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-Coenzyme A carboxylase alpha
treatment
ISO
RGD
PMID:16485039 PMID:26394137
RGD:1625727 , RGD:329955565
NCBI chr11:84,020,461...84,292,477
Ensembl chr11:84,020,498...84,292,477
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Acacb
acetyl-Coenzyme A carboxylase beta
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22658938 PMID:16485039 PMID:26394137
RGD:1625727 , RGD:329955565
NCBI chr 5:114,284,748...114,388,822
Ensembl chr 5:114,284,596...114,388,822
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Ace
angiotensin I converting enzyme
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Acp1
acid phosphatase 1, soluble
IMP
associated with Obesity
RGD
PMID:17353188
RGD:2313180
NCBI chr12:30,943,325...30,961,616
Ensembl chr12:30,943,325...30,961,588
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Acsl1
acyl-CoA synthetase long-chain family member 1
ISO
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:16788709
RGD:1625735
NCBI chr 8:46,924,214...46,989,088
Ensembl chr 8:46,924,074...46,989,088
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Adipoq
adiponectin, C1Q and collagen domain containing
treatment
ISO
associated with Hypertension CTD Direct Evidence: therapeutic
CTD RGD
PMID:18931039 PMID:21484566 PMID:16041833 PMID:21872431 PMID:23089228
RGD:1599150 , RGD:8695928 , RGD:8695951
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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Adipor1
adiponectin receptor 1
resistance
ISO
associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C
RGD
PMID:17285539
RGD:1625762
NCBI chr 1:134,343,116...134,361,089
Ensembl chr 1:134,343,116...134,361,089
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Adipor2
adiponectin receptor 2
treatment
ISO
RGD
PMID:30225267 PMID:24797033
RGD:21406435 , RGD:25824940
NCBI chr 6:119,330,111...119,394,489
Ensembl chr 6:119,330,111...119,394,665
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Adm
adrenomedullin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33491863
NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027
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Adora1
adenosine A1 receptor
treatment
ISO
associated with Obesity
RGD
PMID:11703426 PMID:15220221
RGD:2313807 , RGD:1625243
NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,963...134,163,169
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Adra1b
adrenergic receptor, alpha 1b
susceptibility
IAGP
RGD
PMID:14581480
RGD:1625772
NCBI chr11:43,665,432...43,792,076
Ensembl chr11:43,665,433...43,792,037
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Adrb2
adrenergic receptor, beta 2
ISO
DNA:polymorphism: :p.R16G CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19034036 PMID:15699455 PMID:11510954
RGD:1601125 , RGD:1598757
NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
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Adrb3
adrenergic receptor, beta 3
no_association
ISO
DNA:missense mutation:cds:p.W64R rs4994 (human) associated with Obesity;DNA:polymorphism: :p.W64R (human)
RGD
PMID:10421225 PMID:17299491 PMID:10582543
RGD:1559326 , RGD:2313158 , RGD:5684421
NCBI chr 8:27,715,804...27,720,833
Ensembl chr 8:27,715,804...27,740,644
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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:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
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Ahr
aryl-hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25734695
NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
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Ahsg
alpha-2-HS-glycoprotein
susceptibility
IAGP ISO
protein:increased expression:plasma
RGD
PMID:17011519 PMID:16567827
RGD:1625793 , RGD:1625794
NCBI chr16:22,710,793...22,718,193
Ensembl chr16:22,710,027...22,718,199
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Akt2
thymoma viral proto-oncogene 2
no_association
ISO
DNA:SNPs
RGD
PMID:17327441
RGD:1601155
NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251
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Aldh2
aldehyde dehydrogenase 2, mitochondrial
treatment
ISO
protein:altered expression, altered activity:liver (rat)
RGD
PMID:28688179
RGD:14981582
NCBI chr 5:121,704,090...121,731,887
Ensembl chr 5:121,704,090...121,731,887
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Alox15
arachidonate 15-lipoxygenase
IMP
RGD
PMID:19787041
RGD:5509625
NCBI chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857
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Ankrd26
ankyrin repeat domain 26
IMP
RGD
PMID:18162531
RGD:9681744
NCBI chr 6:118,478,261...118,539,244
Ensembl chr 6:118,478,269...118,539,187
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Apln
apelin
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:17594060
RGD:1626170
NCBI chr X:47,114,023...47,123,730
Ensembl chr X:47,114,023...47,123,730
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Apoa2
apolipoprotein A-II
IMP
RGD
PMID:11246886
RGD:2313957
NCBI chr 1:171,049,133...171,053,948
Ensembl chr 1:171,052,623...171,053,948
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Apoc1
apolipoprotein C-I
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:11723061
RGD:2313951
NCBI chr 7:19,423,405...19,426,584
Ensembl chr 7:19,423,406...19,426,585
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Apoc3
apolipoprotein C-III
susceptibility treatment
IAGP ISO
RGD
PMID:15734841 PMID:15007394
RGD:1601226 , RGD:1580750
NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934
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Ar
androgen receptor
ISO
associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21444647 PMID:17332526 PMID:16793958
RGD:1601244 , RGD:2306773
NCBI chr X:97,192,363...97,366,824
Ensembl chr X:97,192,375...97,366,821
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Arg1
arginase, liver
ISO
protein:decreased activity:liver (rat)
RGD
PMID:20593143
RGD:4142796
NCBI chr10:24,791,105...24,803,368
Ensembl chr10:24,791,119...24,803,382
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As3mt
arsenite methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr19:46,695,124...46,729,538
Ensembl chr19:46,695,897...46,729,538
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Atm
ataxia telangiectasia mutated
treatment
ISO
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 chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Atp1a2
ATPase, Na+/K+ transporting, alpha 2 polypeptide
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:14576983
RGD:1601252
NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631
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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 chr19:6,919,229...6,929,273
Ensembl chr19:6,919,229...6,929,267
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Bche
butyrylcholinesterase
ISO
RGD
PMID:17917325
RGD:2306776
NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
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Bdkrb1
bradykinin receptor, beta 1
ISO
RGD
PMID:17618300 PMID:17988733
RGD:5129217 , RGD:5129214
NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
RGD
PMID:25934999
RGD:11085488
NCBI chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047
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C1ra
complement component 1, r subcomponent A
ISO
protein:increased expression:adipocyte
RGD
PMID:17244723
RGD:1600551
NCBI chr 6:124,489,580...124,500,399
Ensembl chr 6:124,489,364...124,500,402
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C1rb
complement component 1, r subcomponent B
ISO
protein:increased expression:adipocyte
RGD
PMID:17244723
RGD:1600551
NCBI chr 6:124,547,389...124,558,003
Ensembl chr 6:124,547,253...124,558,130
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C3
complement component 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18615583
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Capn10
calpain 10
ISO
DNA:SNP:intron:rs3792267 (human)
RGD
PMID:11018080
RGD:7247736
NCBI chr 1:92,862,130...92,875,670
Ensembl chr 1:92,862,098...92,875,663
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Casp1
caspase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22325453
NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
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Casp3
caspase 3
treatment
ISO
RGD
PMID:29748970
RGD:13782289
NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
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Casp8
caspase 8
ISO
RGD
PMID:29748970
RGD:13782289
NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662
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Cat
catalase
ISO
associated with Obesity
RGD
PMID:19188683
RGD:5130761
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Cblb
Casitas B-lineage lymphoma b
IAGP
RGD
PMID:17601987
RGD:2314038
NCBI chr16:51,851,593...52,028,410
Ensembl chr16:51,851,588...52,028,411
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Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO IMP
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 chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Cd163
CD163 antigen
exacerbates
ISO
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 chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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Cd36
CD36 molecule
ISO IMP
associated with Diabetes Mellitus, Type 2 CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14640889 PMID:11175782 PMID:15231693 PMID:12923231 PMID:25477422
RGD:68930 , RGD:2307217 , RGD:11040926 , RGD:11041132
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
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Cd40
CD40 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd68
CD68 antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr11:69,555,039...69,556,996
Ensembl chr11:69,555,039...69,556,979
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Cers1
ceramide synthase 1
ameliorates
IMP
RGD
PMID:30605666
RGD:156431060
NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242
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Cnr1
cannabinoid receptor 1
ISO
associated with Obesity
RGD
PMID:19553924
RGD:2314662
NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831
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Cntf
ciliary neurotrophic factor
TAS
possible therapeutic agent
RGD
PMID:16675997
RGD:1626122
NCBI chr19:12,740,892...12,742,996
Ensembl chr19:12,741,024...12,742,996
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Coq2
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
ISO
associated with obesity
RGD
PMID:26296322
RGD:10755343
NCBI chr 5:100,802,589...100,822,154
Ensembl chr 5:100,802,589...100,823,006
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Cpb2
carboxypeptidase B2
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma
RGD
PMID:11836301
RGD:2313645
NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995
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Cpe
carboxypeptidase E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15358678
NCBI chr 8:65,045,576...65,146,143
Ensembl chr 8:65,045,576...65,146,088
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Cst3
cystatin C
ISO
associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human)
RGD
PMID:19765773
RGD:2314305
NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612
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Ctf1
cardiotrophin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21803294
NCBI chr 7:127,311,872...127,317,360
Ensembl chr 7:127,311,908...127,317,364
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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
DNA:SNP:CDS: rs12794714|rs10766197 (human)
RGD
PMID:34906413
RGD:401900724
NCBI chr 7:114,149,358...114,162,283
Ensembl chr 7:114,148,917...114,162,207
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Dgat2
diacylglycerol O-acyltransferase 2
treatment
ISO
RGD
PMID:26394137
RGD:329955565
NCBI chr 7:98,802,870...98,831,920
Ensembl chr 7:98,802,865...98,831,926
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Dio2
deiodinase, iodothyronine, type II
ISO
DNA:SNP: :rs225014, p.T92A (human)
RGD
PMID:11872697
RGD:2313698
NCBI chr12:90,691,326...90,705,812
Ensembl chr12:90,691,326...90,705,812
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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 chr13:54,205,202...54,209,677
Ensembl chr13:54,205,202...54,209,724
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Ech1
enoyl coenzyme A hydratase 1, peroxisomal
treatment
IDA
RGD
PMID:31961704
RGD:21408561
NCBI chr 7:28,524,763...28,531,664
Ensembl chr 7:28,524,642...28,531,672
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22238402
NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
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 chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
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F7
coagulation factor VII
severity
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
RGD
PMID:9187410
RGD:2312406
NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809
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Fabp2
fatty acid binding protein 2, intestinal
no_association
ISO
DNA:SNP:CDS:p.A54T (human) DNA:polymorphism:CDS:p.A54T (human) 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
ClinVar RGD
PMID:7883976 PMID:9253345 PMID:10946885 PMID:10999802 PMID:12161503 PMID:14666368 PMID:15572430 PMID:25741868 PMID:7883976 PMID:14981227 PMID:17211557 PMID:16311100 More...
RGD:1300314 , RGD:1626400 , RGD:1626407 , RGD:1578456
NCBI chr 3:122,688,721...122,693,155
Ensembl chr 3:122,688,721...122,693,155
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Fabp3
fatty acid binding protein 3, muscle and heart
severity
IAGP
RGD
PMID:16249436
RGD:1578459
NCBI chr 4:130,202,531...130,209,256
Ensembl chr 4:130,202,388...130,209,256
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Fabp4
fatty acid binding protein 4, adipocyte
ISO
RGD
PMID:17391165
RGD:1625407
NCBI chr 3:10,269,406...10,273,653
Ensembl chr 3:10,269,148...10,273,636
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Fanca
Fanconi anemia, complementation group A
IMP
RGD
PMID:22482891
RGD:11046266
NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315
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Fancc
Fanconi anemia, complementation group C
IMP
RGD
PMID:22482891
RGD:11046266
NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092
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Fas
Fas cell surface death receptor
treatment
ISO
associated with hypothalamic disease
RGD
PMID:29522769
RGD:13792596
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fasn
fatty acid synthase
treatment
ISO
RGD
PMID:26394137
RGD:329955565
NCBI chr11:120,696,784...120,715,992
Ensembl chr11:120,696,672...120,715,373
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Fgf15
fibroblast growth factor 15
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28673684
NCBI chr 7:144,450,269...144,454,690
Ensembl chr 7:144,450,268...144,454,690
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Fis1
fission, mitochondrial 1
ISO
protein:increased expression:liver (rat)
RGD
PMID:24663492
RGD:12453042
NCBI chr 5:136,982,129...136,995,088
Ensembl chr 5:136,982,129...136,995,088
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Foxc2
forkhead box C2
ISO
DNA:polymorphism:5'ut:-512C>T
RGD
PMID:12453913
RGD:1601219
NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634
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Foxo1
forkhead box O1
ISO
mRNA:increased expression:adipose tissue:
RGD
PMID:16041833
RGD:1599150
NCBI chr 3:52,175,758...52,257,530
Ensembl chr 3:52,175,757...52,260,642
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Fto
FTO alpha-ketoglutarate dependent dioxygenase
ISO
associated with diabetes mellitus;DNA:SNP: :rs9939609 (human) associated with obesity;DNA:SNP:intron:rs17817449 (human) DNA:SNPs, haplotype: :rs1121980, rs1558902, rs9939609 (human) mRNA, protein:increased expression:liver
RGD
PMID:30273662 PMID:21919686 PMID:20075932 PMID:35945320
RGD:329812018 , RGD:329812040 , RGD:329853775 , RGD:329951016
NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067
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Fxn
frataxin
ISO
DNA:repeats:intron:GAA (human)
RGD
PMID:10969848
RGD:2307049
NCBI chr19:24,236,909...24,257,954
Ensembl chr19:24,238,817...24,257,969
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G6pdx
glucose-6-phosphate dehydrogenase X-linked
ISO
associated with Obesity;protein:increased expression:pancreas
RGD
PMID:23015612
RGD:10449129
NCBI chr X:73,453,089...73,472,486
Ensembl chr X:73,453,089...73,472,800
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Gck
glucokinase
ISO
protein:increased expression:pancreatic islet
RGD
PMID:19039094
RGD:7488970
NCBI chr11:5,850,816...5,900,081
Ensembl chr11:5,850,820...5,900,081
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Gfpt1
glutamine fructose-6-phosphate transaminase 1
ISO
RGD
PMID:11118009
RGD:1625423
NCBI chr 6:87,019,828...87,069,189
Ensembl chr 6:87,019,828...87,069,179
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Gh
growth hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21559284
NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691
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Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17062894
NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
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Gnb3
guanine nucleotide binding protein (G protein), beta 3
ISO
DNA:polymorphism: :825C>T (human)
RGD
PMID:12624279
RGD:1580411
NCBI chr 6:124,811,203...124,817,238
Ensembl chr 6:124,811,203...124,817,238
G
Gpam
glycerol-3-phosphate acyltransferase, mitochondrial
treatment
ISO
RGD
PMID:26394137
RGD:329955565
NCBI chr19:55,056,067...55,115,666
Ensembl chr19:55,055,700...55,115,670
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Gpr17
G protein-coupled receptor 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34144038
NCBI chr18:32,076,052...32,082,925
Ensembl chr18:32,076,050...32,082,689
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Gpx3
glutathione peroxidase 3
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma
CTD RGD
PMID:19270708 PMID:24361363
RGD:401827920
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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Grk2
G protein-coupled receptor kinase 2
IDA
RGD
PMID:15994203
RGD:1625791
NCBI chr19:4,336,029...4,356,356
Ensembl chr19:4,336,029...4,356,250
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Gsta4
glutathione S-transferase, alpha 4
ISO
mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human)
RGD
PMID:20150287
RGD:5687771
NCBI chr 9:78,099,248...78,116,631
Ensembl chr 9:78,090,056...78,116,631
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Gys1
glycogen synthase 1, muscle
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human)
RGD
PMID:9267990
RGD:2313176
NCBI chr 7:45,084,263...45,106,041
Ensembl chr 7:45,084,268...45,106,043
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Hamp
hepcidin antimicrobial peptide
ISO
mRNA:decreased expression:liver
RGD
PMID:17350134
RGD:1601515
NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457
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Hmga1
high mobility group AT-hook 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23512162
NCBI chr17:27,774,798...27,782,649
Ensembl chr17:27,775,471...27,782,648
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:18375438 PMID:19171794 PMID:12941774
RGD:1601621
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Hnf1a
HNF1 homeobox A
ISO
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 chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21786805
NCBI chr 1:192,903,917...192,946,345
Ensembl chr 1:192,903,942...192,946,383
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Hspd1
heat shock protein 1 (chaperonin)
ISO
RGD
PMID:18948349
RGD:10402862
NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402
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Htr2a
5-hydroxytryptamine (serotonin) receptor 2A
ISO
associated with Peripheral Vascular Diseases
RGD
PMID:17062970
RGD:1624367
NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934
G
Icam1
intercellular adhesion molecule 1
ISO
associated with Obesity;protein:increased secretion:plasma (human) protein:increased expression:serum
RGD
PMID:11782876 PMID:19394054
RGD:1625753 , RGD:2313467
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Igf2bp2
insulin-like growth factor 2 mRNA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr16:21,877,759...21,982,049
Ensembl chr16:21,877,759...21,982,049
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Igfals
insulin-like growth factor binding protein, acid labile subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17726072
NCBI chr17:25,096,818...25,100,985
Ensembl chr17:25,084,971...25,100,984
G
Igfbp2
insulin-like growth factor binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22537059 PMID:17259371
RGD:1626479
NCBI chr 1:72,863,650...72,891,633
Ensembl chr 1:72,863,662...72,891,633
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Igfbp3
insulin-like growth factor binding protein 3
ISO
RGD
PMID:17237715
RGD:2313762
NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
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Igfbp6
insulin-like growth factor binding protein 6
ISO
human transgene overexpressed in mouse brain
RGD
PMID:15889232
RGD:2301717
NCBI chr15:102,052,621...102,057,947
Ensembl chr15:102,052,797...102,057,946
G
Igfbp7
insulin-like growth factor binding protein 7
ISO IMP
protein:increased expression:serum associated with metabolic dysfunction-associated steatotic liver disease
RGD
PMID:16873698 PMID:31397492
RGD:1626516 , RGD:401960873
NCBI chr 5:77,497,092...77,555,892
Ensembl chr 5:77,497,087...77,555,888
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Ikbkb
inhibitor of kappaB kinase beta
treatment
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29036520 PMID:19073766 PMID:11533494
RGD:7495768 , RGD:10045961
NCBI chr 8:23,149,228...23,196,605
Ensembl chr 8:23,149,228...23,196,605
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Il18
interleukin 18
treatment
ISO IMP
associated with Graves Disease
RGD
PMID:23257837 PMID:16732281
RGD:8655938 , RGD:14695532
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
G
Il1b
interleukin 1 beta
treatment
IEP ISO
associated with Obesity;mRNA:increased expression:adipose tissue associated with hypothalamic disease
RGD
PMID:16865359 PMID:29522769
RGD:1626632 , RGD:13792596
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Il6
interleukin 6
ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat) mRNA:increased expression:islet of Langerhans
RGD
PMID:19328014 PMID:21826222
RGD:2307252 , RGD:10402828
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
G
Il6ra
interleukin 6 receptor, alpha
ISO
protein:decreased expression:serum
RGD
PMID:14962155
RGD:1625431
NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
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Il7
interleukin 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20376352
NCBI chr 3:7,637,088...7,678,820
Ensembl chr 3:7,635,054...7,678,820
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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 chr 7:101,471,839...101,487,419
Ensembl chr 7:101,471,839...101,487,436
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Ins1
insulin I
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19586609
NCBI chr19:52,252,735...52,253,453
Ensembl chr19:52,252,735...52,253,914
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Ins2
insulin II
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11522680 PMID:24648896 PMID:25796170 PMID:33651899 PMID:3322910
RGD:2311112
NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
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Insr
insulin receptor
treatment disease_progression
IMP ISO
CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expression:liver (rat) ClinVar Annotator: match by term: Insulin resistance | ClinVar Annotator: match by term: Insulin-resistance syndrome type A
CTD ClinVar 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:23538485 PMID:26300412 More...
RGD:1302523 , RGD:10403037 , RGD:11529553
NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617
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Irs1
insulin receptor substrate 1
ISO
DNA:polymorphism:exon:G972R ClinVar Annotator: match by term: Insulin resistance, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD 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 1:82,210,826...82,269,160
Ensembl chr 1:82,210,822...82,269,137
G
Irs2
insulin receptor substrate 2
ISO
DNA:polymorphism:exon:G1057D CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25808216 PMID:15811564
RGD:1625025
NCBI chr 8:11,034,681...11,058,929
Ensembl chr 8:11,034,681...11,058,458
G
Itgam
integrin alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
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Kcnj11
potassium inwardly rectifying channel, subfamily J, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9032110
NCBI chr 7:45,746,545...45,750,215
Ensembl chr 7:45,743,377...45,750,188
G
Kcnmb1
potassium large conductance calcium-activated channel, subfamily M, beta member 1
ISO
mRNA, protein:decreased expression:aorta, mesenteric artery
RGD
PMID:21425425
RGD:10412047
NCBI chr11:33,912,955...33,923,641
Ensembl chr11:33,913,013...33,923,641
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Klf11
Kruppel-like transcription factor 11
ISO
RGD
PMID:18505768
RGD:2311539
NCBI chr12:24,701,370...24,712,781
Ensembl chr12:24,701,273...24,712,788
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Klf14
Kruppel-like transcription factor 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29632379
NCBI chr 6:30,932,956...30,935,925
Ensembl chr 6:30,932,958...30,936,013
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Klk1
kallikrein 1
ISO
RGD
PMID:17272402
RGD:1641794
NCBI chr 7:43,874,784...43,879,046
Ensembl chr 7:43,874,784...43,879,042
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Lep
leptin
ISO
protein:increased expression:plasma associated with Obesity DNA:nonsense mutation:cds: CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:10753628 PMID:11342529 PMID:24150608 PMID:29650965 PMID:19296906 PMID:19419916 PMID:23800849 More...
RGD:5128697 , RGD:2311127 , RGD:8549777
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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Lepr
leptin receptor
ISO
associated with Obesity;DNA:polymorphism: :p.K656N (human) associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K656N (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19452630 PMID:20567778 PMID:25367288 PMID:28611668 PMID:29988851 PMID:30689673 PMID:18413223 PMID:18632178 PMID:23154293 More...
RGD:2311142 , RGD:2311138 , RGD:13432147
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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Lipc
lipase, hepatic
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15504970
NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508
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Lmna
lamin A
ISO
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 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263
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Lpin1
lipin 1
ISO
RGD
PMID:17563064
RGD:1641822
NCBI chr12:16,585,670...16,697,020
Ensembl chr12:16,585,670...16,696,967
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Lpl
lipoprotein lipase
IAGP
RGD
PMID:18952837
RGD:2313300
NCBI chr 8:69,333,207...69,359,584
Ensembl chr 8:69,333,143...69,360,100
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Lta
lymphotoxin A
no_association
ISO
DNA:polymorphism
RGD
PMID:9245742
RGD:1625035
NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
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Mapk3
mitogen-activated protein kinase 3
treatment
ISO
associated with polycystic ovary syndrome
RGD
PMID:23349861
RGD:13800789
NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
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Mc4r
melanocortin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism DNA:nonsense mutation:cds:p.K314X (rat) mRNA, protein:decreased expression:liver (rat)
CTD RGD
PMID:18454146 PMID:24400148 PMID:35945320
RGD:13825242 , RGD:329951016
NCBI chr18:66,990,776...66,993,558
Ensembl chr18:66,990,775...66,993,577
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Metrnl
meteorin, glial cell differentiation regulator-like
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30213948
NCBI chr11:121,593,253...121,608,215
Ensembl chr11:121,592,370...121,607,132
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Mettl14
methyltransferase 14, N6-adenosine-methyltransferase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr 3:123,161,944...123,179,639
Ensembl chr 3:123,161,946...123,179,757
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Mfn2
mitofusin 2
treatment
ISO
RGD
PMID:24715199
RGD:13204838
NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161
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Mif
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
ISO
protein:increased expression:plasma
RGD
PMID:12552367
RGD:1641955
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
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Mir125a
microRNA 125a
IMP
RGD
PMID:31988048
RGD:21403676
NCBI chr17:18,051,074...18,051,141
Ensembl chr17:18,051,074...18,051,141
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Mir155
microRNA 155
ISO IMP
miRNA:increased expression:serum
RGD
PMID:29479888 PMID:27711113
RGD:24922220 , RGD:25671464
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mir222
microRNA 222
ISO
associated with polycystic ovary syndrome; RNA:increased expression:blood
RGD
PMID:33230470
RGD:151893462
NCBI chr X:19,013,132...19,013,210
Ensembl chr X:19,013,132...19,013,210
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Mlxipl
MLX interacting protein-like
treatment
ISO
RGD
PMID:26394137
RGD:329955565
NCBI chr 5:135,118,744...135,168,622
Ensembl chr 5:135,118,744...135,167,236
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Mlycd
malonyl-CoA decarboxylase
treatment
ISO
RGD
PMID:26394137
RGD:329955565
NCBI chr 8:120,121,591...120,148,577
Ensembl chr 8:120,121,617...120,137,841
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Mrc1
mannose receptor, C type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 2:14,234,225...14,336,834
Ensembl chr 2:14,234,203...14,336,868
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n-TUtca2
nuclear encoded tRNA selenocysteine 2 (anticodon TCA)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28228267
NCBI chr 7:19,035,169...19,035,255
G
Nampt
nicotinamide phosphoribosyltransferase
ISO
associated with Polycystic Ovary Syndrome;protein:increased expression:serum
RGD
PMID:17582143
RGD:1642341
NCBI chr12:32,870,334...32,903,368
Ensembl chr12:32,869,544...32,903,348
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Neil1
nei endonuclease VIII-like 1 (E. coli)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21285402
NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589
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Nfe2l2
nuclear factor, erythroid derived 2, like 2
ISO
associated with obesity; protein:decreased expression:hepatocyte: CTD Direct Evidence: therapeutic
CTD RGD
PMID:33933676 PMID:32102936
RGD:21201281
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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Nos2
nitric oxide synthase 2, inducible
ISO IMP
mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat)
RGD
PMID:22023455 PMID:21846719
RGD:5509041 , RGD:5509075
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nos3
nitric oxide synthase 3, endothelial cell
treatment
ISO
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 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Nppb
natriuretic peptide type B
ISO
associated with Obesity and Hypertension;protein:decreased expression:serum
RGD
PMID:17392814
RGD:1642192
NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
susceptibility
IAGP
RGD
PMID:16557297
RGD:1625076
NCBI chr10:89,290,096...89,369,484
Ensembl chr10:89,290,096...89,369,447
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Nr4a1
nuclear receptor subfamily 4, group A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17785466
NCBI chr15:101,151,783...101,172,676
Ensembl chr15:101,152,150...101,172,676
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Nr4a3
nuclear receptor subfamily 4, group A, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17785466
NCBI chr 4:48,045,098...48,086,446
Ensembl chr 4:48,045,153...48,086,447
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Nus1
NUS1 dehydrodolichyl diphosphate synthase subunit
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33812996
NCBI chr10:52,293,643...52,316,288
Ensembl chr10:52,293,643...52,316,279
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Parl
presenilin associated, rhomboid-like
ISO
mRNA:decreased expression:gastrocnemius (rat)
RGD
PMID:19859837
RGD:12880442
NCBI chr16:20,098,570...20,121,090
Ensembl chr16:20,098,568...20,121,137
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Pdx1
pancreatic and duodenal homeobox 1
IEP 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 chr 5:147,206,907...147,212,658
Ensembl chr 5:147,206,769...147,212,658
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
IAGP ISO
associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14714311 PMID:17283057 PMID:10426374 PMID:16332940
RGD:1625211 , RGD:1625262 , RGD:1625212
NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
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Pklr
pyruvate kinase liver and red blood cell
treatment
IEP ISO
mRNA, protein:decreased expression:liver
RGD
PMID:12958186 PMID:26394137
RGD:1625583 , RGD:329955565
NCBI chr 3:89,043,429...89,054,122
Ensembl chr 3:89,043,449...89,054,091
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Pla2g1b
phospholipase A2, group IB, pancreas
susceptibility
IMP
RGD
PMID:12376327
RGD:1302550
NCBI chr 5:115,604,201...115,612,781
Ensembl chr 5:115,604,321...115,612,781
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Plac8
placenta-specific 8
ISO
associated with obesity
RGD
PMID:26296322
RGD:10755343
NCBI chr 5:100,699,455...100,720,119
Ensembl chr 5:100,701,591...100,720,111
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Plekhs1
pleckstrin homology domain containing, family S member 1
ISO
associated with obesity;
RGD
PMID:27523322
RGD:11532750
NCBI chr19:56,445,705...56,475,161
Ensembl chr19:56,450,072...56,475,184
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Plin2
perilipin 2
IDA
associated with Obesity
RGD
PMID:17484887
RGD:1625752
NCBI chr 4:86,545,147...86,588,518
Ensembl chr 4:86,566,623...86,588,297
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Pltp
phospholipid transfer protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754275
NCBI chr 2:164,681,441...164,699,564
Ensembl chr 2:164,681,438...164,699,631
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Pmch
pro-melanin-concentrating hormone
ISO
RGD
PMID:16002548
RGD:1642484
NCBI chr10:87,926,934...87,928,236
Ensembl chr10:87,926,934...87,928,237
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Pon1
paraoxonase 1
ISO
DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001)
RGD
PMID:11788650
RGD:1642617
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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Ppara
peroxisome proliferator activated receptor alpha
IDA ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:16168052 PMID:21324916 PMID:19322024
RGD:5683642
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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Ppard
peroxisome proliferator activator receptor delta
IDA
associated with Diabetes Mellitus, Non-Insulin-Dependent associated with Obesity
RGD
PMID:19818749 PMID:14676330
RGD:2313780 , RGD:2324897
NCBI chr17:28,451,715...28,520,446
Ensembl chr17:28,451,674...28,520,448
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Pparg
peroxisome proliferator activated receptor gamma
ISO
DNA:nonsense mutation CTD Direct Evidence: therapeutic
CTD RGD
PMID:16168052 PMID:21354099 PMID:21484566 PMID:12118251
RGD:1601446
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Ppargc1a
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
treatment
ISO
DNA:missense mutation:cds:p.G482S rs8192678 (human) mRNA:decreased expression:liver (rat)
RGD
PMID:23449621 PMID:22658649 PMID:26394137
RGD:7241821 , RGD:7242170 , RGD:329955565
NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068
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Ppargc1b
peroxisome proliferative activated receptor, gamma, coactivator 1 beta
treatment
ISO
RGD
PMID:16896940 PMID:26394137
RGD:1642499 , RGD:329955565
NCBI chr18:61,424,516...61,533,846
Ensembl chr18:61,431,207...61,533,502
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Ppp1r3a
protein phosphatase 1, regulatory subunit 3A
ISO
DNA:polymorphism:exon:p.D905Y (human) DNA:nonsense mutation ClinVar Annotator: match by term: Insulin resistance, susceptibility to
ClinVar RGD
PMID:7581368 PMID:25741868 PMID:7581368 PMID:12118251
RGD:1601468 , RGD:1601446
NCBI chr 6:14,713,821...14,755,273
Ensembl chr 6:14,713,976...14,755,273
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Prdx3
peroxiredoxin 3
ISO
associated with obesity;
RGD
PMID:27523322
RGD:11532750
NCBI chr19:60,852,504...60,862,976
Ensembl chr19:60,852,489...60,862,994
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Prkaa1
protein kinase, AMP-activated, alpha 1 catalytic subunit
ISO
associated with Obesity CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19934007 PMID:22231922
RGD:6484545
NCBI chr15:5,172,641...5,211,380
Ensembl chr15:5,173,343...5,211,380
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Prkaa2
protein kinase, AMP-activated, alpha 2 catalytic subunit
susceptibility
ISO
DNA:SNPs CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19934007 PMID:16567511
RGD:1625266
NCBI chr 4:104,886,846...104,967,095
Ensembl chr 4:104,887,071...104,967,087
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Prkar1a
protein kinase, cAMP dependent regulatory, type I, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29367455
NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482
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Prkcb
protein kinase C, beta
ISO
RGD
PMID:12665248
RGD:1625515
NCBI chr 7:121,888,327...122,233,625
Ensembl chr 7:121,887,974...122,233,625
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Prkcd
protein kinase C, delta
ISO IMP
protein:altered localization:nucleus associated with Obesity;protein:increased activity:adipocyte
RGD
PMID:12217885 PMID:15507533
RGD:729667 , RGD:1642527
NCBI chr14:30,317,310...30,348,637
Ensembl chr14:30,317,311...30,348,167
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Prkcq
protein kinase C, theta
ISO
associated with Obesity;protein:decreased expression:skeletal muscle protein:altered localization:skeletal muscle
RGD
PMID:10923637 PMID:9000691
RGD:1625603 , RGD:1625604
NCBI chr 2:11,176,922...11,306,033
Ensembl chr 2:11,176,919...11,306,033
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Prkcz
protein kinase C, zeta
ISO
RGD
PMID:12882908
RGD:1642650
NCBI chr 4:155,344,579...155,445,856
Ensembl chr 4:155,344,586...155,445,818
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Prkd1
protein kinase D1
susceptibility
ISO
human gene in a mouse model
RGD
PMID:25173922
RGD:307436943
NCBI chr12:50,388,009...50,696,075
Ensembl chr12:50,388,014...50,695,881
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Prl
prolactin
ISO
associated with Hyperprolactinemia
RGD
PMID:3888755
RGD:1642560
NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188
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Prmt7
protein arginine N-methyltransferase 7
ISO
ClinVar Annotator: match by term: Insulin resistance
ClinVar
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392
NCBI chr 8:106,937,686...106,978,326
Ensembl chr 8:106,937,568...106,979,426
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Pten
phosphatase and tensin homolog
ISO
protein:increased expression, decreased acetylation:liver CTD Direct Evidence: marker/mechanism protein:increased activity:liver (human)
CTD RGD
PMID:18303120 PMID:18385463 PMID:24367090
RGD:2292521 , RGD:127285595
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Ptgds
prostaglandin D2 synthase (brain)
susceptibility
IAGP
RGD
PMID:15970590
RGD:1642581
NCBI chr 2:25,356,723...25,360,080
Ensembl chr 2:25,356,721...25,360,058
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Ptgis
prostaglandin I2 (prostacyclin) synthase
ISO
protein:decreased activity:aorta (rat)
RGD
PMID:16528409
RGD:401960098
NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524
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Ptk2b
PTK2 protein tyrosine kinase 2 beta
IAGP
associated with Obesity
RGD
PMID:16039993
RGD:1642605
NCBI chr14:66,390,706...66,518,549
Ensembl chr14:66,390,706...66,518,501
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Ptpn1
protein tyrosine phosphatase, non-receptor type 1
ISO
DNA:insertion:3'utr:1484insG ClinVar Annotator: match by term: Insulin resistance, susceptibility to CTD Direct Evidence: marker/mechanism associated with congestive heart failure;protein:increased expression, increased activity:heart (rat)
ClinVar CTD RGD
PMID:10744717 PMID:11833006 PMID:11833006 PMID:29929988
RGD:1625240 , RGD:401965403
NCBI chr 2:167,772,670...167,821,305
Ensembl chr 2:167,773,977...167,821,305
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Ptprf
protein tyrosine phosphatase receptor type F
ISO
mouse model overexpressing human transgene
RGD
PMID:11309481 PMID:9218523
RGD:1642735 , RGD:1642733
NCBI chr 4:118,065,410...118,148,602
Ensembl chr 4:118,065,410...118,148,602
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Pyy
peptide YY
ISO
protein:decreased expression
RGD
PMID:17045646
RGD:1625281
NCBI chr11:101,997,502...101,998,658
Ensembl chr11:101,997,502...101,998,658
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Rb1
RB transcriptional corepressor 1
ISO
mRNA:decreased expression:adipose tissue
RGD
PMID:23315497
RGD:8547988
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Rbp4
retinol binding protein 4, plasma
disease_progression ameliorates
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:29747616 PMID:21365528
RGD:329849113 , RGD:329853304
NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
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Rela
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
IEP ISO
protein:altered localization:soleus
RGD
PMID:18198644 PMID:18073321
RGD:2298857 , RGD:2298860
NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
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Retn
resistin
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16493877 PMID:18789551
RGD:2313499
NCBI chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110
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Rrad
Ras-related associated with diabetes
ISO
RGD
PMID:16537411
RGD:2311703
NCBI chr 8:105,354,702...105,357,921
Ensembl chr 8:105,354,702...105,357,959
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Scd1
stearoyl-Coenzyme A desaturase 1
treatment
EXP ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:21661758 PMID:26394137
RGD:329955565
NCBI chr19:44,382,889...44,396,148
Ensembl chr19:44,382,894...44,396,318
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Selenop
selenoprotein P
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14714311
NCBI chr15:3,300,249...3,309,992
Ensembl chr15:3,298,029...3,309,990
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
treatment
ISO
mRNA:increased expression:white adipose tissue (rat)
RGD
PMID:19776253 PMID:26188590
RGD:8547949 , RGD:11073726
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
treatment
ISO
associated with Hypertension human protein in a rat model
RGD
PMID:19073347 PMID:24288442 PMID:22714715
RGD:2312339 , RGD:8642993 , RGD:8655563
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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Shc1
src homology 2 domain-containing transforming protein C1
ISO
mRNA:increased expression:adipose tissue
RGD
PMID:17986714
RGD:1643171
NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334
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Sirt1
sirtuin 1
treatment
ISO
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 chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
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Sirt4
sirtuin 4
ISO
RGD
PMID:20651844
RGD:9586052
NCBI chr 5:115,616,065...115,628,322
Ensembl chr 5:115,616,069...115,622,784
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Sis
sucrase isomaltase
ISO
associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine
RGD
PMID:9878708
RGD:1625544
NCBI chr 3:72,795,890...72,875,196
Ensembl chr 3:72,795,890...72,875,196
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Slc27a1
solute carrier family 27 (fatty acid transporter), 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 chr 8:72,021,372...72,039,951
Ensembl chr 8:72,021,526...72,039,946
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Slc27a4
solute carrier family 27 (fatty acid transporter), member 4
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:15168018
RGD:1625638
NCBI chr 2:29,692,646...29,707,534
Ensembl chr 2:29,692,646...29,707,534
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Slc2a3
solute carrier family 2 (facilitated glucose transporter), member 3
ISO
RGD
PMID:11436180
RGD:1642802
NCBI chr 6:122,704,783...122,779,149
Ensembl chr 6:122,704,768...122,778,599
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Slc2a4
solute carrier family 2 (facilitated glucose transporter), member 4
ISO
associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle CTD Direct Evidence: therapeutic
CTD RGD
PMID:11947963 PMID:18778861
RGD:2313624
NCBI chr11:69,833,112...69,839,040
Ensembl chr11:69,833,365...69,839,014
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Socs1
suppressor of cytokine signaling 1
IMP
associated with Diabetes Mellitus
RGD
PMID:15240880
RGD:1625677
NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400
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Socs3
suppressor of cytokine signaling 3
susceptibility
IMP IAGP
associated with Diabetes Mellitus associated with Obesity
RGD
PMID:15240880 PMID:17295835
RGD:1625677 , RGD:2313789
NCBI chr11:117,856,905...117,860,192
Ensembl chr11:117,856,905...117,860,873
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Sod2
superoxide dismutase 2, mitochondrial
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22829583
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Sod3
superoxide dismutase 3, extracellular
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma
RGD
PMID:15171689
RGD:1625698
NCBI chr 5:52,521,146...52,527,080
Ensembl chr 5:52,521,133...52,528,760
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Sorbs1
sorbin and SH3 domain containing 1
susceptibility
IAGP
RGD
PMID:17351624
RGD:1642731
NCBI chr19:40,280,484...40,502,399
Ensembl chr19:40,283,197...40,502,223
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Sox6
SRY (sex determining region Y)-box 6
IDA
RGD
PMID:16148004
RGD:1581307
NCBI chr 7:115,070,107...115,639,186
Ensembl chr 7:115,070,107...115,638,031
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Sqstm1
sequestosome 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33933676
NCBI chr11:50,090,979...50,105,303
Ensembl chr11:50,090,193...50,101,654
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Srebf1
sterol regulatory element binding transcription factor 1
susceptibility treatment
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP associated with Fatty Liver;mRNA:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22658938 PMID:18692268 PMID:17241878 PMID:26394137
RGD:2308809 , RGD:2308807 , RGD:329955565
NCBI chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407
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Srebf2
sterol regulatory element binding factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20699619
NCBI chr15:82,031,455...82,089,580
Ensembl chr15:82,031,382...82,089,580
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Stk11
serine/threonine kinase 11
ISO
associated with obesity;protein:decreased expression:gastrocnemius
RGD
PMID:16352671
RGD:1601389
NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516
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Sts
steroid sulfatase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24497646
NCBI chr X:168,856,332...169,015,037
Ensembl chr X:168,909,030...169,014,924
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Syn1
synapsin I
ISO
RGD
PMID:29566703
RGD:13542091
NCBI chr X:20,726,750...20,787,157
Ensembl chr X:20,726,750...20,787,243
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Tbc1d4
TBC1 domain family, member 4
ISO
ClinVar Annotator: match by term: Insulin resistance
ClinVar
NCBI chr14:101,679,800...101,846,717
Ensembl chr14:101,679,796...101,846,627
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Tcf7l2
transcription factor 7 like 2, T cell specific, HMG box
ISO
DNA:SNP (human)
RGD
PMID:19509102
RGD:2312433
NCBI chr19:55,730,227...55,922,091
Ensembl chr19:55,730,252...55,922,086
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Tfap2b
transcription factor AP-2 beta
ISO
RGD
PMID:16373417
RGD:1601544
NCBI chr 1:19,279,132...19,309,071
Ensembl chr 1:19,279,138...19,308,800
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Thbd
thrombomodulin
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:11453033
RGD:2312460
NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
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Tlr4
toll-like receptor 4
severity
IAGP ISO
associated with Obesity protein:increased expression:skeletal muscle
RGD
PMID:19675137 PMID:18633101 PMID:17426960
RGD:2312483 , RGD:2312489 , RGD:1620681
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tnf
tumor necrosis factor
treatment
ISO
associated with Obesity CTD Direct Evidence: marker/mechanism associated with obesity
CTD RGD
PMID:16493877 PMID:20943792 PMID:14764603 PMID:25016878 PMID:9832430
RGD:1580214 , RGD:10450578 , RGD:14995428
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf11b
tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)
ISO
associated with obesity;protein:increased expression:serum
RGD
PMID:15936463
RGD:1620889
NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880
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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression
RGD
PMID:11882518
RGD:1624180
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Trf
transferrin
ISO
protein:increased expression:plasma
RGD
PMID:17350134
RGD:1601515
NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
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Trib3
tribbles pseudokinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20461355
NCBI chr 2:152,179,345...152,185,980
Ensembl chr 2:152,179,342...152,185,952
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Tsc1
TSC complex subunit 1
IAGP
RGD
PMID:15380067
RGD:1624197
NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179
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Ucp1
uncoupling protein 1 (mitochondrial, proton carrier)
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human)
RGD
PMID:16338218
RGD:1624979
NCBI chr 8:84,016,977...84,025,085
Ensembl chr 8:84,016,981...84,025,081
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Ucp2
uncoupling protein 2 (mitochondrial, proton carrier)
ISO
DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human)
RGD
PMID:17870627
RGD:2313512
NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227
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Ucp3
uncoupling protein 3 (mitochondrial, proton carrier)
ISO
DNA:polymorphism:promoter:-55C>T (human)
RGD
PMID:17870627 PMID:17571165
RGD:2313512 , RGD:2313515
NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639
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Vcam1
vascular cell adhesion molecule 1
ISO
RGD
PMID:11882338
RGD:1580351
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
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Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
IMP
RGD
PMID:25801026
RGD:14402022
NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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Vwf
Von Willebrand factor
ISO
protein:increased expression:plasma
RGD
PMID:16631442
RGD:1625711
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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Xbp1
X-box binding protein 1
treatment
IMP ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:27325692 PMID:15486293 PMID:26394137
RGD:2326004 , RGD:329955565
NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893
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Zc3h10
zinc finger CCCH type containing 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31775033
NCBI chr10:128,379,429...128,383,877
Ensembl chr10:128,377,832...128,383,643
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Ctf1
cardiotrophin 1
IAGP
MouseDO
NCBI chr 7:127,311,872...127,317,360
Ensembl chr 7:127,311,908...127,317,364
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Gucy2c
guanylate cyclase 2c
IAGP
MouseDO
NCBI chr 6:136,674,282...136,758,740
Ensembl chr 6:136,674,282...136,758,763
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Lep
leptin
IAGP
MouseDO
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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Neil1
nei endonuclease VIII-like 1 (E. coli)
IAGP
MouseDO
NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309680
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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Pparg
peroxisome proliferator activated receptor gamma
IAGP
MouseDO
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Ppargc1a
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
ISO
mRNA:increased expression:gastrocnemius muscle (rat)
RGD
PMID:23320128
RGD:7241841
NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068
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Prkci
protein kinase C, iota
IAGP
MouseDO
NCBI chr 3:31,049,893...31,106,889
Ensembl chr 3:31,049,896...31,107,108
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Sirt3
sirtuin 3
IAGP
MouseDO
NCBI chr 7:140,443,576...140,462,222
Ensembl chr 7:140,443,579...140,462,222
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Slc2a9
solute carrier family 2 (facilitated glucose transporter), member 9
IAGP
MouseDO
NCBI chr 5:38,506,616...38,660,488
Ensembl chr 5:38,506,616...38,660,486
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Atp2a2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ISO
protein:increased oxidation:cardiac muscle cell
RGD
PMID:23997093
RGD:13782087
NCBI chr 5:122,591,576...122,640,288
Ensembl chr 5:122,591,576...122,640,288
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Bax
BCL2-associated X protein
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
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Bcl2
B cell leukemia/lymphoma 2
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Fadd
Fas associated via death domain
treatment
ISO
RGD
PMID:27131981
RGD:13792503
NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200
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Fas
Fas cell surface death receptor
ISO
RGD
PMID:30172001
RGD:13792561
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Lep
leptin
IAGP
OMIM:605552
MouseDO
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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Lpl
lipoprotein lipase
treatment
ISO
RGD
PMID:26996629
RGD:13794382
NCBI chr 8:69,333,207...69,359,584
Ensembl chr 8:69,333,143...69,360,100
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Mttp
microsomal triglyceride transfer protein
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1
ClinVar
PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 PMID:25741868 PMID:27578136 PMID:28492532 PMID:30522860 PMID:33258201 More...
NCBI chr 3:137,795,616...137,849,179
Ensembl chr 3:137,795,615...137,850,729
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Tlr2
toll-like receptor 2
susceptibility
IMP
RGD
PMID:19841034
RGD:15090861
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Trp53inp1
transformation related protein 53 inducible nuclear protein 1
IAGP
OMIM:605552
MouseDO
NCBI chr 4:11,156,441...11,174,379
Ensembl chr 4:11,156,431...11,174,379
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Ahdc1
AT hook, DNA binding motif, containing 1
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3
ClinVar
PMID:25741868 PMID:29696776 PMID:33644933
NCBI chr 4:132,738,797...132,805,421
Ensembl chr 4:132,738,571...132,805,421
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Dyrk1b
dual-specificity tyrosine phosphorylation regulated kinase 1b
ISO
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
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:28492532 PMID:32041611 More...
NCBI chr 7:27,878,880...27,896,896
Ensembl chr 7:27,878,894...27,886,719
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Cela2a
chymotrypsin-like elastase family, member 2A
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4
OMIM ClinVar
PMID:25741868 PMID:31358993
NCBI chr 4:141,542,265...141,553,316
Ensembl chr 4:141,542,273...141,553,471
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Insr
insulin receptor
ISO
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
OMIM ClinVar CTD
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 chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617
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Lmna
lamin A
ISO
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 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263
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Abca1
ATP-binding cassette, sub-family A member 1
susceptibility
ISO
DNA:SNP:exon:p.R230C (rs9282541) (human)
RGD
PMID:17287470
RGD:1601092
NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
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Acaca
acetyl-Coenzyme A carboxylase alpha
ameliorates
IEP ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438 PMID:27821167
RGD:329333017 , RGD:401799622
NCBI chr11:84,020,461...84,292,477
Ensembl chr11:84,020,498...84,292,477
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Acacb
acetyl-Coenzyme A carboxylase beta
IEP
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438
RGD:329333017
NCBI chr 5:114,284,748...114,388,822
Ensembl chr 5:114,284,596...114,388,822
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Acadvl
acyl-Coenzyme A dehydrogenase, very long chain
treatment
ISO
RGD
PMID:25191539
RGD:10047118
NCBI chr11:69,901,009...69,906,254
Ensembl chr11:69,901,009...69,906,237
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Acat2
acetyl-Coenzyme A acetyltransferase 2
susceptibility
ISO
DNA:polymorphism
RGD
PMID:14557872
RGD:1581921
NCBI chr17:13,161,929...13,179,612
Ensembl chr17:13,161,777...13,179,634
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO IMP
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 chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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Adrb2
adrenergic receptor, beta 2
susceptibility
ISO
DNA:polymorphisms: :p.R16G, p.Q27E
RGD GAD
PMID:14557466 PMID:15118671
RGD:1601127 , RGD:1331525
NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
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Agt
angiotensinogen
ISO
mRNA, protein:increased expression:adipose tissue
RGD
PMID:17260464
RGD:1601134
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Agtr1a
angiotensin II receptor, type 1a
susceptibility
ISO
DNA:snp:3' utr:c.5186A>C
RGD
PMID:17211857
RGD:1601146
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
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Akp3
alkaline phosphatase 3, intestine, not Mn requiring
IMP
RGD
PMID:23569246
RGD:14349049
NCBI chr 1:87,052,676...87,056,450
Ensembl chr 1:87,052,695...87,055,634
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Aldoa
aldolase A, fructose-bisphosphate
ISO
mRNA:increased expression:aorta
RGD
PMID:21890532
RGD:13673877
NCBI chr 7:126,394,406...126,399,537
Ensembl chr 7:126,394,406...126,399,923
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Alpl
alkaline phosphatase, liver/bone/kidney
susceptibility
ISO
protein:increased expression:serum
RGD
PMID:16249437
RGD:1601174
NCBI chr 4:137,469,042...137,523,695
Ensembl chr 4:137,469,044...137,523,695
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Apoa1
apolipoprotein A-I
ISO
protein:decreased expression:serum (human) DNA: polymorphism: :G2, G3 and G5
RGD
PMID:17217166 PMID:21410987
RGD:1601183 , RGD:5508220
NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
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Apoa2
apolipoprotein A-II
ISO
protein:decreased expression:serum
RGD
PMID:19817643
RGD:2313955
NCBI chr 1:171,049,133...171,053,948
Ensembl chr 1:171,052,623...171,053,948
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Apoa5
apolipoprotein A-V
susceptibility
ISO
DNA:polymorphism: :p.S19W (human)
RGD
PMID:18789138
RGD:2313315
NCBI chr 9:46,179,906...46,183,219
Ensembl chr 9:46,179,931...46,183,217
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Apob
apolipoprotein B
ISO
protein:increased expression:plasma
RGD
PMID:16828905
RGD:1601198
NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
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Apoc3
apolipoprotein C-III
susceptibility
ISO
protein:increased expression:serum (human) DNA:polymorphism:promoter:-482C>T, -455T>C
RGD
PMID:16298371 PMID:17416293
RGD:2306766 , RGD:1601223
NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934
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Apom
apolipoprotein M
ISO
protein:decreased expression:plasma
RGD
PMID:19539616
RGD:2314236
NCBI chr17:35,347,973...35,350,777
Ensembl chr17:35,347,973...35,351,026
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Atm
ataxia telangiectasia mutated
IDA
RGD
PMID:17084711
RGD:1601248
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Atp12a
ATPase, H+/K+ transporting, nongastric, alpha polypeptide
ISO
RGD
PMID:23320804
RGD:13838660
NCBI chr14:56,602,525...56,626,008
Ensembl chr14:56,602,525...56,626,007
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Bche
butyrylcholinesterase
ISO
protein:increased expression:serum
RGD
PMID:15907830
RGD:1601317
NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
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Bdnf
brain derived neurotrophic factor
ISO
RGD
PMID:11935372
RGD:1580935
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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Bglap
bone gamma carboxyglutamate protein
ISO
protein:decreased expression:serum
RGD
PMID:21760737
RGD:6483594
NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771
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C3
complement component 3
ISO
RGD
PMID:16488421
RGD:2314030
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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Capn10
calpain 10
ISO
DNA:polymorphism
RGD
PMID:16546286
RGD:1625050
NCBI chr 1:92,862,130...92,875,670
Ensembl chr 1:92,862,098...92,875,663
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Cck
cholecystokinin
ISO
RGD
PMID:17443025
RGD:1625798
NCBI chr 9:121,318,890...121,324,728
Ensembl chr 9:121,318,890...121,324,760
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16188961 PMID:18486454
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:plasma (rat)
RGD
PMID:19905967
RGD:4889977
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Cd163
CD163 antigen
susceptibility
ISO
protein:increased expression:blood serum (human)
RGD
PMID:31027316
RGD:127345132
NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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Cd36
CD36 molecule
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:9916795 PMID:18305138
RGD:619666 , RGD:2307208
NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799
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Cd40lg
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:16423632 PMID:20006362
RGD:2314214 , RGD:5490591
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cela2a
chymotrypsin-like elastase family, member 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31358993
NCBI chr 4:141,542,265...141,553,316
Ensembl chr 4:141,542,273...141,553,471
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Chek2
checkpoint kinase 2
ISO
mRNA:increased expression:heart left ventricle (rat)
RGD
PMID:25129990
RGD:10400905
NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011
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Ciita
class II transactivator
ISO
DNA:polymorphism:promoter:-168A>G (human)
RGD
PMID:17183695
RGD:5491201
NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282
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Crp
C-reactive protein, pentraxin-related
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16644639 PMID:21357282
RGD:6482318
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Cst3
cystatin C
ISO
protein:increased expression:serum (human)
RGD
PMID:19887833
RGD:2314295
NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612
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Cyba
cytochrome b-245, alpha polypeptide
ISO
RGD
PMID:16741160
RGD:2317864
NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
susceptibility
ISO
DNA:polymorphism:promoter:-344C>T (human)
RGD
PMID:17261471
RGD:2307294
NCBI chr15:74,722,467...74,728,080
Ensembl chr15:74,722,467...74,728,167
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Cyp7a1
cytochrome P450, family 7, subfamily a, polypeptide 1
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 4:6,265,612...6,275,632
Ensembl chr 4:6,265,612...6,275,633
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Ddr1
discoidin domain receptor family, member 1
IMP
RGD
PMID:32360427
RGD:151347874
NCBI chr17:35,992,459...36,015,633
Ensembl chr17:35,992,459...36,015,513
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Dgat1
diacylglycerol O-acyltransferase 1
treatment
IMP
RGD
PMID:21990351
RGD:10401057
NCBI chr15:76,386,215...76,396,167
Ensembl chr15:76,386,215...76,396,153
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Dio2
deiodinase, iodothyronine, type II
ISO
DNA:polymorphism: :p.T92A (human)
RGD
PMID:18198294
RGD:2313696
NCBI chr12:90,691,326...90,705,812
Ensembl chr12:90,691,326...90,705,812
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Ephx2
epoxide hydrolase 2, cytoplasmic
ISO
RGD
PMID:22007192
RGD:5688391
NCBI chr14:66,321,821...66,361,971
Ensembl chr14:66,321,823...66,361,949
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F3
coagulation factor III
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:12417540
RGD:2313865
NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
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Fabp2
fatty acid binding protein 2, intestinal
ISO
RGD
PMID:16919542
RGD:1626401
NCBI chr 3:122,688,721...122,693,155
Ensembl chr 3:122,688,721...122,693,155
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Fabp4
fatty acid binding protein 4, adipocyte
ISO
protein:increased expression:serum
RGD
PMID:16919044
RGD:1625406
NCBI chr 3:10,269,406...10,273,653
Ensembl chr 3:10,269,148...10,273,636
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Fadd
Fas associated via death domain
ISO
protein:increased expression:heart left ventricle
RGD
PMID:23657904
RGD:11344884
NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200
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Fas
Fas cell surface death receptor
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:11934685
RGD:628329
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fasn
fatty acid synthase
ameliorates
IEP ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438 PMID:31353547 PMID:27821167
RGD:329333017 , RGD:401850595 , RGD:401799622
NCBI chr11:120,696,784...120,715,992
Ensembl chr11:120,696,672...120,715,373
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Fgf15
fibroblast growth factor 15
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28673684
NCBI chr 7:144,450,269...144,454,690
Ensembl chr 7:144,450,268...144,454,690
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Fgf21
fibroblast growth factor 21
treatment
IDA
RGD
PMID:25306889
RGD:10401890
NCBI chr 7:45,263,314...45,264,914
Ensembl chr 7:45,263,310...45,264,914
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Fto
FTO alpha-ketoglutarate dependent dioxygenase
ISO
DNA:SNPs: :rs1421085, rs1558902, rs8050136, rs9939609 (human) DNA:SNP: :rs9939973 (human)
RGD
PMID:21796137 PMID:32061761
RGD:329853776 , RGD:329901771
NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067
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G6pc1
glucose-6-phosphatase catalytic subunit 1
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr11:101,258,542...101,268,729
Ensembl chr11:101,258,387...101,268,729
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G6pdx
glucose-6-phosphate dehydrogenase X-linked
treatment
ISO
RGD
PMID:19374165 PMID:24868532
RGD:2307350 , RGD:10449117
NCBI chr X:73,453,089...73,472,486
Ensembl chr X:73,453,089...73,472,800
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Gcg
glucagon
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 2:62,304,874...62,313,997
Ensembl chr 2:62,304,874...62,313,994
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Gch1
GTP cyclohydrolase 1
treatment
ISO
RGD
PMID:34200262
RGD:329970293
NCBI chr14:47,391,352...47,426,870
Ensembl chr14:47,391,352...47,426,870
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Gck
glucokinase
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr11:5,850,816...5,900,081
Ensembl chr11:5,850,820...5,900,081
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Gckr
glucokinase regulatory protein
ISO
RGD
PMID:19861489
RGD:7242423
NCBI chr 5:31,454,594...31,484,646
Ensembl chr 5:31,454,787...31,484,658
G
Ggt1
gamma-glutamyltransferase 1
susceptibility
ISO
RGD
PMID:17095717 PMID:24847614
RGD:1601300 , RGD:14747015
NCBI chr10:75,396,910...75,422,027
Ensembl chr10:75,397,438...75,422,034
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Ghrl
ghrelin
ISO
associated with Kidney Diseases;protein:decreased expression:serum ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to In peritoneal dialysis patients DNA:polymorphisms
ClinVar RGD
PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 PMID:25741868 PMID:18996292 PMID:18552255 PMID:16204371 More...
RGD:2313748 , RGD:7242555 , RGD:1625021
NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
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Gpr17
G protein-coupled receptor 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34144038
NCBI chr18:32,076,052...32,082,925
Ensembl chr18:32,076,050...32,082,689
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Gpx3
glutathione peroxidase 3
ISO
protein:increased expression:serum
RGD
PMID:24819036
RGD:401827122
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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Gsn
gelsolin
severity
IMP
RGD
PMID:29684438
RGD:329333017
NCBI chr 2:35,146,371...35,197,914
Ensembl chr 2:35,146,392...35,197,904
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Gstm1
glutathione S-transferase, mu 1
ISO
RGD
PMID:29452132
RGD:14700976
NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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Hdac3
histone deacetylase 3
ISO
RGD
PMID:21763752
RGD:9590183
NCBI chr18:38,070,024...38,088,073
Ensembl chr18:38,068,897...38,088,069
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Hgf
hepatocyte growth factor
ISO
RGD
PMID:15713721
RGD:1642702
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
G
Hmga1
high mobility group AT-hook 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23512162
NCBI chr17:27,774,798...27,782,649
Ensembl chr17:27,775,471...27,782,648
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Hmgcr
3-hydroxy-3-methylglutaryl-Coenzyme A reductase
ameliorates
ISO IEP
RGD
PMID:19461650 PMID:31353547 PMID:27821167
RGD:5508692 , RGD:401850595 , RGD:401799622
NCBI chr13:96,785,470...96,807,444
Ensembl chr13:96,785,475...96,807,444
G
Hmox1
heme oxygenase 1
treatment
ISO
RGD
PMID:22193921
RGD:10763276
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Hnf4a
hepatic nuclear factor 4, alpha
ISO
RGD
PMID:16804065
RGD:1601642
NCBI chr 2:163,348,731...163,414,827
Ensembl chr 2:163,348,728...163,414,830
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Hp
haptoglobin
treatment
ISO
protein:increased expression
RGD
PMID:17007284 PMID:20508159
RGD:1626341 , RGD:11041859
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
disease_progression susceptibility
ISO
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:14697232 PMID:23007990 PMID:23869418 PMID:21622477 PMID:28750217
RGD:1625074 , RGD:329901930 , RGD:329901929 , RGD:329901919 , RGD:329901909
NCBI chr 1:192,903,917...192,946,345
Ensembl chr 1:192,903,942...192,946,383
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Htr2c
5-hydroxytryptamine (serotonin) receptor 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17632216 PMID:18515891 PMID:19142101
NCBI chr X:145,745,509...145,980,273
Ensembl chr X:145,745,509...145,980,273
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:19394054
RGD:2313467
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Idh2
isocitrate dehydrogenase 2 (NADP+), mitochondrial
susceptibility
IMP
RGD
PMID:31064654
RGD:14985252
NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140
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Igf2
insulin-like growth factor 2
ISO
DNA:insertion
RGD
PMID:18418699
RGD:2311520
NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553
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Igfbp2
insulin-like growth factor binding protein 2
ISO
RGD
PMID:16915540
RGD:1626481
NCBI chr 1:72,863,650...72,891,633
Ensembl chr 1:72,863,662...72,891,633
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Il18
interleukin 18
treatment
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16644639 PMID:19717152 PMID:24456735
RGD:4889401 , RGD:8655985
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16644639
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Il6ra
interleukin 6 receptor, alpha
susceptibility
ISO
DNA:polymorphism: :p.D358A
RGD
PMID:16817825
RGD:1625430
NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
G
Inppl1
inositol polyphosphate phosphatase-like 1
ISO
DNA:SNPs: :rs2276047,snp8(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15220217 PMID:15220217
RGD:1626127
NCBI chr 7:101,471,839...101,487,419
Ensembl chr 7:101,471,839...101,487,436
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Ins2
insulin II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11274935 PMID:16259526
NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
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Insr
insulin receptor
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617
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Irs1
insulin receptor substrate 1
ameliorates
ISO IDA
protein:decreased expression:skeletal muscle
RGD
PMID:10842668 PMID:31353547
RGD:6482864 , RGD:401850595
NCBI chr 1:82,210,826...82,269,160
Ensembl chr 1:82,210,822...82,269,137
G
Irs2
insulin receptor substrate 2
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 8:11,034,681...11,058,929
Ensembl chr 8:11,034,681...11,058,458
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Itgav
integrin alpha V
ISO
RGD
PMID:16784924
RGD:1627640
NCBI chr 2:83,554,796...83,637,261
Ensembl chr 2:83,554,741...83,637,260
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Kl
klotho
ISO IMP
mRNA:decreased expression:kidney:
RGD
PMID:11027545 PMID:11027545
RGD:10403056 , RGD:10403056
NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282
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Lbp
lipopolysaccharide binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349936
NCBI chr 2:158,148,413...158,174,772
Ensembl chr 2:158,148,413...158,174,772
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Ldlr
low density lipoprotein receptor
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215
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Lep
leptin
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 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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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 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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Lipe
lipase, hormone sensitive
IEP
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438
RGD:329333017
NCBI chr 7:25,078,952...25,097,911
Ensembl chr 7:25,078,952...25,098,135
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Lipg
lipase, endothelial
ISO
RGD
PMID:16354105
RGD:1580865
NCBI chr18:75,072,393...75,095,380
Ensembl chr18:75,072,393...75,094,334
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Lmna
lamin A
ISO
DNA:SNP: :c.138747C>T (human)
RGD
PMID:15205219
RGD:2306121
NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263
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Lrp6
low density lipoprotein receptor-related protein 6
ISO
DNA:missense mutation:cds
RGD
PMID:17332414
RGD:2298725
NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928
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Lrpap1
low density lipoprotein receptor-related protein associated protein 1
susceptibility
ISO
associated with Coronary Disease;DNA:SNP:exon
RGD
PMID:14557872
RGD:1581921
NCBI chr 5:35,248,834...35,263,043
Ensembl chr 5:35,248,845...35,263,110
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Map2k2
mitogen-activated protein kinase kinase 2
ISO
mRNA:decreased expression:blood, leukocyte (human)
RGD
PMID:26956845
RGD:155791561
NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809
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Mir122
microRNA 122
ISO
miRNA:increased expression:serum
RGD
PMID:27899485
RGD:14401601
NCBI chr18:65,381,932...65,381,997
Ensembl chr18:65,381,932...65,381,997
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Mlxipl
MLX interacting protein-like
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr 5:135,118,744...135,168,622
Ensembl chr 5:135,118,744...135,167,236
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Mtmr9
myotubularin related protein 9
ISO
DNA:SNP: :rs2293855 (human)
RGD
PMID:21796137
RGD:329853776
NCBI chr14:63,757,100...63,781,402
Ensembl chr14:63,757,100...63,781,431
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Mttp
microsomal triglyceride transfer protein
ISO
ClinVar Annotator: match by term: Metabolic syndrome X
ClinVar
PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 PMID:25741868 PMID:27578136 PMID:28492532 PMID:30522860 PMID:33258201 More...
NCBI chr 3:137,795,616...137,849,179
Ensembl chr 3:137,795,615...137,850,729
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Nampt
nicotinamide phosphoribosyltransferase
ISO
DNA:repeats:intron protein:increased expression:plasma
RGD
PMID:15922301 PMID:17556870
RGD:1642345 , RGD:1642337
NCBI chr12:32,870,334...32,903,368
Ensembl chr12:32,869,544...32,903,348
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Neil1
nei endonuclease VIII-like 1 (E. coli)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16446448 PMID:17389588
NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589
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Ngf
nerve growth factor
ISO
RGD
PMID:11935372
RGD:1580935
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
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Nnmt
nicotinamide N-methyltransferase
ISO
mRNA,protein:increased expression,increased activity:adipose tissue (rat)
RGD
PMID:25719492
RGD:401793724
NCBI chr 9:48,448,905...48,518,958
Ensembl chr 9:48,503,177...48,516,453
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Nos3
nitric oxide synthase 3, endothelial cell
treatment
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
CTD ClinVar RGD
PMID:12947532 PMID:15269839 PMID:20876122 PMID:28361419 PMID:28967023 PMID:29127233 More...
RGD:13461762 , RGD:13450928
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Nox1
NADPH oxidase 1
ISO
protein:increased expression, increased activity:peripheral blood mononuclear cell (human)
RGD
PMID:16380495
RGD:1580973
NCBI chr X:132,987,170...133,038,455
Ensembl chr X:132,987,170...133,122,705
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr 2:91,014,406...91,033,189
Ensembl chr 2:91,014,406...91,033,179
G
Nr1i2
nuclear receptor subfamily 1, group I, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20869355
NCBI chr16:38,068,711...38,115,211
Ensembl chr16:38,068,685...38,115,186
G
Nr1i3
nuclear receptor subfamily 1, group I, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20869355
NCBI chr 1:171,041,503...171,046,414
Ensembl chr 1:171,041,539...171,048,270
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Pck1
phosphoenolpyruvate carboxykinase 1, cytosolic
ameliorates
ISO
RGD
PMID:27821167
RGD:401799622
NCBI chr 2:172,994,866...173,001,067
Ensembl chr 2:172,994,841...173,001,066
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Pcsk9
proprotein convertase subtilisin/kexin type 9
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 4:106,299,531...106,321,522
Ensembl chr 4:106,299,526...106,321,526
G
Pde9a
phosphodiesterase 9A
treatment
IMP
RGD
PMID:34618683
RGD:242170038
NCBI chr17:31,605,079...31,695,284
Ensembl chr17:31,605,184...31,695,284
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Pla2g4a
phospholipase A2, group IVA (cytosolic, calcium-dependent)
ISO
mRNA:decreased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr 1:149,705,369...149,837,041
Ensembl chr 1:149,705,369...149,837,041
G
Pla2g6
phospholipase A2, group VI
ISO
mRNA:decreased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr15:79,170,428...79,212,915
Ensembl chr15:79,170,428...79,212,590
G
Pla2g7
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
ISO
mRNA:increased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
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Plat
plasminogen activator, tissue
ISO
protein:increased expression:serum
RGD
PMID:18249307
RGD:2311664
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
G
Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21573798 PMID:14602783
RGD:1642618
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
G
Ppara
peroxisome proliferator activated receptor alpha
ameliorates
ISO IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:11934685 PMID:31353547
RGD:628329 , RGD:401850595
NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020
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Pparg
peroxisome proliferator activated receptor gamma
no_association ameliorates
ISO IEP
DNA:SNP: :p.P12A (human)
RGD
PMID:18959602 PMID:31353547 PMID:16186413 PMID:16183630
RGD:2301843 , RGD:401850595 , RGD:1580686 , RGD:1580683
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Ppargc1a
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
ISO
mRNA:decreased expression:gastrocnemius muscle (rat)
RGD
PMID:20383225
RGD:10059661
NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068
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Prkaa2
protein kinase, AMP-activated, alpha 2 catalytic subunit
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 4:104,886,846...104,967,095
Ensembl chr 4:104,887,071...104,967,087
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Prl
prolactin
ISO
RGD
PMID:16303834
RGD:1642558
NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:liver
RGD
PMID:17883899
RGD:1642586
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
G
Rbp4
retinol binding protein 4, plasma
disease_progression
ISO
protein:increased expression:blood serum (human) associated with obstructive sleep apnea;protein:increased expression:blood plasma (human)
RGD
PMID:19339013 PMID:19003725
RGD:329845591 , RGD:329853307
NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
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Reg1
regenerating islet-derived 1
treatment
ISO
RGD
PMID:21685239
RGD:10044029
NCBI chr 6:78,402,966...78,405,651
Ensembl chr 6:78,399,694...78,405,650
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Retn
resistin
ISO
DNA:SNP:promoter:-420G>C (rs1862513) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18328350 PMID:17598818
RGD:7207155
NCBI chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110
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Scd1
stearoyl-Coenzyme A desaturase 1
ameliorates
ISO IEP
RGD
PMID:27821167 PMID:31353547
RGD:401799622 , RGD:401850595
NCBI chr19:44,382,889...44,396,148
Ensembl chr19:44,382,894...44,396,318
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Scg3
secretogranin III
ISO
DNA:SNP: :rs3764220 (human)
RGD
PMID:21796137
RGD:329853776
NCBI chr 9:75,550,648...75,591,733
Ensembl chr 9:75,550,471...75,591,338
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Selp
selectin, platelet
ISO
RGD
PMID:19061719
RGD:2312292
NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
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Serpina12
serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
treatment
ISO
human protein in a mouse model
RGD
PMID:16030142
RGD:1547845
NCBI chr12:103,995,028...104,010,702
Ensembl chr12:103,995,028...104,010,702
G
Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
treatment
ISO
RGD
PMID:26084260
RGD:11073736
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
G
Shbg
sex hormone binding globulin
ISO
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16968811 PMID:17992261 PMID:17884445
RGD:2313785
NCBI chr11:69,501,108...69,508,852
Ensembl chr11:69,505,630...69,508,731
G
Sim1
single-minded family bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: SIM1-associated metabolic syndrome
ClinVar
NCBI chr10:50,770,794...50,865,252
Ensembl chr10:50,770,850...50,865,248
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Sirt1
sirtuin 1
treatment
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:hippocampus (rat)
CTD RGD
PMID:20068143 PMID:21514307 PMID:25356430
RGD:9585758 , RGD:10053569
NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
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Slc27a1
solute carrier family 27 (fatty acid transporter), member 1
susceptibility
IAGP
DNA:gene knockout::Slc27a1-/- mice resistant to diet-induced obesity and metabolic syndrome
RGD
PMID:16611988
RGD:1642790
NCBI chr 8:72,021,372...72,039,951
Ensembl chr 8:72,021,526...72,039,946
G
Slc2a1
solute carrier family 2 (facilitated glucose transporter), member 1
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180
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Slc2a4
solute carrier family 2 (facilitated glucose transporter), member 4
ameliorates
IEP
RGD
PMID:31353547
RGD:401850595
NCBI chr11:69,833,112...69,839,040
Ensembl chr11:69,833,365...69,839,014
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Soat2
sterol O-acyltransferase 2
susceptibility
ISO
DNA:SNPs
RGD
PMID:14557872
RGD:1581921
NCBI chr15:102,058,853...102,071,871
Ensembl chr15:102,058,961...102,071,904
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Sod2
superoxide dismutase 2, mitochondrial
treatment
IEP
RGD
PMID:28875871
RGD:26923956
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
G
Srebf1
sterol regulatory element binding transcription factor 1
disease_progression ameliorates
IEP ISO
protein:increased expression:liver (mouse) mRNA:increased expression:liver (rat)
RGD
PMID:29173234 PMID:31353547 PMID:11934685
RGD:401827867 , RGD:401850595 , RGD:628329
NCBI chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407
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Tgfb1
transforming growth factor, beta 1
ISO
mRNA:increased expression:left heart ventricle
RGD
PMID:18692559
RGD:2306739
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Thbd
thrombomodulin
ISO
associated with Diabetic Nephropathies;protein:increased expression:plasma
RGD
PMID:16567841
RGD:1601641
NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
G
Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:24441717
RGD:10450604
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
ISO
associated with obesity;protein:increased expression:plasma
RGD
PMID:17200772
RGD:1624178
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
G
Trf
transferrin
susceptibility
ISO
protein:increased expression:serum
RGD
PMID:17416791
RGD:1601514
NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
G
Trib3
tribbles pseudokinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18497449
NCBI chr 2:152,179,345...152,185,980
Ensembl chr 2:152,179,342...152,185,952
G
Ucp2
uncoupling protein 2 (mitochondrial, proton carrier)
ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:11934685
RGD:628329
NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227
G
Ucp3
uncoupling protein 3 (mitochondrial, proton carrier)
treatment
ISO
RGD
PMID:11934685
RGD:628329
NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639
G
Vcam1
vascular cell adhesion molecule 1
ISO
RGD
PMID:18718174
RGD:2313109
NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337
G
Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:plasma:
RGD
PMID:22206010
RGD:7483588
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
G
Vwf
Von Willebrand factor
ISO
protein:increased expression:plasma
RGD
PMID:16764036
RGD:1625709
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all