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
Accession: DOID:9006646
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
G
Abca1
ATP-binding cassette, sub-family A member 1
susceptibility
ISO
DNA:SNP:exon:p.R230C (rs9282541) (human)
RGD
PMID:17287470
RGD:1601092
NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
G
Acaca
acetyl-Coenzyme A carboxylase alpha
ameliorates
IEP ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438 PMID:27821167
RGD:329333017 , RGD:401799622
NCBI chr11:84,020,461...84,292,477
Ensembl chr11:84,020,498...84,292,477
G
Acacb
acetyl-Coenzyme A carboxylase beta
IEP
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438
RGD:329333017
NCBI chr 5:114,284,748...114,388,822
Ensembl chr 5:114,284,596...114,388,822
G
Acadvl
acyl-Coenzyme A dehydrogenase, very long chain
treatment
ISO
RGD
PMID:25191539
RGD:10047118
NCBI chr11:69,901,009...69,906,254
Ensembl chr11:69,901,009...69,906,237
G
Acat2
acetyl-Coenzyme A acetyltransferase 2
susceptibility
ISO
DNA:polymorphism
RGD
PMID:14557872
RGD:1581921
NCBI chr17:13,161,929...13,179,612
Ensembl chr17:13,161,777...13,179,634
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO IMP
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 PMID:21976521 PMID:21625822 PMID:17893004 More...
RGD:2313234 , RGD:5686407 , RGD:5686428 , RGD:5686800
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
G
Adrb2
adrenergic receptor, beta 2
susceptibility
ISO
DNA:polymorphisms: :p.R16G, p.Q27E
RGD GAD
PMID:14557466 PMID:15118671
RGD:1601127 , RGD:1331525
NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
G
Agt
angiotensinogen
ISO
mRNA, protein:increased expression:adipose tissue
RGD
PMID:17260464
RGD:1601134
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
G
Agtr1a
angiotensin II receptor, type 1a
susceptibility
ISO
DNA:snp:3' utr:c.5186A>C
RGD
PMID:17211857
RGD:1601146
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
G
Akp3
alkaline phosphatase 3, intestine, not Mn requiring
IMP
RGD
PMID:23569246
RGD:14349049
NCBI chr 1:87,052,676...87,056,450
Ensembl chr 1:87,052,695...87,055,634
G
Aldoa
aldolase A, fructose-bisphosphate
ISO
mRNA:increased expression:aorta
RGD
PMID:21890532
RGD:13673877
NCBI chr 7:126,394,406...126,399,537
Ensembl chr 7:126,394,406...126,399,923
G
Alpl
alkaline phosphatase, liver/bone/kidney
susceptibility
ISO
protein:increased expression:serum
RGD
PMID:16249437
RGD:1601174
NCBI chr 4:137,469,042...137,523,695
Ensembl chr 4:137,469,044...137,523,695
G
Apoa1
apolipoprotein A-I
ISO
protein:decreased expression:serum (human) DNA: polymorphism: :G2, G3 and G5
RGD
PMID:17217166 PMID:21410987
RGD:1601183 , RGD:5508220
NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
G
Apoa2
apolipoprotein A-II
ISO
protein:decreased expression:serum
RGD
PMID:19817643
RGD:2313955
NCBI chr 1:171,049,133...171,053,948
Ensembl chr 1:171,052,623...171,053,948
G
Apoa5
apolipoprotein A-V
susceptibility
ISO
DNA:polymorphism: :p.S19W (human)
RGD
PMID:18789138
RGD:2313315
NCBI chr 9:46,179,906...46,183,219
Ensembl chr 9:46,179,931...46,183,217
G
Apob
apolipoprotein B
ISO
protein:increased expression:plasma
RGD
PMID:16828905
RGD:1601198
NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
G
Apoc3
apolipoprotein C-III
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 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934
G
Apom
apolipoprotein M
ISO
protein:decreased expression:plasma
RGD
PMID:19539616
RGD:2314236
NCBI chr17:35,347,973...35,350,777
Ensembl chr17:35,347,973...35,351,026
G
Atm
ataxia telangiectasia mutated
IDA
RGD
PMID:17084711
RGD:1601248
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
G
Atp12a
ATPase, H+/K+ transporting, nongastric, alpha polypeptide
ISO
RGD
PMID:23320804
RGD:13838660
NCBI chr14:56,602,525...56,626,008
Ensembl chr14:56,602,525...56,626,007
G
Bche
butyrylcholinesterase
ISO
protein:increased expression:serum
RGD
PMID:15907830
RGD:1601317
NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
G
Bdnf
brain derived neurotrophic factor
ISO
RGD
PMID:11935372
RGD:1580935
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
G
Bglap
bone gamma carboxyglutamate protein
ISO
protein:decreased expression:serum
RGD
PMID:21760737
RGD:6483594
NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771
G
C3
complement component 3
ISO
RGD
PMID:16488421
RGD:2314030
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
G
Capn10
calpain 10
ISO
DNA:polymorphism
RGD
PMID:16546286
RGD:1625050
NCBI chr 1:92,862,130...92,875,670
Ensembl chr 1:92,862,098...92,875,663
G
Cck
cholecystokinin
ISO
RGD
PMID:17443025
RGD:1625798
NCBI chr 9:121,318,890...121,324,728
Ensembl chr 9:121,318,890...121,324,760
G
Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16188961 PMID:18486454
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
G
Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:plasma (rat)
RGD
PMID:19905967
RGD:4889977
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
G
Cd163
CD163 antigen
susceptibility
ISO
protein:increased expression:blood serum (human)
RGD
PMID:31027316
RGD:127345132
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
G
Cd36
CD36 molecule
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:9916795 PMID:18305138
RGD:619666 , RGD:2307208
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:16423632 PMID:20006362
RGD:2314214 , RGD:5490591
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
G
Cela2a
chymotrypsin-like elastase family, member 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31358993
NCBI chr 4:141,542,265...141,553,316
Ensembl chr 4:141,542,273...141,553,471
G
Chek2
checkpoint kinase 2
ISO
mRNA:increased expression:heart left ventricle (rat)
RGD
PMID:25129990
RGD:10400905
NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011
G
Ciita
class II transactivator
ISO
DNA:polymorphism:promoter:-168A>G (human)
RGD
PMID:17183695
RGD:5491201
NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282
G
Crp
C-reactive protein, pentraxin-related
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16644639 PMID:21357282
RGD:6482318
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
G
Cst3
cystatin C
ISO
protein:increased expression:serum (human)
RGD
PMID:19887833
RGD:2314295
NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612
G
Cyba
cytochrome b-245, alpha polypeptide
ISO
RGD
PMID:16741160
RGD:2317864
NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
G
Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
susceptibility
ISO
DNA:polymorphism:promoter:-344C>T (human)
RGD
PMID:17261471
RGD:2307294
NCBI chr15:74,722,467...74,728,080
Ensembl chr15:74,722,859...74,728,167
G
Cyp7a1
cytochrome P450, family 7, subfamily a, polypeptide 1
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 4:6,265,612...6,275,632
Ensembl chr 4:6,265,612...6,275,633
G
Ddr1
discoidin domain receptor family, member 1
IMP
RGD
PMID:32360427
RGD:151347874
NCBI chr17:35,992,459...36,015,633
Ensembl chr17:35,992,459...36,015,513
G
Dgat1
diacylglycerol O-acyltransferase 1
treatment
IMP
RGD
PMID:21990351
RGD:10401057
NCBI chr15:76,386,215...76,396,167
Ensembl chr15:76,386,215...76,396,153
G
Dio2
deiodinase, iodothyronine, type II
ISO
DNA:polymorphism: :p.T92A (human)
RGD
PMID:18198294
RGD:2313696
NCBI chr12:90,691,326...90,705,812
Ensembl chr12:90,691,326...90,705,812
G
Ephx2
epoxide hydrolase 2, cytoplasmic
ISO
RGD
PMID:22007192
RGD:5688391
NCBI chr14:66,321,821...66,361,971
Ensembl chr14:66,321,823...66,361,949
G
F3
coagulation factor III
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:12417540
RGD:2313865
NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
G
Fabp2
fatty acid binding protein 2, intestinal
ISO
RGD
PMID:16919542
RGD:1626401
NCBI chr 3:122,688,721...122,693,155
Ensembl chr 3:122,688,721...122,693,155
G
Fabp4
fatty acid binding protein 4, adipocyte
ISO
protein:increased expression:serum
RGD
PMID:16919044
RGD:1625406
NCBI chr 3:10,269,406...10,273,653
Ensembl chr 3:10,269,148...10,273,636
G
Fadd
Fas associated via death domain
ISO
protein:increased expression:heart left ventricle
RGD
PMID:23657904
RGD:11344884
NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200
G
Fas
Fas cell surface death receptor
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:11934685
RGD:628329
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
G
Fasn
fatty acid synthase
ameliorates
IEP ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438 PMID:27821167 PMID:31353547
RGD:329333017 , RGD:401799622 , RGD:401850595
NCBI chr11:120,696,784...120,715,992
Ensembl chr11:120,696,672...120,715,373
G
Fgf15
fibroblast growth factor 15
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28673684
NCBI chr 7:144,450,269...144,454,690
Ensembl chr 7:144,450,268...144,454,690
G
Fgf21
fibroblast growth factor 21
treatment
IDA
RGD
PMID:25306889
RGD:10401890
NCBI chr 7:45,263,314...45,264,914
Ensembl chr 7:45,263,310...45,264,914
G
Fto
FTO alpha-ketoglutarate dependent dioxygenase
ISO
DNA:SNPs: :rs1421085, rs1558902, rs8050136, rs9939609 (human) DNA:SNP: :rs9939973 (human)
RGD
PMID:21796137 PMID:32061761
RGD:329853776 , RGD:329901771
NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067
G
G6pc1
glucose-6-phosphatase catalytic subunit 1
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr11:101,258,542...101,268,729
Ensembl chr11:101,258,387...101,268,729
G
G6pdx
glucose-6-phosphate dehydrogenase X-linked
treatment
ISO
RGD
PMID:19374165 PMID:24868532
RGD:2307350 , RGD:10449117
NCBI chr X:73,453,089...73,472,486
Ensembl chr X:73,453,089...73,472,800
G
Gcg
glucagon
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 2:62,304,874...62,313,997
Ensembl chr 2:62,304,874...62,313,994
G
Gch1
GTP cyclohydrolase 1
treatment
ISO
RGD
PMID:34200262
RGD:329970293
NCBI chr14:47,391,352...47,426,870
Ensembl chr14:47,391,352...47,426,870
G
Gck
glucokinase
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr11:5,850,816...5,900,081
Ensembl chr11:5,850,820...5,900,081
G
Gckr
glucokinase regulatory protein
ISO
RGD
PMID:19861489
RGD:7242423
NCBI chr 5:31,454,594...31,484,646
Ensembl chr 5:31,454,787...31,484,658
G
Ggt1
gamma-glutamyltransferase 1
susceptibility
ISO
RGD
PMID:17095717 PMID:24847614
RGD:1601300 , RGD:14747015
NCBI chr10:75,396,910...75,422,027
Ensembl chr10:75,397,438...75,422,034
G
Ghrl
ghrelin
ISO
associated with Kidney Diseases;protein:decreased expression:serum DNA:polymorphisms 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 PMID:18996292 PMID:16204371 PMID:18552255 More...
RGD:2313748 , RGD:1625021 , RGD:7242555
NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
G
Gpr17
G protein-coupled receptor 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34144038
NCBI chr18:32,076,052...32,082,925
Ensembl chr18:32,076,050...32,082,689
G
Gpx3
glutathione peroxidase 3
ISO
protein:increased expression:serum
RGD
PMID:24819036
RGD:401827122
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
G
Gsn
gelsolin
severity
IMP
RGD
PMID:29684438
RGD:329333017
NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904
G
Gstm1
glutathione S-transferase, mu 1
ISO
RGD
PMID:29452132
RGD:14700976
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
G
Hdac3
histone deacetylase 3
ISO
RGD
PMID:21763752
RGD:9590183
NCBI chr18:38,070,024...38,088,073
Ensembl chr18:38,068,897...38,088,069
G
Hgf
hepatocyte growth factor
ISO
RGD
PMID:15713721
RGD:1642702
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
G
Hmga1
high mobility group AT-hook 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23512162
NCBI chr17:27,774,798...27,782,649
Ensembl chr17:27,775,471...27,782,648
G
Hmgcr
3-hydroxy-3-methylglutaryl-Coenzyme A reductase
ameliorates
ISO IEP
RGD
PMID:19461650 PMID:27821167 PMID:31353547
RGD:5508692 , RGD:401799622 , RGD:401850595
NCBI chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444
G
Hmox1
heme oxygenase 1
treatment
ISO
RGD
PMID:22193921
RGD:10763276
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
G
Hnf4a
hepatic nuclear factor 4, alpha
ISO
RGD
PMID:16804065
RGD:1601642
NCBI chr 2:163,348,731...163,414,827
Ensembl chr 2:163,348,728...163,414,830
G
Hp
haptoglobin
treatment
ISO
protein:increased expression
RGD
PMID:17007284 PMID:20508159
RGD:1626341 , RGD:11041859
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
G
Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
susceptibility disease_progression
ISO
DNA:SNP:: (rs846910) (human) DNA:SNPs:5'utr,enhancer: (rs846910,rs12086634) (human) DNA:SNP: (rs12086634)T>G (human) mRNA:increased expression:ascending aorta,epicardial fat (human)
RGD
PMID:14697232 PMID:28750217 PMID:21622477 PMID:23869418 PMID:23007990
RGD:1625074 , RGD:329901909 , RGD:329901919 , RGD:329901929 , RGD:329901930
NCBI chr 1:192,903,917...192,946,345
Ensembl chr 1:192,903,942...192,946,383
G
Htr2c
5-hydroxytryptamine (serotonin) receptor 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17632216 PMID:18515891 PMID:19142101
NCBI chr X:145,745,509...145,980,273
Ensembl chr X:145,745,509...145,980,273
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:19394054
RGD:2313467
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
G
Idh2
isocitrate dehydrogenase 2 (NADP+), mitochondrial
susceptibility
IMP
RGD
PMID:31064654
RGD:14985252
NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140
G
Igf2
insulin-like growth factor 2
ISO
DNA:insertion
RGD
PMID:18418699
RGD:2311520
NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553
G
Igfbp2
insulin-like growth factor binding protein 2
ISO
RGD
PMID:16915540
RGD:1626481
NCBI chr 1:72,863,650...72,891,633
Ensembl chr 1:72,863,662...72,891,633
G
Il18
interleukin 18
treatment
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16644639 PMID:19717152 PMID:24456735
RGD:4889401 , RGD:8655985
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16644639
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
Il6ra
interleukin 6 receptor, alpha
susceptibility
ISO
DNA:polymorphism: :p.D358A
RGD
PMID:16817825
RGD:1625430
NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
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 7:101,471,839...101,487,419
Ensembl chr 7:101,471,839...101,487,436
G
Ins2
insulin II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11274935 PMID:16259526
NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
G
Insr
insulin receptor
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617
G
Irs1
insulin receptor substrate 1
ameliorates
ISO IDA
protein:decreased expression:skeletal muscle
RGD
PMID:10842668 PMID:31353547
RGD:6482864 , RGD:401850595
NCBI chr 1:82,210,826...82,269,160
Ensembl chr 1:82,210,822...82,269,137
G
Irs2
insulin receptor substrate 2
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 8:11,034,681...11,058,929
Ensembl chr 8:11,034,681...11,058,458
G
Itgav
integrin alpha V
ISO
RGD
PMID:16784924
RGD:1627640
NCBI chr 2:83,554,796...83,637,261
Ensembl chr 2:83,554,741...83,637,260
G
Kl
klotho
ISO IMP
mRNA:decreased expression:kidney:
RGD
PMID:11027545 PMID:11027545
RGD:10403056 , RGD:10403056
NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282
G
Lbp
lipopolysaccharide binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349936
NCBI chr 2:158,148,413...158,174,772
Ensembl chr 2:158,148,413...158,174,772
G
Ldlr
low density lipoprotein receptor
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215
G
Lep
leptin
ISO
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 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
G
Lepr
leptin receptor
ISO
DNA:mutations:cds: : (rat) DNA:mutations::cds: : (rat)
RGD
PMID:32710530 PMID:28746409 PMID:10901178
RGD:401960103 , RGD:401965413 , RGD:401965414
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
G
Lipe
lipase, hormone sensitive
IEP
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438
RGD:329333017
NCBI chr 7:25,078,952...25,097,911
Ensembl chr 7:25,078,952...25,098,135
G
Lipg
lipase, endothelial
ISO
RGD
PMID:16354105
RGD:1580865
NCBI chr18:75,072,393...75,095,380
Ensembl chr18:75,072,393...75,094,334
G
Lmna
lamin A
ISO
DNA:SNP: :c.138747C>T (human)
RGD
PMID:15205219
RGD:2306121
NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263
G
Lrp6
low density lipoprotein receptor-related protein 6
ISO
DNA:missense mutation:cds
RGD
PMID:17332414
RGD:2298725
NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928
G
Lrpap1
low density lipoprotein receptor-related protein associated protein 1
susceptibility
ISO
associated with Coronary Disease;DNA:SNP:exon
RGD
PMID:14557872
RGD:1581921
NCBI chr 5:35,248,834...35,263,043
Ensembl chr 5:35,248,845...35,263,110
G
Map2k2
mitogen-activated protein kinase kinase 2
ISO
mRNA:decreased expression:blood, leukocyte (human)
RGD
PMID:26956845
RGD:155791561
NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809
G
Mir122
microRNA 122
ISO
miRNA:increased expression:serum
RGD
PMID:27899485
RGD:14401601
NCBI chr18:65,381,932...65,381,997
Ensembl chr18:65,381,932...65,381,997
G
Mlxipl
MLX interacting protein-like
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr 5:135,118,744...135,168,622
Ensembl chr 5:135,118,744...135,167,236
G
Mtmr9
myotubularin related protein 9
ISO
DNA:SNP: :rs2293855 (human)
RGD
PMID:21796137
RGD:329853776
NCBI chr14:63,757,100...63,781,402
Ensembl chr14:63,757,100...63,781,431
G
Mttp
microsomal triglyceride transfer protein
ISO
ClinVar Annotator: match by term: Metabolic syndrome X
ClinVar
PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 PMID:25741868 PMID:27578136 PMID:28492532 PMID:30522860 PMID:33258201 More...
NCBI chr 3:137,795,616...137,849,179
Ensembl chr 3:137,795,615...137,850,729
G
Nampt
nicotinamide phosphoribosyltransferase
ISO
DNA:repeats:intron protein:increased expression:plasma
RGD
PMID:15922301 PMID:17556870
RGD:1642345 , RGD:1642337
NCBI chr12:32,870,334...32,903,368
Ensembl chr12:32,869,544...32,903,348
G
Neil1
nei endonuclease VIII-like 1 (E. coli)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16446448 PMID:17389588
NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589
G
Ngf
nerve growth factor
ISO
RGD
PMID:11935372
RGD:1580935
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
G
Nnmt
nicotinamide N-methyltransferase
ISO
mRNA,protein:increased expression,increased activity:adipose tissue (rat)
RGD
PMID:25719492
RGD:401793724
NCBI chr 9:48,448,905...48,518,958
Ensembl chr 9:48,503,177...48,516,453
G
Nos3
nitric oxide synthase 3, endothelial cell
treatment
ISO
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 PMID:28967023 More...
RGD:13450928 , RGD:13461762
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
G
Nox1
NADPH oxidase 1
ISO
protein:increased expression, increased activity:peripheral blood mononuclear cell (human)
RGD
PMID:16380495
RGD:1580973
NCBI chr X:132,987,170...133,038,455
Ensembl chr X:132,987,170...133,122,705
G
Nr1h3
nuclear receptor subfamily 1, group H, member 3
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr 2:91,014,406...91,033,189
Ensembl chr 2:91,014,406...91,033,179
G
Nr1i2
nuclear receptor subfamily 1, group I, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20869355
NCBI chr16:38,068,711...38,115,211
Ensembl chr16:38,068,685...38,115,186
G
Nr1i3
nuclear receptor subfamily 1, group I, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20869355
NCBI chr 1:171,041,503...171,046,414
Ensembl chr 1:171,041,539...171,048,270
G
Pck1
phosphoenolpyruvate carboxykinase 1, cytosolic
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr 2:172,994,866...173,001,067
Ensembl chr 2:172,994,841...173,001,066
G
Pcsk9
proprotein convertase subtilisin/kexin type 9
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 4:106,299,531...106,321,522
Ensembl chr 4:106,299,526...106,321,526
G
Pde9a
phosphodiesterase 9A
treatment
IMP
RGD
PMID:34618683
RGD:242170038
NCBI chr17:31,605,079...31,695,284
Ensembl chr17:31,605,184...31,695,284
G
Pla2g4a
phospholipase A2, group IVA (cytosolic, calcium-dependent)
ISO
mRNA:decreased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr 1:149,705,369...149,837,041
Ensembl chr 1:149,705,369...149,837,041
G
Pla2g6
phospholipase A2, group VI
ISO
mRNA:decreased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr15:79,170,428...79,212,915
Ensembl chr15:79,170,428...79,212,590
G
Pla2g7
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
ISO
mRNA:increased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
G
Plat
plasminogen activator, tissue
ISO
protein:increased expression:serum
RGD
PMID:18249307
RGD:2311664
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
G
Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21573798 PMID:14602783
RGD:1642618
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
G
Ppara
peroxisome proliferator activated receptor alpha
ameliorates
ISO IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:11934685 PMID:31353547
RGD:628329 , RGD:401850595
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
G
Pparg
peroxisome proliferator activated receptor gamma
no_association ameliorates
ISO IEP
DNA:SNP: :p.P12A (human)
RGD
PMID:18959602 PMID:16183630 PMID:16186413 PMID:31353547
RGD:2301843 , RGD:1580683 , RGD:1580686 , RGD:401850595
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
G
Ppargc1a
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
ISO
mRNA:decreased expression:gastrocnemius muscle (rat)
RGD
PMID:20383225
RGD:10059661
NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068
G
Prkaa2
protein kinase, AMP-activated, alpha 2 catalytic subunit
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 4:104,886,846...104,967,095
Ensembl chr 4:104,887,071...104,967,087
G
Prl
prolactin
ISO
RGD
PMID:16303834
RGD:1642558
NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:liver
RGD
PMID:17883899
RGD:1642586
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
G
Rbp4
retinol binding protein 4, plasma
disease_progression
ISO
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 chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
G
Reg1
regenerating islet-derived 1
treatment
ISO
RGD
PMID:21685239
RGD:10044029
NCBI chr 6:78,402,966...78,405,651
Ensembl chr 6:78,399,694...78,405,650
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 chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110
G
Scd1
stearoyl-Coenzyme A desaturase 1
ameliorates
ISO IEP
RGD
PMID:27821167 PMID:31353547
RGD:401799622 , RGD:401850595
NCBI chr19:44,382,889...44,396,148
Ensembl chr19:44,382,894...44,396,318
G
Scg3
secretogranin III
ISO
DNA:SNP: :rs3764220 (human)
RGD
PMID:21796137
RGD:329853776
NCBI chr 9:75,550,648...75,591,733
Ensembl chr 9:75,550,471...75,591,338
G
Selp
selectin, platelet
ISO
RGD
PMID:19061719
RGD:2312292
NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
G
Serpina12
serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
treatment
ISO
human protein in a mouse model
RGD
PMID:16030142
RGD:1547845
NCBI chr12:103,995,028...104,010,702
Ensembl chr12:103,995,028...104,010,702
G
Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
treatment
ISO
RGD
PMID:26084260
RGD:11073736
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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 chr11:69,501,108...69,508,852
Ensembl chr11:69,505,630...69,508,731
G
Sim1
single-minded family bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: SIM1-associated metabolic syndrome
ClinVar
NCBI chr10:50,770,794...50,865,252
Ensembl chr10:50,770,850...50,865,248
G
Sirt1
sirtuin 1
treatment
ISO
protein:decreased expression:hippocampus (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20068143 PMID:21514307 PMID:25356430
RGD:9585758 , RGD:10053569
NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
G
Slc27a1
solute carrier family 27 (fatty acid transporter), member 1
susceptibility
IAGP
DNA:gene knockout::Slc27a1-/- mice resistant to diet-induced obesity and metabolic syndrome
RGD
PMID:16611988
RGD:1642790
NCBI chr 8:72,021,372...72,039,951
Ensembl chr 8:72,021,526...72,039,946
G
Slc2a1
solute carrier family 2 (facilitated glucose transporter), member 1
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180
G
Slc2a4
solute carrier family 2 (facilitated glucose transporter), member 4
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr11:69,833,112...69,839,040
Ensembl chr11:69,833,365...69,839,014
G
Soat2
sterol O-acyltransferase 2
susceptibility
ISO
DNA:SNPs
RGD
PMID:14557872
RGD:1581921
NCBI chr15:102,058,853...102,071,871
Ensembl chr15:102,058,961...102,071,904
G
Sod2
superoxide dismutase 2, mitochondrial
treatment
IEP
RGD
PMID:28875871
RGD:26923956
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
G
Srebf1
sterol regulatory element binding transcription factor 1
disease_progression ameliorates
IEP ISO
protein:increased expression:liver (mouse) mRNA:increased expression:liver (rat)
RGD
PMID:29173234 PMID:11934685 PMID:31353547
RGD:401827867 , RGD:628329 , RGD:401850595
NCBI chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407
G
Tgfb1
transforming growth factor, beta 1
ISO
mRNA:increased expression:left heart ventricle
RGD
PMID:18692559
RGD:2306739
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
G
Thbd
thrombomodulin
ISO
associated with Diabetic Nephropathies;protein:increased expression:plasma
RGD
PMID:16567841
RGD:1601641
NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
G
Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:24441717
RGD:10450604
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
ISO
associated with obesity;protein:increased expression:plasma
RGD
PMID:17200772
RGD:1624178
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
G
Trf
transferrin
susceptibility
ISO
protein:increased expression:serum
RGD
PMID:17416791
RGD:1601514
NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
G
Trib3
tribbles pseudokinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18497449
NCBI chr 2:152,179,345...152,185,980
Ensembl chr 2:152,179,342...152,185,952
G
Ucp2
uncoupling protein 2 (mitochondrial, proton carrier)
ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:11934685
RGD:628329
NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227
G
Ucp3
uncoupling protein 3 (mitochondrial, proton carrier)
treatment
ISO
RGD
PMID:11934685
RGD:628329
NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639
G
Vcam1
vascular cell adhesion molecule 1
ISO
RGD
PMID:18718174
RGD:2313109
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
G
Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:plasma:
RGD
PMID:22206010
RGD:7483588
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
G
Vwf
Von Willebrand factor
ISO
protein:increased expression:plasma
RGD
PMID:16764036
RGD:1625709
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
G
Ctf1
cardiotrophin 1
IAGP
MouseDO
NCBI chr 7:127,311,872...127,317,360
Ensembl chr 7:127,311,908...127,317,364
G
Gucy2c
guanylate cyclase 2c
IAGP
MouseDO
NCBI chr 6:136,674,282...136,758,740
Ensembl chr 6:136,674,282...136,758,763
G
Lep
leptin
IAGP
MouseDO
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
G
Neil1
nei endonuclease VIII-like 1 (E. coli)
IAGP
MouseDO
NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589
G
Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309680
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
G
Pparg
peroxisome proliferator activated receptor gamma
IAGP
MouseDO
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
G
Ppargc1a
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
ISO
mRNA:increased expression:gastrocnemius muscle (rat)
RGD
PMID:23320128
RGD:7241841
NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068
G
Prkci
protein kinase C, iota
IAGP
MouseDO
NCBI chr 3:31,049,893...31,106,889
Ensembl chr 3:31,049,896...31,107,108
G
Sirt3
sirtuin 3
IAGP
MouseDO
NCBI chr 7:140,443,576...140,462,222
Ensembl chr 7:140,443,579...140,462,222
G
Slc2a9
solute carrier family 2 (facilitated glucose transporter), member 9
IAGP
MouseDO
NCBI chr 5:38,506,616...38,660,488
Ensembl chr 5:38,506,616...38,660,486
G
Atp2a2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ISO
protein:increased oxidation:cardiac muscle cell
RGD
PMID:23997093
RGD:13782087
NCBI chr 5:122,591,576...122,640,288
Ensembl chr 5:122,591,576...122,640,288
G
Bax
BCL2-associated X protein
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
G
Bcl2
B cell leukemia/lymphoma 2
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
G
Fadd
Fas associated via death domain
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200
G
Fas
Fas cell surface death receptor
ISO
RGD
PMID:30172001
RGD:13792561
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
G
Lep
leptin
IAGP
OMIM:605552
MouseDO
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
G
Lpl
lipoprotein lipase
treatment
ISO
RGD
PMID:26996629
RGD:13794382
NCBI chr 8:69,333,207...69,359,584
Ensembl chr 8:69,333,143...69,360,100
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 PMID:25741868 PMID:27578136 PMID:28492532 PMID:30522860 PMID:33258201 More...
NCBI chr 3:137,795,616...137,849,179
Ensembl chr 3:137,795,615...137,850,729
G
Tlr2
toll-like receptor 2
susceptibility
IMP
RGD
PMID:19841034
RGD:15090861
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
G
Trp53inp1
transformation related protein 53 inducible nuclear protein 1
IAGP
OMIM:605552
MouseDO
NCBI chr 4:11,156,441...11,174,379
Ensembl chr 4:11,156,431...11,174,379
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 4:132,738,797...132,805,421
Ensembl chr 4:132,738,571...132,805,421
G
Dyrk1b
dual-specificity tyrosine phosphorylation regulated kinase 1b
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: DYRK1B-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:28492532 PMID:32041611 More...
NCBI chr 7:27,878,880...27,896,896
Ensembl chr 7:27,878,894...27,886,719
G
Cela2a
chymotrypsin-like elastase family, member 2A
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4
OMIM ClinVar
PMID:25741868 PMID:31358993
NCBI chr 4:141,542,265...141,553,316
Ensembl chr 4:141,542,273...141,553,471
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all