RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Insulin Resistance
Accession: DOID:9007692
browse the term
Definition: Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.
Synonyms: exact_synonym: Insulin Sensitivity
narrow_synonym: Insulin Resistance Syndrome, Type A
related_synonym: FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF; Insulin Resistance, Susceptibility To; Serum hdl cholesterol level, modifier of
primary_id: MESH:D007333 ; RDO:0003504
xref: EFO:0002614
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ACACA
acetyl-CoA carboxylase alpha
treatment
ISO
RGD
PMID:16485039 PMID:26394137
RGD:1625727 , RGD:329955565
NCBI chr17:37,084,992...37,406,836
Ensembl chr17:37,084,992...37,406,836
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ACACB
acetyl-CoA carboxylase beta
treatment
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22658938 PMID:16485039 PMID:26394137
RGD:1625727 , RGD:329955565
NCBI chr12:109,111,189...109,268,226
Ensembl chr12:109,116,587...109,268,226
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ACE
angiotensin I converting enzyme
IEA
GAD
PMID:15118671
RGD:1331525
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ACP1
acid phosphatase 1
ISO
associated with Obesity
RGD
PMID:17353188
RGD:2313180
NCBI chr 2:264,947...278,283
Ensembl chr 2:264,140...278,283
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ACSL1
acyl-CoA synthetase long chain family member 1
IEP
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:16788709
RGD:1625735
NCBI chr 4:184,755,595...184,826,594
Ensembl chr 4:184,755,595...184,826,818
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ADIPOQ
adiponectin, C1Q and collagen domain containing
treatment
ISO EXP
CTD Direct Evidence: therapeutic associated with Hypertension
CTD RGD
PMID:18931039 PMID:21484566 PMID:16041833 PMID:23089228 PMID:21872431
RGD:1599150 , RGD:8695951 , RGD:8695928
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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ADIPOR1
adiponectin receptor 1
resistance
IAGP
associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C
RGD
PMID:17285539
RGD:1625762
NCBI chr 1:202,940,825...202,958,572
Ensembl chr 1:202,940,826...202,958,572
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ADIPOR2
adiponectin receptor 2
treatment
ISO
RGD
PMID:30225267 PMID:24797033
RGD:21406435 , RGD:25824940
NCBI chr12:1,691,070...1,788,674
Ensembl chr12:1,688,574...1,788,674
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ADM
adrenomedullin
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:33491863
NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
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ADORA1
adenosine A1 receptor
treatment
IMP ISO
associated with Obesity
RGD
PMID:11703426 PMID:15220221
RGD:2313807 , RGD:1625243
NCBI chr 1:203,127,726...203,167,405
Ensembl chr 1:203,090,654...203,167,405
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ADRA1B
adrenoceptor alpha 1B
susceptibility
ISO
RGD
PMID:14581480 PMID:14581480
RGD:1625772 , RGD:1625772
NCBI chr 5:159,865,086...159,989,205
Ensembl chr 5:159,865,080...159,973,012
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ADRB2
adrenoceptor beta 2
ISO EXP IAGP
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :p.R16G
CTD RGD
PMID:19034036 PMID:11510954 PMID:15699455
RGD:1598757 , RGD:1601125
NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
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ADRB3
adrenoceptor beta 3
no_association
IAGP
DNA:missense mutation:cds:p.W64R rs4994 (human) associated with Obesity;DNA:polymorphism: :p.W64R (human)
RGD
PMID:10421225 PMID:10582543 PMID:17299491
RGD:1559326 , RGD:5684421 , RGD:2313158
NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
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AGTR2
angiotensin II receptor type 2
ISO
protein:increased expression:dorsal root ganglion, neuron
RGD
PMID:22357959
RGD:6903873
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
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AHR
aryl hydrocarbon receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25734695
NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
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AHSG
alpha 2-HS glycoprotein
susceptibility
IEP ISO
protein:increased expression:plasma
RGD
PMID:17011519 PMID:16567827 PMID:17011519
RGD:1625793 , RGD:1625794 , RGD:1625793
NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318
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AKT2
AKT serine/threonine kinase 2
no_association
IAGP
DNA:SNPs
RGD
PMID:17327441
RGD:1601155
NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536
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ALDH2
aldehyde dehydrogenase 2 family member
treatment
ISO
protein:altered expression, altered activity:liver (rat)
RGD
PMID:28688179
RGD:14981582
NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
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ALOX15
arachidonate 15-lipoxygenase
ISO
RGD
PMID:19787041
RGD:5509625
NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294
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ANKRD26
ankyrin repeat domain containing 26
ISO
RGD
PMID:18162531
RGD:9681744
NCBI chr10:26,947,582...27,100,494
Ensembl chr10:26,973,793...27,100,494
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APLN
apelin
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:17594060
RGD:1626170
NCBI chr X:129,645,259...129,654,956
Ensembl chr X:129,645,259...129,654,956
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APOA2
apolipoprotein A2
ISO
RGD
PMID:11246886
RGD:2313957
NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,290...161,223,631
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APOC1
apolipoprotein C1
IMP
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:11723061
RGD:2313951
NCBI chr19:44,914,325...44,919,346
Ensembl chr19:44,914,247...44,919,349
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APOC3
apolipoprotein C3
susceptibility treatment
ISO
RGD
PMID:15734841 PMID:15007394
RGD:1601226 , RGD:1580750
NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
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AR
androgen receptor
IDA EXP IAGP
CTD Direct Evidence: marker/mechanism associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG
CTD RGD
PMID:21444647 PMID:17332526 PMID:16793958
RGD:1601244 , RGD:2306773
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
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ARG1
arginase 1
ISO
protein:decreased activity:liver (rat)
RGD
PMID:20593143
RGD:4142796
NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
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AS3MT
arsenite methyltransferase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr10:102,869,470...102,901,899
Ensembl chr10:102,869,470...102,901,899
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ATM
ATM serine/threonine kinase
treatment
ISO IAGP
protein:decreased expression:muscle: Associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNP:intron: (rs11212617) (human)
RGD
PMID:18534819 PMID:23171036
RGD:8693659 , RGD:126781688
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
IDA
mRNA:increased expression:skeletal muscle
RGD
PMID:14576983
RGD:1601252
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
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BAD
BCL2 associated agonist of cell death
ISO
protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart
RGD
PMID:21385329
RGD:10053645
NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
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BCHE
butyrylcholinesterase
IEP
RGD
PMID:17917325
RGD:2306776
NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
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BDKRB1
bradykinin receptor B1
ISO
RGD
PMID:17618300 PMID:17988733
RGD:5129217 , RGD:5129214
NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967
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BSCL2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
RGD
PMID:25934999
RGD:11085488
NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
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C1R
complement C1r
IEP
protein:increased expression:adipocyte
RGD
PMID:17244723
RGD:1600551
NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
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C3
complement C3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18615583
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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CAPN10
calpain 10
IAGP
DNA:SNP:intron:rs3792267 (human)
RGD
PMID:11018080
RGD:7247736
NCBI chr 2:240,586,734...240,599,104
Ensembl chr 2:240,586,734...240,617,705
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CASP1
caspase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22325453
NCBI chr11:105,025,443...105,036,686
Ensembl chr11:105,025,397...105,035,250
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CASP3
caspase 3
treatment
ISO
RGD
PMID:29748970
RGD:13782289
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
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CASP8
caspase 8
ISO
RGD
PMID:29748970
RGD:13782289
NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
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CAT
catalase
IMP
associated with Obesity
RGD
PMID:19188683
RGD:5130761
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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CBLB
Cbl proto-oncogene B
ISO
RGD
PMID:17601987
RGD:2314038
NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552
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CCL2
C-C motif chemokine ligand 2
susceptibility
IAGP EXP ISO
associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29035695 PMID:18762729 PMID:22983634
RGD:2306985 , RGD:8548844
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CD163
CD163 molecule
exacerbates
EXP IEP
CTD Direct Evidence: marker/mechanism associated with hepatitis C, human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human)
CTD RGD
PMID:29035695 PMID:26554542
RGD:149735574
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
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CD36
CD36 molecule (CD36 blood group)
ISO EXP
CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Type 2
CTD RGD
PMID:14640889 PMID:11175782 PMID:25477422 PMID:12923231 PMID:15231693
RGD:68930 , RGD:11041132 , RGD:11040926 , RGD:2307217
NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
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CD40
CD40 molecule
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CD68
CD68 molecule
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
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CERS1
ceramide synthase 1
ameliorates
ISO
RGD
PMID:30605666
RGD:156431060
NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727
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CNR1
cannabinoid receptor 1
ISO
associated with Obesity
RGD
PMID:19553924
RGD:2314662
NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347
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CNTF
ciliary neurotrophic factor
TAS
possible therapeutic agent
RGD
PMID:16675997
RGD:1626122
NCBI chr11:58,622,665...58,625,733
Ensembl chr11:58,622,665...58,625,733
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COQ2
coenzyme Q2, polyprenyltransferase
ISO
associated with obesity
RGD
PMID:26296322
RGD:10755343
NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914
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CPB2
carboxypeptidase B2
IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma
RGD
PMID:11836301
RGD:2313645
NCBI chr13:46,053,186...46,105,033
Ensembl chr13:46,053,186...46,105,033
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CPE
carboxypeptidase E
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15358678
NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547
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CST3
cystatin C
IEP
associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human)
RGD
PMID:19765773
RGD:2314305
NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
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CTF1
cardiotrophin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21803294
NCBI chr16:30,895,846...30,903,560
Ensembl chr16:30,896,614...30,903,547
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CYP2R1
cytochrome P450 family 2 subfamily R member 1
IAGP
DNA:SNP:CDS: rs12794714|rs10766197 (human)
RGD
PMID:34906413
RGD:401900724
NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
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DGAT2
diacylglycerol O-acyltransferase 2
treatment
ISO
RGD
PMID:26394137
RGD:329955565
NCBI chr11:75,768,778...75,801,534
Ensembl chr11:75,759,512...75,801,535
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DIO2
iodothyronine deiodinase 2
IAGP
DNA:SNP: :rs225014, p.T92A (human)
RGD
PMID:11872697
RGD:2313698
NCBI chr14:80,197,526...80,231,057
Ensembl chr14:80,197,526...80,387,757
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DRD1
dopamine receptor D1
ISO
associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule
RGD
PMID:15798088
RGD:2302119
NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
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ECH1
enoyl-CoA hydratase 1
treatment
ISO
RGD
PMID:31961704
RGD:21408561
NCBI chr19:38,815,422...38,831,794
Ensembl chr19:38,815,422...38,831,841
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EGFR
epidermal growth factor receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22238402
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
IAGP
DNA:polymorphism:K121Q ClinVar Annotator: match by term: Insulin resistance, susceptibility to
ClinVar RGD
PMID:10480624 PMID:11739459 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:16025115 PMID:16607460 PMID:16968801 PMID:18950909 PMID:20981035 PMID:25741868 PMID:27238374 PMID:28492532 PMID:29979387 PMID:35738466 PMID:10480624 More...
RGD:1601043
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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F7
coagulation factor VII
severity
IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
RGD
PMID:9187410
RGD:2312406
NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
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FABP2
fatty acid binding protein 2
no_association
IAGP
DNA:polymorphism:CDS:amino acid A54T, in healthy, moderately overweight subjects in Baton Rouge ClinVar Annotator: match by term: FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF DNA:SNP:CDS:p.A54T (human) DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups DNA:polymorphism:CDS:p.A54T (human)
ClinVar RGD
PMID:7883976 PMID:9253345 PMID:10946885 PMID:10999802 PMID:12161503 PMID:14666368 PMID:15572430 PMID:25741868 PMID:16311100 PMID:7883976 PMID:17211557 PMID:14981227 More...
RGD:1578456 , RGD:1300314 , RGD:1626407 , RGD:1626400
NCBI chr 4:119,317,250...119,322,138
Ensembl chr 4:119,317,250...119,322,138
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FABP3
fatty acid binding protein 3
severity
ISO
RGD
PMID:16249436
RGD:1578459
NCBI chr 1:31,359,588...31,373,076
Ensembl chr 1:31,365,253...31,376,850
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FABP4
fatty acid binding protein 4
ISO
RGD
PMID:17391165
RGD:1625407
NCBI chr 8:81,478,419...81,483,233
Ensembl chr 8:81,478,419...81,483,236
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FANCA
FA complementation group A
ISO
RGD
PMID:22482891
RGD:11046266
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
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FANCC
FA complementation group C
ISO
RGD
PMID:22482891
RGD:11046266
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
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FAS
Fas cell surface death receptor
treatment
ISO
associated with hypothalamic disease
RGD
PMID:29522769
RGD:13792596
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FASN
fatty acid synthase
treatment
ISO
RGD
PMID:26394137
RGD:329955565
NCBI chr17:82,078,338...82,098,236
Ensembl chr17:82,078,338...82,098,294
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FGF19
fibroblast growth factor 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28673684
NCBI chr11:69,698,238...69,704,022
Ensembl chr11:69,698,238...69,704,022
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FIS1
fission, mitochondrial 1
ISO
protein:increased expression:liver (rat)
RGD
PMID:24663492
RGD:12453042
NCBI chr 7:101,239,472...101,245,081
Ensembl chr 7:101,239,458...101,252,316
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FOXC2
forkhead box C2
IAGP
DNA:polymorphism:5'ut:-512C>T
RGD
PMID:12453913
RGD:1601219
NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728
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FOXO1
forkhead box O1
ISO
mRNA:increased expression:adipose tissue:
RGD
PMID:16041833
RGD:1599150
NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
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FTO
FTO alpha-ketoglutarate dependent dioxygenase
IAGP ISO
associated with diabetes mellitus;DNA:SNP: :rs9939609 (human) mRNA, protein:increased expression:liver DNA:SNPs, haplotype: :rs1121980, rs1558902, rs9939609 (human) associated with obesity;DNA:SNP:intron:rs17817449 (human)
RGD
PMID:30273662 PMID:35945320 PMID:20075932 PMID:21919686
RGD:329812018 , RGD:329951016 , RGD:329853775 , RGD:329812040
NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
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FXN
frataxin
IAGP
DNA:repeats:intron:GAA (human)
RGD
PMID:10969848
RGD:2307049
NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
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G6PD
glucose-6-phosphate dehydrogenase
ISO
associated with Obesity;protein:increased expression:pancreas
RGD
PMID:23015612
RGD:10449129
NCBI chr X:154,531,390...154,547,569
Ensembl chr X:154,517,825...154,547,572
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GCK
glucokinase
ISO
protein:increased expression:pancreatic islet
RGD
PMID:19039094
RGD:7488970
NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
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GFPT1
glutamine--fructose-6-phosphate transaminase 1
IDA
RGD
PMID:11118009
RGD:1625423
NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250
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GH1
growth hormone 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21559284
NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
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GNAS
GNAS complex locus
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17062894
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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GNB3
G protein subunit beta 3
IAGP
DNA:polymorphism: :825C>T (human)
RGD
PMID:12624279
RGD:1580411
NCBI chr12:6,840,925...6,847,393
Ensembl chr12:6,839,954...6,847,393
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GPAM
glycerol-3-phosphate acyltransferase, mitochondrial
treatment
ISO
RGD
PMID:26394137
RGD:329955565
NCBI chr10:112,149,865...112,227,677
Ensembl chr10:112,149,865...112,215,377
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GPR17
G protein-coupled receptor 17
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34144038
NCBI chr 2:127,646,153...127,652,639
Ensembl chr 2:127,645,864...127,652,639
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GPX3
glutathione peroxidase 3
EXP ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma
CTD RGD
PMID:19270708 PMID:24361363
RGD:401827920
NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
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GRK2
G protein-coupled receptor kinase 2
ISO
RGD
PMID:15994203
RGD:1625791
NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556
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GSTA4
glutathione S-transferase alpha 4
IEP
mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human)
RGD
PMID:20150287
RGD:5687771
NCBI chr 6:52,977,953...52,995,284
Ensembl chr 6:52,977,948...52,995,304
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GYS1
glycogen synthase 1
susceptibility
IAGP
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human)
RGD
PMID:9267990
RGD:2313176
NCBI chr19:48,968,130...48,993,309
Ensembl chr19:48,968,130...48,993,310
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HAMP
hepcidin antimicrobial peptide
ISO
mRNA:decreased expression:liver
RGD
PMID:17350134
RGD:1601515
NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
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HMGA1
high mobility group AT-hook 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23512162
NCBI chr 6:34,236,873...34,246,231
Ensembl chr 6:34,236,873...34,246,231
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HMOX1
heme oxygenase 1
IEP EXP
mRNA:decreased expression:muscle:defective protection against oxidative stress CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:18375438 PMID:19171794 PMID:12941774
RGD:1601621
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HNF1A
HNF1 homeobox A
IEP IAGP
mRNA:decreased expression:adipocyte ClinVar Annotator: match by term: SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF
ClinVar RGD
PMID:8945470 PMID:9112026 PMID:9287053 PMID:9604876 PMID:10333057 PMID:10588527 PMID:10634407 PMID:10852449 PMID:12627330 PMID:12675668 PMID:12788852 PMID:15031772 PMID:15761192 PMID:15928245 PMID:16963153 PMID:17033837 PMID:17192490 PMID:17407072 PMID:17425917 PMID:17440016 PMID:17573900 PMID:17937063 PMID:18332101 PMID:18498634 PMID:18811724 PMID:20031592 PMID:24728327 PMID:24933231 PMID:25741868 PMID:26467025 PMID:27130141 PMID:28492532 PMID:29895593 PMID:31109344 PMID:33363396 PMID:35328643 PMID:15094374 More...
RGD:1601482
NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512
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HSD11B1
hydroxysteroid 11-beta dehydrogenase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21786805
NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
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HSPD1
heat shock protein family D (Hsp60) member 1
ISO
RGD
PMID:18948349
RGD:10402862
NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
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HTR2A
5-hydroxytryptamine receptor 2A
IMP
associated with Peripheral Vascular Diseases
RGD
PMID:17062970
RGD:1624367
NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
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ICAM1
intercellular adhesion molecule 1
IEP
associated with Obesity;protein:increased secretion:plasma (human) protein:increased expression:serum
RGD
PMID:11782876 PMID:19394054
RGD:1625753 , RGD:2313467
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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IGF2BP2
insulin like growth factor 2 mRNA binding protein 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr 3:185,643,130...185,825,042
Ensembl chr 3:185,643,130...185,825,042
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IGFALS
insulin like growth factor binding protein acid labile subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17726072
NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971
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IGFBP2
insulin like growth factor binding protein 2
IMP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22537059 PMID:17259371
RGD:1626479
NCBI chr 2:216,632,828...216,664,436
Ensembl chr 2:216,632,828...216,664,436
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IGFBP3
insulin like growth factor binding protein 3
IDA
RGD
PMID:17237715
RGD:2313762
NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
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IGFBP6
insulin like growth factor binding protein 6
IDA
human transgene overexpressed in mouse brain
RGD
PMID:15889232
RGD:2301717
NCBI chr12:53,097,667...53,102,340
Ensembl chr12:53,097,436...53,102,345
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IGFBP7
insulin like growth factor binding protein 7
IEP ISO
protein:increased expression:serum associated with metabolic dysfunction-associated steatotic liver disease
RGD
PMID:16873698 PMID:31397492
RGD:1626516 , RGD:401960873
NCBI chr 4:57,030,773...57,110,385
Ensembl chr 4:57,030,773...57,110,385
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IKBKB
inhibitor of nuclear factor kappa B kinase subunit beta
treatment
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29036520 PMID:19073766
RGD:7495768
NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460
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IL18
interleukin 18
treatment
IEP ISO
associated with Graves Disease
RGD
PMID:23257837 PMID:16732281
RGD:8655938 , RGD:14695532
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
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IL1B
interleukin 1 beta
treatment
ISO
associated with Obesity;mRNA:increased expression:adipose tissue associated with hypothalamic disease
RGD
PMID:16865359 PMID:29522769
RGD:1626632 , RGD:13792596
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL6
interleukin 6
ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat) mRNA:increased expression:islet of Langerhans
RGD
PMID:19328014 PMID:21826222
RGD:2307252 , RGD:10402828
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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IL6R
interleukin 6 receptor
IEP
protein:decreased expression:serum
RGD
PMID:14962155
RGD:1625431
NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
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IL7
interleukin 7
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:20376352
NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523
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INPPL1
inositol polyphosphate phosphatase like 1
ISO
associated with Metabolic Syndrome X
RGD
PMID:17327370 PMID:12453826
RGD:2312440 , RGD:2312442
NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
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INS
insulin
IEP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11522680 PMID:24648896 PMID:25796170 PMID:33651899 PMID:3322910
RGD:2311112
NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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INS-IGF2
INS-IGF2 readthrough
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19586609
NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209
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INSR
insulin receptor
disease_progression treatment
ISO IAGP EXP
ClinVar Annotator: match by term: Insulin-resistance syndrome type A ClinVar Annotator: match by term: Insulin resistance | ClinVar Annotator: match by term: Insulin-resistance syndrome type A mRNA, protein:decreased expression:liver (rat) CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1314826 PMID:1644241 PMID:1890161 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 PMID:2121734 PMID:2203761 PMID:2211730 PMID:2365819 PMID:2460770 PMID:2544997 PMID:2544998 PMID:2662406 PMID:2859121 PMID:2983222 PMID:3283938 PMID:3384956 PMID:3510919 PMID:6339538 PMID:7042734 PMID:7657032 PMID:8096518 PMID:8202531 PMID:8257688 PMID:8288049 PMID:8314008 PMID:8432414 PMID:8900242 PMID:10084586 PMID:10933564 PMID:10949030 PMID:11463381 PMID:11887975 PMID:13302174 PMID:15161766 PMID:19135752 PMID:22775283 PMID:23705494 PMID:24033266 PMID:25741868 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:28765322 PMID:30663027 PMID:31989990 PMID:35000900 PMID:10949030 PMID:26300412 PMID:23538485 More...
RGD:1302523 , RGD:11529553 , RGD:10403037
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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IRS1
insulin receptor substrate 1
IAGP EXP
DNA:polymorphism:exon:G972R CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD ClinVar RGD
PMID:1311924 PMID:7623569 PMID:8104271 PMID:8647950 PMID:10084586 PMID:10430617 PMID:10591678 PMID:10843189 PMID:12843189 PMID:14671192 PMID:14707024 PMID:15240653 PMID:19734900 PMID:7623569 More...
RGD:1624973
NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
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IRS2
insulin receptor substrate 2
IAGP EXP
DNA:polymorphism:exon:G1057D CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25808216 PMID:15811564
RGD:1625025
NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583
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ITGAM
integrin subunit alpha M
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
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KCNJ11
potassium inwardly rectifying channel subfamily J member 11
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9032110
NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331
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KCNMB1
potassium calcium-activated channel subfamily M regulatory beta subunit 1
ISO
mRNA, protein:decreased expression:aorta, mesenteric artery
RGD
PMID:21425425
RGD:10412047
NCBI chr 5:170,374,671...170,389,367
Ensembl chr 5:170,374,671...170,389,634
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KLF11
KLF transcription factor 11
IAGP
RGD
PMID:18505768
RGD:2311539
NCBI chr 2:10,043,550...10,054,836
Ensembl chr 2:10,042,849...10,054,836
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KLF14
KLF transcription factor 14
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29632379
NCBI chr 7:130,730,697...130,734,207
Ensembl chr 7:130,730,697...130,734,207
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KLK1
kallikrein 1
IDA
RGD
PMID:17272402
RGD:1641794
NCBI chr19:50,819,146...50,823,787
Ensembl chr19:50,819,146...50,823,787
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LEP
leptin
ISO EXP IEP
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism|therapeutic DNA:nonsense mutation:cds: associated with Obesity
CTD RGD
PMID:10753628 PMID:11342529 PMID:24150608 PMID:29650965 PMID:19296906 PMID:23800849 PMID:19419916 More...
RGD:5128697 , RGD:8549777 , RGD:2311127
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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LEPR
leptin receptor
IAGP EXP ISO
associated with Obesity;DNA:missense mutation:CDS:p.K656N (human) CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:CDS:p.K656N (human)
CTD RGD
PMID:19452630 PMID:20567778 PMID:25367288 PMID:28611668 PMID:29988851 PMID:30689673 PMID:18413223 PMID:23154293 PMID:18632178 More...
RGD:2311142 , RGD:13432147 , RGD:2311138
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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LIPC
lipase C, hepatic type
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15504970
NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844
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LMNA
lamin A/C
IAGP
ClinVar Annotator: match by term: Insulin-resistance syndrome type A
ClinVar
PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 More...
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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LOC129391047
MPRA-validated peak3314 silencer
IAGP
ClinVar Annotator: match by term: Insulin-resistance syndrome type A
ClinVar
PMID:25741868
NCBI chr19:7,113,365...7,113,565
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LPIN1
lipin 1
IEP
RGD
PMID:17563064
RGD:1641822
NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409
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LPL
lipoprotein lipase
ISO
RGD
PMID:18952837
RGD:2313300
NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
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LTA
lymphotoxin alpha
no_association
IAGP
DNA:polymorphism
RGD
PMID:9245742
RGD:1625035
NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
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MAPK3
mitogen-activated protein kinase 3
treatment
ISO
associated with polycystic ovary syndrome
RGD
PMID:23349861
RGD:13800789
NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
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MC4R
melanocortin 4 receptor
EXP ISO
CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expression:liver (rat) DNA:nonsense mutation:cds:p.K314X (rat)
CTD RGD
PMID:18454146 PMID:35945320 PMID:24400148
RGD:329951016 , RGD:13825242
NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775
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METRNL
meteorin like, glial cell differentiation regulator
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:30213948
NCBI chr17:83,079,609...83,095,122
Ensembl chr17:83,079,609...83,095,122
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METTL14
methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr 4:118,685,392...118,715,430
Ensembl chr 4:118,685,392...118,715,433
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MFN2
mitofusin 2
treatment
ISO
RGD
PMID:24715199
RGD:13204838
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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MIF
macrophage migration inhibitory factor
IEP
protein:increased expression:plasma
RGD
PMID:12552367
RGD:1641955
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
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MIR125A
microRNA 125a
ISO
RGD
PMID:31988048
RGD:21403676
NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
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MIR155
microRNA 155
IEP ISO
miRNA:increased expression:serum
RGD
PMID:29479888 PMID:27711113
RGD:24922220 , RGD:25671464
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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MIR222
microRNA 222
IEP
associated with polycystic ovary syndrome; RNA:increased expression:blood
RGD
PMID:33230470
RGD:151893462
NCBI chr X:45,747,015...45,747,124
Ensembl chr X:45,747,015...45,747,124
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MLXIPL
MLX interacting protein like
treatment
ISO
RGD
PMID:26394137
RGD:329955565
NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
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MLYCD
malonyl-CoA decarboxylase
treatment
ISO
RGD
PMID:26394137
RGD:329955565
NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445
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MRC1
mannose receptor C-type 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr10:17,809,348...17,911,164
Ensembl chr10:17,809,348...17,911,164
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NAMPT
nicotinamide phosphoribosyltransferase
IEP
associated with Polycystic Ovary Syndrome;protein:increased expression:serum
RGD
PMID:17582143
RGD:1642341
NCBI chr 7:106,248,298...106,285,888
Ensembl chr 7:106,248,298...106,285,966
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NEIL1
nei like DNA glycosylase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21285402
NCBI chr15:75,347,039...75,357,115
Ensembl chr15:75,346,955...75,357,115
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NFE2L2
NFE2 like bZIP transcription factor 2
IEP EXP
associated with obesity; protein:decreased expression:hepatocyte: CTD Direct Evidence: therapeutic
CTD RGD
PMID:33933676 PMID:32102936
RGD:21201281
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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NLRP3
NLR family pyrin domain containing 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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NOS2
nitric oxide synthase 2
ISO
mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat)
RGD
PMID:22023455 PMID:21846719
RGD:5509041 , RGD:5509075
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NOS3
nitric oxide synthase 3
treatment
ISO EXP
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:11457755 PMID:12716763 PMID:12947532 PMID:19008412 PMID:18298918 PMID:28946194 More...
RGD:2292098 , RGD:13450950
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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NPPB
natriuretic peptide B
IEP
associated with Obesity and Hypertension;protein:decreased expression:serum
RGD
PMID:17392814
RGD:1642192
NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
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NR1H4
nuclear receptor subfamily 1 group H member 4
susceptibility
ISO
RGD
PMID:16557297
RGD:1625076
NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
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NR4A1
nuclear receptor subfamily 4 group A member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17785466
NCBI chr12:52,022,832...52,059,503
Ensembl chr12:52,022,832...52,059,507
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NR4A3
nuclear receptor subfamily 4 group A member 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17785466
NCBI chr 9:99,821,885...99,866,891
Ensembl chr 9:99,821,855...99,866,891
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NUS1
NUS1 dehydrodolichyl diphosphate synthase subunit
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:33812996
NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727
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PARL
presenilin associated rhomboid like
ISO
mRNA:decreased expression:gastrocnemius (rat)
RGD
PMID:19859837
RGD:12880442
NCBI chr 3:183,826,489...183,884,880
Ensembl chr 3:183,829,271...183,884,933
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PDX1
pancreatic and duodenal homeobox 1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:pancreatic islet (mouse) protein:increased expression:pancreatic duct (rat)
RGD
PMID:18288891 PMID:16046294
RGD:2311222 , RGD:2311223
NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313
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PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
IDA EXP ISO
associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14714311 PMID:16332940 PMID:10426374 PMID:17283057
RGD:1625212 , RGD:1625262 , RGD:1625211
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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PKLR
pyruvate kinase L/R
treatment
ISO
mRNA, protein:decreased expression:liver
RGD
PMID:12958186 PMID:26394137
RGD:1625583 , RGD:329955565
NCBI chr 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438
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PLA2G1B
phospholipase A2 group IB
susceptibility
ISO
RGD
PMID:12376327
RGD:1302550
NCBI chr12:120,322,115...120,327,779
Ensembl chr12:120,322,115...120,327,779
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PLAC8
placenta associated 8
ISO
associated with obesity
RGD
PMID:26296322
RGD:10755343
NCBI chr 4:83,090,048...83,114,729
Ensembl chr 4:83,059,493...83,137,075
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PLEKHS1
pleckstrin homology domain containing S1
ISO
associated with obesity;
RGD
PMID:27523322
RGD:11532750
NCBI chr10:113,751,682...113,783,429
Ensembl chr10:113,751,262...113,783,429
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PLIN2
perilipin 2
ISO
associated with Obesity
RGD
PMID:17484887
RGD:1625752
NCBI chr 9:19,108,388...19,127,492
Ensembl chr 9:19,108,375...19,149,290
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PLTP
phospholipid transfer protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754275
NCBI chr20:45,898,620...45,912,155
Ensembl chr20:45,898,621...45,912,155
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PMCH
pro-melanin concentrating hormone
ISO
RGD
PMID:16002548
RGD:1642484
NCBI chr12:102,196,459...102,197,833
Ensembl chr12:102,196,459...102,197,833
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PON1
paraoxonase 1
IAGP
DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001)
RGD
PMID:11788650
RGD:1642617
NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
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PPARA
peroxisome proliferator activated receptor alpha
ISO EXP
CTD Direct Evidence: therapeutic
CTD RGD
PMID:16168052 PMID:21324916 PMID:19322024
RGD:5683642
NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
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PPARD
peroxisome proliferator activated receptor delta
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent associated with Obesity
RGD
PMID:19818749 PMID:14676330
RGD:2313780 , RGD:2324897
NCBI chr 6:35,342,558...35,428,178
Ensembl chr 6:35,342,558...35,428,191
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PPARG
peroxisome proliferator activated receptor gamma
IAGP EXP
DNA:nonsense mutation CTD Direct Evidence: therapeutic
CTD RGD
PMID:16168052 PMID:21354099 PMID:21484566 PMID:12118251
RGD:1601446
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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PPARGC1A
PPARG coactivator 1 alpha
treatment
IAGP ISO
DNA:missense mutation:cds:p.G482S rs8192678 (human) mRNA:decreased expression:liver (rat)
RGD
PMID:23449621 PMID:26394137 PMID:22658649
RGD:7241821 , RGD:329955565 , RGD:7242170
NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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PPARGC1B
PPARG coactivator 1 beta
treatment
IEP ISO
RGD
PMID:16896940 PMID:26394137
RGD:1642499 , RGD:329955565
NCBI chr 5:149,730,310...149,857,959
Ensembl chr 5:149,730,298...149,855,022
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PPP1R3A
protein phosphatase 1 regulatory subunit 3A
IAGP
DNA:nonsense mutation ClinVar Annotator: match by term: Insulin resistance, susceptibility to DNA:polymorphism:exon:p.D905Y (human)
ClinVar RGD
PMID:7581368 PMID:25741868 PMID:12118251 PMID:7581368
RGD:1601446 , RGD:1601468
NCBI chr 7:113,876,777...113,919,009
Ensembl chr 7:113,876,777...114,075,920
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PRDX3
peroxiredoxin 3
ISO
associated with obesity;
RGD
PMID:27523322
RGD:11532750
NCBI chr10:119,167,720...119,178,812
Ensembl chr10:119,167,720...119,178,812
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PRKAA1
protein kinase AMP-activated catalytic subunit alpha 1
ISO EXP
associated with Obesity CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19934007 PMID:22231922
RGD:6484545
NCBI chr 5:40,759,389...40,798,374
Ensembl chr 5:40,759,389...40,798,374
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PRKAA2
protein kinase AMP-activated catalytic subunit alpha 2
susceptibility
IAGP EXP
DNA:SNPs CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19934007 PMID:16567511
RGD:1625266
NCBI chr 1:56,645,314...56,715,335
Ensembl chr 1:56,645,314...56,715,335
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PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29367455
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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PRKCB
protein kinase C beta
ISO
RGD
PMID:12665248
RGD:1625515
NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611
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PRKCD
protein kinase C delta
ISO
protein:altered localization:nucleus associated with Obesity;protein:increased activity:adipocyte
RGD
PMID:12217885 PMID:15507533
RGD:729667 , RGD:1642527
NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
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PRKCQ
protein kinase C theta
ISO
protein:altered localization:skeletal muscle associated with Obesity;protein:decreased expression:skeletal muscle
RGD
PMID:9000691 PMID:10923637
RGD:1625604 , RGD:1625603
NCBI chr10:6,394,097...6,580,646
Ensembl chr10:6,427,143...6,580,301
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PRKCZ
protein kinase C zeta
IDA
protein::skeletal muscle:reduced response to insulin in obese and diabetic subjects
RGD
PMID:12882908
RGD:1642650
NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
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PRKD1
protein kinase D1
susceptibility
IMP
human gene in a mouse model
RGD
PMID:25173922
RGD:307436943
NCBI chr14:29,576,479...29,927,847
Ensembl chr14:29,576,479...30,191,898
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PRL
prolactin
IEP
associated with Hyperprolactinemia
RGD
PMID:3888755
RGD:1642560
NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826
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PRMT7
protein arginine methyltransferase 7
IAGP
ClinVar Annotator: match by term: Insulin resistance
ClinVar
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392
NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852
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PTEN
phosphatase and tensin homolog
ISO IEP EXP
protein:increased expression, decreased acetylation:liver protein:increased activity:liver (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18303120 PMID:18385463 PMID:24367090
RGD:2292521 , RGD:127285595
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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PTGDS
prostaglandin D2 synthase
susceptibility
ISO
RGD
PMID:15970590
RGD:1642581
NCBI chr 9:136,977,504...136,981,742
Ensembl chr 9:136,975,092...136,981,742
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PTGIS
prostaglandin I2 synthase
ISO
protein:decreased activity:aorta (rat)
RGD
PMID:16528409
RGD:401960098
NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
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PTK2B
protein tyrosine kinase 2 beta
ISO
associated with Obesity
RGD
PMID:16039993
RGD:1642605
NCBI chr 8:27,310,506...27,459,391
Ensembl chr 8:27,311,482...27,459,391
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PTPN1
protein tyrosine phosphatase non-receptor type 1
IAGP ISO EXP
DNA:insertion:3'utr:1484insG associated with congestive heart failure;protein:increased expression, increased activity:heart (rat) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD ClinVar RGD
PMID:10744717 PMID:11833006 PMID:11833006 PMID:29929988
RGD:1625240 , RGD:401965403
NCBI chr20:50,510,383...50,585,241
Ensembl chr20:50,510,321...50,585,241
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PTPRF
protein tyrosine phosphatase receptor type F
IEP IDA
protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05) protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced
RGD
PMID:9218523 PMID:11309481
RGD:1642733 , RGD:1642735
NCBI chr 1:43,522,051...43,623,666
Ensembl chr 1:43,525,187...43,623,666
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PYY
peptide YY
IAGP
protein:decreased expression
RGD
PMID:17045646
RGD:1625281
NCBI chr17:43,952,733...44,004,445
Ensembl chr17:43,952,733...44,004,469
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RB1
RB transcriptional corepressor 1
IEP
mRNA:decreased expression:adipose tissue
RGD
PMID:23315497
RGD:8547988
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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RBP4
retinol binding protein 4
disease_progression ameliorates
IEP ISO
protein:decreased expression:blood serum (human)
RGD
PMID:29747616 PMID:21365528
RGD:329849113 , RGD:329853304
NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
protein:altered localization:soleus
RGD
PMID:18198644 PMID:18073321
RGD:2298857 , RGD:2298860
NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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RETN
resistin
IEP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16493877 PMID:18789551
RGD:2313499
NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
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RRAD
RRAD, Ras related glycolysis inhibitor and calcium channel regulator
IMP
RGD
PMID:16537411
RGD:2311703
NCBI chr16:66,921,685...66,925,535
Ensembl chr16:66,921,685...66,925,535
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SCD
stearoyl-CoA desaturase
treatment
ISO
RGD
PMID:26394137
RGD:329955565
NCBI chr10:100,347,233...100,364,826
Ensembl chr10:100,347,233...100,364,826
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SELENOP
selenoprotein P
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:14714311
NCBI chr 5:42,799,880...42,811,892
Ensembl chr 5:42,799,880...42,887,392
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SERPINA1
serpin family A member 1
IEP
RGD
PMID:16752182
RGD:1601202
NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
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SERPINE1
serpin family E member 1
treatment
ISO
mRNA:increased expression:white adipose tissue (rat)
RGD
PMID:19776253 PMID:26188590
RGD:8547949 , RGD:11073726
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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SERPINF1
serpin family F member 1
treatment
IEP IDA ISO
associated with Hypertension human protein in a rat model
RGD
PMID:19073347 PMID:22714715 PMID:24288442
RGD:2312339 , RGD:8655563 , RGD:8642993
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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SHC1
SHC adaptor protein 1
IEP
mRNA:increased expression:adipose tissue
RGD
PMID:17986714
RGD:1643171
NCBI chr 1:154,962,298...154,974,376
Ensembl chr 1:154,962,298...154,974,395
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SI
sucrase-isomaltase
ISO
associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine
RGD
PMID:9878708
RGD:1625544
NCBI chr 3:164,978,898...165,090,232
Ensembl chr 3:164,978,898...165,078,496
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SIRT1
sirtuin 1
treatment
ISO EXP
associated with Obesity CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:20068143 PMID:21321189 PMID:24442997 PMID:25849131 PMID:26026874 PMID:19996381 More...
RGD:9585759
NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
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SIRT4
sirtuin 4
ISO
RGD
PMID:20651844
RGD:9586052
NCBI chr12:120,291,780...120,313,249
Ensembl chr12:120,302,316...120,313,249
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SLC27A1
solute carrier family 27 member 1
ISO
protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet
RGD
PMID:17400720
RGD:1642795
NCBI chr19:17,468,767...17,506,168
Ensembl chr19:17,468,769...17,506,168
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SLC27A4
solute carrier family 27 member 4
IEP
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:15168018
RGD:1625638
NCBI chr 9:128,340,527...128,361,470
Ensembl chr 9:128,340,527...128,361,470
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SLC2A3
solute carrier family 2 member 3
IEP
mRNA,protein:decreased expression:muscle
RGD
PMID:11436180
RGD:1642802
NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007
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SLC2A4
solute carrier family 2 member 4
IEP EXP
associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle CTD Direct Evidence: therapeutic
CTD RGD
PMID:11947963 PMID:18778861
RGD:2313624
NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257
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SOCS1
suppressor of cytokine signaling 1
ISO
associated with Diabetes Mellitus
RGD
PMID:15240880
RGD:1625677
NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
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SOCS3
suppressor of cytokine signaling 3
susceptibility
ISO
associated with Diabetes Mellitus associated with Obesity
RGD
PMID:15240880 PMID:17295835
RGD:1625677 , RGD:2313789
NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
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SOD2
superoxide dismutase 2
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:22829583
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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SOD3
superoxide dismutase 3
IEP
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma
RGD
PMID:15171689
RGD:1625698
NCBI chr 4:24,795,573...24,800,842
Ensembl chr 4:24,789,912...24,800,842
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SORBS1
sorbin and SH3 domain containing 1
susceptibility
ISO
RGD
PMID:17351624
RGD:1642731
NCBI chr10:95,311,773...95,561,371
Ensembl chr10:95,311,771...95,561,414
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SOX6
SRY-box transcription factor 6
ISO
RGD
PMID:16148004
RGD:1581307
NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591
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SQSTM1
sequestosome 1
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:33933676
NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078
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SREBF1
sterol regulatory element binding transcription factor 1
susceptibility treatment
IAGP ISO EXP
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP CTD Direct Evidence: marker/mechanism associated with Fatty Liver;mRNA:increased expression:liver
CTD RGD
PMID:22658938 PMID:18692268 PMID:26394137 PMID:17241878
RGD:2308809 , RGD:329955565 , RGD:2308807
NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
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SREBF2
sterol regulatory element binding transcription factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20699619
NCBI chr22:41,833,105...41,907,305
Ensembl chr22:41,833,105...41,907,306
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STK11
serine/threonine kinase 11
ISO
associated with obesity;protein:decreased expression:gastrocnemius
RGD
PMID:16352671
RGD:1601389
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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STS
steroid sulfatase
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:24497646
NCBI chr X:7,147,290...7,354,641
Ensembl chr X:7,147,237...7,804,358
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SYN1
synapsin I
ISO
RGD
PMID:29566703
RGD:13542091
NCBI chr X:47,571,901...47,619,857
Ensembl chr X:47,571,901...47,619,857
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TBC1D4
TBC1 domain family member 4
IAGP
ClinVar Annotator: match by term: Insulin resistance
ClinVar
NCBI chr13:75,283,503...75,482,169
Ensembl chr13:75,283,503...75,482,169
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TCF7L2
transcription factor 7 like 2
IAGP
DNA:SNP (human)
RGD
PMID:19509102
RGD:2312433
NCBI chr10:112,950,247...113,167,678
Ensembl chr10:112,950,247...113,167,678
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TF
transferrin
ISO
protein:increased expression:plasma
RGD
PMID:17350134
RGD:1601515
NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
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TFAP2B
transcription factor AP-2 beta
IDA
RGD
PMID:16373417
RGD:1601544
NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619
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THBD
thrombomodulin
IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:11453033
RGD:2312460
NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
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TLR4
toll like receptor 4
severity
ISO IEP
associated with Obesity protein:increased expression:skeletal muscle
RGD
PMID:19675137 PMID:17426960 PMID:18633101
RGD:2312483 , RGD:1620681 , RGD:2312489
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TNF
tumor necrosis factor
treatment
IAGP ISO EXP
associated with obesity CTD Direct Evidence: marker/mechanism associated with Obesity
CTD RGD
PMID:16493877 PMID:20943792 PMID:16202847 PMID:9832430 PMID:25016878
RGD:1580312 , RGD:14995428 , RGD:10450578
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF11B
TNF receptor superfamily member 11b
IEP
associated with obesity;protein:increased expression:serum
RGD
PMID:15936463
RGD:1620889
NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
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TNFRSF1A
TNF receptor superfamily member 1A
IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression
RGD
PMID:11882518
RGD:1624180
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TRIB3
tribbles pseudokinase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20461355
NCBI chr20:380,760...397,559
Ensembl chr20:362,835...397,559
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TSC1
TSC complex subunit 1
ISO
RGD
PMID:15380067
RGD:1624197
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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UCP1
uncoupling protein 1
IAGP
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human)
RGD
PMID:16338218
RGD:1624979
NCBI chr 4:140,559,431...140,568,961
Ensembl chr 4:140,559,431...140,568,961
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UCP2
uncoupling protein 2
IAGP
DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human)
RGD
PMID:17870627
RGD:2313512
NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,061...73,982,843
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UCP3
uncoupling protein 3
IMP IAGP
DNA:polymorphism:promoter:-55C>T (human)
RGD
PMID:17571165 PMID:17870627
RGD:2313515 , RGD:2313512
NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085
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VCAM1
vascular cell adhesion molecule 1
IEP
RGD
PMID:11882338
RGD:1580351
NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
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VDR
vitamin D receptor
ISO
RGD
PMID:25801026
RGD:14402022
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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VWF
von Willebrand factor
IEP
protein:increased expression:plasma
RGD
PMID:16631442
RGD:1625711
NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
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XBP1
X-box binding protein 1
treatment
ISO EXP
CTD Direct Evidence: therapeutic
CTD RGD
PMID:27325692 PMID:15486293 PMID:26394137
RGD:2326004 , RGD:329955565
NCBI chr22:28,794,560...28,800,569
Ensembl chr22:28,794,555...28,800,597
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ZC3H10
zinc finger CCCH-type containing 10
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:31775033
NCBI chr12:56,118,266...56,127,514
Ensembl chr12:56,118,260...56,127,514
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CTF1
cardiotrophin 1
ISS
MouseDO
NCBI chr16:30,895,846...30,903,560
Ensembl chr16:30,896,614...30,903,547
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GUCY2C
guanylate cyclase 2C
ISS
MouseDO
NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599
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LEP
leptin
ISS
MouseDO
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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NEIL1
nei like DNA glycosylase 1
ISS
MouseDO
NCBI chr15:75,347,039...75,357,115
Ensembl chr15:75,346,955...75,357,115
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PPARA
peroxisome proliferator activated receptor alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309680
NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
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PPARG
peroxisome proliferator activated receptor gamma
ISS
MouseDO
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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PPARGC1A
PPARG coactivator 1 alpha
ISO
mRNA:increased expression:gastrocnemius muscle (rat)
RGD
PMID:23320128
RGD:7241841
NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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PRKCI
protein kinase C iota
ISS
MouseDO
NCBI chr 3:170,222,424...170,305,977
Ensembl chr 3:170,222,424...170,305,977
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SIRT3
sirtuin 3
ISS
MouseDO
NCBI chr11:215,030...236,931
Ensembl chr11:215,030...236,931
G
SLC2A9
solute carrier family 2 member 9
ISS
MouseDO
NCBI chr 4:9,771,025...10,040,270
Ensembl chr 4:9,771,153...10,054,936
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ATP2A2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
ISO
protein:increased oxidation:cardiac muscle cell
RGD
PMID:23997093
RGD:13782087
NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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FADD
Fas associated via death domain
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390
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FAS
Fas cell surface death receptor
ISO
RGD
PMID:30172001
RGD:13792561
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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LEP
leptin
ISS
OMIM:605552
MouseDO
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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LPL
lipoprotein lipase
treatment
ISO
RGD
PMID:26996629
RGD:13794382
NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
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MTTP
microsomal triglyceride transfer protein
IAGP
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1
ClinVar
PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 PMID:25741868 PMID:27578136 PMID:28492532 PMID:30522860 PMID:33258201 More...
NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997
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TLR2
toll like receptor 2
susceptibility
ISO
RGD
PMID:19841034
RGD:15090861
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TP53INP1
tumor protein p53 inducible nuclear protein 1
ISS
OMIM:605552
MouseDO
NCBI chr 8:94,925,972...94,949,378
Ensembl chr 8:94,925,972...94,949,378
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AHDC1
AT-hook DNA binding motif containing 1
IAGP
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3
ClinVar
PMID:25741868 PMID:29696776 PMID:33644933
NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431
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DYRK1B
dual specificity tyrosine phosphorylation regulated kinase 1B
IAGP
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 ClinVar Annotator: match by term: DYRK1B-related condition ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: CENTRAL OBESITY, TYPE 2 DIABETES, HYPERTENSION, AND EARLY-ONSET CORONARY ARTERY DISEASE | ClinVar Annotator: match by term: DYRK1B-related condition
ClinVar OMIM
PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:28492532 PMID:32041611 More...
NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201
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CELA2A
chymotrypsin like elastase 2A
IAGP
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4
OMIM ClinVar
PMID:25741868 PMID:31358993
NCBI chr 1:15,456,732...15,472,091
Ensembl chr 1:15,456,728...15,472,091
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INSR
insulin receptor
IAGP EXP
ClinVar Annotator: match by term: IRAN, TYPE A ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:1644241 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 PMID:2121734 PMID:2203761 PMID:2211730 PMID:2365819 PMID:2460770 PMID:2544997 PMID:2544998 PMID:2662406 PMID:2859121 PMID:2983222 PMID:3283938 PMID:3384956 PMID:3510919 PMID:6339538 PMID:7042734 PMID:7657032 PMID:8096518 PMID:8257688 PMID:8288049 PMID:8314008 PMID:8432414 PMID:8900242 PMID:10084586 PMID:10933564 PMID:11463381 PMID:13302174 PMID:15161766 PMID:19135752 PMID:22775283 PMID:23705494 PMID:24033266 PMID:25741868 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:28765322 PMID:30663027 PMID:31989990 PMID:35000900 More...
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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LMNA
lamin A/C
IAGP
ClinVar Annotator: match by term: IRAN, TYPE A
ClinVar
PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 More...
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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LOC129391047
MPRA-validated peak3314 silencer
IAGP
ClinVar Annotator: match by term: IRAN, TYPE A
ClinVar
PMID:25741868
NCBI chr19:7,113,365...7,113,565
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ABCA1
ATP binding cassette subfamily A member 1
susceptibility
IAGP
DNA:SNP:exon:p.R230C (rs9282541) (human)
RGD
PMID:17287470
RGD:1601092
NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
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ACACA
acetyl-CoA carboxylase alpha
ameliorates
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438 PMID:27821167
RGD:329333017 , RGD:401799622
NCBI chr17:37,084,992...37,406,836
Ensembl chr17:37,084,992...37,406,836
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ACACB
acetyl-CoA carboxylase beta
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438
RGD:329333017
NCBI chr12:109,111,189...109,268,226
Ensembl chr12:109,116,587...109,268,226
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ACADVL
acyl-CoA dehydrogenase very long chain
treatment
ISO
RGD
PMID:25191539
RGD:10047118
NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
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ACAT2
acetyl-CoA acetyltransferase 2
susceptibility
IAGP
DNA:polymorphism
RGD
PMID:14557872
RGD:1581921
NCBI chr 6:159,762,045...159,779,112
Ensembl chr 6:159,762,045...159,779,112
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ADIPOQ
adiponectin, C1Q and collagen domain containing
IAGP EXP IEP ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human) CTD Direct Evidence: marker/mechanism associated with vascular diseases; protein:decreased expression:plasma protein:decreased expression:serum
CTD RGD
PMID:16793964 PMID:17618945 PMID:18162013 PMID:20833989 PMID:19690575 PMID:17893004 PMID:21625822 PMID:21976521 More...
RGD:2313234 , RGD:5686800 , RGD:5686428 , RGD:5686407
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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ADRB2
adrenoceptor beta 2
susceptibility
IAGP IEA
DNA:polymorphisms: :p.R16G, p.Q27E
RGD GAD
PMID:14557466 PMID:15118671
RGD:1601127 , RGD:1331525
NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
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AGT
angiotensinogen
ISO
mRNA, protein:increased expression:adipose tissue
RGD
PMID:17260464
RGD:1601134
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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AGTR1
angiotensin II receptor type 1
susceptibility
IAGP
DNA:snp:3' utr:c.5186A>C
RGD
PMID:17211857
RGD:1601146
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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ALDOA
aldolase, fructose-bisphosphate A
ISO
mRNA:increased expression:aorta
RGD
PMID:21890532
RGD:13673877
NCBI chr16:30,053,151...30,070,414
Ensembl chr16:30,053,090...30,070,420 Ensembl chr16:30,053,090...30,070,420 Ensembl chr16:30,053,090...30,070,420
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ALDOA
aldolase, fructose-bisphosphate A
ISO
mRNA:increased expression:aorta
RGD
PMID:21890532
RGD:13673877
NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457
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ALPL
alkaline phosphatase, biomineralization associated
susceptibility
IEP
protein:increased expression:serum
RGD
PMID:16249437
RGD:1601174
NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
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APOA1
apolipoprotein A1
IEP IAGP
protein:decreased expression:serum (human) DNA: polymorphism: :G2, G3 and G5
RGD
PMID:17217166 PMID:21410987 PMID:21410987
RGD:1601183 , RGD:5508220 , RGD:5508220
NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
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APOA2
apolipoprotein A2
IEP
protein:decreased expression:serum
RGD
PMID:19817643
RGD:2313955
NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,290...161,223,631
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APOA5
apolipoprotein A5
susceptibility
IAGP
DNA:polymorphism: :p.S19W (human)
RGD
PMID:18789138
RGD:2313315
NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
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APOB
apolipoprotein B
IEP
protein:increased expression:plasma
RGD
PMID:16828905
RGD:1601198
NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
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APOC3
apolipoprotein C3
susceptibility
IEP IAGP
protein:increased expression:serum (human) DNA:polymorphism:promoter:-482C>T, -455T>C
RGD
PMID:16298371 PMID:17416293
RGD:2306766 , RGD:1601223
NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
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APOM
apolipoprotein M
IEP
protein:decreased expression:plasma
RGD
PMID:19539616
RGD:2314236
NCBI chr 6:31,652,404...31,658,210
Ensembl chr 6:31,652,416...31,658,210
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ATM
ATM serine/threonine kinase
ISO
RGD
PMID:17084711
RGD:1601248
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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ATP12A
ATPase H+/K+ transporting non-gastric alpha2 subunit
ISO
RGD
PMID:23320804
RGD:13838660
NCBI chr13:24,680,408...24,712,472
Ensembl chr13:24,680,408...24,712,472
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BCHE
butyrylcholinesterase
IEP
protein:increased expression:serum
RGD
PMID:15907830
RGD:1601317
NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
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BDNF
brain derived neurotrophic factor
IEP
RGD
PMID:11935372
RGD:1580935
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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BGLAP
bone gamma-carboxyglutamate protein
IEP
protein:decreased expression:serum
RGD
PMID:21760737
RGD:6483594
NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317
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C3
complement C3
IEP
RGD
PMID:16488421
RGD:2314030
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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CAPN10
calpain 10
IAGP
DNA:polymorphism
RGD
PMID:16546286
RGD:1625050
NCBI chr 2:240,586,734...240,599,104
Ensembl chr 2:240,586,734...240,617,705
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CCK
cholecystokinin
IEP
protein:decreased expression:plasma:associated with Obesity, Morbid (MeSH:D009767)
RGD
PMID:17443025
RGD:1625798
NCBI chr 3:42,257,826...42,266,185
Ensembl chr 3:42,257,825...42,266,185
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CCL2
C-C motif chemokine ligand 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16188961 PMID:18486454
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCL5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:plasma (rat)
RGD
PMID:19905967
RGD:4889977
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CD163
CD163 molecule
susceptibility
IEP
protein:increased expression:blood serum (human)
RGD
PMID:31027316
RGD:127345132
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
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CD36
CD36 molecule (CD36 blood group)
IAGP ISO
DNA:SNPs: :multiple (human)
RGD
PMID:18305138 PMID:9916795
RGD:2307208 , RGD:619666
NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
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CD40LG
CD40 ligand
IEP
protein:increased expression:serum
RGD
PMID:16423632 PMID:20006362
RGD:2314214 , RGD:5490591
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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CELA2A
chymotrypsin like elastase 2A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:31358993
NCBI chr 1:15,456,732...15,472,091
Ensembl chr 1:15,456,728...15,472,091
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CHEK2
checkpoint kinase 2
ISO
mRNA:increased expression:heart left ventricle (rat)
RGD
PMID:25129990
RGD:10400905
NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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CIITA
class II major histocompatibility complex transactivator
IAGP
DNA:polymorphism:promoter:-168A>G
RGD
PMID:17183695
RGD:5491201
NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
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CRP
C-reactive protein
IMP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16644639 PMID:21357282
RGD:6482318
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CST3
cystatin C
IEP
protein:increased expression:serum (human)
RGD
PMID:19887833
RGD:2314295
NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
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CYBA
cytochrome b-245 alpha chain
ISO
RGD
PMID:16741160
RGD:2317864
NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
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CYP11B2
cytochrome P450 family 11 subfamily B member 2
susceptibility
IAGP
DNA:polymorphism:promoter:-344C>T (human)
RGD
PMID:17261471
RGD:2307294
NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
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CYP7A1
cytochrome P450 family 7 subfamily A member 1
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163
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DDR1
discoidin domain receptor tyrosine kinase 1
ISO
RGD
PMID:32360427
RGD:151347874
NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156
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DGAT1
diacylglycerol O-acyltransferase 1
treatment
ISO
RGD
PMID:21990351
RGD:10401057
NCBI chr 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910
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DIO2
iodothyronine deiodinase 2
IAGP
DNA:polymorphism: :p.T92A (human)
RGD
PMID:18198294
RGD:2313696
NCBI chr14:80,197,526...80,231,057
Ensembl chr14:80,197,526...80,387,757
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EPHX2
epoxide hydrolase 2
ISO
RGD
PMID:22007192
RGD:5688391
NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564
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F3
coagulation factor III, tissue factor
IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:12417540
RGD:2313865
NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
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FABP2
fatty acid binding protein 2
IAGP
DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India
RGD
PMID:16919542
RGD:1626401
NCBI chr 4:119,317,250...119,322,138
Ensembl chr 4:119,317,250...119,322,138
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FABP4
fatty acid binding protein 4
IEP
protein:increased expression:serum
RGD
PMID:16919044
RGD:1625406
NCBI chr 8:81,478,419...81,483,233
Ensembl chr 8:81,478,419...81,483,236
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FADD
Fas associated via death domain
ISO
protein:increased expression:heart left ventricle
RGD
PMID:23657904
RGD:11344884
NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390
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FAS
Fas cell surface death receptor
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:11934685
RGD:628329
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FASN
fatty acid synthase
ameliorates
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438 PMID:31353547 PMID:27821167
RGD:329333017 , RGD:401850595 , RGD:401799622
NCBI chr17:82,078,338...82,098,236
Ensembl chr17:82,078,338...82,098,294
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FGF19
fibroblast growth factor 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28673684
NCBI chr11:69,698,238...69,704,022
Ensembl chr11:69,698,238...69,704,022
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FGF21
fibroblast growth factor 21
treatment
ISO
RGD
PMID:25306889
RGD:10401890
NCBI chr19:48,755,524...48,758,330
Ensembl chr19:48,755,524...48,758,333
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FTO
FTO alpha-ketoglutarate dependent dioxygenase
IAGP
DNA:SNPs: :rs1421085, rs1558902, rs8050136, rs9939609 (human) DNA:SNP: :rs9939973 (human)
RGD
PMID:21796137 PMID:32061761
RGD:329853776 , RGD:329901771
NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
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G6PC1
glucose-6-phosphatase catalytic subunit 1
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438
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G6PD
glucose-6-phosphate dehydrogenase
treatment
ISO
RGD
PMID:19374165 PMID:24868532
RGD:2307350 , RGD:10449117
NCBI chr X:154,531,390...154,547,569
Ensembl chr X:154,517,825...154,547,572
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GCG
glucagon
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404
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GCH1
GTP cyclohydrolase 1
treatment
ISO
RGD
PMID:34200262
RGD:329970293
NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
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GCK
glucokinase
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
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GCKR
glucokinase regulator
IMP
RGD
PMID:19861489
RGD:7242423
NCBI chr 2:27,496,839...27,523,684
Ensembl chr 2:27,496,839...27,523,684
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GGT1
gamma-glutamyltransferase 1
susceptibility
IAGP IEP
RGD
PMID:17095717 PMID:24847614
RGD:1601300 , RGD:14747015
NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005
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GHRL
ghrelin and obestatin prepropeptide
IAGP IEP
DNA:polymorphisms ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to In peritoneal dialysis patients associated with Kidney Diseases;protein:decreased expression:serum
ClinVar RGD
PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 PMID:25741868 PMID:16204371 PMID:18552255 PMID:18996292 More...
RGD:1625021 , RGD:7242555 , RGD:2313748
NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947
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GHRLOS
ghrelin opposite strand/antisense RNA
IAGP
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
ClinVar
PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 PMID:25741868
NCBI chr 3:10,280,952...10,293,449
Ensembl chr 3:10,285,754...10,294,903
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GPR17
G protein-coupled receptor 17
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34144038
NCBI chr 2:127,646,153...127,652,639
Ensembl chr 2:127,645,864...127,652,639
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GPX3
glutathione peroxidase 3
IEP
protein:increased expression:serum
RGD
PMID:24819036
RGD:401827122
NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
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GSN
gelsolin
severity
ISO
RGD
PMID:29684438
RGD:329333017
NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
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GSTM1
glutathione S-transferase mu 1
IAGP
RGD
PMID:29452132
RGD:14700976
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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HDAC3
histone deacetylase 3
ISO
RGD
PMID:21763752
RGD:9590183
NCBI chr 5:141,620,881...141,636,849
Ensembl chr 5:141,620,876...141,636,849
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HGF
hepatocyte growth factor
IDA
study in the Japanese population
RGD
PMID:15713721
RGD:1642702
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
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HMGA1
high mobility group AT-hook 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23512162
NCBI chr 6:34,236,873...34,246,231
Ensembl chr 6:34,236,873...34,246,231
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HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
ameliorates
ISO
RGD
PMID:19461650 PMID:31353547 PMID:27821167
RGD:5508692 , RGD:401850595 , RGD:401799622
NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
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HMOX1
heme oxygenase 1
treatment
ISO
RGD
PMID:22193921
RGD:10763276
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HNF4A
hepatocyte nuclear factor 4 alpha
IAGP
Finnish population; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2)
RGD
PMID:16804065
RGD:1601642
NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845
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HP
haptoglobin
treatment
IEP ISO
protein:increased expression
RGD
PMID:17007284 PMID:20508159
RGD:1626341 , RGD:11041859
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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HSD11B1
hydroxysteroid 11-beta dehydrogenase 1
disease_progression susceptibility
TAS IEP IAGP
potential therapeutic target mRNA:increased expression:ascending aorta,epicardial fat (human) DNA:SNP: (rs12086634)T>G (human) DNA:SNPs:5'utr,enhancer: (rs846910,rs12086634) (human) DNA:SNP:: (rs846910) (human)
RGD
PMID:16929377 PMID:23007990 PMID:23869418 PMID:21622477 PMID:28750217
RGD:1625075 , RGD:329901930 , RGD:329901929 , RGD:329901919 , RGD:329901909
NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
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HTR2C
5-hydroxytryptamine receptor 2C
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17632216 PMID:18515891 PMID:19142101
NCBI chr X:114,584,086...114,910,061
Ensembl chr X:114,584,078...114,910,061
G
ICAM1
intercellular adhesion molecule 1
IEP
protein:increased expression:serum
RGD
PMID:19394054
RGD:2313467
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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IDH2
isocitrate dehydrogenase (NADP(+)) 2
susceptibility
ISO
RGD
PMID:31064654
RGD:14985252
NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
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IGF2
insulin like growth factor 2
ISO
DNA:insertion
RGD
PMID:18418699
RGD:2311520
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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IGFBP2
insulin like growth factor binding protein 2
IEP
RGD
PMID:16915540
RGD:1626481
NCBI chr 2:216,632,828...216,664,436
Ensembl chr 2:216,632,828...216,664,436
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IL18
interleukin 18
treatment
ISO EXP
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16644639 PMID:19717152 PMID:24456735
RGD:4889401 , RGD:8655985
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
G
IL6
interleukin 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16644639
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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IL6R
interleukin 6 receptor
susceptibility
IAGP
DNA:polymorphism: :p.D358A
RGD
PMID:16817825
RGD:1625430
NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
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INPPL1
inositol polyphosphate phosphatase like 1
IAGP EXP
DNA:SNPs: :rs2276047,snp8(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15220217 PMID:15220217
RGD:1626127
NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
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INS
insulin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11274935 PMID:16259526
NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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INSR
insulin receptor
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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IRS1
insulin receptor substrate 1
ameliorates
ISO
protein:decreased expression:skeletal muscle
RGD
PMID:10842668 PMID:31353547
RGD:6482864 , RGD:401850595
NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
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IRS2
insulin receptor substrate 2
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583
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ITGAV
integrin subunit alpha V
IEP
RGD
PMID:16784924
RGD:1627640
NCBI chr 2:186,590,056...186,680,901
Ensembl chr 2:186,590,010...186,680,901
G
KL
klotho
ISO
mRNA:decreased expression:kidney:
RGD
PMID:11027545 PMID:11027545
RGD:10403056 , RGD:10403056
NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143
G
LBP
lipopolysaccharide binding protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349936
NCBI chr20:38,346,482...38,377,013
Ensembl chr20:38,346,482...38,377,013
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LDLR
low density lipoprotein receptor
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820
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LEP
leptin
IEP EXP ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma (rat)
CTD RGD
PMID:16793964 PMID:18515891 PMID:19462476 PMID:25380250
RGD:2311125 , RGD:10053625
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
G
LEPR
leptin receptor
ISO
DNA:mutations:cds: : (rat) DNA:mutations::cds: : (rat)
RGD
PMID:32710530 PMID:10901178 PMID:28746409
RGD:401960103 , RGD:401965414 , RGD:401965413
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
G
LIPE
lipase E, hormone sensitive type
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438
RGD:329333017
NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,497...42,427,388
G
LIPG
lipase G, endothelial type
IEP
RGD
PMID:16354105
RGD:1580865
NCBI chr18:49,561,479...49,599,185
Ensembl chr18:49,560,699...49,599,185
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LMNA
lamin A/C
IAGP
DNA:SNP: :c.138747C>T (human)
RGD
PMID:15205219
RGD:2306121
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
G
LOC110973015
NOS3 5' regulatory region
IAGP
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
ClinVar
PMID:28361419
NCBI chr 7:150,988,222...150,994,377
G
LRP6
LDL receptor related protein 6
IAGP
DNA:missense mutation:cds
RGD
PMID:17332414
RGD:2298725
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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LRPAP1
LDL receptor related protein associated protein 1
susceptibility
IAGP
associated with Coronary Disease;DNA:SNP:exon
RGD
PMID:14557872
RGD:1581921
NCBI chr 4:3,503,612...3,532,422
Ensembl chr 4:3,503,612...3,532,446
G
MAP2K2
mitogen-activated protein kinase kinase 2
HEP
mRNA:decreased expression:blood, leukocyte (human)
RGD
PMID:26956845
RGD:155791561
NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
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MIR122
microRNA 122
IEP
miRNA:increased expression:serum
RGD
PMID:27899485
RGD:14401601
NCBI chr18:58,451,074...58,451,158
Ensembl chr18:58,451,074...58,451,158
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MLXIPL
MLX interacting protein like
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
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MTMR9
myotubularin related protein 9
IAGP
DNA:SNP: :rs2293855 (human)
RGD
PMID:21796137
RGD:329853776
NCBI chr 8:11,284,816...11,339,526
Ensembl chr 8:11,284,816...11,328,146
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MTTP
microsomal triglyceride transfer protein
IAGP
ClinVar Annotator: match by term: Metabolic syndrome X
ClinVar
PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 PMID:25741868 PMID:27578136 PMID:28492532 PMID:30522860 PMID:33258201 More...
NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997
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NAMPT
nicotinamide phosphoribosyltransferase
ISO IEP
DNA:repeats:intron protein:increased expression:plasma
RGD
PMID:15922301 PMID:17556870
RGD:1642345 , RGD:1642337
NCBI chr 7:106,248,298...106,285,888
Ensembl chr 7:106,248,298...106,285,966
G
NEIL1
nei like DNA glycosylase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16446448 PMID:17389588
NCBI chr15:75,347,039...75,357,115
Ensembl chr15:75,346,955...75,357,115
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NGF
nerve growth factor
IEP
RGD
PMID:11935372
RGD:1580935
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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NNMT
nicotinamide N-methyltransferase
ISO
mRNA,protein:increased expression,increased activity:adipose tissue (rat)
RGD
PMID:25719492
RGD:401793724
NCBI chr11:114,257,806...114,313,536
Ensembl chr11:114,257,787...114,313,536
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NOS3
nitric oxide synthase 3
treatment
ISO IAGP EXP
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:12947532 PMID:15269839 PMID:20876122 PMID:28361419 PMID:29127233 PMID:28967023 More...
RGD:13450928 , RGD:13461762
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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NOX1
NADPH oxidase 1
IEP
protein:increased expression, increased activity:peripheral blood mononuclear cell (human)
RGD
PMID:16380495
RGD:1580973
NCBI chr X:100,843,324...100,874,359
Ensembl chr X:100,843,324...100,874,359
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NR1H3
nuclear receptor subfamily 1 group H member 3
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033
G
NR1I2
nuclear receptor subfamily 1 group I member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20869355
NCBI chr 3:119,782,101...119,818,487
Ensembl chr 3:119,780,484...119,818,487
G
NR1I3
nuclear receptor subfamily 1 group I member 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20869355
NCBI chr 1:161,229,669...161,238,203
Ensembl chr 1:161,229,666...161,238,244
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PCK1
phosphoenolpyruvate carboxykinase 1
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121
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PCSK9
proprotein convertase subtilisin/kexin type 9
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,445...55,064,852
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PDE9A
phosphodiesterase 9A
treatment
ISO
RGD
PMID:34618683
RGD:242170038
NCBI chr21:42,653,621...42,775,509
Ensembl chr21:42,653,621...42,775,509
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PLA2G4A
phospholipase A2 group IVA
ISO
mRNA:decreased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr 1:186,828,949...186,988,981
Ensembl chr 1:186,828,949...186,988,981
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PLA2G6
phospholipase A2 group VI
ISO
mRNA:decreased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
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PLA2G7
phospholipase A2 group VII
ISO
mRNA:increased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693
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PLAT
plasminogen activator, tissue type
IEP
protein:increased expression:serum
RGD
PMID:18249307
RGD:2311664
NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
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PON1
paraoxonase 1
IEP EXP
protein:decreased activity:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21573798 PMID:14602783
RGD:1642618
NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
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PPARA
peroxisome proliferator activated receptor alpha
ameliorates
ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:11934685 PMID:31353547
RGD:628329 , RGD:401850595
NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
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PPARG
peroxisome proliferator activated receptor gamma
no_association ameliorates
IAGP ISO
DNA:SNP: :p.P12A (human)
RGD
PMID:18959602 PMID:31353547 PMID:16183630 PMID:16186413
RGD:2301843 , RGD:401850595 , RGD:1580683 , RGD:1580686
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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PPARGC1A
PPARG coactivator 1 alpha
ISO
mRNA:decreased expression:gastrocnemius muscle (rat)
RGD
PMID:20383225
RGD:10059661
NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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PRKAA2
protein kinase AMP-activated catalytic subunit alpha 2
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr 1:56,645,314...56,715,335
Ensembl chr 1:56,645,314...56,715,335
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PRL
prolactin
IEP
RGD
PMID:16303834
RGD:1642558
NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:liver
RGD
PMID:17883899
RGD:1642586
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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RBP4
retinol binding protein 4
disease_progression
IEP
protein:increased expression:blood serum (human) associated with obstructive sleep apnea;protein:increased expression:blood plasma (human)
RGD
PMID:19339013 PMID:19003725
RGD:329845591 , RGD:329853307
NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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REG1A
regenerating family member 1 alpha
treatment
ISO
RGD
PMID:21685239
RGD:10044029
NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409
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RETN
resistin
IAGP EXP
DNA:SNP:promoter:-420C>G (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18328350 PMID:17598818
RGD:7207155
NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
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SCD
stearoyl-CoA desaturase
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr10:100,347,233...100,364,826
Ensembl chr10:100,347,233...100,364,826
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SCG3
secretogranin III
IAGP
DNA:SNP: :rs3764220 (human)
RGD
PMID:21796137
RGD:329853776
NCBI chr15:51,681,503...51,721,026
Ensembl chr15:51,681,492...51,721,026
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SELP
selectin P
IEP
RGD
PMID:19061719
RGD:2312292
NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
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SERPINA12
serpin family A member 12
treatment
IDA
human protein in a mouse model
RGD
PMID:16030142
RGD:1547845
NCBI chr14:94,487,279...94,517,844
Ensembl chr14:94,487,274...94,517,844
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SERPINE1
serpin family E member 1
treatment
ISO
RGD
PMID:26084260
RGD:11073736
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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SHBG
sex hormone binding globulin
IEP EXP
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16968811 PMID:17992261 PMID:17884445
RGD:2313785
NCBI chr17:7,614,064...7,633,372
Ensembl chr17:7,613,946...7,633,382
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SIM1
SIM bHLH transcription factor 1
IAGP
ClinVar Annotator: match by term: SIM1-associated metabolic syndrome
ClinVar
NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921
G
SIM1-AS1
SIM1 antisense RNA 1
IAGP
ClinVar Annotator: match by term: SIM1-associated metabolic syndrome
ClinVar
NCBI chr 6:100,393,486...100,444,796
G
SIRT1
sirtuin 1
treatment
ISO EXP
CTD Direct Evidence: marker/mechanism protein:decreased expression:hippocampus (rat)
CTD RGD
PMID:20068143 PMID:21514307 PMID:25356430
RGD:9585758 , RGD:10053569
NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
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SLC27A1
solute carrier family 27 member 1
susceptibility
ISO
RGD
PMID:16611988
RGD:1642790
NCBI chr19:17,468,767...17,506,168
Ensembl chr19:17,468,769...17,506,168
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SLC2A1
solute carrier family 2 member 1
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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SLC2A4
solute carrier family 2 member 4
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257
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SOAT2
sterol O-acyltransferase 2
susceptibility
IAGP
DNA:SNPs
RGD
PMID:14557872
RGD:1581921
NCBI chr12:53,103,486...53,124,535
Ensembl chr12:53,103,486...53,124,535
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SOD2
superoxide dismutase 2
treatment
ISO
RGD
PMID:28875871
RGD:26923956
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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SREBF1
sterol regulatory element binding transcription factor 1
disease_progression ameliorates
ISO
protein:increased expression:liver (mouse) mRNA:increased expression:liver (rat)
RGD
PMID:29173234 PMID:31353547 PMID:11934685
RGD:401827867 , RGD:401850595 , RGD:628329
NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
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TF
transferrin
susceptibility
IEP
protein:increased expression:serum
RGD
PMID:17416791
RGD:1601514
NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
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TGFB1
transforming growth factor beta 1
ISO
mRNA:increased expression:left heart ventricle
RGD
PMID:18692559
RGD:2306739
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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THBD
thrombomodulin
IEP
associated with Diabetic Nephropathies;protein:increased expression:plasma
RGD
PMID:16567841
RGD:1601641
NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
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TNF
tumor necrosis factor
treatment
ISO
RGD
PMID:24441717
RGD:10450604
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF1A
TNF receptor superfamily member 1A
IAGP
associated with obesity;protein:increased expression:plasma
RGD
PMID:17200772
RGD:1624178
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TRIB3
tribbles pseudokinase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18497449
NCBI chr20:380,760...397,559
Ensembl chr20:362,835...397,559
G
UCP2
uncoupling protein 2
ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:11934685
RGD:628329
NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,061...73,982,843
G
UCP3
uncoupling protein 3
treatment
ISO
RGD
PMID:11934685
RGD:628329
NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085
G
VCAM1
vascular cell adhesion molecule 1
ISO
RGD
PMID:18718174
RGD:2313109
NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
G
VEGFA
vascular endothelial growth factor A
IEP
protein:increased expression:plasma:
RGD
PMID:22206010
RGD:7483588
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
G
VWF
von Willebrand factor
IEP
protein:increased expression:plasma
RGD
PMID:16764036
RGD:1625709
NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all