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
related_synonym: METABOLIC SYNDROME, SUSCEPTIBILITY TO
primary_id: MESH:D024821
For additional species annotation, visit the
Alliance of Genome Resources .
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 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
G
Acadvl
acyl-CoA dehydrogenase, very long chain
treatment
IDA
RGD
PMID:25191539
RGD:10047118
NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
G
Acat2
acetyl-CoA acetyltransferase 2
susceptibility
ISO
DNA:polymorphism
RGD
PMID:14557872
RGD:1581921
NCBI chr 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653
G
Adipoq
adiponectin, C1Q and collagen domain containing
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
PMID:16793964 PMID:17618945 PMID:18162013 PMID:20833989 , PMID:19690575 , PMID:17893004 , PMID:21625822 , PMID:21976521
RGD:2313234 , RGD:5686800 , RGD:5686428 , RGD:5686407
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
G
Adrb2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphisms: :p.R16G, p.Q27E
RGD GAD
PMID:14557466 , PMID:15118671
RGD:1601127 , RGD:1331525
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
G
Agt
angiotensinogen
IEP
mRNA, protein:increased expression:adipose tissue
RGD
PMID:17260464
RGD:1601134
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
G
Agtr1a
angiotensin II receptor, type 1a
susceptibility
ISO
DNA:snp:3' utr:c.5186A>C
RGD
PMID:17211857
RGD:1601146
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
G
Akp3
alkaline phosphatase 3, intestine, not Mn requiring
ISO
RGD
PMID:23569246
RGD:14349049
NCBI chr 9:94,228,960...94,232,001
Ensembl chr 9:94,228,960...94,232,001
G
Aldoa
aldolase, fructose-bisphosphate A
IEP
mRNA:increased expression:aorta
RGD
PMID:21890532
RGD:13673877
NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
G
Alpl
alkaline phosphatase, biomineralization associated
susceptibility
ISO
protein:increased expression:serum
RGD
PMID:16249437
RGD:1601174
NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
G
Apoa1
apolipoprotein A1
IEP ISO
protein:decreased expression DNA: polymorphism: :G2, G3 and G5
RGD
PMID:17217166 , PMID:21410987
RGD:1601183 , RGD:5508220
NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
G
Apoa2
apolipoprotein A2
ISO
protein:decreased expression:serum
RGD
PMID:19817643
RGD:2313955
NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
G
Apoa5
apolipoprotein A5
susceptibility
ISO
DNA:polymorphism: :p.S19W (human)
RGD
PMID:18789138
RGD:2313315
NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
G
Apob
apolipoprotein B
ISO
protein:increased expression:plasma
RGD
PMID:16828905
RGD:1601198
NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
G
Apoc3
apolipoprotein C3
susceptibility
IEP ISO
protein:increased expression:serum DNA:polymorphism:promoter:-482C>T, -455T>C
RGD
PMID:16298371 , PMID:17416293
RGD:2306766 , RGD:1601223
NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
G
Apom
apolipoprotein M
ISO
protein:decreased expression:plasma
RGD
PMID:19539616
RGD:2314236
NCBI chr20:5,120,473...5,123,073
Ensembl chr20:5,120,474...5,123,073
G
Atm
ATM serine/threonine kinase
ISO
RGD
PMID:17084711
RGD:1601248
NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
G
Atp12a
ATPase H+/K+ transporting non-gastric alpha2 subunit
IEP
RGD
PMID:23320804
RGD:13838660
NCBI chr15:36,561,306...36,590,171
Ensembl chr15:36,565,495...36,590,171
G
Bche
butyrylcholinesterase
ISO
protein:increased expression:serum
RGD
PMID:15907830
RGD:1601317
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
G
Bdnf
brain-derived neurotrophic factor
ISO
RGD
PMID:11935372
RGD:1580935
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
G
Bglap
bone gamma-carboxyglutamate protein
ISO
protein:decreased expression:serum
RGD
PMID:21760737
RGD:6483594
NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
G
C3
complement C3
ISO
RGD
PMID:16488421
RGD:2314030
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
G
Capn10
calpain 10
ISO
DNA:polymorphism
RGD
PMID:16546286
RGD:1625050
NCBI chr 9:100,104,000...100,112,833
Ensembl chr 9:100,104,000...100,112,832
G
Cck
cholecystokinin
ISO
RGD
PMID:17443025
RGD:1625798
NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392
G
Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16188961 PMID:18486454
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
G
Ccl5
C-C motif chemokine ligand 5
IEP
protein:increased secretion:plasma (rat)
RGD
PMID:19905967
RGD:4889977
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
G
Cd36
CD36 molecule
ISO IAGP
DNA:SNPs: :multiple (human)
RGD
PMID:18305138 , PMID:9916795
RGD:2307208 , RGD:619666
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:16423632 , PMID:20006362
RGD:2314214 , RGD:5490591
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
G
Cela2a
chymotrypsin like elastase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31358993
NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
G
Chek2
checkpoint kinase 2
IEP
mRNA:increased expression:heart left ventricle (rat)
RGD
PMID:25129990
RGD:10400905
NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
G
Ciita
class II, major histocompatibility complex, transactivator
ISO
DNA:polymorphism:promoter:-168A>G (human)
RGD
PMID:17183695
RGD:5491201
NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
G
Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16644639 , PMID:21357282
RGD:6482318
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
G
Cst3
cystatin C
ISO
protein:increased expression:serum (human)
RGD
PMID:19887833
RGD:2314295
NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
G
Cyba
cytochrome b-245 alpha chain
IEP
RGD
PMID:16741160
RGD:2317864
NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
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 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
G
Dgat1
diacylglycerol O-acyltransferase 1
treatment
ISO
RGD
PMID:21990351
RGD:10401057
NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
G
Dio2
iodothyronine deiodinase 2
ISO
DNA:polymorphism: :p.T92A (human)
RGD
PMID:18198294
RGD:2313696
NCBI chr 6:114,475,156...114,489,443
Ensembl chr 6:114,476,142...114,476,723
G
Ephx2
epoxide hydrolase 2
IMP
RGD
PMID:22007192
RGD:5688391
NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
G
F3
coagulation factor III, tissue factor
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:12417540
RGD:2313865
NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
G
Fabp2
fatty acid binding protein 2
ISO
RGD
PMID:16919542
RGD:1626401
NCBI chr 2:227,080,912...227,083,654
Ensembl chr 2:227,080,924...227,083,501
G
Fabp4
fatty acid binding protein 4
ISO
protein:increased expression:serum
RGD
PMID:16919044
RGD:1625406
NCBI chr 2:93,792,666...93,797,267
Ensembl chr 2:93,792,601...93,797,305
G
Fadd
Fas associated via death domain
IEP
protein:increased expression:heart left ventricle
RGD
PMID:23657904
RGD:11344884
NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
G
Fgf19
fibroblast growth factor 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28673684
NCBI chr 1:218,058,405...218,061,693
Ensembl chr 1:218,058,405...218,061,693
G
Fgf21
fibroblast growth factor 21
treatment
ISO
RGD
PMID:25306889
RGD:10401890
NCBI chr 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822
G
G6pd
glucose-6-phosphate dehydrogenase
treatment
IEP
RGD
PMID:19374165 , PMID:24868532
RGD:2307350 , RGD:10449117
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
G
Gckr
glucokinase regulator
ISO
RGD
PMID:19861489
RGD:7242423
NCBI chr 6:26,355,296...26,385,761
Ensembl chr 6:26,355,296...26,385,761
G
Ggt1
gamma-glutamyltransferase 1
susceptibility
ISO
RGD
PMID:17095717 , PMID:24847614
RGD:1601300 , RGD:14747015
NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
G
Ghrl
ghrelin and obestatin prepropeptide
ISO
DNA:polymorphisms ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to In peritoneal dialysis patients associated with Kidney Diseases;protein:decreased expression:serum
ClinVar
PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 , PMID:16204371 , PMID:18552255 , PMID:18996292
RGD:1625021 , RGD:7242555 , RGD:2313748
NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
G
Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:29452132
RGD:14700976
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
G
Hdac3
histone deacetylase 3
IEP
RGD
PMID:21763752
RGD:9590183
NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
G
Hgf
hepatocyte growth factor
ISO
RGD
PMID:15713721
RGD:1642702
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
G
Hmga1
high mobility group AT-hook 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23512162
NCBI chr20:7,132,501...7,140,155
Ensembl chr20:7,136,007...7,138,980
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
IMP
RGD
PMID:19461650
RGD:5508692
NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
G
Hmox1
heme oxygenase 1
treatment
IEP
RGD
PMID:22193921
RGD:10763276
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
G
Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
RGD
PMID:16804065
RGD:1601642
NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
G
Hp
haptoglobin
treatment
ISO IDA
protein:increased expression
RGD
PMID:17007284 , PMID:20508159
RGD:1626341 , RGD:11041859
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
G
Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
IEP
RGD
PMID:14697232
RGD:1625074
NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
G
Htr2c
5-hydroxytryptamine receptor 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17632216 PMID:18515891 PMID:19142101
NCBI chr X:118,084,520...118,318,040
Ensembl chr X:118,084,890...118,318,039
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:19394054
RGD:2313467
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
susceptibility
ISO
RGD
PMID:31064654
RGD:14985252
NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
G
Igf2
insulin-like growth factor 2
IAGP
DNA:insertion
RGD
PMID:18418699
RGD:2311520
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
G
Igfbp2
insulin-like growth factor binding protein 2
ISO
RGD
PMID:16915540
RGD:1626481
NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
G
Il18
interleukin 18
treatment
IEP ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD
PMID:16644639 , PMID:19717152 , PMID:24456735
RGD:4889401 , RGD:8655985
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16644639
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Il6r
interleukin 6 receptor
susceptibility
ISO
DNA:polymorphism: :p.D358A
RGD
PMID:16817825
RGD:1625430
NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
G
Inppl1
inositol polyphosphate phosphatase-like 1
ISO
DNA:SNPs: :rs2276047,snp8(human) CTD Direct Evidence: marker/mechanism
CTD
PMID:15220217 , PMID:15220217
RGD:1626127
NCBI chr 1:166,898,177...166,912,524
Ensembl chr 1:166,899,894...166,912,524
G
Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11274935 PMID:16259526
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
G
Irs1
insulin receptor substrate 1
IEP
protein:decreased expression:skeletal muscle
RGD
PMID:10842668
RGD:6482864
NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
G
Itgav
integrin subunit alpha V
ISO
RGD
PMID:16784924
RGD:1627640
NCBI chr 3:71,113,269...71,205,958
Ensembl chr 3:71,114,100...71,202,411
G
Kl
Klotho
IEP ISO
mRNA:decreased expression:kidney:
RGD
PMID:11027545 , PMID:11027545
RGD:10403056 , RGD:10403056
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
G
Lbp
lipopolysaccharide binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349936
NCBI chr 3:154,786,232...154,812,910
Ensembl chr 3:154,786,215...154,813,464
G
Lep
leptin
ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma (rat)
CTD
PMID:16793964 PMID:18515891 , PMID:19462476 , PMID:25380250
RGD:2311125 , RGD:10053625
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
G
Lipg
lipase G, endothelial type
ISO
RGD
PMID:16354105
RGD:1580865
NCBI chr18:70,903,528...70,924,434
Ensembl chr18:70,901,710...70,924,708
G
Lmna
lamin A/C
ISO
DNA:SNP: :c.138747C>T (human)
RGD
PMID:15205219
RGD:2306121
NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
G
Lrp6
LDL receptor related protein 6
ISO
DNA:missense mutation:cds
RGD
PMID:17332414
RGD:2298725
NCBI chr 4:168,194,054...168,323,962
Ensembl chr 4:168,194,927...168,323,751
G
Lrpap1
LDL receptor related protein associated protein 1
susceptibility
ISO
associated with Coronary Disease;DNA:SNP:exon
RGD
PMID:14557872
RGD:1581921
NCBI chr14:80,911,281...80,923,290
Ensembl chr14:80,911,270...80,924,831
G
Mir122
microRNA 122
ISO
miRNA:increased expression:serum
RGD
PMID:27899485
RGD:14401601
NCBI chr18:60,755,285...60,755,369
G
Nampt
nicotinamide phosphoribosyltransferase
ISO IAGP
protein:increased expression:plasma DNA:repeats:intron
RGD
PMID:17556870 , PMID:15922301
RGD:1642337 , RGD:1642345
NCBI chr 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472
G
Neil1
nei-like DNA glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16446448 PMID:17389588
NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
G
Ngf
nerve growth factor
ISO
RGD
PMID:11935372
RGD:1580935
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
G
Nos3
nitric oxide synthase 3
treatment
ISO IDA IMP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
CTD ClinVar
PMID:12947532 PMID:15269839 PMID:20876122 PMID:28361419 , PMID:28967023 , PMID:29127233
RGD:13461762 , RGD:13450928
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
G
Nox1
NADPH oxidase 1
ISO
protein:increased expression, increased activity:peripheral blood mononuclear cell (human)
RGD
PMID:16380495
RGD:1580973
NCBI chr X:104,909,328...104,932,508
Ensembl chr X:104,909,326...104,932,508
G
Nr1i2
nuclear receptor subfamily 1, group I, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20869355
NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
G
Nr1i3
nuclear receptor subfamily 1, group I, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20869355
NCBI chr13:89,585,072...89,591,278
Ensembl chr13:89,586,283...89,591,277
G
Pla2g4a
phospholipase A2 group IVA
IEP
mRNA:decreased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
G
Pla2g6
phospholipase A2 group VI
IEP
mRNA:decreased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
G
Pla2g7
phospholipase A2 group VII
IEP
mRNA:increased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
G
Plat
plasminogen activator, tissue type
ISO
protein:increased expression:serum
RGD
PMID:18249307
RGD:2311664
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
G
Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21573798 , PMID:14602783
RGD:1642618
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
G
Pparg
peroxisome proliferator-activated receptor gamma
no_association
ISO IDA
DNA:SNP: :p.P12A (human)
RGD
PMID:18959602 , PMID:16186413 , PMID:16183630
RGD:2301843 , RGD:1580686 , RGD:1580683
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
G
Ppargc1a
PPARG coactivator 1 alpha
IEP
mRNA:decreased expression:gastrocnemius muscle (rat)
RGD
PMID:20383225
RGD:10059661
NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
G
Prl
prolactin
ISO
RGD
PMID:16303834
RGD:1642558
NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
G
Ptgs2
prostaglandin-endoperoxide synthase 2
IEP
protein:increased expression:liver
RGD
PMID:17883899
RGD:1642586
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
G
Reg1a
regenerating family member 1 alpha
treatment
IDA
RGD
PMID:21685239
RGD:10044029
NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
G
Retn
resistin
ISO
DNA:SNP:promoter:-420G>C (rs1862513) (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:18328350 , PMID:17598818
RGD:7207155
NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
G
Selp
selectin P
ISO
RGD
PMID:19061719
RGD:2312292
NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
G
Serpina12
serpin family A member 12
treatment
ISO
human protein in a mouse model
RGD
PMID:16030142
RGD:1547845
NCBI chr 6:127,696,501...127,711,238
Ensembl chr 6:127,696,252...127,711,212
G
Serpine1
serpin family E member 1
treatment
IDA
RGD
PMID:26084260
RGD:11073736
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
G
Shbg
sex hormone binding globulin
ISO
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism
CTD
PMID:16968811 PMID:17992261 , PMID:17884445
RGD:2313785
NCBI chr10:56,219,861...56,237,354
Ensembl chr10:56,219,858...56,223,245
G
Sirt1
sirtuin 1
treatment
IDA ISO IEP
CTD Direct Evidence: marker/mechanism protein:decreased expression:hippocampus (rat)
CTD
PMID:20068143 , PMID:21514307 , PMID:25356430
RGD:9585758 , RGD:10053569
NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
G
Slc27a1
solute carrier family 27 member 1
susceptibility
ISO
RGD
PMID:16611988
RGD:1642790
NCBI chr16:19,997,823...20,016,193
Ensembl chr16:19,999,112...20,016,190
G
Soat2
sterol O-acyltransferase 2
susceptibility
ISO
DNA:SNPs
RGD
PMID:14557872
RGD:1581921
NCBI chr 7:143,754,892...143,767,989
Ensembl chr 7:143,754,892...143,767,989
G
Sod2
superoxide dismutase 2
treatment
ISO
RGD
PMID:28875871
RGD:26923956
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
G
Tf
transferrin
susceptibility
ISO
protein:increased expression:serum
RGD
PMID:17416791
RGD:1601514
NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
G
Tgfb1
transforming growth factor, beta 1
IEP
mRNA:increased expression:left heart ventricle
RGD
PMID:18692559
RGD:2306739
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
G
Thbd
thrombomodulin
ISO
associated with Diabetic Nephropathies;protein:increased expression:plasma
RGD
PMID:16567841
RGD:1601641
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
G
Tnf
tumor necrosis factor
treatment
IEP
RGD
PMID:24441717
RGD:10450604
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
associated with obesity;protein:increased expression:plasma
RGD
PMID:17200772
RGD:1624178
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
G
Trib3
tribbles pseudokinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18497449
NCBI chr 3:147,814,056...147,819,650
Ensembl chr 3:147,813,473...147,819,571
G
Vcam1
vascular cell adhesion molecule 1
IEP
RGD
PMID:18718174
RGD:2313109
NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
G
Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:plasma:
RGD
PMID:22206010
RGD:7483588
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
G
Vwf
von Willebrand factor
ISO
protein:increased expression:plasma
RGD
PMID:16764036
RGD:1625709
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
G
Ctf1
cardiotrophin 1
ISS
MouseDO
NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
G
Gucy2c
guanylate cyclase 2C
ISS
MouseDO
NCBI chr 4:170,659,993...170,740,274
Ensembl chr 4:170,659,998...170,740,274
G
Lep
leptin
ISS
MouseDO
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
G
Neil1
nei-like DNA glycosylase 1
ISS
MouseDO
NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
G
Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309680
NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
G
Pparg
peroxisome proliferator-activated receptor gamma
ISS
MouseDO
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
G
Ppargc1a
PPARG coactivator 1 alpha
IEP
mRNA:increased expression:gastrocnemius muscle (rat)
RGD
PMID:23320128
RGD:7241841
NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
G
Prkci
protein kinase C, iota
ISS
MouseDO
NCBI chr 2:115,941,998...116,002,550
Ensembl chr 2:115,941,993...116,002,561
G
Sirt3
sirtuin 3
ISS
MouseDO
NCBI chr 1:213,613,502...213,636,061
Ensembl chr 1:213,613,513...213,635,546
G
Atp2a2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
IDA
protein:increased oxidation:cardiac muscle cell
RGD
PMID:23997093
RGD:13782087
NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
G
Bax
BCL2 associated X, apoptosis regulator
treatment
IEP
RGD
PMID:27131981
RGD:13792503
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
G
Bcl2
BCL2, apoptosis regulator
treatment
IEP
RGD
PMID:27131981
RGD:13792503
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
G
Fadd
Fas associated via death domain
treatment
IEP
RGD
PMID:27131981
RGD:13792503
NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
G
Fas
Fas cell surface death receptor
IEP
RGD
PMID:30172001
RGD:13792561
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
G
Lep
leptin
ISS
OMIM:605552
MouseDO
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
G
Lpl
lipoprotein lipase
treatment
IDA
RGD
PMID:26996629
RGD:13794382
NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
G
Mttp
microsomal triglyceride transfer protein
ISO
ClinVar Annotator: match by term: Metabolic syndrome, protection against
ClinVar OMIM
PMID:16721486
NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
G
Tlr2
toll-like receptor 2
susceptibility
ISO
RGD
PMID:19841034
RGD:15090861
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
G
Tp53inp1
tumor protein p53 inducible nuclear protein 1
ISS
OMIM:605552
MouseDO
NCBI chr 5:24,402,895...24,419,651
Ensembl chr 5:24,410,863...24,416,888
G
Ahdc1
AT hook, DNA binding motif, containing 1
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3
ClinVar
PMID:25741868
NCBI chr 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165
G
Dyrk1b
dual specificity tyrosine phosphorylation regulated kinase 1B
ISO
ClinVar Annotator: match by OMIM:615812
OMIM ClinVar
PMID:24827035
NCBI chr 1:85,112,819...85,120,840
Ensembl chr 1:85,112,247...85,120,839
G
Cela2a
chymotrypsin like elastase 2A
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4
OMIM ClinVar
PMID:31358993
NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
G
Lipe
lipase E, hormone sensitive type
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4
ClinVar
PMID:25741868
NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all