI chr 6:52,977,953...52,995,284
Ensembl chr 6:52,977,948...52,995,304
JBrowse link
G GYS1 glycogen synthase 1 susceptibility IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human) RGD PMID:9267990 RGD:2313176 NCBI chr19:48,968,130...48,993,309
Ensembl chr19:48,968,130...48,993,310
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:17350134 RGD:1601515 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G HMGA1 high mobility group AT-hook 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr 6:34,236,873...34,246,231
Ensembl chr 6:34,236,873...34,246,231
JBrowse link
G HMOX1 heme oxygenase 1 IEP
EXP
mRNA:decreased expression:muscle:defective protection against oxidative stress
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:18375438 PMID:19171794 PMID:12941774 RGD:1601621 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G HNF1A HNF1 homeobox A IEP
IAGP
mRNA:decreased expression:adipocyte
ClinVar Annotator: match by term: SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF
ClinVar
RGD
PMID:8945470 PMID:9112026 PMID:9287053 PMID:9604876 PMID:10333057 More... RGD:1601482 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21786805 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:18948349 RGD:10402862 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A IMP associated with Peripheral Vascular Diseases RGD PMID:17062970 RGD:1624367 NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP associated with Obesity;protein:increased secretion:plasma (human)
protein:increased expression:serum
RGD PMID:11782876 PMID:19394054 RGD:1625753, RGD:2313467 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35226250 NCBI chr 3:185,643,130...185,825,042
Ensembl chr 3:185,643,130...185,825,042
JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:17726072 NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971
JBrowse link
G IGFBP2 insulin like growth factor binding protein 2 IMP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22537059 PMID:17259371 RGD:1626479 NCBI chr 2:216,632,828...216,664,436
Ensembl chr 2:216,632,828...216,664,436
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IDA RGD PMID:17237715 RGD:2313762 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 IDA human transgene overexpressed in mouse brain RGD PMID:15889232 RGD:2301717 NCBI chr12:53,097,667...53,102,340
Ensembl chr12:53,097,436...53,102,345
JBrowse link
G IGFBP7 insulin like growth factor binding protein 7 IEP
ISO
protein:increased expression:serum
associated with metabolic dysfunction-associated steatotic liver disease
RGD PMID:16873698 PMID:31397492 RGD:1626516, RGD:401960873 NCBI chr 4:57,030,773...57,110,385
Ensembl chr 4:57,030,773...57,110,385
JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29036520 PMID:19073766 RGD:7495768 NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460
JBrowse link
G IL18 interleukin 18 treatment IEP
ISO
associated with Graves Disease RGD PMID:23257837 PMID:16732281 RGD:8655938, RGD:14695532 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
JBrowse link
G IL1B interleukin 1 beta treatment ISO associated with Obesity;mRNA:increased expression:adipose tissue
associated with hypothalamic disease
RGD PMID:16865359 PMID:29522769 RGD:1626632, RGD:13792596 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL6 interleukin 6 ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat)
mRNA:increased expression:islet of Langerhans
RGD PMID:19328014 PMID:21826222 RGD:2307252, RGD:10402828 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IL6R interleukin 6 receptor IEP protein:decreased expression:serum RGD PMID:14962155 RGD:1625431 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
JBrowse link
G IL7 interleukin 7 EXP CTD Direct Evidence: therapeutic CTD PMID:20376352 NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO associated with Metabolic Syndrome X RGD PMID:17327370 PMID:12453826 RGD:2312440, RGD:2312442 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
JBrowse link
G INS insulin IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11522680 PMID:24648896 PMID:25796170 PMID:33651899 PMID:3322910 RGD:2311112 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G INS-IGF2 INS-IGF2 readthrough ISO CTD Direct Evidence: marker/mechanism CTD PMID:19586609 NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209
JBrowse link
G INSR insulin receptor disease_progression
treatment
ISO
IAGP
EXP
ClinVar Annotator: match by term: Insulin-resistance syndrome type A
ClinVar Annotator: match by term: Insulin resistance | ClinVar Annotator: match by term: Insulin-resistance syndrome type A
mRNA, protein:decreased expression:liver (rat)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1314826 PMID:1644241 PMID:1890161 PMID:1963473 PMID:1971035 More... RGD:1302523, RGD:11529553, RGD:10403037 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G IRS1 insulin receptor substrate 1 IAGP
EXP
DNA:polymorphism:exon:G972R
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD
ClinVar
RGD
PMID:1311924 PMID:7623569 PMID:8104271 PMID:8647950 PMID:10084586 More... RGD:1624973 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
JBrowse link
G IRS2 insulin receptor substrate 2 IAGP
EXP
DNA:polymorphism:exon:G1057D
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25808216 PMID:15811564 RGD:1625025 NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583
JBrowse link
G ITGAM integrin subunit alpha M EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9032110 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331
JBrowse link
G KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 ISO mRNA, protein:decreased expression:aorta, mesenteric artery RGD PMID:21425425 RGD:10412047 NCBI chr 5:170,374,671...170,389,367
Ensembl chr 5:170,374,671...170,389,634
JBrowse link
G KLF11 KLF transcription factor 11 IAGP RGD PMID:18505768 RGD:2311539 NCBI chr 2:10,043,550...10,054,836
Ensembl chr 2:10,042,849...10,054,836
JBrowse link
G KLF14 KLF transcription factor 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29632379 NCBI chr 7:130,730,697...130,734,207
Ensembl chr 7:130,730,697...130,734,207
JBrowse link
G KLK1 kallikrein 1 IDA RGD PMID:17272402 RGD:1641794 NCBI chr19:50,819,146...50,823,787
Ensembl chr19:50,819,146...50,823,787
JBrowse link
G LEP leptin ISO
EXP
IEP
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:nonsense mutation:cds:
associated with Obesity
CTD
RGD
PMID:10753628 PMID:11342529 PMID:24150608 PMID:29650965 PMID:19296906 More... RGD:5128697, RGD:8549777, RGD:2311127 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LEPR leptin receptor IAGP
EXP
ISO
associated with Obesity;DNA:missense mutation:CDS:p.K656N (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:CDS:p.K656N (human)
CTD
RGD
PMID:19452630 PMID:20567778 PMID:25367288 PMID:28611668 PMID:29988851 More... RGD:2311142, RGD:13432147, RGD:2311138 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LIPC lipase C, hepatic type EXP CTD Direct Evidence: marker/mechanism CTD PMID:15504970 NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Insulin-resistance syndrome type A ClinVar PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LOC129391047 MPRA-validated peak3314 silencer IAGP ClinVar Annotator: match by term: Insulin-resistance syndrome type A ClinVar PMID:25741868 NCBI chr19:7,113,365...7,113,565 JBrowse link
G LPIN1 lipin 1 IEP RGD PMID:17563064 RGD:1641822 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409
JBrowse link
G LPL lipoprotein lipase ISO RGD PMID:18952837 RGD:2313300 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G LTA lymphotoxin alpha no_association IAGP DNA:polymorphism RGD PMID:9245742 RGD:1625035 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO associated with polycystic ovary syndrome RGD PMID:23349861 RGD:13800789 NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G MC4R melanocortin 4 receptor EXP
ISO
CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:liver (rat)
DNA:nonsense mutation:cds:p.K314X (rat)
CTD
RGD
PMID:18454146 PMID:35945320 PMID:24400148 RGD:329951016, RGD:13825242 NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775
JBrowse link
G METRNL meteorin like, glial cell differentiation regulator EXP CTD Direct Evidence: therapeutic CTD PMID:30213948 NCBI chr17:83,079,609...83,095,122
Ensembl chr17:83,079,609...83,095,122
JBrowse link
G METTL14 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:35226250 NCBI chr 4:118,685,392...118,715,430
Ensembl chr 4:118,685,392...118,715,433
JBrowse link
G MFN2 mitofusin 2 treatment ISO RGD PMID:24715199 RGD:13204838 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MIF macrophage migration inhibitory factor IEP protein:increased expression:plasma RGD PMID:12552367 RGD:1641955 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G MIR125A microRNA 125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
JBrowse link
G MIR155 microRNA 155 IEP
ISO
miRNA:increased expression:serum RGD PMID:29479888 PMID:27711113 RGD:24922220, RGD:25671464 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MIR222 microRNA 222 IEP associated with polycystic ovary syndrome; RNA:increased expression:blood RGD PMID:33230470 RGD:151893462 NCBI chr  X:45,747,015...45,747,124
Ensembl chr  X:45,747,015...45,747,124
JBrowse link
G MLXIPL MLX interacting protein like treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
JBrowse link
G MLYCD malonyl-CoA decarboxylase treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445
JBrowse link
G MRC1 mannose receptor C-type 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr10:17,809,348...17,911,164
Ensembl chr10:17,809,348...17,911,164
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase IEP associated with Polycystic Ovary Syndrome;protein:increased expression:serum RGD PMID:17582143 RGD:1642341 NCBI chr 7:106,248,298...106,285,888
Ensembl chr 7:106,248,298...106,285,966
JBrowse link
G NEIL1 nei like DNA glycosylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr15:75,347,039...75,357,115
Ensembl chr15:75,346,955...75,357,115
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 IEP
EXP
associated with obesity; protein:decreased expression:hepatocyte:
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:33933676 PMID:32102936 RGD:21201281 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35226250 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
JBrowse link
G NOS2 nitric oxide synthase 2 ISO mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat) RGD PMID:22023455 PMID:21846719 RGD:5509041, RGD:5509075 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO
EXP
protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:11457755 PMID:12716763 PMID:12947532 PMID:19008412 PMID:18298918 More... RGD:2292098, RGD:13450950 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NPPB natriuretic peptide B IEP associated with Obesity and Hypertension;protein:decreased expression:serum RGD PMID:17392814 RGD:1642192 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 susceptibility ISO RGD PMID:16557297 RGD:1625076 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
JBrowse link
G NR4A1 nuclear receptor subfamily 4 group A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chr12:52,022,832...52,059,503
Ensembl chr12:52,022,832...52,059,507
JBrowse link
G NR4A3 nuclear receptor subfamily 4 group A member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chr 9:99,821,885...99,866,891
Ensembl chr 9:99,821,855...99,866,891
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit EXP CTD Direct Evidence: therapeutic CTD PMID:33812996 NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727
JBrowse link
G PARL presenilin associated rhomboid like ISO mRNA:decreased expression:gastrocnemius (rat) RGD PMID:19859837 RGD:12880442 NCBI chr 3:183,826,489...183,884,880
Ensembl chr 3:183,829,271...183,884,933
JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:pancreatic islet (mouse)
protein:increased expression:pancreatic duct (rat)
RGD PMID:18288891 PMID:16046294 RGD:2311222, RGD:2311223 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IDA
EXP
ISO
associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:14714311 PMID:16332940 PMID:10426374 PMID:17283057 RGD:1625212, RGD:1625262, RGD:1625211 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
JBrowse link
G PKLR pyruvate kinase L/R treatment ISO mRNA, protein:decreased expression:liver RGD PMID:12958186 PMID:26394137 RGD:1625583, RGD:329955565 NCBI chr 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438
JBrowse link
G PLA2G1B phospholipase A2 group IB susceptibility ISO RGD PMID:12376327 RGD:1302550 NCBI chr12:120,322,115...120,327,779
Ensembl chr12:120,322,115...120,327,779
JBrowse link
G PLAC8 placenta associated 8 ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr 4:83,090,048...83,114,729
Ensembl chr 4:83,059,493...83,137,075
JBrowse link
G PLEKHS1 pleckstrin homology domain containing S1 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr10:113,751,682...113,783,429
Ensembl chr10:113,751,262...113,783,429
JBrowse link
G PLIN2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 9:19,108,388...19,127,492
Ensembl chr 9:19,108,375...19,149,290
JBrowse link
G PLTP phospholipid transfer protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr20:45,898,620...45,912,155
Ensembl chr20:45,898,621...45,912,155
JBrowse link
G PMCH pro-melanin concentrating hormone ISO RGD PMID:16002548 RGD:1642484 NCBI chr12:102,196,459...102,197,833
Ensembl chr12:102,196,459...102,197,833
JBrowse link
G PON1 paraoxonase 1 IAGP DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001) RGD PMID:11788650 RGD:1642617 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO
EXP
CTD Direct Evidence: therapeutic CTD
RGD
PMID:16168052 PMID:21324916 PMID:19322024 RGD:5683642 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
associated with Obesity
RGD PMID:19818749 PMID:14676330 RGD:2313780, RGD:2324897 NCBI chr 6:35,342,558...35,428,178
Ensembl chr 6:35,342,558...35,428,191
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP
EXP
DNA:nonsense mutation
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:16168052 PMID:21354099 PMID:21484566 PMID:12118251 RGD:1601446 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment IAGP
ISO
DNA:missense mutation:cds:p.G482S rs8192678 (human)
mRNA:decreased expression:liver (rat)
RGD PMID:23449621 PMID:26394137 PMID:22658649 RGD:7241821, RGD:329955565, RGD:7242170 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PPARGC1B PPARG coactivator 1 beta treatment IEP
ISO
RGD PMID:16896940 PMID:26394137 RGD:1642499, RGD:329955565 NCBI chr 5:149,730,310...149,857,959
Ensembl chr 5:149,730,298...149,855,022
JBrowse link
G PPP1R3A protein phosphatase 1 regulatory subunit 3A IAGP DNA:nonsense mutation
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
DNA:polymorphism:exon:p.D905Y (human)
ClinVar
RGD
PMID:7581368 PMID:25741868 PMID:12118251 PMID:7581368 RGD:1601446, RGD:1601468 NCBI chr 7:113,876,777...113,919,009
Ensembl chr 7:113,876,777...114,075,920
JBrowse link
G PRDX3 peroxiredoxin 3 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr10:119,167,720...119,178,812
Ensembl chr10:119,167,720...119,178,812
JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 ISO
EXP
associated with Obesity
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19934007 PMID:22231922 RGD:6484545 NCBI chr 5:40,759,389...40,798,374
Ensembl chr 5:40,759,389...40,798,374
JBrowse link
G PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 susceptibility IAGP
EXP
DNA:SNPs
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19934007 PMID:16567511 RGD:1625266 NCBI chr 1:56,645,314...56,715,335
Ensembl chr 1:56,645,314...56,715,335
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PRKCB protein kinase C beta ISO RGD PMID:12665248 RGD:1625515 NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611
JBrowse link
G PRKCD protein kinase C delta ISO protein:altered localization:nucleus
associated with Obesity;protein:increased activity:adipocyte
RGD PMID:12217885 PMID:15507533 RGD:729667, RGD:1642527 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PRKCQ protein kinase C theta ISO protein:altered localization:skeletal muscle
associated with Obesity;protein:decreased expression:skeletal muscle
RGD PMID:9000691 PMID:10923637 RGD:1625604, RGD:1625603 NCBI chr10:6,394,097...6,580,646
Ensembl chr10:6,427,143...6,580,301
JBrowse link
G PRKCZ protein kinase C zeta IDA protein::skeletal muscle:reduced response to insulin in obese and diabetic subjects RGD PMID:12882908 RGD:1642650 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
JBrowse link
G PRKD1 protein kinase D1 susceptibility IMP human gene in a mouse model RGD PMID:25173922 RGD:307436943 NCBI chr14:29,576,479...29,927,847
Ensembl chr14:29,576,479...30,191,898
JBrowse link
G PRL prolactin IEP associated with Hyperprolactinemia RGD PMID:3888755 RGD:1642560 NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826
JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP ClinVar Annotator: match by term: Insulin resistance ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852
JBrowse link
G PTEN phosphatase and tensin homolog ISO
IEP
EXP
protein:increased expression, decreased acetylation:liver
protein:increased activity:liver (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18303120 PMID:18385463 PMID:24367090 RGD:2292521, RGD:127285595 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTGDS prostaglandin D2 synthase susceptibility ISO RGD PMID:15970590 RGD:1642581 NCBI chr 9:136,977,504...136,981,742
Ensembl chr 9:136,975,092...136,981,742
JBrowse link
G PTGIS prostaglandin I2 synthase ISO protein:decreased activity:aorta (rat) RGD PMID:16528409 RGD:401960098 NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO associated with Obesity RGD PMID:16039993 RGD:1642605 NCBI chr 8:27,310,506...27,459,391
Ensembl chr 8:27,311,482...27,459,391
JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 IAGP
ISO
EXP
DNA:insertion:3'utr:1484insG
associated with congestive heart failure;protein:increased expression, increased activity:heart (rat)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD
ClinVar
RGD
PMID:10744717 PMID:11833006 PMID:11833006 PMID:29929988 RGD:1625240, RGD:401965403 NCBI chr20:50,510,383...50,585,241
Ensembl chr20:50,510,321...50,585,241
JBrowse link
G PTPRF protein tyrosine phosphatase receptor type F IEP
IDA
protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05)
protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced
RGD PMID:9218523 PMID:11309481 RGD:1642733, RGD:1642735 NCBI chr 1:43,522,051...43,623,666
Ensembl chr 1:43,525,187...43,623,666
JBrowse link
G PYY peptide YY IAGP protein:decreased expression RGD PMID:17045646 RGD:1625281 NCBI chr17:43,952,733...44,004,445
Ensembl chr17:43,952,733...44,004,469
JBrowse link
G RB1 RB transcriptional corepressor 1 IEP mRNA:decreased expression:adipose tissue RGD PMID:23315497 RGD:8547988 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RBP4 retinol binding protein 4 disease_progression
ameliorates
IEP
ISO
protein:decreased expression:blood serum (human) RGD PMID:29747616 PMID:21365528 RGD:329849113, RGD:329853304 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:altered localization:soleus RGD PMID:18198644 PMID:18073321 RGD:2298857, RGD:2298860 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
JBrowse link
G RETN resistin IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16493877 PMID:18789551 RGD:2313499 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
JBrowse link
G RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator IMP RGD PMID:16537411 RGD:2311703 NCBI chr16:66,921,685...66,925,535
Ensembl chr16:66,921,685...66,925,535
JBrowse link
G SCD stearoyl-CoA desaturase treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr10:100,347,233...100,364,826
Ensembl chr10:100,347,233...100,364,826
JBrowse link
G SELENOP selenoprotein P EXP CTD Direct Evidence: marker/mechanism CTD PMID:14714311 NCBI chr 5:42,799,880...42,811,892
Ensembl chr 5:42,799,880...42,887,392
JBrowse link
G SERPINA1 serpin family A member 1 IEP RGD PMID:16752182 RGD:1601202 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO mRNA:increased expression:white adipose tissue (rat) RGD PMID:19776253 PMID:26188590 RGD:8547949, RGD:11073726 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SERPINF1 serpin family F member 1 treatment IEP
IDA
ISO
associated with Hypertension
human protein in a rat model
RGD PMID:19073347 PMID:22714715 PMID:24288442 RGD:2312339, RGD:8655563, RGD:8642993 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G SHC1 SHC adaptor protein 1 IEP mRNA:increased expression:adipose tissue RGD PMID:17986714 RGD:1643171 NCBI chr 1:154,962,298...154,974,376
Ensembl chr 1:154,962,298...154,974,395
JBrowse link
G SI sucrase-isomaltase ISO associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine RGD PMID:9878708 RGD:1625544 NCBI chr 3:164,978,898...165,090,232
Ensembl chr 3:164,978,898...165,078,496
JBrowse link
G SIRT1 sirtuin 1 treatment ISO
EXP
associated with Obesity
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:20068143 PMID:21321189 PMID:24442997 PMID:25849131 PMID:26026874 More... RGD:9585759 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SIRT4 sirtuin 4 ISO RGD PMID:20651844 RGD:9586052 NCBI chr12:120,291,780...120,313,249
Ensembl chr12:120,302,316...120,313,249
JBrowse link
G SLC27A1 solute carrier family 27 member 1 ISO protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet RGD PMID:17400720 RGD:1642795 NCBI chr19:17,468,767...17,506,168
Ensembl chr19:17,468,769...17,506,168
JBrowse link
G SLC27A4 solute carrier family 27 member 4 IEP mRNA:increased expression:subcutaneous adipose tissue RGD PMID:15168018 RGD:1625638 NCBI chr 9:128,340,527...128,361,470
Ensembl chr 9:128,340,527...128,361,470
JBrowse link
G SLC2A3 solute carrier family 2 member 3 IEP mRNA,protein:decreased expression:muscle RGD PMID:11436180 RGD:1642802 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007
JBrowse link
G SLC2A4 solute carrier family 2 member 4 IEP
EXP
associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:11947963 PMID:18778861 RGD:2313624 NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO associated with Diabetes Mellitus RGD PMID:15240880 RGD:1625677 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
JBrowse link
G SOCS3 suppressor of cytokine signaling 3 susceptibility ISO associated with Diabetes Mellitus
associated with Obesity
RGD PMID:15240880 PMID:17295835 RGD:1625677, RGD:2313789 NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: therapeutic CTD PMID:22829583 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SOD3 superoxide dismutase 3 IEP associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma RGD PMID:15171689 RGD:1625698 NCBI chr 4:24,795,573...24,800,842
Ensembl chr 4:24,789,912...24,800,842
JBrowse link
G SORBS1 sorbin and SH3 domain containing 1 susceptibility ISO RGD PMID:17351624 RGD:1642731 NCBI chr10:95,311,773...95,561,371
Ensembl chr10:95,311,771...95,561,414
JBrowse link
G SOX6 SRY-box transcription factor 6 ISO RGD PMID:16148004 RGD:1581307 NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591
JBrowse link
G SQSTM1 sequestosome 1 EXP CTD Direct Evidence: therapeutic CTD PMID:33933676 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 susceptibility
treatment
IAGP
ISO
EXP
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP
CTD Direct Evidence: marker/mechanism
associated with Fatty Liver;mRNA:increased expression:liver
CTD
RGD
PMID:22658938 PMID:18692268 PMID:26394137 PMID:17241878 RGD:2308809, RGD:329955565, RGD:2308807 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20699619 NCBI chr22:41,833,105...41,907,305
Ensembl chr22:41,833,105...41,907,306
JBrowse link
G STK11 serine/threonine kinase 11 ISO associated with obesity;protein:decreased expression:gastrocnemius RGD PMID:16352671 RGD:1601389 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G STS steroid sulfatase EXP CTD Direct Evidence: therapeutic CTD PMID:24497646 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358
JBrowse link
G SYN1 synapsin I ISO RGD PMID:29566703 RGD:13542091 NCBI chr  X:47,571,901...47,619,857
Ensembl chr  X:47,571,901...47,619,857
JBrowse link
G TBC1D4 TBC1 domain family member 4 IAGP ClinVar Annotator: match by term: Insulin resistance ClinVar NCBI chr13:75,283,503...75,482,169
Ensembl chr13:75,283,503...75,482,169
JBrowse link
G TCF7L2 transcription factor 7 like 2 IAGP DNA:SNP (human) RGD PMID:19509102 RGD:2312433 NCBI chr10:112,950,247...113,167,678
Ensembl chr10:112,950,247...113,167,678
JBrowse link
G TF transferrin ISO protein:increased expression:plasma RGD PMID:17350134 RGD:1601515 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
JBrowse link
G TFAP2B transcription factor AP-2 beta IDA RGD PMID:16373417 RGD:1601544 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619
JBrowse link
G THBD thrombomodulin IEP associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11453033 RGD:2312460 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G TLR4 toll like receptor 4 severity ISO
IEP
associated with Obesity
protein:increased expression:skeletal muscle
RGD PMID:19675137 PMID:17426960 PMID:18633101 RGD:2312483, RGD:1620681, RGD:2312489 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TNF tumor necrosis factor treatment IAGP
ISO
EXP
associated with obesity
CTD Direct Evidence: marker/mechanism
associated with Obesity
CTD
RGD
PMID:16493877 PMID:20943792 PMID:16202847 PMID:9832430 PMID:25016878 RGD:1580312, RGD:14995428, RGD:10450578 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IEP associated with obesity;protein:increased expression:serum RGD PMID:15936463 RGD:1620889 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IEP associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression RGD PMID:11882518 RGD:1624180 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TRIB3 tribbles pseudokinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20461355 NCBI chr20:380,760...397,559
Ensembl chr20:362,835...397,559
JBrowse link
G TSC1 TSC complex subunit 1 ISO RGD PMID:15380067 RGD:1624197 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G UCP1 uncoupling protein 1 IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human) RGD PMID:16338218 RGD:1624979 NCBI chr 4:140,559,431...140,568,961
Ensembl chr 4:140,559,431...140,568,961
JBrowse link
G UCP2 uncoupling protein 2 IAGP DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) RGD PMID:17870627 RGD:2313512 NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,061...73,982,843
JBrowse link
G UCP3 uncoupling protein 3 IMP
IAGP
DNA:polymorphism:promoter:-55C>T (human) RGD PMID:17571165 PMID:17870627 RGD:2313515, RGD:2313512 NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 IEP RGD PMID:11882338 RGD:1580351 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
G VDR vitamin D receptor ISO RGD PMID:25801026 RGD:14402022 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G VWF von Willebrand factor IEP protein:increased expression:plasma RGD PMID:16631442 RGD:1625711 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
JBrowse link
G XBP1 X-box binding protein 1 treatment ISO
EXP
CTD Direct Evidence: therapeutic CTD
RGD
PMID:27325692 PMID:15486293 PMID:26394137 RGD:2326004, RGD:329955565 NCBI chr22:28,794,560...28,800,569
Ensembl chr22:28,794,555...28,800,597
JBrowse link
G ZC3H10 zinc finger CCCH-type containing 10 EXP CTD Direct Evidence: therapeutic CTD PMID:31775033 NCBI chr12:56,118,266...56,127,514
Ensembl chr12:56,118,260...56,127,514
JBrowse link
abdominal obesity-metabolic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTF1 cardiotrophin 1 ISS MouseDO NCBI chr16:30,895,846...30,903,560
Ensembl chr16:30,896,614...30,903,547
JBrowse link
G GUCY2C guanylate cyclase 2C ISS MouseDO NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599
JBrowse link
G LEP leptin ISS MouseDO NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISS MouseDO NCBI chr15:75,347,039...75,357,115
Ensembl chr15:75,346,955...75,357,115
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISS MouseDO NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PRKCI protein kinase C iota ISS MouseDO NCBI chr 3:170,222,424...170,305,977
Ensembl chr 3:170,222,424...170,305,977
JBrowse link
G SIRT3 sirtuin 3 ISS MouseDO NCBI chr11:215,030...236,931
Ensembl chr11:215,030...236,931
JBrowse link
G SLC2A9 solute carrier family 2 member 9 ISS MouseDO NCBI chr 4:9,771,025...10,040,270
Ensembl chr 4:9,771,153...10,054,936
JBrowse link
abdominal obesity-metabolic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO protein:increased oxidation:cardiac muscle cell RGD PMID:23997093 RGD:13782087 NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390
JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:30172001 RGD:13792561 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G LEP leptin ISS OMIM:605552 MouseDO NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LPL lipoprotein lipase treatment ISO RGD PMID:26996629 RGD:13794382 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G MTTP microsomal triglyceride transfer protein IAGP ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1 ClinVar PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 More... NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997
JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TP53INP1 tumor protein p53 inducible nuclear protein 1 ISS OMIM:605552 MouseDO NCBI chr 8:94,925,972...94,949,378
Ensembl chr 8:94,925,972...94,949,378
JBrowse link
abdominal obesity-metabolic syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHDC1 AT-hook DNA binding motif containing 1 IAGP ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 ClinVar PMID:25741868 PMID:29696776 PMID:33644933 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431
JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B IAGP ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3
ClinVar Annotator: match by term: DYRK1B-related condition
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: CENTRAL OBESITY, TYPE 2 DIABETES, HYPERTENSION, AND EARLY-ONSET CORONARY ARTERY DISEASE | ClinVar Annotator: match by term: DYRK1B-related condition
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:28492532 More... NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201
JBrowse link
abdominal obesity-metabolic syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CELA2A chymotrypsin like elastase 2A IAGP ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 OMIM
ClinVar
PMID:25741868 PMID:31358993 NCBI chr 1:15,456,732...15,472,091
Ensembl chr 1:15,456,728...15,472,091
JBrowse link
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INSR insulin receptor IAGP
EXP
ClinVar Annotator: match by term: IRAN, TYPE A
ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1644241 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 More... NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: IRAN, TYPE A ClinVar PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LOC129391047 MPRA-validated peak3314 silencer IAGP ClinVar Annotator: match by term: IRAN, TYPE A ClinVar PMID:25741868 NCBI chr19:7,113,365...7,113,565 JBrowse link
Metabolic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 susceptibility IAGP DNA:SNP:exon:p.R230C (rs9282541) (human) RGD PMID:17287470 RGD:1601092 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
JBrowse link
G ACACA acetyl-CoA carboxylase alpha ameliorates ISO mRNA:increased expression:liver (mouse) RGD PMID:29684438 PMID:27821167 RGD:329333017, RGD:401799622 NCBI chr17:37,084,992...37,406,836
Ensembl chr17:37,084,992...37,406,836
JBrowse link
G ACACB acetyl-CoA carboxylase beta ISO mRNA:increased expression:liver (mouse) RGD PMID:29684438 RGD:329333017 NCBI chr12:109,111,189...109,268,226
Ensembl chr12:109,116,587...109,268,226
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain treatment ISO RGD PMID:25191539 RGD:10047118 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
JBrowse link
G ACAT2 acetyl-CoA acetyltransferase 2 susceptibility IAGP DNA:polymorphism RGD PMID:14557872 RGD:1581921 NCBI chr 6:159,762,045...159,779,112
Ensembl chr 6:159,762,045...159,779,112
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IAGP
EXP
IEP
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human)
CTD Direct Evidence: marker/mechanism
associated with vascular diseases; protein:decreased expression:plasma
protein:decreased expression:serum
CTD
RGD
PMID:16793964 PMID:17618945 PMID:18162013 PMID:20833989 PMID:19690575 More... RGD:2313234, RGD:5686800, RGD:5686428, RGD:5686407 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADRB2 adrenoceptor beta 2 susceptibility IAGP
IEA
DNA:polymorphisms: :p.R16G, p.Q27E RGD
GAD
PMID:14557466 PMID:15118671 RGD:1601127, RGD:1331525 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G AGT angiotensinogen ISO mRNA, protein:increased expression:adipose tissue RGD PMID:17260464 RGD:1601134 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G AGTR1 angiotensin II receptor type 1 susceptibility IAGP DNA:snp:3' utr:c.5186A>C RGD PMID:17211857 RGD:1601146 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G ALDOA aldolase, fructose-bisphosphate A ISO mRNA:increased expression:aorta RGD PMID:21890532 RGD:13673877 NCBI chr16:30,053,151...30,070,414
Ensembl chr16:30,053,090...30,070,420
Ensembl chr16:30,053,090...30,070,420
Ensembl chr16:30,053,090...30,070,420
JBrowse link
G ALDOA aldolase, fructose-bisphosphate A ISO mRNA:increased expression:aorta RGD PMID:21890532 RGD:13673877 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated susceptibility IEP protein:increased expression:serum RGD PMID:16249437 RGD:1601174 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G APOA1 apolipoprotein A1 IEP
IAGP
protein:decreased expression:serum (human)
DNA: polymorphism: :G2, G3 and G5
RGD PMID:17217166 PMID:21410987 PMID:21410987 RGD:1601183, RGD:5508220, RGD:5508220 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOA2 apolipoprotein A2 IEP protein:decreased expression:serum RGD PMID:19817643 RGD:2313955 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,290...161,223,631
JBrowse link
G APOA5 apolipoprotein A5 susceptibility IAGP DNA:polymorphism: :p.S19W (human) RGD PMID:18789138 RGD:2313315 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
JBrowse link
G APOB apolipoprotein B IEP protein:increased expression:plasma RGD PMID:16828905 RGD:1601198 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOC3 apolipoprotein C3 susceptibility IEP
IAGP
protein:increased expression:serum (human)
DNA:polymorphism:promoter:-482C>T, -455T>C
RGD PMID:16298371 PMID:17416293 RGD:2306766, RGD:1601223 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
JBrowse link
G APOM apolipoprotein M IEP protein:decreased expression:plasma RGD PMID:19539616 RGD:2314236 NCBI chr 6:31,652,404...31,658,210
Ensembl chr 6:31,652,416...31,658,210
JBrowse link
G ATM ATM serine/threonine kinase ISO RGD PMID:17084711 RGD:1601248 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit ISO RGD PMID:23320804 RGD:13838660 NCBI chr13:24,680,408...24,712,472
Ensembl chr13:24,680,408...24,712,472
JBrowse link
G BCHE butyrylcholinesterase IEP protein:increased expression:serum RGD PMID:15907830 RGD:1601317 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G BDNF brain derived neurotrophic factor IEP RGD PMID:11935372 RGD:1580935 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G BGLAP bone gamma-carboxyglutamate protein IEP protein:decreased expression:serum RGD PMID:21760737 RGD:6483594 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317
JBrowse link
G C3 complement C3 IEP RGD PMID:16488421 RGD:2314030 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CAPN10 calpain 10 IAGP DNA:polymorphism RGD PMID:16546286 RGD:1625050 NCBI chr 2:240,586,734...240,599,104
Ensembl chr 2:240,586,734...240,617,705
JBrowse link
G CCK cholecystokinin IEP protein:decreased expression:plasma:associated with Obesity, Morbid (MeSH:D009767) RGD PMID:17443025 RGD:1625798 NCBI chr 3:42,257,826...42,266,185
Ensembl chr 3:42,257,825...42,266,185
JBrowse link
G CCL2 C-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16188961 PMID:18486454 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:plasma (rat) RGD PMID:19905967 RGD:4889977 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CD163 CD163 molecule susceptibility IEP protein:increased expression:blood serum (human) RGD PMID:31027316 RGD:127345132 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
JBrowse link
G CD36 CD36 molecule (CD36 blood group) IAGP
ISO
DNA:SNPs: :multiple (human) RGD PMID:18305138 PMID:9916795 RGD:2307208, RGD:619666 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CD40LG CD40 ligand IEP protein:increased expression:serum RGD PMID:16423632 PMID:20006362 RGD:2314214, RGD:5490591 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CELA2A chymotrypsin like elastase 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:31358993 NCBI chr 1:15,456,732...15,472,091
Ensembl chr 1:15,456,728...15,472,091
JBrowse link
G CHEK2 checkpoint kinase 2 ISO mRNA:increased expression:heart left ventricle (rat) RGD PMID:25129990 RGD:10400905 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP DNA:polymorphism:promoter:-168A>G RGD PMID:17183695 RGD:5491201 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G CRP C-reactive protein IMP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16644639 PMID:21357282 RGD:6482318 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CST3 cystatin C IEP protein:increased expression:serum (human) RGD PMID:19887833 RGD:2314295 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
JBrowse link
G CYBA cytochrome b-245 alpha chain ISO RGD PMID:16741160 RGD:2317864 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 susceptibility IAGP DNA:polymorphism:promoter:-344C>T (human) RGD PMID:17261471 RGD:2307294 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163
JBrowse link
G DDR1 discoidin domain receptor tyrosine kinase 1 ISO RGD PMID:32360427 RGD:151347874 NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156
JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:21990351 RGD:10401057 NCBI chr 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910
JBrowse link
G DIO2 iodothyronine deiodinase 2 IAGP DNA:polymorphism: :p.T92A (human) RGD PMID:18198294 RGD:2313696 NCBI chr14:80,197,526...80,231,057
Ensembl chr14:80,197,526...80,387,757
JBrowse link
G EPHX2 epoxide hydrolase 2 ISO RGD PMID:22007192 RGD:5688391 NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564
JBrowse link
G F3 coagulation factor III, tissue factor IEP associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:12417540 RGD:2313865 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
JBrowse link
G FABP2 fatty acid binding protein 2 IAGP DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India RGD PMID:16919542 RGD:1626401 NCBI chr 4:119,317,250...119,322,138
Ensembl chr 4:119,317,250...119,322,138
JBrowse link
G FABP4 fatty acid binding protein 4 IEP protein:increased expression:serum RGD PMID:16919044 RGD:1625406 NCBI chr 8:81,478,419...81,483,233
Ensembl chr 8:81,478,419...81,483,236
JBrowse link
G FADD Fas associated via death domain ISO protein:increased expression:heart left ventricle RGD PMID:23657904 RGD:11344884 NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390
JBrowse link
G FAS Fas cell surface death receptor ISO mRNA:increased expression:liver (rat) RGD PMID:11934685 RGD:628329 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASN fatty acid synthase ameliorates ISO mRNA:increased expression:liver (mouse) RGD PMID:29684438 PMID:31353547 PMID:27821167 RGD:329333017, RGD:401850595, RGD:401799622 NCBI chr17:82,078,338...82,098,236
Ensembl chr17:82,078,338...82,098,294
JBrowse link
G FGF19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr11:69,698,238...69,704,022
Ensembl chr11:69,698,238...69,704,022
JBrowse link
G FGF21 fibroblast growth factor 21 treatment ISO RGD PMID:25306889 RGD:10401890 NCBI chr19:48,755,524...48,758,330
Ensembl chr19:48,755,524...48,758,333
JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP DNA:SNPs: :rs1421085, rs1558902, rs8050136, rs9939609 (human)
DNA:SNP: :rs9939973 (human)
RGD PMID:21796137 PMID:32061761 RGD:329853776, RGD:329901771 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ameliorates ISO RGD PMID:27821167 RGD:401799622 NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:19374165 PMID:24868532 RGD:2307350, RGD:10449117 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572
JBrowse link
G GCG glucagon ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404
JBrowse link
G GCH1 GTP cyclohydrolase 1 treatment ISO RGD PMID:34200262 RGD:329970293 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
JBrowse link
G GCK glucokinase ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
JBrowse link
G GCKR glucokinase regulator IMP RGD PMID:19861489 RGD:7242423 NCBI chr 2:27,496,839...27,523,684
Ensembl chr 2:27,496,839...27,523,684
JBrowse link
G GGT1 gamma-glutamyltransferase 1 susceptibility IAGP
IEP
RGD PMID:17095717 PMID:24847614 RGD:1601300, RGD:14747015 NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005
JBrowse link
G GHRL ghrelin and obestatin prepropeptide IAGP
IEP
DNA:polymorphisms
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
In peritoneal dialysis patients
associated with Kidney Diseases;protein:decreased expression:serum
ClinVar
RGD
PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 PMID:25741868 More... RGD:1625021, RGD:7242555, RGD:2313748 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947
JBrowse link
G GHRLOS ghrelin opposite strand/antisense RNA IAGP ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to ClinVar PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 PMID:25741868 NCBI chr 3:10,280,952...10,293,449
Ensembl chr 3:10,285,754...10,294,903
JBrowse link
G GPR17 G protein-coupled receptor 17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34144038 NCBI chr 2:127,646,153...127,652,639
Ensembl chr 2:127,645,864...127,652,639
JBrowse link
G GPX3 glutathione peroxidase 3 IEP protein:increased expression:serum RGD PMID:24819036 RGD:401827122 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
JBrowse link
G GSN gelsolin severity ISO RGD PMID:29684438 RGD:329333017 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP RGD PMID:29452132 RGD:14700976 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G HDAC3 histone deacetylase 3 ISO RGD PMID:21763752 RGD:9590183 NCBI chr 5:141,620,881...141,636,849
Ensembl chr 5:141,620,876...141,636,849
JBrowse link
G HGF hepatocyte growth factor IDA study in the Japanese population RGD PMID:15713721 RGD:1642702 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G HMGA1 high mobility group AT-hook 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr 6:34,236,873...34,246,231
Ensembl chr 6:34,236,873...34,246,231
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ameliorates ISO RGD PMID:19461650 PMID:31353547 PMID:27821167 RGD:5508692, RGD:401850595, RGD:401799622 NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:22193921 RGD:10763276 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP Finnish population; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2) RGD PMID:16804065 RGD:1601642 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845
JBrowse link
G HP haptoglobin treatment IEP
ISO
protein:increased expression RGD PMID:17007284 PMID:20508159 RGD:1626341, RGD:11041859 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 disease_progression
susceptibility
TAS
IEP
IAGP
potential therapeutic target
mRNA:increased expression:ascending aorta,epicardial fat (human)
DNA:SNP: (rs12086634)T>G (human)
DNA:SNPs:5'utr,enhancer: (rs846910,rs12086634) (human)
DNA:SNP:: (rs846910) (human)
RGD PMID:16929377 PMID:23007990 PMID:23869418 PMID:21622477 PMID:28750217 RGD:1625075, RGD:329901930, RGD:329901929, RGD:329901919, RGD:329901909 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
JBrowse link
G HTR2C 5-hydroxytryptamine receptor 2C EXP CTD Direct Evidence: marker/mechanism CTD PMID:17632216 PMID:18515891 PMID:19142101 NCBI chr  X:114,584,086...114,910,061
Ensembl chr  X:114,584,078...114,910,061
JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP protein:increased expression:serum RGD PMID:19394054 RGD:2313467 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 susceptibility ISO RGD PMID:31064654 RGD:14985252 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
JBrowse link
G IGF2 insulin like growth factor 2 ISO DNA:insertion RGD PMID:18418699 RGD:2311520 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
JBrowse link
G IGFBP2 insulin like growth factor binding protein 2 IEP RGD PMID:16915540 RGD:1626481 NCBI chr 2:216,632,828...216,664,436
Ensembl chr 2:216,632,828...216,664,436
JBrowse link
G IL18 interleukin 18 treatment ISO
EXP
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16644639 PMID:19717152 PMID:24456735 RGD:4889401, RGD:8655985 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16644639 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IL6R interleukin 6 receptor susceptibility IAGP DNA:polymorphism: :p.D358A RGD PMID:16817825 RGD:1625430 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP
EXP
DNA:SNPs: :rs2276047,snp8(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15220217 PMID:15220217 RGD:1626127 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
JBrowse link
G INS insulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:11274935 PMID:16259526 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G INSR insulin receptor ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G IRS1 insulin receptor substrate 1 ameliorates ISO protein:decreased expression:skeletal muscle RGD PMID:10842668 PMID:31353547 RGD:6482864, RGD:401850595 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
JBrowse link
G IRS2 insulin receptor substrate 2 ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583
JBrowse link
G ITGAV integrin subunit alpha V IEP RGD PMID:16784924 RGD:1627640 NCBI chr 2:186,590,056...186,680,901
Ensembl chr 2:186,590,010...186,680,901
JBrowse link
G KL klotho ISO mRNA:decreased expression:kidney: RGD PMID:11027545 PMID:11027545 RGD:10403056, RGD:10403056 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143
JBrowse link
G LBP lipopolysaccharide binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:23349936 NCBI chr20:38,346,482...38,377,013
Ensembl chr20:38,346,482...38,377,013
JBrowse link
G LDLR low density lipoprotein receptor ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820
JBrowse link
G LEP leptin IEP
EXP
ISO
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma (rat)
CTD
RGD
PMID:16793964 PMID:18515891 PMID:19462476 PMID:25380250 RGD:2311125, RGD:10053625 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LEPR leptin receptor ISO DNA:mutations:cds: : (rat)
DNA:mutations::cds: : (rat)
RGD PMID:32710530 PMID:10901178 PMID:28746409 RGD:401960103, RGD:401965414, RGD:401965413 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LIPE lipase E, hormone sensitive type ISO mRNA:increased expression:liver (mouse) RGD PMID:29684438 RGD:329333017 NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,497...42,427,388
JBrowse link
G LIPG lipase G, endothelial type IEP RGD PMID:16354105 RGD:1580865 NCBI chr18:49,561,479...49,599,185
Ensembl chr18:49,560,699...49,599,185
JBrowse link
G LMNA lamin A/C IAGP DNA:SNP: :c.138747C>T (human) RGD PMID:15205219 RGD:2306121 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LOC110973015 NOS3 5' regulatory region IAGP ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to ClinVar PMID:28361419 NCBI chr 7:150,988,222...150,994,377 JBrowse link
G LRP6 LDL receptor related protein 6 IAGP DNA:missense mutation:cds RGD PMID:17332414 RGD:2298725 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G LRPAP1 LDL receptor related protein associated protein 1 susceptibility IAGP associated with Coronary Disease;DNA:SNP:exon RGD PMID:14557872 RGD:1581921 NCBI chr 4:3,503,612...3,532,422
Ensembl chr 4:3,503,612...3,532,446
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 HEP mRNA:decreased expression:blood, leukocyte (human) RGD PMID:26956845 RGD:155791561 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
JBrowse link
G MIR122 microRNA 122 IEP miRNA:increased expression:serum RGD PMID:27899485 RGD:14401601 NCBI chr18:58,451,074...58,451,158
Ensembl chr18:58,451,074...58,451,158
JBrowse link
G MLXIPL MLX interacting protein like ameliorates ISO RGD PMID:27821167 RGD:401799622 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
JBrowse link
G MTMR9 myotubularin related protein 9 IAGP DNA:SNP: :rs2293855 (human) RGD PMID:21796137 RGD:329853776 NCBI chr 8:11,284,816...11,339,526
Ensembl chr 8:11,284,816...11,328,146
JBrowse link
G MTTP microsomal triglyceride transfer protein IAGP ClinVar Annotator: match by term: Metabolic syndrome X ClinVar PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 More... NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase ISO
IEP
DNA:repeats:intron
protein:increased expression:plasma
RGD PMID:15922301 PMID:17556870 RGD:1642345, RGD:1642337 NCBI chr 7:106,248,298...106,285,888
Ensembl chr 7:106,248,298...106,285,966
JBrowse link
G NEIL1 nei like DNA glycosylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16446448 PMID:17389588 NCBI chr15:75,347,039...75,357,115
Ensembl chr15:75,346,955...75,357,115
JBrowse link
G NGF nerve growth factor IEP RGD PMID:11935372 RGD:1580935 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NNMT nicotinamide N-methyltransferase ISO mRNA,protein:increased expression,increased activity:adipose tissue (rat) RGD PMID:25719492 RGD:401793724 NCBI chr11:114,257,806...114,313,536
Ensembl chr11:114,257,787...114,313,536
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO
IAGP
EXP
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:12947532 PMID:15269839 PMID:20876122 PMID:28361419 PMID:29127233 More... RGD:13450928, RGD:13461762 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NOX1 NADPH oxidase 1 IEP protein:increased expression, increased activity:peripheral blood mononuclear cell (human) RGD PMID:16380495 RGD:1580973 NCBI chr  X:100,843,324...100,874,359
Ensembl chr  X:100,843,324...100,874,359
JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 ameliorates ISO RGD PMID:27821167 RGD:401799622 NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033
JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr 3:119,782,101...119,818,487
Ensembl chr 3:119,780,484...119,818,487
JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr 1:161,229,669...161,238,203
Ensembl chr 1:161,229,666...161,238,244
JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ameliorates ISO RGD PMID:27821167 RGD:401799622 NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,445...55,064,852
JBrowse link
G PDE9A phosphodiesterase 9A treatment ISO RGD PMID:34618683 RGD:242170038 NCBI chr21:42,653,621...42,775,509
Ensembl chr21:42,653,621...42,775,509
JBrowse link
G PLA2G4A phospholipase A2 group IVA ISO mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 1:186,828,949...186,988,981
Ensembl chr 1:186,828,949...186,988,981
JBrowse link
G PLA2G6 phospholipase A2 group VI ISO mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
JBrowse link
G PLA2G7 phospholipase A2 group VII ISO mRNA:increased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693
JBrowse link
G PLAT plasminogen activator, tissue type IEP protein:increased expression:serum RGD PMID:18249307 RGD:2311664 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
JBrowse link
G PON1 paraoxonase 1 IEP
EXP
protein:decreased activity:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21573798 PMID:14602783 RGD:1642618 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ameliorates ISO mRNA:decreased expression:liver (rat) RGD PMID:11934685 PMID:31353547 RGD:628329, RGD:401850595 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma no_association
ameliorates
IAGP
ISO
DNA:SNP: :p.P12A (human) RGD PMID:18959602 PMID:31353547 PMID:16183630 PMID:16186413 RGD:2301843, RGD:401850595, RGD:1580683, RGD:1580686 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:decreased expression:gastrocnemius muscle (rat) RGD PMID:20383225 RGD:10059661 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr 1:56,645,314...56,715,335
Ensembl chr 1:56,645,314...56,715,335
JBrowse link
G PRL prolactin IEP RGD PMID:16303834 RGD:1642558 NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:liver RGD PMID:17883899 RGD:1642586 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G RBP4 retinol binding protein 4 disease_progression IEP protein:increased expression:blood serum (human)
associated with obstructive sleep apnea;protein:increased expression:blood plasma (human)
RGD PMID:19339013 PMID:19003725 RGD:329845591, RGD:329853307 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
JBrowse link
G REG1A regenerating family member 1 alpha treatment ISO RGD PMID:21685239 RGD:10044029 NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409
JBrowse link
G RETN resistin IAGP
EXP
DNA:SNP:promoter:-420C>G (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18328350 PMID:17598818 RGD:7207155 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
JBrowse link
G SCD stearoyl-CoA desaturase ameliorates ISO RGD PMID:27821167 RGD:401799622 NCBI chr10:100,347,233...100,364,826
Ensembl chr10:100,347,233...100,364,826
JBrowse link
G SCG3 secretogranin III IAGP DNA:SNP: :rs3764220 (human) RGD PMID:21796137 RGD:329853776 NCBI chr15:51,681,503...51,721,026
Ensembl chr15:51,681,492...51,721,026
JBrowse link
G SELP selectin P IEP RGD PMID:19061719 RGD:2312292 NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
JBrowse link
G SERPINA12 serpin family A member 12 treatment IDA human protein in a mouse model RGD PMID:16030142 RGD:1547845 NCBI chr14:94,487,279...94,517,844
Ensembl chr14:94,487,274...94,517,844
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO RGD PMID:26084260 RGD:11073736 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SHBG sex hormone binding globulin IEP
EXP
protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16968811 PMID:17992261 PMID:17884445 RGD:2313785 NCBI chr17:7,614,064...7,633,372
Ensembl chr17:7,613,946...7,633,382
JBrowse link
G SIM1 SIM bHLH transcription factor 1 IAGP ClinVar Annotator: match by term: SIM1-associated metabolic syndrome ClinVar NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921
JBrowse link
G SIM1-AS1 SIM1 antisense RNA 1 IAGP ClinVar Annotator: match by term: SIM1-associated metabolic syndrome ClinVar NCBI chr 6:100,393,486...100,444,796 JBrowse link
G SIRT1 sirtuin 1 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism
protein:decreased expression:hippocampus (rat)
CTD
RGD
PMID:20068143 PMID:21514307 PMID:25356430 RGD:9585758, RGD:10053569 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SLC27A1 solute carrier family 27 member 1 susceptibility ISO RGD PMID:16611988 RGD:1642790 NCBI chr19:17,468,767...17,506,168
Ensembl chr19:17,468,769...17,506,168
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
JBrowse link
G SLC2A4 solute carrier family 2 member 4 ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257
JBrowse link
G SOAT2 sterol O-acyltransferase 2 susceptibility IAGP DNA:SNPs RGD PMID:14557872 RGD:1581921 NCBI chr12:53,103,486...53,124,535
Ensembl chr12:53,103,486...53,124,535
JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:28875871 RGD:26923956 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 disease_progression
ameliorates
ISO protein:increased expression:liver (mouse)
mRNA:increased expression:liver (rat)
RGD PMID:29173234 PMID:31353547 PMID:11934685 RGD:401827867, RGD:401850595, RGD:628329 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
JBrowse link
G TF transferrin susceptibility IEP protein:increased expression:serum RGD PMID:17416791 RGD:1601514 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO mRNA:increased expression:left heart ventricle RGD PMID:18692559 RGD:2306739 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G THBD thrombomodulin IEP associated with Diabetic Nephropathies;protein:increased expression:plasma RGD PMID:16567841 RGD:1601641 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:24441717 RGD:10450604 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP associated with obesity;protein:increased expression:plasma RGD PMID:17200772 RGD:1624178 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TRIB3 tribbles pseudokinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18497449 NCBI chr20:380,760...397,559
Ensembl chr20:362,835...397,559
JBrowse link
G UCP2 uncoupling protein 2 ISO mRNA:decreased expression:liver (rat) RGD PMID:11934685 RGD:628329 NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,061...73,982,843
JBrowse link
G UCP3 uncoupling protein 3 treatment ISO RGD PMID:11934685 RGD:628329 NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:18718174 RGD:2313109 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
G VEGFA vascular endothelial growth factor A IEP protein:increased expression:plasma: RGD PMID:22206010 RGD:7483588 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VWF von Willebrand factor IEP protein:increased expression:plasma RGD PMID:16764036 RGD:1625709 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 53596
    syndrome 25122
      hyperinsulinism 2724
        Insulin Resistance 2645
          HAIR-AN syndrome 0
          Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans 3
          Metabolic Syndrome + 2468
          Pseudoacromegaly with Severe Insulin Resistance 0
Path 2
Term Annotations click to browse term
  disease 53596
    Developmental Disease 33540
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 29024
        genetic disease 28217
          inherited metabolic disorder 10957
            carbohydrate metabolic disorder 6241
              glucose metabolism disease 4565
                hyperinsulinism 2724
                  Insulin Resistance 2645
                    HAIR-AN syndrome 0
                    Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans 3
                    Metabolic Syndrome + 2468
                    Pseudoacromegaly with Severe Insulin Resistance 0
paths to the root