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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:Metabolic Syndrome
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Accession:DOID:9006646 term browser browse the term
Definition:A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
Synonyms:exact_synonym: Cardiovascular Syndromes, Metabolic;   Insulin Resistance Syndrome X;   Metabolic Cardiovascular Syndrome;   Metabolic Syndrome X;   Reaven syndrome X;   dysmetabolic syndrome X
 narrow_synonym: SIM1-ASSOCIATED METABOLIC SYNDROME
 related_synonym: METABOLIC SYNDROME, SUSCEPTIBILITY TO
 primary_id: MESH:D024821
 xref: EFO:0000195


show annotations for term's descendants           Sort by:
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 ISO DNA:SNP:exon:p.R230C (rs9282541) (human) RGD PMID:17287470 RGD:1601092 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO mRNA:increased expression:liver (mouse) RGD PMID:29684438 RGD:329333017 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G Acacb acetyl-CoA carboxylase beta ISO mRNA:increased expression:liver (mouse) RGD PMID:29684438 RGD:329333017 NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655 		JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain treatment IDA RGD PMID:25191539 RGD:10047118 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Acat2 acetyl-CoA acetyltransferase 2 susceptibility ISO DNA:polymorphism RGD PMID:14557872 RGD:1581921 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human)
protein:decreased expression:serum
associated with vascular diseases; protein:decreased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16793964 PMID:17618945 PMID:18162013 PMID:20833989 PMID:19690575 More... RGD:2313234, RGD:5686407, RGD:5686428, RGD:5686800 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphisms: :p.R16G, p.Q27E RGD
GAD		 PMID:14557466 PMID:15118671 RGD:1601127, RGD:1331525 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Agt angiotensinogen IEP mRNA, protein:increased expression:adipose tissue RGD PMID:17260464 RGD:1601134 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a susceptibility ISO DNA:snp:3' utr:c.5186A>C RGD PMID:17211857 RGD:1601146 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring ISO RGD PMID:23569246 RGD:14349049 NCBI chr 9:87,804,749...87,807,866
Ensembl chr 9:87,804,749...87,807,913 		JBrowse link
G Aldoa aldolase, fructose-bisphosphate A IEP mRNA:increased expression:aorta RGD PMID:21890532 RGD:13673877 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated susceptibility ISO protein:increased expression:serum RGD PMID:16249437 RGD:1601174 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression:serum (human)
DNA: polymorphism: :G2, G3 and G5		 RGD PMID:17217166 PMID:21410987 RGD:1601183, RGD:5508220 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:decreased expression:serum RGD PMID:19817643 RGD:2313955 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355 		JBrowse link
G Apoa5 apolipoprotein A5 susceptibility ISO DNA:polymorphism: :p.S19W (human) RGD PMID:18789138 RGD:2313315 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:plasma RGD PMID:16828905 RGD:1601198 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoc3 apolipoprotein C3 susceptibility ISO protein:increased expression:serum (human)
DNA:polymorphism:promoter:-482C>T, -455T>C		 RGD PMID:16298371 PMID:17416293 RGD:2306766, RGD:1601223 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Apom apolipoprotein M ISO protein:decreased expression:plasma RGD PMID:19539616 RGD:2314236 NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550 		JBrowse link
G Atm ATM serine/threonine kinase ISO RGD PMID:17084711 RGD:1601248 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit IEP RGD PMID:23320804 RGD:13838660 NCBI chr15:30,443,571...30,468,229
Ensembl chr15:30,443,571...30,468,229 		JBrowse link
G Bche butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15907830 RGD:1601317 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:11935372 RGD:1580935 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:21760737 RGD:6483594 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G C3 complement C3 ISO RGD PMID:16488421 RGD:2314030 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Capn10 calpain 10 ISO DNA:polymorphism RGD PMID:16546286 RGD:1625050 NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494 		JBrowse link
G Cck cholecystokinin ISO RGD PMID:17443025 RGD:1625798 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16188961 PMID:18486454 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEP protein:increased secretion:plasma (rat) RGD PMID:19905967 RGD:4889977 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Cd163 CD163 molecule susceptibility ISO protein:increased expression:blood serum (human) RGD PMID:31027316 RGD:127345132 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cd36 CD36 molecule ISO
IAGP		 DNA:SNPs: :multiple (human) RGD PMID:18305138 PMID:9916795 RGD:2307208, RGD:619666 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:16423632 PMID:20006362 RGD:2314214, RGD:5490591 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cela2a chymotrypsin like elastase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31358993 NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632 		JBrowse link
G Chek2 checkpoint kinase 2 IEP mRNA:increased expression:heart left ventricle (rat) RGD PMID:25129990 RGD:10400905 NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO DNA:polymorphism:promoter:-168A>G (human) RGD PMID:17183695 RGD:5491201 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440 		JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16644639 PMID:21357282 RGD:6482318 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cst3 cystatin C ISO protein:increased expression:serum (human) RGD PMID:19887833 RGD:2314295 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
G Cyba cytochrome b-245 alpha chain IEP RGD PMID:16741160 RGD:2317864 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 susceptibility ISO DNA:polymorphism:promoter:-344C>T (human) RGD PMID:17261471 RGD:2307294 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 susceptibility ISO DNA:polymorphism:promoter:-344C>T (human) RGD PMID:17261471 RGD:2307294 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 ISO RGD PMID:32360427 RGD:151347874 NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:21990351 RGD:10401057 NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299 		JBrowse link
G Dio2 iodothyronine deiodinase 2 ISO DNA:polymorphism: :p.T92A (human) RGD PMID:18198294 RGD:2313696 NCBI chr 6:109,665,523...109,679,809
Ensembl chr 6:109,665,523...109,679,809 		JBrowse link
G Ephx2 epoxide hydrolase 2 IMP RGD PMID:22007192 RGD:5688391 NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615 		JBrowse link
G F3 coagulation factor III, tissue factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:12417540 RGD:2313865 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668 		JBrowse link
G Fabp2 fatty acid binding protein 2 ISO RGD PMID:16919542 RGD:1626401 NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089 		JBrowse link
G Fabp4 fatty acid binding protein 4 ISO protein:increased expression:serum RGD PMID:16919044 RGD:1625406 NCBI chr 2:91,580,858...91,585,578
Ensembl chr 2:91,580,885...91,585,578 		JBrowse link
G Fadd Fas associated via death domain IEP protein:increased expression:heart left ventricle RGD PMID:23657904 RGD:11344884 NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653 		JBrowse link
G Fasn fatty acid synthase ISO mRNA:increased expression:liver (mouse) RGD PMID:29684438 RGD:329333017 NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261 		JBrowse link
G Fgf19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr 1:200,056,656...200,059,944
Ensembl chr 1:200,056,644...200,060,287 		JBrowse link
G Fgf21 fibroblast growth factor 21 treatment ISO RGD PMID:25306889 RGD:10401890 NCBI chr 1:96,083,495...96,084,738
Ensembl chr 1:96,083,441...96,090,454 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IEP RGD PMID:19374165 PMID:24868532 RGD:2307350, RGD:10449117 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gckr glucokinase regulator ISO RGD PMID:19861489 RGD:7242423 NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654 		JBrowse link
G Ggt1 gamma-glutamyltransferase 1 susceptibility ISO RGD PMID:17095717 PMID:24847614 RGD:1601300, RGD:14747015 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO DNA:polymorphisms
associated with Kidney Diseases;protein:decreased expression:serum
In peritoneal dialysis patients
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to		 ClinVar
RGD		 PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 PMID:25741868 More... RGD:1625021, RGD:2313748, RGD:7242555 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621 		JBrowse link
G Gpr17 G protein-coupled receptor 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34144038 NCBI chr18:23,576,212...23,583,177
Ensembl chr18:23,577,242...23,582,966 		JBrowse link
G Gsn gelsolin severity ISO RGD PMID:29684438 RGD:329333017 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:29452132 RGD:14700976 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Hdac3 histone deacetylase 3 IEP RGD PMID:21763752 RGD:9590183 NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856 		JBrowse link
G Hgf hepatocyte growth factor ISO RGD PMID:15713721 RGD:1642702 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase IMP RGD PMID:19461650 RGD:5508692 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:22193921 RGD:10763276 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO RGD PMID:16804065 RGD:1601642 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Hp haptoglobin treatment ISO
IDA		 protein:increased expression RGD PMID:17007284 PMID:20508159 RGD:1626341, RGD:11041859 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 IEP RGD PMID:14697232 RGD:1625074 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632216 PMID:18515891 PMID:19142101 NCBI chr  X:110,640,777...110,870,288
Ensembl chr  X:110,641,153...110,870,287 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:19394054 RGD:2313467 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 susceptibility ISO RGD PMID:31064654 RGD:14985252 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Igf2 insulin-like growth factor 2 IAGP DNA:insertion RGD PMID:18418699 RGD:2311520 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO RGD PMID:16915540 RGD:1626481 NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937 		JBrowse link
G Il18 interleukin 18 treatment IEP
ISO		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16644639 PMID:19717152 PMID:24456735 RGD:4889401, RGD:8655985 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16644639 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il6r interleukin 6 receptor susceptibility ISO DNA:polymorphism: :p.D358A RGD PMID:16817825 RGD:1625430 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO DNA:SNPs: :rs2276047,snp8(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15220217 PMID:15220217 RGD:1626127 NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11274935 PMID:16259526 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Irs1 insulin receptor substrate 1 IEP protein:decreased expression:skeletal muscle RGD PMID:10842668 RGD:6482864 NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122 		JBrowse link
G Itgav integrin subunit alpha V ISO RGD PMID:16784924 RGD:1627640 NCBI chr 3:68,838,524...68,926,653
Ensembl chr 3:68,838,189...68,926,639 		JBrowse link
G Kl Klotho IEP
ISO		 mRNA:decreased expression:kidney: RGD PMID:11027545 PMID:11027545 RGD:10403056, RGD:10403056 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		JBrowse link
G Lbp lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349936 NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586 		JBrowse link
G Lep leptin ISO
IEP		 protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16793964 PMID:18515891 PMID:19462476 PMID:25380250 RGD:2311125, RGD:10053625 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lipe lipase E, hormone sensitive type ISO mRNA:increased expression:liver (mouse) RGD PMID:29684438 RGD:329333017 NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310 		JBrowse link
G Lipg lipase G, endothelial type ISO RGD PMID:16354105 RGD:1580865 NCBI chr18:68,514,923...68,536,105
Ensembl chr18:68,514,923...68,536,260 		JBrowse link
G Lmna lamin A/C ISO DNA:SNP: :c.138747C>T (human) RGD PMID:15205219 RGD:2306121 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lrp6 LDL receptor related protein 6 ISO DNA:missense mutation:cds RGD PMID:17332414 RGD:2298725 NCBI chr 4:167,266,581...167,400,155
Ensembl chr 4:167,270,353...167,400,497 		JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 susceptibility ISO associated with Coronary Disease;DNA:SNP:exon RGD PMID:14557872 RGD:1581921 NCBI chr14:75,651,371...75,663,380
Ensembl chr14:75,651,376...75,665,414 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO mRNA:decreased expression:blood, leukocyte (human) RGD PMID:26956845 RGD:155791561 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Mir122 microRNA 122 ISO miRNA:increased expression:serum RGD PMID:27899485 RGD:14401601 NCBI chr18:58,758,703...58,758,787 JBrowse link
G Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Metabolic syndrome X | ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to ClinVar PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 More... NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239 		JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO
IAGP		 protein:increased expression:plasma
DNA:repeats:intron		 RGD PMID:17556870 PMID:15922301 RGD:1642337, RGD:1642345 NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100 		JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 PMID:17389588 NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258 		JBrowse link
G Ngf nerve growth factor ISO RGD PMID:11935372 RGD:1580935 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO
IMP
IDA		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to		 CTD
ClinVar
RGD		 PMID:12947532 PMID:15269839 PMID:20876122 PMID:28361419 PMID:29127233 More... RGD:13450928, RGD:13461762 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nox1 NADPH oxidase 1 ISO protein:increased expression, increased activity:peripheral blood mononuclear cell (human) RGD PMID:16380495 RGD:1580973 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658 		JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906 		JBrowse link
G Pde9a phosphodiesterase 9A treatment ISO RGD PMID:34618683 RGD:242170038 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948 		JBrowse link
G Pla2g4a phospholipase A2 group IVA IEP mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266 		JBrowse link
G Pla2g6 phospholipase A2 group VI IEP mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Pla2g7 phospholipase A2 group VII IEP mRNA:increased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476 		JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:serum RGD PMID:18249307 RGD:2311664 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21573798 PMID:14602783 RGD:1642618 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma no_association ISO
IDA		 DNA:SNP: :p.P12A (human) RGD PMID:18959602 PMID:16183630 PMID:16186413 RGD:2301843, RGD:1580683, RGD:1580686 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:decreased expression:gastrocnemius muscle (rat) RGD PMID:20383225 RGD:10059661 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Prl prolactin ISO RGD PMID:16303834 RGD:1642558 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP protein:increased expression:liver RGD PMID:17883899 RGD:1642586 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Reg1a regenerating family member 1 alpha treatment IDA RGD PMID:21685239 RGD:10044029 NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570 		JBrowse link
G Retn resistin ISO DNA:SNP:promoter:-420G>C (rs1862513) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18328350 PMID:17598818 RGD:7207155 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620 		JBrowse link
G Selp selectin P ISO RGD PMID:19061719 RGD:2312292 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845 		JBrowse link
G Serpina12 serpin family A member 12 treatment ISO human protein in a mouse model RGD PMID:16030142 RGD:1547845 NCBI chr 6:122,952,552...122,967,271
Ensembl chr 6:122,952,552...122,967,271 		JBrowse link
G Serpine1 serpin family E member 1 treatment IDA RGD PMID:26084260 RGD:11073736 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Shbg sex hormone binding globulin ISO protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16968811 PMID:17992261 PMID:17884445 RGD:2313785 NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057 		JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: SIM1-associated metabolic syndrome ClinVar NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212 		JBrowse link
G Sirt1 sirtuin 1 treatment IDA
IEP
ISO		 protein:decreased expression:hippocampus (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20068143 PMID:21514307 PMID:25356430 RGD:9585758, RGD:10053569 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Slc27a1 solute carrier family 27 member 1 susceptibility ISO RGD PMID:16611988 RGD:1642790 NCBI chr16:18,278,984...18,300,173
Ensembl chr16:18,278,984...18,296,063 		JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility ISO DNA:SNPs RGD PMID:14557872 RGD:1581921 NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915 		JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:28875871 RGD:26923956 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tf transferrin susceptibility ISO protein:increased expression:serum RGD PMID:17416791 RGD:1601514 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP mRNA:increased expression:left heart ventricle RGD PMID:18692559 RGD:2306739 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Thbd thrombomodulin ISO associated with Diabetic Nephropathies;protein:increased expression:plasma RGD PMID:16567841 RGD:1601641 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:24441717 RGD:10450604 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with obesity;protein:increased expression:plasma RGD PMID:17200772 RGD:1624178 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Trib3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18497449 NCBI chr 3:140,809,634...140,815,230
Ensembl chr 3:140,809,043...140,814,497 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP RGD PMID:18718174 RGD:2313109 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:22206010 RGD:7483588 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16764036 RGD:1625709 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		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 chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335 		JBrowse link
G Gucy2c guanylate cyclase 2C ISS MouseDO NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092 		JBrowse link
G Lep leptin ISS MouseDO NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISS MouseDO NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS MouseDO NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Prkci protein kinase C, iota ISS MouseDO NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352 		JBrowse link
G Sirt3 sirtuin 3 ISS MouseDO NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808 		JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISS MouseDO NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981 		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 IDA protein:increased oxidation:cardiac muscle cell RGD PMID:23997093 RGD:13782087 NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Fadd Fas associated via death domain treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653 		JBrowse link
G Fas Fas cell surface death receptor IEP RGD PMID:30172001 RGD:13792561 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Lep leptin ISS OMIM:605552 MouseDO NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lpl lipoprotein lipase treatment IDA RGD PMID:26996629 RGD:13794382 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1 ClinVar PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 More... NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tp53inp1 tumor protein p53 inducible nuclear protein 1 ISS OMIM:605552 MouseDO NCBI chr 5:24,253,986...24,272,250
Ensembl chr 5:24,260,568...24,267,968 		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 ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 ClinVar PMID:25741868 PMID:29696776 PMID:33644933 NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145 		JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 OMIM
ClinVar		 PMID:24827035 PMID:25741868 PMID:28492532 NCBI chr 1:83,479,139...83,497,011
Ensembl chr 1:83,479,147...83,487,169 		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 ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 OMIM
ClinVar		 PMID:31358993 NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Metabolic Syndrome 335
        abdominal obesity-metabolic syndrome + 71
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        genetic disease 18183
          inherited metabolic disorder 6165
            carbohydrate metabolic disorder 3218
              glucose metabolism disease 2013
                hyperinsulinism 576
                  Insulin Resistance 536
                    Metabolic Syndrome 335
                      abdominal obesity-metabolic syndrome + 71
paths to the root