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: hyperinsulinism
Accession: DOID:2018
browse the term
Definition: A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS.
Synonyms: exact_synonym: Compensatory Hyperinsulinemia; Endogenous Hyperinsulinism; Exogenous Hyperinsulinism; Hyperinsulinemia
narrow_synonym: HYPERINSULINISM DUE TO HNF4A DEFICIENCY; HYPERINSULINISM, DOMINANT; HYPERINSULINISM, DOMINANT/RECESSIVE
primary_id: MESH:D006946
alt_id: RDO:0004350
xref: ICD10CM:E16.1
For additional species annotation, visit the
Alliance of Genome Resources .
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Abcc8
ATP binding cassette subfamily C member 8
susceptibility
ISO
ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive
ClinVar
PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16455067 PMID:16595597 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22385882 PMID:22704848 PMID:22992668 PMID:24442125 PMID:25115353 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29681852 , PMID:16416420 , PMID:12199344
RGD:1625279 , RGD:1598639
NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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Adcyap1
adenylate cyclase activating polypeptide 1
ISO
RGD
PMID:14742740
RGD:2325255
NCBI chr 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716
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Adipoq
adiponectin, C1Q and collagen domain containing
IEP
RGD
PMID:16414018
RGD:1599145
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Adipor1
adiponectin receptor 1
IEP
mRNA:decreased expression:skeletal muscle cell
RGD
PMID:16326833
RGD:1625765
NCBI chr13:51,240,470...51,260,233
Ensembl chr13:51,240,911...51,260,228
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Adipor2
adiponectin receptor 2
IEP
mRNA:increased expression:skeletal muscle cell
RGD
PMID:16326833
RGD:1625765
NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
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Adm
adrenomedullin
ISO
associated with Obesity;protein:increased expression:plasma
RGD
PMID:15789277
RGD:1625301
NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
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Adra1b
adrenoceptor alpha 1B
susceptibility
ISO
RGD
PMID:14581480 , PMID:14581480
RGD:1625772 , RGD:1625772
NCBI chr10:29,392,762...29,450,644
Ensembl chr10:29,392,762...29,450,644
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Adrb3
adrenoceptor beta 3
ISO
associated with Obesity;mRNA:decreased expression:epidydimis, white fat
RGD
PMID:11014217
RGD:2313165
NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
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Agt
angiotensinogen
ISO
associated with obesity;DNA:polymorphism: :p.M235T
RGD
PMID:16713443
RGD:1601142
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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Agtr1a
angiotensin II receptor, type 1a
IEP
RGD
PMID:16565309
RGD:1642975
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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Brd2
bromodomain containing 2
ISO
RGD
PMID:19883376
RGD:9586446
NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426 Ensembl chr20:3,910,555...3,917,426
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Ccl2
C-C motif chemokine ligand 2
IEP ISO
mRNA, protein:increased expression:aorta (rat) CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695 , PMID:17180354
RGD:8549642
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Cd163
CD163 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467
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Cd40
CD40 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Cd68
Cd68 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
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Cdkn1c
cyclin-dependent kinase inhibitor 1C
ISO
DNA:loss of heterozygosity:pancreatic islet
RGD
PMID:11723059
RGD:2311334
NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
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Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20836762
NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
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Ddc
dopa decarboxylase
ISO
protein:increased expression:pancreatic beta cell (human)
RGD
PMID:16403819
RGD:5129140
NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
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Fanca
FA complementation group A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22482891
NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
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Fancc
FA complementation group C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22482891
NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
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Fbn1
fibrillin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20836762
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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Foxa2
forkhead box A2
ISO
RGD
PMID:11445544
RGD:2313243
NCBI chr 3:142,383,084...142,387,493
Ensembl chr 3:142,383,278...142,387,481
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Gcg
glucagon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3019152
NCBI chr 3:48,442,635...48,451,650
Ensembl chr 3:48,442,635...48,451,650
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Gck
glucokinase
ISO
hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar
PMID:9435328
RGD:1601294
NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
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Gfpt1
glutamine fructose-6-phosphate transaminase 1
IEP
mRNA:increased expression:gastrocnemius
RGD
PMID:16555472
RGD:1624365
NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
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Gip
gastric inhibitory polypeptide
IEP
protein:decreased expression:plasma (rat)
RGD
PMID:8059006
RGD:2312550
NCBI chr10:83,835,080...83,848,399
Ensembl chr10:83,840,303...83,848,396
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Glud1
glutamate dehydrogenase 1
ISO
familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A ClinVar Annotator: match by term: Hyperinsulinism, Dominant CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:9571255 PMID:25741868 PMID:26467025 , PMID:10636977 , PMID:20670938
RGD:1601353 , RGD:6484656
NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
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Gpx1
glutathione peroxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15184668 PMID:18560803
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
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Hadh
hydroxyacyl-CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive
ClinVar
PMID:28492532
NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19171794
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar Annotator: match by term: Hyperinsulinemia ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency
ClinVar
PMID:9267996 PMID:9313765 PMID:9449683 PMID:10983627 PMID:15793260 PMID:16883527 PMID:16917892 PMID:16946562 PMID:17573900 PMID:18811724 PMID:20164212 PMID:22662265 PMID:22802087 PMID:24033266 PMID:24285859 PMID:25741868 PMID:25819479 PMID:26467025 PMID:27245055 PMID:28458902 PMID:28492532 PMID:28693455 PMID:29998026 , PMID:17407387
RGD:12904698
NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
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Hp
haptoglobin
ISO
protein:increased expression:serum
RGD
PMID:17598972
RGD:1626335
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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Il6
interleukin 6
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)
RGD
PMID:19375766
RGD:2307250
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2991050 PMID:3511099 PMID:4019786 PMID:6382002 , PMID:9667398
RGD:1625121
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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Insr
insulin receptor
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutation: :p.P1195L (mouse)
CTD
PMID:10949030 PMID:18411068 , PMID:10949030 , PMID:21549686
RGD:1302523 , RGD:10403034
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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Ireb2
iron responsive element binding protein 2
IEP
protein:increased expression:liver (rat)
RGD
PMID:25385842
RGD:12903966
NCBI chr 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
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Irs1
insulin receptor substrate 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19734900
NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
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Itgam
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
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Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive protein:substitution: :p.H259R (human)
ClinVar
PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16455067 PMID:16595597 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22385882 PMID:22704848 PMID:22992668 PMID:24442125 PMID:25115353 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29681852 , PMID:16416420 , PMID:15998776
RGD:1625279 , RGD:1625277
NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
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Lep
leptin
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9826672 , PMID:22948215
RGD:12904911
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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Lepem1Sage
leptin; zinc finger nuclease induced mutant1, Sage
IMP
RGD
PMID:22948215
RGD:12904911
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Lepr
leptin receptor
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD
PMID:3519326 PMID:15093691 PMID:22949526 PMID:24384915 PMID:25222487 PMID:29988851 PMID:30689673 , PMID:26537785
RGD:12911216
NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
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Leprem4Lizh
leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh
IMP
RGD
PMID:26537785
RGD:12911216
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Lipc
lipase C, hepatic type
IDA ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)
RGD
PMID:7047662 , PMID:1592086 , PMID:11095452
RGD:2308800 , RGD:2308794 , RGD:2308844
NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
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LOC100909544
bromodomain-containing protein 2-like
ISO
RGD
PMID:19883376
RGD:9586446
NCBI chr20:3,910,555...3,918,348
Ensembl chr20:3,910,555...3,917,426
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Lta
lymphotoxin alpha
ISO
associated with Coronary Arteriosclerosis
RGD
PMID:9726033
RGD:1625034
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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Mc4r
melanocortin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23251400
NCBI chr18:62,612,838...62,614,725
Ensembl chr18:62,612,838...62,614,725
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Mgrn1
mahogunin ring finger 1
ISO
RGD
PMID:16638826
RGD:1641947
NCBI chr10:10,832,573...10,881,999
Ensembl chr10:10,833,519...10,881,977
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Mrc1
mannose receptor, C type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr17:81,352,700...81,433,743
Ensembl chr17:81,352,700...81,433,743
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Mttp
microsomal triglyceride transfer protein
susceptibility
ISO
DNA:polymorphism:promoter:-493G>T
RGD
PMID:11849654
RGD:1625490
NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
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Neil1
nei-like DNA glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16446448
NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19008412
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Npy5r
neuropeptide Y receptor Y5
IDA
RGD
PMID:15187000
RGD:1625494
NCBI chr16:24,796,685...24,805,730
Ensembl chr16:24,797,124...24,805,079
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Parl
presenilin associated, rhomboid-like
no_association
ISO
DNA:missense mutation:cds:p.L262V (human)
RGD
PMID:15729572 , PMID:19185381
RGD:12880443 , RGD:12880445
NCBI chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462
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Pfkfb1
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
IEP
associated with Obesity;protein:increased expression:liver
RGD
PMID:9705027
RGD:2302681
NCBI chr X:23,092,143...23,145,923
Ensembl chr X:23,092,159...23,144,324
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Pklr
pyruvate kinase L/R
ISO
mRNA:increased expression:liver
RGD
PMID:14766002
RGD:1625581
NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
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Prkcd
protein kinase C, delta
IEP
RGD
PMID:8826977
RGD:1625605
NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
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Prkcq
protein kinase C, theta
IEP
associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus
RGD
PMID:8826977
RGD:1625605
NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286
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Pten
phosphatase and tensin homolog
IEP
protein:decreased expression:ovary
RGD
PMID:18421022
RGD:2292519
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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Ptpn1
protein tyrosine phosphatase, non-receptor type 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28899902
NCBI chr 3:164,665,462...164,711,936
Ensembl chr 3:164,665,532...164,711,848
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Ptprf
protein tyrosine phosphatase, receptor type, F
ISO
mouse model overexpressing human transgene
RGD
PMID:11309481
RGD:1642735
NCBI chr 5:137,036,936...137,112,930
Ensembl chr 5:137,036,935...137,112,927
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Rps6kb1
ribosomal protein S6 kinase B1
IEP
protein:increased phosphorylation:liver, skeletal muscle
RGD
PMID:15692808
RGD:1643026
NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364
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Scd
stearoyl-CoA desaturase
IEP
associated with Obesity
RGD
PMID:16284748
RGD:1580005
NCBI chr 1:264,159,966...264,173,061
Ensembl chr 1:264,160,129...264,172,729
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Shld2
shieldin complex subunit 2
ISO
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar
NCBI chr16:10,570,307...10,661,528
Ensembl chr16:10,570,314...10,661,528
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Slc16a1
solute carrier family 16 member 1
ISO
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar
PMID:25741868
NCBI chr 2:207,108,552...207,129,352
Ensembl chr 2:207,108,552...207,128,554
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Slc27a1
solute carrier family 27 member 1
IEP
protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle
RGD
PMID:15281014
RGD:1642794
NCBI chr16:19,997,823...20,016,193
Ensembl chr16:19,999,112...20,016,190
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tsc22d3
TSC22 domain family, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22556341
NCBI chr X:111,884,285...111,944,693
Ensembl chr X:111,884,295...111,887,906
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Txnip
thioredoxin interacting protein
susceptibility
ISO
DNA:nonsense mutation
RGD
PMID:15047687
RGD:1642753
NCBI chr 2:198,683,168...198,686,971
Ensembl chr 2:198,683,159...198,686,974
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Ctf1
cardiotrophin 1
ISS
MouseDO
NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
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Gucy2c
guanylate cyclase 2C
ISS
MouseDO
NCBI chr 4:170,659,993...170,740,274
Ensembl chr 4:170,659,998...170,740,274
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Lep
leptin
ISS
MouseDO
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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Neil1
nei-like DNA glycosylase 1
ISS
MouseDO
NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309680
NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
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Pparg
peroxisome proliferator-activated receptor gamma
ISS
MouseDO
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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Ppargc1a
PPARG coactivator 1 alpha
IEP
mRNA:increased expression:gastrocnemius muscle (rat)
RGD
PMID:23320128
RGD:7241841
NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
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Prkci
protein kinase C, iota
ISS
MouseDO
NCBI chr 2:115,941,998...116,002,550
Ensembl chr 2:115,941,993...116,002,561
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Sirt3
sirtuin 3
ISS
MouseDO
NCBI chr 1:213,613,502...213,636,061
Ensembl chr 1:213,613,513...213,635,546
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Atp2a2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
IDA
protein:increased oxidation:cardiac muscle cell
RGD
PMID:23997093
RGD:13782087
NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
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Bax
BCL2 associated X, apoptosis regulator
treatment
IEP
RGD
PMID:27131981
RGD:13792503
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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Bcl2
BCL2, apoptosis regulator
treatment
IEP
RGD
PMID:27131981
RGD:13792503
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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Fadd
Fas associated via death domain
treatment
IEP
RGD
PMID:27131981
RGD:13792503
NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
G
Fas
Fas cell surface death receptor
IEP
RGD
PMID:30172001
RGD:13792561
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
G
Lep
leptin
ISS
OMIM:605552
MouseDO
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
G
Lpl
lipoprotein lipase
treatment
IDA
RGD
PMID:26996629
RGD:13794382
NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
G
Mttp
microsomal triglyceride transfer protein
ISO
ClinVar Annotator: match by term: Metabolic syndrome, protection against
ClinVar OMIM
PMID:16721486
NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
G
Tlr2
toll-like receptor 2
susceptibility
ISO
RGD
PMID:19841034
RGD:15090861
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
G
Tp53inp1
tumor protein p53 inducible nuclear protein 1
ISS
OMIM:605552
MouseDO
NCBI chr 5:24,402,895...24,419,651
Ensembl chr 5:24,410,863...24,416,888
G
Ahdc1
AT hook, DNA binding motif, containing 1
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3
ClinVar
PMID:25741868
NCBI chr 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165
G
Dyrk1b
dual specificity tyrosine phosphorylation regulated kinase 1B
ISO
ClinVar Annotator: match by OMIM:615812
OMIM ClinVar
PMID:24827035
NCBI chr 1:85,112,819...85,120,840
Ensembl chr 1:85,112,247...85,120,839
G
Cela2a
chymotrypsin like elastase 2A
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4
OMIM ClinVar
PMID:31358993
NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
G
Lipe
lipase E, hormone sensitive type
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4
ClinVar
PMID:25741868
NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
G
Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Familial hyperinsulinism ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy DNA:mutations:exon:multiple DNA:missense mutations, nonsense mutations, splice-site mutations:CDS:multiple DNA:missense mutations:exon:p.G1485E (c.4454G>A), p.D1506E (c.4518C>A), p.M1544K (c.4541T>A) (human) DNA:mutations:exon, intron:multiple DNA:deletion: :p.S1387del (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:256450 ClinVar Annotator: match by term: familial hyperinsulinism ClinVar Annotator: match by term: Congenital Hyperinsulinism
ClinVar CTD
PMID:7716548 PMID:8923011 PMID:9041101 PMID:9618169 PMID:9648840 PMID:9867219 PMID:10334322 PMID:10338089 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685980 PMID:10720932 PMID:10923633 PMID:11226335 PMID:11272143 PMID:11318841 PMID:11872696 PMID:11999683 PMID:12196481 PMID:12475776 PMID:12784138 PMID:12941782 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15356046 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16186397 PMID:16357843 PMID:16416420 PMID:16429405 PMID:16455067 PMID:16595597 PMID:16860127 PMID:16969006 PMID:17236890 PMID:17257281 PMID:17378627 PMID:17384337 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17575084 PMID:17668386 PMID:17823772 PMID:18025408 PMID:18339976 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18758683 PMID:18988933 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20424228 PMID:20427569 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20943781 PMID:21378087 PMID:21716120 PMID:21851374 PMID:21992908 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22385882 PMID:22704848 PMID:22802590 PMID:22855730 PMID:22992668 PMID:23067144 PMID:23261959 PMID:23275527 PMID:23345197 PMID:23506826 PMID:23652837 PMID:23771172 PMID:24145932 PMID:24401662 PMID:24442125 PMID:24616771 PMID:24645945 PMID:24686051 PMID:24937539 PMID:25115353 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25741868 PMID:25781672 PMID:25972930 PMID:26180531 PMID:26431509 PMID:26467025 PMID:27175728 PMID:27188453 PMID:27573238 PMID:27682711 PMID:27754802 PMID:27810688 PMID:28442472 PMID:28492532 PMID:29681852 PMID:30352420 PMID:30462810 , PMID:7716548 , PMID:23506826 , PMID:23652837 , PMID:20573158 , PMID:16429405 , PMID:24401662 , PMID:21422196 , PMID:18596924
RGD:704365 , RGD:12790723 , RGD:11069847 , RGD:12790596 , RGD:11067821 , RGD:12790587 , RGD:11070657 , RGD:12743628
NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
G
Gck
glucokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15277402
NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
G
Glud1
glutamate dehydrogenase 1
ISO
RGD
PMID:9571255
RGD:1302513
NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
G
Hadh
hydroxyacyl-CoA dehydrogenase
ISO
DNA:deletion:cds (human)
RGD
PMID:14693719
RGD:2306664
NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
G
Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
DNA:mutations: : ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar
PMID:10227563 PMID:10768098 PMID:10983627 PMID:15281001 PMID:15793260 PMID:15928245 PMID:16883527 PMID:16946562 PMID:18414213 PMID:21105491 PMID:22140441 PMID:22232426 PMID:23247789 PMID:24033266 PMID:24097065 PMID:25041077 PMID:25631608 PMID:25741868 PMID:26059258 PMID:26467025 PMID:26512799 PMID:26740944 PMID:27080136 PMID:27420379 PMID:28492532 , PMID:20164212
RGD:12904701
NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL DNA:SNPs:exon:c.151G>T, c.1017G>T (human) DNA:missense mutations, frameshift mutations:CDS:multiple DNA:deletion, frameshift mutation, missense mutations:exon:multiple DNA:deletion, insertion:exon DNA:missense mutation:exon:p.R34H (c.101G>A) (human)
CTD ClinVar
PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16455067 PMID:16595597 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22385882 PMID:22704848 PMID:22992668 PMID:24442125 PMID:25115353 PMID:25741868 PMID:26467025 PMID:29681852 , PMID:23506826 , PMID:23652837 , PMID:24401662 , PMID:17316607 , PMID:24421282
RGD:12790723 , RGD:11069847 , RGD:12790587 , RGD:12743643 , RGD:12743624
NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
G
Kcnt2
potassium sodium-activated channel subfamily T member 2
ISO
ClinVar Annotator: match by term: KCNT2-related condition
ClinVar
PMID:29069600
NCBI chr13:57,130,855...57,520,263
Ensembl chr13:57,131,395...57,521,836
G
Tbc1d4
TBC1 domain family, member 4
ISO
RGD
PMID:19470471
RGD:7248544
NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
G
Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
OMIM ClinVar
PMID:1021286 PMID:7716548 PMID:8650576 PMID:8751851 PMID:8923011 PMID:9041101 PMID:9075812 PMID:9382893 PMID:9519757 PMID:9568693 PMID:9618169 PMID:9642650 PMID:9648840 PMID:9769320 PMID:10202168 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10400694 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685980 PMID:10720932 PMID:10923633 PMID:10993895 PMID:11018078 PMID:11226335 PMID:11272143 PMID:11395395 PMID:11457841 PMID:11697420 PMID:11867634 PMID:11999683 PMID:12169627 PMID:12199344 PMID:12364426 PMID:12559865 PMID:12627323 PMID:12784138 PMID:12941782 PMID:14593442 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15561897 PMID:15562009 PMID:15579781 PMID:15807877 PMID:15842514 PMID:16186397 PMID:16357843 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16860127 PMID:16969006 PMID:17236890 PMID:17378627 PMID:17384337 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17668386 PMID:17919176 PMID:17990484 PMID:18025408 PMID:18073294 PMID:18339976 PMID:18346985 PMID:18390792 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18596924 PMID:18599530 PMID:18758683 PMID:18767144 PMID:18988933 PMID:19151370 PMID:19475716 PMID:20042013 PMID:20427569 PMID:20432820 PMID:20573158 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20922570 PMID:20943779 PMID:20943781 PMID:21109997 PMID:21214702 PMID:21321069 PMID:21378087 PMID:21411514 PMID:21422196 PMID:21544516 PMID:21617188 PMID:21674179 PMID:21716120 PMID:21851374 PMID:21968111 PMID:21978130 PMID:21992908 PMID:22210575 PMID:22308858 PMID:22562119 PMID:22662265 PMID:22704848 PMID:22796691 PMID:22802590 PMID:22855730 PMID:22876564 PMID:22902787 PMID:23067144 PMID:23226049 PMID:23261959 PMID:23266803 PMID:23273570 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23506826 PMID:23652837 PMID:23744072 PMID:23771172 PMID:23771920 PMID:23798684 PMID:23903354 PMID:24033266 PMID:24044690 PMID:24072082 PMID:24080777 PMID:24145932 PMID:24332968 PMID:24401662 PMID:24411943 PMID:24434300 PMID:24616771 PMID:24645945 PMID:24686051 PMID:24750227 PMID:24768178 PMID:24814349 PMID:24937539 PMID:24959012 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25518065 PMID:25525159 PMID:25555642 PMID:25584046 PMID:25639667 PMID:25720052 PMID:25741868 PMID:25765446 PMID:25781672 PMID:25931474 PMID:25955821 PMID:25972930 PMID:26180531 PMID:26208381 PMID:26246406 PMID:26268944 PMID:26316440 PMID:26379717 PMID:26431509 PMID:26467025 PMID:26545876 PMID:26594346 PMID:26740944 PMID:26758964 PMID:26839896 PMID:27175728 PMID:27188453 PMID:27313609 PMID:27573238 PMID:27682711 PMID:27691052 PMID:27754802 PMID:27810688 PMID:27889714 PMID:27908292 PMID:28018462 PMID:28095440 PMID:28270372 PMID:28346775 PMID:28442472 PMID:28492532 PMID:28529015 PMID:28701683 PMID:29207974 PMID:29216354 PMID:29644095 PMID:30186238 PMID:30297969 PMID:30352420 PMID:30386300 PMID:30447144 PMID:30462810 PMID:31604004
NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
G
Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 2
ClinVar
PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16455067 PMID:16595597 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22385882 PMID:22704848 PMID:22992668 PMID:24442125 PMID:25115353 PMID:25741868 PMID:26467025 PMID:29681852
NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 2
OMIM ClinVar
PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16455067 PMID:16595597 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22385882 PMID:22704848 PMID:22992668 PMID:24442125 PMID:25115353 PMID:25741868 PMID:26467025 PMID:29681852
NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
G
Gck
glucokinase
ISO
ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3 ClinVar Annotator: match by OMIM:602485
OMIM ClinVar
PMID:7555485 PMID:8068341 PMID:8349034 PMID:8433729 PMID:8454109 PMID:9435328 PMID:9469993 PMID:10447526 PMID:11315850 PMID:11315851 PMID:11916951 PMID:11942313 PMID:12442280 PMID:12627330 PMID:14517946 PMID:14517956 PMID:15277402 PMID:15305805 PMID:15841481 PMID:15918042 PMID:15928245 PMID:16963153 PMID:16965331 PMID:17573900 PMID:18271687 PMID:19790256 PMID:20132997 PMID:21604084 PMID:22493702 PMID:22611063 PMID:24097065 PMID:24518839 PMID:24728127 PMID:25015100 PMID:25741868 PMID:25850297 PMID:26467025 PMID:28492532
NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
G
Hadh
hydroxyacyl-CoA dehydrogenase
ISO
ClinVar Annotator: match by OMIM:609975 ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4
ClinVar OMIM
PMID:904979 PMID:11489939 PMID:14693719 PMID:19318379 PMID:21252247 PMID:22662265 PMID:23273570 PMID:25741868 PMID:27104957 PMID:28492532
NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
G
Insr
insulin receptor
ISO
ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency
ClinVar
PMID:8288049 PMID:15161766 PMID:25741868 PMID:27896077
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
G
Insr
insulin receptor
ISO
ClinVar Annotator: match by OMIM:609968
OMIM ClinVar
PMID:8288049 PMID:15161766 PMID:25741868 PMID:27896077
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
G
Glud1
glutamate dehydrogenase 1
ISO
ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar Annotator: match by OMIM:606762
OMIM ClinVar
PMID:9469993 PMID:9571255 PMID:9843361 PMID:10636977 PMID:10871207 PMID:11214910 PMID:18414213 PMID:18928469 PMID:19046187 PMID:23869231 PMID:25008049 PMID:25741868 PMID:26467025 PMID:26759084 PMID:27188453 PMID:28165182 PMID:28492532 PMID:30306091 PMID:30352420 PMID:30425915
NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
G
Shld2
shieldin complex subunit 2
ISO
ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:10,570,307...10,661,528
Ensembl chr16:10,570,314...10,661,528
G
Slc16a1
solute carrier family 16 member 1
ISO
ClinVar Annotator: match by term: Exercise-induced hyperinsulinism ClinVar Annotator: match by term: Exercise-induced hyperinsulinemic hypoglycemia ClinVar Annotator: match by OMIM:610021
OMIM ClinVar
PMID:11207177 PMID:17701893 PMID:18414213 PMID:19881260 PMID:25371203 PMID:25741868 PMID:25741869 PMID:26595136 PMID:28492532
NCBI chr 2:207,108,552...207,129,352
Ensembl chr 2:207,108,552...207,128,554
G
Abcc8
ATP binding cassette subfamily C member 8
ISS ISO
OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 ClinVar Annotator: match by term: Islet cell hyperplasia ClinVar Annotator: match by term: Nesidioblastosis
MouseDO ClinVar
PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16455067 PMID:16595597 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22385882 PMID:22704848 PMID:22992668 PMID:24442125 PMID:25115353 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29681852
NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
G
Gck
glucokinase
ISS
OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021
MouseDO
NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Islet cell hyperplasia ClinVar Annotator: match by term: Nesidioblastosis
ClinVar
PMID:7847376 PMID:8897013 PMID:8923010 PMID:9356020 PMID:9867219 PMID:10338089 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 PMID:14551916 PMID:14715863 PMID:14871556 PMID:15115830 PMID:15504982 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15855351 PMID:15998776 PMID:16416420 PMID:16455067 PMID:16595597 PMID:16670688 PMID:16982483 PMID:17257281 PMID:17316607 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17673911 PMID:17823772 PMID:18250167 PMID:18290324 PMID:18414213 PMID:18596924 PMID:18758683 PMID:18767144 PMID:19214942 PMID:19233137 PMID:19254908 PMID:19357197 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20049716 PMID:20424228 PMID:20589481 PMID:20685672 PMID:21115269 PMID:21119644 PMID:21765448 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22311976 PMID:22385882 PMID:22471336 PMID:22512215 PMID:22704848 PMID:22958899 PMID:22992668 PMID:23275527 PMID:23345197 PMID:24434300 PMID:24442125 PMID:24698822 PMID:25115353 PMID:25637631 PMID:25639667 PMID:25741868 PMID:25871929 PMID:25972930 PMID:26467025 PMID:26545876 PMID:26740944 PMID:27065949 PMID:28492532 PMID:29681852
NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
G
Acaca
acetyl-CoA carboxylase alpha
IDA
RGD
PMID:16485039
RGD:1625727
NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
G
Acacb
acetyl-CoA carboxylase beta
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22658938 , PMID:16485039
RGD:1625727
NCBI chr12:48,127,149...48,238,969
Ensembl chr12:48,127,149...48,238,887
G
Ace
angiotensin I converting enzyme
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
G
Acp1
acid phosphatase 1
ISO
associated with Obesity
RGD
PMID:17353188
RGD:2313180
NCBI chr 6:49,836,064...49,851,714
Ensembl chr 6:49,836,075...49,851,714
G
Acsl1
acyl-CoA synthetase long-chain family member 1
ISO
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:16788709
RGD:1625735
NCBI chr16:48,937,456...49,003,898
Ensembl chr16:48,937,456...49,003,246
G
Adipoq
adiponectin, C1Q and collagen domain containing
treatment
IEP ISO
CTD Direct Evidence: therapeutic associated with Hypertension
CTD
PMID:18931039 PMID:21484566 , PMID:16041833 , PMID:23089228 , PMID:21872431
RGD:1599150 , RGD:8695951 , RGD:8695928
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
G
Adipor1
adiponectin receptor 1
resistance
ISO
associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C
RGD
PMID:17285539
RGD:1625762
NCBI chr13:51,240,470...51,260,233
Ensembl chr13:51,240,911...51,260,228
G
Adipor2
adiponectin receptor 2
treatment
IEP
RGD
PMID:30225267 , PMID:24797033
RGD:21406435 , RGD:25824940
NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
G
Adora1
adenosine A1 receptor
treatment
ISO IDA
associated with Obesity
RGD
PMID:11703426 , PMID:15220221
RGD:2313807 , RGD:1625243
NCBI chr13:51,042,111...51,076,913
Ensembl chr13:51,042,248...51,076,852
G
Adra1b
adrenoceptor alpha 1B
susceptibility
ISO
RGD
PMID:14581480 , PMID:14581480
RGD:1625772 , RGD:1625772
NCBI chr10:29,392,762...29,450,644
Ensembl chr10:29,392,762...29,450,644
G
Adrb2
adrenoceptor beta 2
ISO IDA
DNA:polymorphism: :p.R16G CTD Direct Evidence: marker/mechanism
CTD
PMID:19034036 , PMID:15699455 , PMID:11510954
RGD:1601125 , RGD:1598757
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
G
Adrb3
adrenoceptor 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:10582543 , PMID:17299491
RGD:1559326 , RGD:5684421 , RGD:2313158
NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
G
Agtr2
angiotensin II receptor, type 2
IEP
protein:increased expression:dorsal root ganglion, neuron
RGD
PMID:22357959
RGD:6903873
NCBI chr X:119,389,480...119,393,845
Ensembl chr X:119,390,013...119,393,842
G
Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25734695
NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
G
Ahsg
alpha-2-HS-glycoprotein
susceptibility
ISO
protein:increased expression:plasma
RGD
PMID:17011519 , PMID:17011519 , PMID:16567827
RGD:1625793 , RGD:1625793 , RGD:1625794
NCBI chr11:81,711,269...81,717,594
G
Akt2
AKT serine/threonine kinase 2
no_association
ISO
DNA:SNPs
RGD
PMID:17327441
RGD:1601155
NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
G
Aldh2
aldehyde dehydrogenase 2 family member
treatment
IEP
protein:altered expression, altered activity:liver (rat)
RGD
PMID:28688179
RGD:14981582
NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
G
Alox15
arachidonate 15-lipoxygenase
ISO
RGD
PMID:19787041
RGD:5509625
NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
G
Ankrd26
ankyrin repeat domain 26
ISO
RGD
PMID:18162531
RGD:9681744
NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
G
Apln
apelin
IEP
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:17594060
RGD:1626170
NCBI chr X:134,856,719...134,866,210
Ensembl chr X:134,856,726...134,866,210
G
Apoa2
apolipoprotein A2
ISO
RGD
PMID:11246886
RGD:2313957
NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
G
Apoc1
apolipoprotein C1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:11723061
RGD:2313951
NCBI chr 1:80,606,638...80,609,921
Ensembl chr 1:80,606,638...80,609,921
G
Apoc3
apolipoprotein C3
susceptibility treatment
ISO IEP
RGD
PMID:15734841 , PMID:15007394
RGD:1601226 , RGD:1580750
NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
G
Ar
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG
CTD
PMID:21444647 , PMID:17332526 , PMID:16793958
RGD:1601244 , RGD:2306773
NCBI chr X:67,656,253...67,828,998
Ensembl chr X:67,656,253...67,829,026
G
Arg1
arginase 1
IEP
protein:decreased activity:liver (rat)
RGD
PMID:20593143
RGD:4142796
NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
G
Atm
ATM serine/threonine kinase
IEP
protein:decreased expression:muscle:
RGD
PMID:18534819
RGD:8693659
NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
G
Atp1a2
ATPase Na+/K+ transporting subunit alpha 2
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:14576983
RGD:1601252
NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
G
Bad
BCL2-associated agonist of cell death
IDA
protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart
RGD
PMID:21385329
RGD:10053645
NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
G
Bche
butyrylcholinesterase
ISO
RGD
PMID:17917325
RGD:2306776
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
G
Bdkrb1
bradykinin receptor B1
IMP IEP
RGD
PMID:17618300 , PMID:17988733
RGD:5129217 , RGD:5129214
NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
G
Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
IMP
RGD
PMID:25934999
RGD:11085488
NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
G
Bscl2m1Kyo
BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo
IMP
RGD
PMID:25934999
RGD:11085488
G
C1r
complement C1r
ISO
protein:increased expression:adipocyte
RGD
PMID:17244723
RGD:1600551
NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
G
C3
complement C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18615583
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
G
Capn10
calpain 10
ISO
DNA:SNP:intron:rs3792267 (human)
RGD
PMID:11018080
RGD:7247736
NCBI chr 9:100,104,000...100,112,833
Ensembl chr 9:100,104,000...100,112,832
G
Casp1
caspase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22325453
NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
G
Casp3
caspase 3
treatment
IEP
RGD
PMID:29748970
RGD:13782289
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
G
Casp8
caspase 8
IEP
RGD
PMID:29748970
RGD:13782289
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
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Cat
catalase
ISO
associated with Obesity
RGD
PMID:19188683
RGD:5130761
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
G
Cblb
Cbl proto-oncogene B
ISO
RGD
PMID:17601987
RGD:2314038
NCBI chr11:51,037,383...51,202,761
Ensembl chr11:51,037,393...51,202,820
G
Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695 , PMID:18762729 , PMID:22983634
RGD:2306985 , RGD:8548844
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Cd163
CD163 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467
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Cd36
CD36 molecule
ISO IMP
associated with Diabetes Mellitus, Type 2 CTD Direct Evidence: marker/mechanism
CTD
PMID:14640889 , PMID:15231693 , PMID:25477422 , PMID:12923231 , PMID:11175782
RGD:2307217 , RGD:11041132 , RGD:11040926 , RGD:68930
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
G
Cd40
CD40 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
G
Cd68
Cd68 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
G
Cnr1
cannabinoid receptor 1
IMP
associated with Obesity
RGD
PMID:19553924
RGD:2314662
NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
G
Cntf
ciliary neurotrophic factor
TAS
possible therapeutic agent
RGD
PMID:16675997
RGD:1626122
NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
G
Coq2
coenzyme Q2, polyprenyltransferase
IEP
associated with obesity
RGD
PMID:26296322
RGD:10755343
NCBI chr14:10,581,102...10,601,093
Ensembl chr14:10,581,136...10,600,566
G
Cpb2
carboxypeptidase B2
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma
RGD
PMID:11836301
RGD:2313645
NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
G
Cpe
carboxypeptidase E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15358678
NCBI chr16:26,906,716...27,014,811
Ensembl chr16:26,906,716...27,014,813
G
Cst3
cystatin C
ISO
associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human)
RGD
PMID:19765773
RGD:2314305
NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
G
Ctf1
cardiotrophin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21803294
NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
G
Dio2
iodothyronine deiodinase 2
ISO
DNA:SNP: :rs225014, p.T92A (human)
RGD
PMID:11872697
RGD:2313698
NCBI chr 6:114,475,156...114,489,443
Ensembl chr 6:114,476,142...114,476,723
G
Drd1
dopamine receptor D1
IEP
associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule
RGD
PMID:15798088
RGD:2302119
NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
G
Ech1
enoyl-CoA hydratase 1
treatment
ISO
RGD
PMID:31961704
RGD:21408561
NCBI chr 1:87,009,798...87,015,996
Ensembl chr 1:87,009,730...87,016,005
G
Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22238402
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
G
Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
DNA:polymorphism:K121Q ClinVar Annotator: match by term: Insulin resistance, susceptibility to
ClinVar
PMID:10480624 PMID:11739459 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:16025115 PMID:16607460 PMID:16968801 , PMID:10480624
RGD:1601043
NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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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 chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
G
Fabp2
fatty acid binding protein 2
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
RGD
PMID:7883976 , PMID:17211557 , PMID:14981227 , PMID:16311100
RGD:1300314 , RGD:1626407 , RGD:1626400 , RGD:1578456
NCBI chr 2:227,080,912...227,083,654
Ensembl chr 2:227,080,924...227,083,501
G
Fabp3
fatty acid binding protein 3
severity
ISO
RGD
PMID:16249436
RGD:1578459
NCBI chr 5:148,528,854...148,535,597
Ensembl chr 5:148,528,725...148,535,565
G
Fabp4
fatty acid binding protein 4
IEP
RGD
PMID:17391165
RGD:1625407
NCBI chr 2:93,792,666...93,797,267
Ensembl chr 2:93,792,601...93,797,305
G
Fanca
FA complementation group A
ISO
RGD
PMID:22482891
RGD:11046266
NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
G
Fancc
FA complementation group C
ISO
RGD
PMID:22482891
RGD:11046266
NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
G
Fas
Fas cell surface death receptor
treatment
IEP
associated with hypothalamic disease
RGD
PMID:29522769
RGD:13792596
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
G
Fgf19
fibroblast growth factor 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28673684
NCBI chr 1:218,058,405...218,061,693
Ensembl chr 1:218,058,405...218,061,693
G
Fis1
fission, mitochondrial 1
IEP
protein:increased expression:liver (rat)
RGD
PMID:24663492
RGD:12453042
NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
G
Foxc2
forkhead box C2
ISO
DNA:polymorphism:5'ut:-512C>T
RGD
PMID:12453913
RGD:1601219
NCBI chr19:53,044,379...53,047,081
Ensembl chr19:53,044,379...53,047,081
G
Foxo1
forkhead box O1
IEP
mRNA:increased expression:adipose tissue:
RGD
PMID:16041833
RGD:1599150
NCBI chr 2:141,451,234...141,527,016
Ensembl chr 2:141,451,234...141,527,016
G
Fxn
frataxin
ISO
DNA:repeats:intron:GAA (human)
RGD
PMID:10969848
RGD:2307049
NCBI chr 1:242,123,975...242,152,834
Ensembl chr 1:242,123,975...242,152,834
G
G6pd
glucose-6-phosphate dehydrogenase
IEP
associated with Obesity;protein:increased expression:pancreas
RGD
PMID:23015612
RGD:10449129
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
G
Gck
glucokinase
IEP
protein:increased expression:pancreatic islet
RGD
PMID:19039094
RGD:7488970
NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
G
Gfpt1
glutamine fructose-6-phosphate transaminase 1
ISO
RGD
PMID:11118009
RGD:1625423
NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
G
Gh1
growth hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21559284
NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
G
Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17062894
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
G
Gnb3
G protein subunit beta 3
ISO
DNA:polymorphism: :825C>T (human)
RGD
PMID:12624279
RGD:1580411
NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
G
Gpx3
glutathione peroxidase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270708
NCBI chr10:40,247,436...40,255,423
Ensembl chr10:40,247,436...40,255,422
G
Grk2
G protein-coupled receptor kinase 2
ISO
RGD
PMID:15994203
RGD:1625791
NCBI chr 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
G
Gsta4
glutathione S-transferase alpha 4
ISO
mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human)
RGD
PMID:20150287
RGD:5687771
NCBI chr 8:85,497,557...85,514,732
Ensembl chr 8:85,497,557...85,518,879
G
Gys1
glycogen synthase 1
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human)
RGD
PMID:9267990
RGD:2313176
NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092
G
Hamp
hepcidin antimicrobial peptide
IEP
mRNA:decreased expression:liver
RGD
PMID:17350134
RGD:1601515
NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
G
Hmga1
high mobility group AT-hook 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23512162
NCBI chr20:7,132,501...7,140,155
Ensembl chr20:7,136,007...7,138,980
G
Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:18375438 PMID:19171794 , PMID:12941774
RGD:1601621
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
G
Hnf1a
HNF1 homeobox A
ISO
mRNA:decreased expression:adipocyte ClinVar Annotator: match by term: Serum hdl cholesterol level, modifier of
ClinVar
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:24728327 PMID:25741868 PMID:26467025 , PMID:15094374
RGD:1601482
NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
G
Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21786805
NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
G
Hspd1
heat shock protein family D (Hsp60) member 1
IEP
RGD
PMID:18948349
RGD:10402862
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
G
Htr2a
5-hydroxytryptamine receptor 2A
ISO
associated with Peripheral Vascular Diseases
RGD
PMID:17062970
RGD:1624367
NCBI chr15:56,666,152...56,732,469
Ensembl chr15:56,666,012...56,735,382
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 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
G
Igfals
insulin-like growth factor binding protein, acid labile subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17726072
NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
G
Igfbp2
insulin-like growth factor binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22537059 , PMID:17259371
RGD:1626479
NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
G
Igfbp3
insulin-like growth factor binding protein 3
ISO
RGD
PMID:17237715
RGD:2313762
NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
G
Igfbp6
insulin-like growth factor binding protein 6
ISO
human transgene overexpressed in mouse brain
RGD
PMID:15889232
RGD:2301717
NCBI chr 7:143,749,385...143,754,018
Ensembl chr 7:143,749,221...143,754,054
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Igfbp7
insulin-like growth factor binding protein 7
ISO
protein:increased expression:serum
RGD
PMID:16873698
RGD:1626516
NCBI chr14:33,010,300...33,070,193
Ensembl chr14:33,010,300...33,070,190
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Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29036520 , PMID:19073766
RGD:7495768
NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
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Il18
interleukin 18
treatment
ISO
associated with Graves Disease
RGD
PMID:23257837 , PMID:16732281
RGD:8655938 , RGD:14695532
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1b
interleukin 1 beta
treatment
ISO IEP
associated with Obesity;mRNA:increased expression:adipose tissue associated with hypothalamic disease
RGD
PMID:16865359 , PMID:29522769
RGD:1626632 , RGD:13792596
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il6
interleukin 6
IDA IEP
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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Il6r
interleukin 6 receptor
ISO
protein:decreased expression:serum
RGD
PMID:14962155
RGD:1625431
NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
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Il7
interleukin 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20376352
NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
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Inppl1
inositol polyphosphate phosphatase-like 1
IMP
associated with Metabolic Syndrome X
RGD
PMID:17327370 , PMID:12453826
RGD:2312440 , RGD:2312442
NCBI chr 1:166,898,177...166,912,524
Ensembl chr 1:166,899,894...166,912,524
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11522680 PMID:24648896 PMID:25796170 , PMID:3322910
RGD:2311112
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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Insr
insulin receptor
disease_progression treatment
ISO IEP
mRNA, protein:decreased expression:liver (rat) ClinVar Annotator: match by term: Insulin resistance CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:1314826 PMID:1890161 PMID:1963473 PMID:8202531 PMID:10949030 PMID:11887975 PMID:27896077 , PMID:10949030 , PMID:26300412 , PMID:23538485
RGD:1302523 , RGD:11529553 , RGD:10403037
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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Irs1
insulin receptor substrate 1
ISO
DNA:polymorphism:exon:G972R CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD ClinVar
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
RGD:1624973
NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
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Irs2
insulin receptor substrate 2
ISO
DNA:polymorphism:exon:G1057D CTD Direct Evidence: marker/mechanism
CTD
PMID:25808216 , PMID:15811564
RGD:1625025
NCBI chr16:83,824,515...83,848,569
Ensembl chr16:83,824,430...83,848,684
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Itgam
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
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Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9032110
NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
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Kcnmb1
potassium calcium-activated channel subfamily M regulatory beta subunit 1
IEP
mRNA, protein:decreased expression:aorta, mesenteric artery
RGD
PMID:21425425
RGD:10412047
NCBI chr10:18,910,586...18,922,856
Ensembl chr10:18,906,010...18,919,639
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Klf11
Kruppel-like factor 11
ISO
RGD
PMID:18505768
RGD:2311539
NCBI chr 6:43,829,812...43,841,649
Ensembl chr 6:43,829,945...43,841,651
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Klf14
Kruppel-like factor 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29632379
NCBI chr 4:58,247,876...58,250,798
Ensembl chr 4:58,247,876...58,250,798
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Klk1
kallikrein 1
ISO
RGD
PMID:17272402
RGD:1641794
NCBI chr 1:100,131,562...100,135,556
Ensembl chr 1:100,059,967...100,203,329 Ensembl chr 1:100,059,967...100,203,329 Ensembl chr 1:100,059,967...100,203,329
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Klk1c12
kallikrein 1-related peptidase C12
ISO
RGD
PMID:17272402
RGD:1641794
NCBI chr 1:99,298,965...99,303,048
Ensembl chr 1:99,299,011...99,303,048
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Lep
leptin
IEP ISO IMP
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism|therapeutic DNA:nonsense mutation:cds: associated with Obesity
CTD
PMID:10753628 PMID:11342529 PMID:24150608 , PMID:19296906 , PMID:23800849 , PMID:19419916
RGD:5128697 , RGD:8549777 , RGD:2311127
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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Lepm1Kyo
leptin; ENU induced mutant1, Kyo
IMP
RGD
PMID:23800849
RGD:8549777
G
Lepr
leptin receptor
ISO IAGP
associated with Obesity;DNA:polymorphism: :p.K656N (human) CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K656N (human)
CTD
PMID:19452630 PMID:20567778 PMID:25367288 PMID:28611668 PMID:29988851 PMID:30689673 , PMID:18413223 , PMID:23154293 , PMID:18632178
RGD:2311142 , RGD:13432147 , RGD:2311138
NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
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Leprfa
leptin receptor; fa mutant
IAGP
RGD
PMID:23154293
RGD:13432147
G
Lipc
lipase C, hepatic type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15504970
NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
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Lmna
lamin A/C
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
NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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Lpin1
lipin 1
ISO
RGD
PMID:17563064
RGD:1641822
NCBI chr 6:41,796,214...41,905,149
Ensembl chr 6:41,799,749...41,870,046
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Lpl
lipoprotein lipase
ISO
RGD
PMID:18952837
RGD:2313300
NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
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Lta
lymphotoxin alpha
no_association
ISO
DNA:polymorphism
RGD
PMID:9245742
RGD:1625035
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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Mapk3
mitogen activated protein kinase 3
treatment
IDA
associated with polycystic ovary syndrome
RGD
PMID:23349861
RGD:13800789
NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
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Mc4r
melanocortin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18454146
NCBI chr18:62,612,838...62,614,725
Ensembl chr18:62,612,838...62,614,725
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Metrnl
meteorin-like, glial cell differentiation regulator
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30213948
NCBI chr10:110,893,261...110,907,256
Ensembl chr10:110,893,232...110,907,243
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Mfn2
mitofusin 2
treatment
IEP
RGD
PMID:24715199
RGD:13204838
NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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Mif
macrophage migration inhibitory factor
ISO
protein:increased expression:plasma
RGD
PMID:12552367
RGD:1641955
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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Mir125a
microRNA 125a
ISO
RGD
PMID:31988048
RGD:21403676
NCBI chr 1:59,704,827...59,704,911
Ensembl chr 1:59,704,827...59,704,911
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Mir155
microRNA 155
ISO
miRNA:increased expression:serum
RGD
PMID:29479888 , PMID:27711113
RGD:24922220 , RGD:25671464
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
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Mrc1
mannose receptor, C type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr17:81,352,700...81,433,743
Ensembl chr17:81,352,700...81,433,743
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Nampt
nicotinamide phosphoribosyltransferase
ISO
associated with Polycystic Ovary Syndrome;protein:increased expression:serum
RGD
PMID:17582143
RGD:1642341
NCBI chr 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472
G
Neil1
nei-like DNA glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21285402
NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
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Nfe2l2
nuclear factor, erythroid 2-like 2
ISO
associated with obesity; protein:decreased expression:hepatocyte:
RGD
PMID:32102936
RGD:21201281
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
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Nos2
nitric oxide synthase 2
IEP ISO
mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat)
RGD
PMID:22023455 , PMID:21846719
RGD:5509041 , RGD:5509075
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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Nos3
nitric oxide synthase 3
treatment
IEP ISO
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:11457755 PMID:12716763 PMID:12947532 PMID:19008412 , PMID:18298918 , PMID:28946194
RGD:2292098 , RGD:13450950
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Nppb
natriuretic peptide B
ISO
associated with Obesity and Hypertension;protein:decreased expression:serum
RGD
PMID:17392814
RGD:1642192
NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
susceptibility
ISO
RGD
PMID:16557297
RGD:1625076
NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
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Nr4a1
nuclear receptor subfamily 4, group A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17785466
NCBI chr 7:142,899,358...142,920,216
Ensembl chr 7:142,905,758...142,920,216
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Nr4a3
nuclear receptor subfamily 4, group A, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17785466
NCBI chr 5:63,781,801...63,822,890
Ensembl chr 5:63,781,801...63,821,637
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Parl
presenilin associated, rhomboid-like
IEP
mRNA:decreased expression:gastrocnemius (rat)
RGD
PMID:19859837
RGD:12880442
NCBI chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462
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Pdx1
pancreatic and duodenal homeobox 1
ISO IEP
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 chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO IDA
CTD Direct Evidence: marker/mechanism associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta
CTD
PMID:14714311 , PMID:17283057 , PMID:16332940 , PMID:10426374
RGD:1625211 , RGD:1625212 , RGD:1625262
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
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Pklr
pyruvate kinase L/R
ISO
mRNA, protein:decreased expression:liver
RGD
PMID:12958186
RGD:1625583
NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
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Pla2g1b
phospholipase A2 group IB
susceptibility
ISO
RGD
PMID:12376327
RGD:1302550
NCBI chr12:46,879,346...46,890,234
Ensembl chr12:46,879,343...46,889,082
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Plac8
placenta associated 8
IEP
associated with obesity
RGD
PMID:26296322
RGD:10755343
NCBI chr14:10,692,799...10,714,556
Ensembl chr14:10,692,764...10,714,524
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Plekhs1
pleckstrin homology domain containing S1
IEP
associated with obesity;
RGD
PMID:27523322
RGD:11532750
NCBI chr 1:277,261,493...277,294,194
Ensembl chr 1:277,261,681...277,291,370
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Plin2
perilipin 2
ISO
associated with Obesity
RGD
PMID:17484887
RGD:1625752
NCBI chr 5:104,984,413...105,010,863
Ensembl chr 5:104,984,414...105,010,857
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Pltp
phospholipid transfer protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754275
NCBI chr 3:161,304,469...161,322,289
Ensembl chr 3:161,304,469...161,322,289
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Pmch
pro-melanin-concentrating hormone
IDA
RGD
PMID:16002548
RGD:1642484
NCBI chr 7:28,655,206...28,656,522
Ensembl chr 7:28,654,733...28,657,522
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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 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16168052 PMID:21324916 , PMID:19322024
RGD:5683642
NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
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Ppard
peroxisome proliferator-activated receptor delta
ISO
associated with Obesity associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:14676330 , PMID:19818749
RGD:2324897 , RGD:2313780
NCBI chr20:7,818,289...7,883,482
Ensembl chr20:7,818,289...7,885,333
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
DNA:nonsense mutation CTD Direct Evidence: therapeutic
CTD
PMID:16168052 PMID:21354099 PMID:21484566 , PMID:12118251
RGD:1601446
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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Ppargc1a
PPARG coactivator 1 alpha
ISO IEP
DNA:missense mutation:cds:p.G482S rs8192678 (human) mRNA:decreased expression:liver (rat)
RGD
PMID:23449621 , PMID:22658649
RGD:7241821 , RGD:7242170
NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
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Ppargc1b
PPARG coactivator 1 beta
ISO
RGD
PMID:16896940
RGD:1642499
NCBI chr18:56,626,725...56,650,524
Ensembl chr18:56,626,712...56,728,968
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Ppp1r3a
protein phosphatase 1, regulatory subunit 3A
ISO
DNA:nonsense mutation ClinVar Annotator: match by term: Insulin resistance, susceptibility to DNA:polymorphism:exon:p.D905Y (human)
ClinVar
PMID:7581368 PMID:30311386 , PMID:12118251 , PMID:7581368
RGD:1601446 , RGD:1601468
NCBI chr 4:41,171,486...41,212,116
Ensembl chr 4:41,171,486...41,212,072
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Prdx3
peroxiredoxin 3
IEP
associated with obesity;
RGD
PMID:27523322
RGD:11532750
NCBI chr 1:282,238,774...282,251,193
Ensembl chr 1:282,238,773...282,251,257
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Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
IDA ISO
associated with Obesity CTD Direct Evidence: marker/mechanism
CTD
PMID:19934007 , PMID:22231922
RGD:6484545
NCBI chr 2:54,857,688...54,893,404
Ensembl chr 2:54,857,688...54,893,404
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Prkaa2
protein kinase AMP-activated catalytic subunit alpha 2
susceptibility
ISO
DNA:SNPs CTD Direct Evidence: marker/mechanism
CTD
PMID:19934007 , PMID:16567511
RGD:1625266
NCBI chr 5:124,568,845...124,642,569
Ensembl chr 5:124,574,079...124,642,569
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29367455
NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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Prkcb
protein kinase C, beta
IDA
RGD
PMID:12665248
RGD:1625515
NCBI chr 1:192,233,569...192,575,339
Ensembl chr 1:192,233,910...192,574,831
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Prkcd
protein kinase C, delta
IEP ISO
protein:altered localization:nucleus associated with Obesity;protein:increased activity:adipocyte
RGD
PMID:12217885 , PMID:15507533
RGD:729667 , RGD:1642527
NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
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Prkcq
protein kinase C, theta
IEP
associated with Obesity;protein:decreased expression:skeletal muscle protein:altered localization:skeletal muscle
RGD
PMID:10923637 , PMID:9000691
RGD:1625603 , RGD:1625604
NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286
G
Prkcz
protein kinase C, zeta
ISO
RGD
PMID:12882908
RGD:1642650
NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421
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Prl
prolactin
ISO
associated with Hyperprolactinemia
RGD
PMID:3888755
RGD:1642560
NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
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Pten
phosphatase and tensin homolog
IDA ISO
protein:increased expression, decreased acetylation:liver CTD Direct Evidence: marker/mechanism
CTD
PMID:18303120 , PMID:18385463
RGD:2292521
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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Ptgds
prostaglandin D2 synthase
susceptibility
ISO
RGD
PMID:15970590
RGD:1642581
NCBI chr 3:2,686,125...2,689,059
Ensembl chr 3:2,686,123...2,689,084
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Ptk2b
protein tyrosine kinase 2 beta
ISO
associated with Obesity
RGD
PMID:16039993
RGD:1642605
NCBI chr15:42,827,306...42,947,796
Ensembl chr15:42,827,310...42,947,656
G
Ptpn1
protein tyrosine phosphatase, non-receptor type 1
ISO
DNA:insertion:3'utr:1484insG CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD ClinVar
PMID:10744717 PMID:11833006 , PMID:11833006
RGD:1625240
NCBI chr 3:164,665,462...164,711,936
Ensembl chr 3:164,665,532...164,711,848
G
Ptprf
protein tyrosine phosphatase, receptor type, F
ISO
mouse model overexpressing human transgene
RGD
PMID:11309481 , PMID:9218523
RGD:1642735 , RGD:1642733
NCBI chr 5:137,036,936...137,112,930
Ensembl chr 5:137,036,935...137,112,927
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Pyy
peptide YY
ISO
protein:decreased expression
RGD
PMID:17045646
RGD:1625281
NCBI chr10:90,047,989...90,049,155
Ensembl chr10:90,047,993...90,049,112
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Rb1
RB transcriptional corepressor 1
ISO
mRNA:decreased expression:adipose tissue
RGD
PMID:23315497
RGD:8547988
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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Rela
RELA proto-oncogene, NF-kB subunit
ISO IEP
protein:altered localization:soleus
RGD
PMID:18198644 , PMID:18073321
RGD:2298857 , RGD:2298860
NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
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Retn
resistin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16493877 , PMID:18789551
RGD:2313499
NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
G
Rrad
RRAD, Ras related glycolysis inhibitor and calcium channel regulator
ISO
RGD
PMID:16537411
RGD:2311703
NCBI chr19:561,696...564,929
Ensembl chr19:561,727...564,930
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Scd
stearoyl-CoA desaturase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21661758
NCBI chr 1:264,159,966...264,173,061
Ensembl chr 1:264,160,129...264,172,729
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Selenop
selenoprotein P
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14714311
NCBI chr 2:53,105,912...53,116,198
Ensembl chr 2:53,109,684...53,114,858
G
Serpina1
serpin family A member 1
ISO
RGD
PMID:16752182
RGD:1601202
NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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Serpine1
serpin family E member 1
treatment
IEP IDA
mRNA:increased expression:white adipose tissue (rat)
RGD
PMID:19776253 , PMID:26188590
RGD:8547949 , RGD:11073726
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Serpinf1
serpin family F member 1
treatment
ISO IDA
associated with Hypertension human protein in a rat model
RGD
PMID:19073347 , PMID:22714715 , PMID:24288442
RGD:2312339 , RGD:8655563 , RGD:8642993
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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Shc1
SHC adaptor protein 1
ISO
mRNA:increased expression:adipose tissue
RGD
PMID:17986714
RGD:1643171
NCBI chr 2:188,745,503...188,757,066
Ensembl chr 2:188,745,503...188,757,066
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Si
sucrase-isomaltase
IEP
associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine
RGD
PMID:9878708
RGD:1625544
NCBI chr 2:170,220,794...170,301,348
Ensembl chr 2:170,221,245...170,301,348
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Sirt1
sirtuin 1
treatment
IDA ISO
associated with Obesity CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:20068143 PMID:21321189 PMID:24442997 PMID:25849131 PMID:26026874 , PMID:19996381
RGD:9585759
NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
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Sirt4
sirtuin 4
IEP
RGD
PMID:20651844
RGD:9586052
NCBI chr12:46,862,358...46,876,593
Ensembl chr12:46,868,416...46,876,592
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Slc27a1
solute carrier family 27 member 1
IDA
protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet
RGD
PMID:17400720
RGD:1642795
NCBI chr16:19,997,823...20,016,193
Ensembl chr16:19,999,112...20,016,190
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Slc27a4
solute carrier family 27 member 4
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:15168018
RGD:1625638
NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
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Slc2a3
solute carrier family 2 member 3
ISO
RGD
PMID:11436180
RGD:1642802
NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
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Slc2a4
solute carrier family 2 member 4
ISO
associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle CTD Direct Evidence: therapeutic
CTD
PMID:11947963 , PMID:18778861
RGD:2313624
NCBI chr10:56,552,921...56,558,562
Ensembl chr10:56,552,983...56,558,487
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Socs1
suppressor of cytokine signaling 1
ISO
associated with Diabetes Mellitus
RGD
PMID:15240880
RGD:1625677
NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
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Socs3
suppressor of cytokine signaling 3
susceptibility
ISO
associated with Diabetes Mellitus associated with Obesity
RGD
PMID:15240880 , PMID:17295835
RGD:1625677 , RGD:2313789
NCBI chr10:106,973,863...106,976,969
Ensembl chr10:106,975,178...106,976,040
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22829583
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Sod3
superoxide dismutase 3
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma
RGD
PMID:15171689
RGD:1625698
NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
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Sorbs1
sorbin and SH3 domain containing 1
susceptibility
ISO
RGD
PMID:17351624
RGD:1642731
NCBI chr 1:259,373,921...259,502,108
Ensembl chr 1:259,376,933...259,484,569
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Sox6
SRY-box transcription factor 6
ISO
RGD
PMID:16148004
RGD:1581307
NCBI chr 1:185,631,702...186,186,192
Ensembl chr 1:185,673,177...186,182,829
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Srebf1
sterol regulatory element binding transcription factor 1
susceptibility
ISO IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP CTD Direct Evidence: marker/mechanism associated with Fatty Liver;mRNA:increased expression:liver
CTD
PMID:22658938 , PMID:18692268 , PMID:17241878
RGD:2308809 , RGD:2308807
NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
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Srebf1_v2
sterol regulatory element binding factor 1, variant 2
IEP
associated with Fatty Liver;mRNA:increased expression:liver
RGD
PMID:17241878
RGD:2308807
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Srebf2
sterol regulatory element binding transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20699619
NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
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Stk11
serine/threonine kinase 11
IEP
associated with obesity;protein:decreased expression:gastrocnemius
RGD
PMID:16352671
RGD:1601389
NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
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Sts
steroid sulfatase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24497646
NCBI chr X:45,420,418...45,428,748
Ensembl chr X:45,420,596...45,428,750
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Syn1
synapsin I
IEP
RGD
PMID:29566703
RGD:13542091
NCBI chr X:1,321,315...1,379,202
Ensembl chr X:1,321,315...1,379,198
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Tbc1d4
TBC1 domain family, member 4
ISO
ClinVar Annotator: match by term: Insulin resistance
ClinVar
NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
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Tcf7l2
transcription factor 7 like 2
ISO
DNA:SNP (human)
RGD
PMID:19509102
RGD:2312433
NCBI chr 1:276,686,911...276,730,517
Ensembl chr 1:276,659,542...276,730,514 Ensembl chr 1:276,659,542...276,730,514
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Tf
transferrin
IEP
protein:increased expression:plasma
RGD
PMID:17350134
RGD:1601515
NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
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Tfap2b
transcription factor AP-2 beta
ISO
RGD
PMID:16373417
RGD:1601544
NCBI chr 9:25,410,669...25,440,568
Ensembl chr 9:25,410,669...25,440,411
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Thbd
thrombomodulin
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:11453033
RGD:2312460
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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Tlr4
toll-like receptor 4
severity
ISO
associated with Obesity protein:increased expression:skeletal muscle
RGD
PMID:19675137 , PMID:17426960 , PMID:18633101
RGD:2312483 , RGD:1620681 , RGD:2312489
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tnf
tumor necrosis factor
treatment
IDA IMP ISO IEP
associated with obesity CTD Direct Evidence: marker/mechanism associated with Obesity
CTD
PMID:16493877 PMID:20943792 , PMID:14764603 , PMID:9832430 , PMID:25016878
RGD:1580214 , RGD:14995428 , RGD:10450578
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
associated with obesity;protein:increased expression:serum
RGD
PMID:15936463
RGD:1620889
NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression
RGD
PMID:11882518
RGD:1624180
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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Trib3
tribbles pseudokinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20461355
NCBI chr 3:147,814,056...147,819,650
Ensembl chr 3:147,813,473...147,819,571
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Tsc1
TSC complex subunit 1
ISO
RGD
PMID:15380067
RGD:1624197
NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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Ucp1
uncoupling protein 1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human)
RGD
PMID:16338218
RGD:1624979
NCBI chr19:24,456,976...24,464,808
Ensembl chr19:24,456,976...24,464,807
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Ucp2
uncoupling protein 2
ISO
DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human)
RGD
PMID:17870627
RGD:2313512
NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
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Ucp3
uncoupling protein 3
ISO
DNA:polymorphism:promoter:-55C>T (human)
RGD
PMID:17870627 , PMID:17571165
RGD:2313512 , RGD:2313515
NCBI chr 1:165,482,912...165,495,895
Ensembl chr 1:165,482,155...165,496,206
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Vcam1
vascular cell adhesion molecule 1
ISO
RGD
PMID:11882338
RGD:1580351
NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
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Vdr
vitamin D receptor
ISO
RGD
PMID:25801026
RGD:14402022
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Vwf
von Willebrand factor
ISO
protein:increased expression:plasma
RGD
PMID:16631442
RGD:1625711
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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Xbp1
X-box binding protein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27325692 , PMID:15486293
RGD:2326004
NCBI chr14:85,753,736...85,758,820
Ensembl chr14:85,753,760...85,758,145
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Insr
insulin receptor
ISO
ClinVar Annotator: match by term: IRAN, TYPE A ClinVar Annotator: match by OMIM:610549
OMIM ClinVar
PMID:1644241 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 PMID:2121734 PMID:2203761 PMID:2211730 PMID:2365819 PMID:2460770 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:24033266 PMID:25741868 PMID:27896077 PMID:28492532
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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Abca1
ATP binding cassette subfamily A member 1
susceptibility
ISO
DNA:SNP:exon:p.R230C (rs9282541) (human)
RGD
PMID:17287470
RGD:1601092
NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
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Acadvl
acyl-CoA dehydrogenase, very long chain
treatment
IDA
RGD
PMID:25191539
RGD:10047118
NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
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Acat2
acetyl-CoA acetyltransferase 2
susceptibility
ISO
DNA:polymorphism
RGD
PMID:14557872
RGD:1581921
NCBI chr 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human) CTD Direct Evidence: marker/mechanism associated with vascular diseases; protein:decreased expression:plasma protein:decreased expression:serum
CTD
PMID:16793964 PMID:17618945 PMID:18162013 PMID:20833989 , PMID:19690575 , PMID:17893004 , PMID:21625822 , PMID:21976521
RGD:2313234 , RGD:5686800 , RGD:5686428 , RGD:5686407
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Adrb2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphisms: :p.R16G, p.Q27E
RGD GAD
PMID:14557466 , PMID:15118671
RGD:1601127 , RGD:1331525
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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Agt
angiotensinogen
IEP
mRNA, protein:increased expression:adipose tissue
RGD
PMID:17260464
RGD:1601134
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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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 chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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Akp3
alkaline phosphatase 3, intestine, not Mn requiring
ISO
RGD
PMID:23569246
RGD:14349049
NCBI chr 9:94,228,960...94,232,001
Ensembl chr 9:94,228,960...94,232,001
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Aldoa
aldolase, fructose-bisphosphate A
IEP
mRNA:increased expression:aorta
RGD
PMID:21890532
RGD:13673877
NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
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Alpl
alkaline phosphatase, biomineralization associated
susceptibility
ISO
protein:increased expression:serum
RGD
PMID:16249437
RGD:1601174
NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
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Apoa1
apolipoprotein A1
IEP ISO
protein:decreased expression DNA: polymorphism: :G2, G3 and G5
RGD
PMID:17217166 , PMID:21410987
RGD:1601183 , RGD:5508220
NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
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Apoa2
apolipoprotein A2
ISO
protein:decreased expression:serum
RGD
PMID:19817643
RGD:2313955
NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
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Apoa5
apolipoprotein A5
susceptibility
ISO
DNA:polymorphism: :p.S19W (human)
RGD
PMID:18789138
RGD:2313315
NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
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Apob
apolipoprotein B
ISO
protein:increased expression:plasma
RGD
PMID:16828905
RGD:1601198
NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
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Apoc3
apolipoprotein C3
susceptibility
IEP ISO
protein:increased expression:serum DNA:polymorphism:promoter:-482C>T, -455T>C
RGD
PMID:16298371 , PMID:17416293
RGD:2306766 , RGD:1601223
NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
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Apom
apolipoprotein M
ISO
protein:decreased expression:plasma
RGD
PMID:19539616
RGD:2314236
NCBI chr20:5,120,473...5,123,073
Ensembl chr20:5,120,474...5,123,073
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Atm
ATM serine/threonine kinase
ISO
RGD
PMID:17084711
RGD:1601248
NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
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Atp12a
ATPase H+/K+ transporting non-gastric alpha2 subunit
IEP
RGD
PMID:23320804
RGD:13838660
NCBI chr15:36,561,306...36,590,171
Ensembl chr15:36,565,495...36,590,171
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Bche
butyrylcholinesterase
ISO
protein:increased expression:serum
RGD
PMID:15907830
RGD:1601317
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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Bdnf
brain-derived neurotrophic factor
ISO
RGD
PMID:11935372
RGD:1580935
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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Bglap
bone gamma-carboxyglutamate protein
ISO
protein:decreased expression:serum
RGD
PMID:21760737
RGD:6483594
NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
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C3
complement C3
ISO
RGD
PMID:16488421
RGD:2314030
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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Capn10
calpain 10
ISO
DNA:polymorphism
RGD
PMID:16546286
RGD:1625050
NCBI chr 9:100,104,000...100,112,833
Ensembl chr 9:100,104,000...100,112,832
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Cck
cholecystokinin
ISO
RGD
PMID:17443025
RGD:1625798
NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16188961 PMID:18486454
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Ccl5
C-C motif chemokine ligand 5
IEP
protein:increased secretion:plasma (rat)
RGD
PMID:19905967
RGD:4889977
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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Cd36
CD36 molecule
ISO IAGP
DNA:SNPs: :multiple (human)
RGD
PMID:18305138 , PMID:9916795
RGD:2307208 , RGD:619666
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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Cd40lg
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:16423632 , PMID:20006362
RGD:2314214 , RGD:5490591
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Cela2a
chymotrypsin like elastase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31358993
NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
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Chek2
checkpoint kinase 2
IEP
mRNA:increased expression:heart left ventricle (rat)
RGD
PMID:25129990
RGD:10400905
NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
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Ciita
class II, major histocompatibility complex, transactivator
ISO
DNA:polymorphism:promoter:-168A>G (human)
RGD
PMID:17183695
RGD:5491201
NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
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Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16644639 , PMID:21357282
RGD:6482318
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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Cst3
cystatin C
ISO
protein:increased expression:serum (human)
RGD
PMID:19887833
RGD:2314295
NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
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Cyba
cytochrome b-245 alpha chain
IEP
RGD
PMID:16741160
RGD:2317864
NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
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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 chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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Cyp11b3
cytochrome P450, family 11, subfamily b, polypeptide 3
susceptibility
ISO
DNA:polymorphism:promoter:-344C>T (human)
RGD
PMID:17261471
RGD:2307294
NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
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Dgat1
diacylglycerol O-acyltransferase 1
treatment
ISO
RGD
PMID:21990351
RGD:10401057
NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
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Dio2
iodothyronine deiodinase 2
ISO
DNA:polymorphism: :p.T92A (human)
RGD
PMID:18198294
RGD:2313696
NCBI chr 6:114,475,156...114,489,443
Ensembl chr 6:114,476,142...114,476,723
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Ephx2
epoxide hydrolase 2
IMP
RGD
PMID:22007192
RGD:5688391
NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
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F3
coagulation factor III, tissue factor
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:12417540
RGD:2313865
NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
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Fabp2
fatty acid binding protein 2
ISO
RGD
PMID:16919542
RGD:1626401
NCBI chr 2:227,080,912...227,083,654
Ensembl chr 2:227,080,924...227,083,501
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Fabp4
fatty acid binding protein 4
ISO
protein:increased expression:serum
RGD
PMID:16919044
RGD:1625406
NCBI chr 2:93,792,666...93,797,267
Ensembl chr 2:93,792,601...93,797,305
G
Fadd
Fas associated via death domain
IEP
protein:increased expression:heart left ventricle
RGD
PMID:23657904
RGD:11344884
NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
G
Fgf19
fibroblast growth factor 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28673684
NCBI chr 1:218,058,405...218,061,693
Ensembl chr 1:218,058,405...218,061,693
G
Fgf21
fibroblast growth factor 21
treatment
ISO
RGD
PMID:25306889
RGD:10401890
NCBI chr 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822
G
G6pd
glucose-6-phosphate dehydrogenase
treatment
IEP
RGD
PMID:19374165 , PMID:24868532
RGD:2307350 , RGD:10449117
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
G
Gckr
glucokinase regulator
ISO
RGD
PMID:19861489
RGD:7242423
NCBI chr 6:26,355,296...26,385,761
Ensembl chr 6:26,355,296...26,385,761
G
Ggt1
gamma-glutamyltransferase 1
susceptibility
ISO
RGD
PMID:17095717 , PMID:24847614
RGD:1601300 , RGD:14747015
NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
G
Ghrl
ghrelin and obestatin prepropeptide
ISO
DNA:polymorphisms ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to In peritoneal dialysis patients associated with Kidney Diseases;protein:decreased expression:serum
ClinVar
PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 , PMID:16204371 , PMID:18552255 , PMID:18996292
RGD:1625021 , RGD:7242555 , RGD:2313748
NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
G
Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:29452132
RGD:14700976
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
G
Hdac3
histone deacetylase 3
IEP
RGD
PMID:21763752
RGD:9590183
NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
G
Hgf
hepatocyte growth factor
ISO
RGD
PMID:15713721
RGD:1642702
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
G
Hmga1
high mobility group AT-hook 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23512162
NCBI chr20:7,132,501...7,140,155
Ensembl chr20:7,136,007...7,138,980
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
IMP
RGD
PMID:19461650
RGD:5508692
NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
G
Hmox1
heme oxygenase 1
treatment
IEP
RGD
PMID:22193921
RGD:10763276
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
G
Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
RGD
PMID:16804065
RGD:1601642
NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
G
Hp
haptoglobin
treatment
ISO IDA
protein:increased expression
RGD
PMID:17007284 , PMID:20508159
RGD:1626341 , RGD:11041859
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
G
Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
IEP
RGD
PMID:14697232
RGD:1625074
NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
G
Htr2c
5-hydroxytryptamine receptor 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17632216 PMID:18515891 PMID:19142101
NCBI chr X:118,084,520...118,318,040
Ensembl chr X:118,084,890...118,318,039
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:19394054
RGD:2313467
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
susceptibility
ISO
RGD
PMID:31064654
RGD:14985252
NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
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Igf2
insulin-like growth factor 2
IAGP
DNA:insertion
RGD
PMID:18418699
RGD:2311520
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
G
Igfbp2
insulin-like growth factor binding protein 2
ISO
RGD
PMID:16915540
RGD:1626481
NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
G
Il18
interleukin 18
treatment
IEP ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD
PMID:16644639 , PMID:19717152 , PMID:24456735
RGD:4889401 , RGD:8655985
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16644639
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Il6r
interleukin 6 receptor
susceptibility
ISO
DNA:polymorphism: :p.D358A
RGD
PMID:16817825
RGD:1625430
NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
G
Inppl1
inositol polyphosphate phosphatase-like 1
ISO
DNA:SNPs: :rs2276047,snp8(human) CTD Direct Evidence: marker/mechanism
CTD
PMID:15220217 , PMID:15220217
RGD:1626127
NCBI chr 1:166,898,177...166,912,524
Ensembl chr 1:166,899,894...166,912,524
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11274935 PMID:16259526
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
G
Irs1
insulin receptor substrate 1
IEP
protein:decreased expression:skeletal muscle
RGD
PMID:10842668
RGD:6482864
NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
G
Itgav
integrin subunit alpha V
ISO
RGD
PMID:16784924
RGD:1627640
NCBI chr 3:71,113,269...71,205,958
Ensembl chr 3:71,114,100...71,202,411
G
Kl
Klotho
IEP ISO
mRNA:decreased expression:kidney:
RGD
PMID:11027545 , PMID:11027545
RGD:10403056 , RGD:10403056
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
G
Lbp
lipopolysaccharide binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349936
NCBI chr 3:154,786,232...154,812,910
Ensembl chr 3:154,786,215...154,813,464
G
Lep
leptin
ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma (rat)
CTD
PMID:16793964 PMID:18515891 , PMID:19462476 , PMID:25380250
RGD:2311125 , RGD:10053625
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
G
Lipg
lipase G, endothelial type
ISO
RGD
PMID:16354105
RGD:1580865
NCBI chr18:70,903,528...70,924,434
Ensembl chr18:70,901,710...70,924,708
G
Lmna
lamin A/C
ISO
DNA:SNP: :c.138747C>T (human)
RGD
PMID:15205219
RGD:2306121
NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
G
Lrp6
LDL receptor related protein 6
ISO
DNA:missense mutation:cds
RGD
PMID:17332414
RGD:2298725
NCBI chr 4:168,194,054...168,323,962
Ensembl chr 4:168,194,927...168,323,751
G
Lrpap1
LDL receptor related protein associated protein 1
susceptibility
ISO
associated with Coronary Disease;DNA:SNP:exon
RGD
PMID:14557872
RGD:1581921
NCBI chr14:80,911,281...80,923,290
Ensembl chr14:80,911,270...80,924,831
G
Mir122
microRNA 122
ISO
miRNA:increased expression:serum
RGD
PMID:27899485
RGD:14401601
NCBI chr18:60,755,285...60,755,369
G
Nampt
nicotinamide phosphoribosyltransferase
ISO IAGP
protein:increased expression:plasma DNA:repeats:intron
RGD
PMID:17556870 , PMID:15922301
RGD:1642337 , RGD:1642345
NCBI chr 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472
G
Neil1
nei-like DNA glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16446448 PMID:17389588
NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
G
Ngf
nerve growth factor
ISO
RGD
PMID:11935372
RGD:1580935
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
G
Nos3
nitric oxide synthase 3
treatment
ISO IDA IMP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
CTD ClinVar
PMID:12947532 PMID:15269839 PMID:20876122 PMID:28361419 , PMID:28967023 , PMID:29127233
RGD:13461762 , RGD:13450928
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
G
Nox1
NADPH oxidase 1
ISO
protein:increased expression, increased activity:peripheral blood mononuclear cell (human)
RGD
PMID:16380495
RGD:1580973
NCBI chr X:104,909,328...104,932,508
Ensembl chr X:104,909,326...104,932,508
G
Nr1i2
nuclear receptor subfamily 1, group I, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20869355
NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
G
Nr1i3
nuclear receptor subfamily 1, group I, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20869355
NCBI chr13:89,585,072...89,591,278
Ensembl chr13:89,586,283...89,591,277
G
Pla2g4a
phospholipase A2 group IVA
IEP
mRNA:decreased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
G
Pla2g6
phospholipase A2 group VI
IEP
mRNA:decreased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
G
Pla2g7
phospholipase A2 group VII
IEP
mRNA:increased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
G
Plat
plasminogen activator, tissue type
ISO
protein:increased expression:serum
RGD
PMID:18249307
RGD:2311664
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
G
Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21573798 , PMID:14602783
RGD:1642618
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
G
Pparg
peroxisome proliferator-activated receptor gamma
no_association
ISO IDA
DNA:SNP: :p.P12A (human)
RGD
PMID:18959602 , PMID:16186413 , PMID:16183630
RGD:2301843 , RGD:1580686 , RGD:1580683
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
G
Ppargc1a
PPARG coactivator 1 alpha
IEP
mRNA:decreased expression:gastrocnemius muscle (rat)
RGD
PMID:20383225
RGD:10059661
NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
G
Prl
prolactin
ISO
RGD
PMID:16303834
RGD:1642558
NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
G
Ptgs2
prostaglandin-endoperoxide synthase 2
IEP
protein:increased expression:liver
RGD
PMID:17883899
RGD:1642586
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
G
Reg1a
regenerating family member 1 alpha
treatment
IDA
RGD
PMID:21685239
RGD:10044029
NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
G
Retn
resistin
ISO
DNA:SNP:promoter:-420G>C (rs1862513) (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:18328350 , PMID:17598818
RGD:7207155
NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
G
Selp
selectin P
ISO
RGD
PMID:19061719
RGD:2312292
NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
G
Serpina12
serpin family A member 12
treatment
ISO
human protein in a mouse model
RGD
PMID:16030142
RGD:1547845
NCBI chr 6:127,696,501...127,711,238
Ensembl chr 6:127,696,252...127,711,212
G
Serpine1
serpin family E member 1
treatment
IDA
RGD
PMID:26084260
RGD:11073736
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
G
Shbg
sex hormone binding globulin
ISO
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism
CTD
PMID:16968811 PMID:17992261 , PMID:17884445
RGD:2313785
NCBI chr10:56,219,861...56,237,354
Ensembl chr10:56,219,858...56,223,245
G
Sirt1
sirtuin 1
treatment
IDA ISO IEP
CTD Direct Evidence: marker/mechanism protein:decreased expression:hippocampus (rat)
CTD
PMID:20068143 , PMID:21514307 , PMID:25356430
RGD:9585758 , RGD:10053569
NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
G
Slc27a1
solute carrier family 27 member 1
susceptibility
ISO
RGD
PMID:16611988
RGD:1642790
NCBI chr16:19,997,823...20,016,193
Ensembl chr16:19,999,112...20,016,190
G
Soat2
sterol O-acyltransferase 2
susceptibility
ISO
DNA:SNPs
RGD
PMID:14557872
RGD:1581921
NCBI chr 7:143,754,892...143,767,989
Ensembl chr 7:143,754,892...143,767,989
G
Sod2
superoxide dismutase 2
treatment
ISO
RGD
PMID:28875871
RGD:26923956
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
G
Tf
transferrin
susceptibility
ISO
protein:increased expression:serum
RGD
PMID:17416791
RGD:1601514
NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
G
Tgfb1
transforming growth factor, beta 1
IEP
mRNA:increased expression:left heart ventricle
RGD
PMID:18692559
RGD:2306739
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
G
Thbd
thrombomodulin
ISO
associated with Diabetic Nephropathies;protein:increased expression:plasma
RGD
PMID:16567841
RGD:1601641
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
G
Tnf
tumor necrosis factor
treatment
IEP
RGD
PMID:24441717
RGD:10450604
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
associated with obesity;protein:increased expression:plasma
RGD
PMID:17200772
RGD:1624178
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
G
Trib3
tribbles pseudokinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18497449
NCBI chr 3:147,814,056...147,819,650
Ensembl chr 3:147,813,473...147,819,571
G
Vcam1
vascular cell adhesion molecule 1
IEP
RGD
PMID:18718174
RGD:2313109
NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
G
Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:plasma:
RGD
PMID:22206010
RGD:7483588
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
G
Vwf
von Willebrand factor
ISO
protein:increased expression:plasma
RGD
PMID:16764036
RGD:1625709
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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