hyperinsulinism - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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	go back to main search page
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:	HEREDITARY HYPERINSULINISM; HYPERINSULINISM DUE TO HNF4A DEFICIENCY; HYPERINSULINISM, DOMINANT; HYPERINSULINISM, DOMINANT/RECESSIVE; UCP2-RELATED CONDITION
	primary_id:	MESH:D006946
	xref:	ICD10CM:E16.1
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (597) Mouse (352) Human (1977) Chinchilla (322) Bonobo (340) Dog (340) Squirrel (330) Pig (334) Green Monkey (336) Naked Mole-rat (324) All
Genes (360) QTL (211) Strains (26)

hyperinsulinism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

susceptibility

ClinVar Annotator: match by term: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive

PMID:1021286 PMID:7716548 PMID:8923011 PMID:9041101 PMID:9075812 More...

RGD:1625279, RGD:1598639

NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510

G

adenylate cyclase activating polypeptide 1

RGD

NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773

G

adiponectin, C1Q and collagen domain containing

RGD

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

adiponectin receptor 1

mRNA:decreased expression:skeletal muscle cell

RGD

NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241

G

adiponectin receptor 2

mRNA:increased expression:skeletal muscle cell

RGD

NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355

G

adrenomedullin

associated with Obesity;protein:increased expression:plasma

RGD

NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654

G

adrenoceptor alpha 1B

susceptibility

PMID:14581480 PMID:14581480

RGD:1625772, RGD:1625772

NCBI chr10:28,255,025...28,373,418
Ensembl chr10:28,255,025...28,312,919

G

adrenoceptor beta 3

associated with Obesity;mRNA:decreased expression:epidydimis, white fat

RGD

NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552

G

angiotensinogen

associated with obesity;DNA:polymorphism: :p.M235T

RGD

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 1a

RGD

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

Bardet-Biedl syndrome 1

RGD

NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086

G

bromodomain containing 2

RGD

NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388

G

C-C motif chemokine ligand 2

mRNA, protein:increased expression:aorta (rat)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:29035695 PMID:17180354

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

CD163 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878

G

CD40 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

Cd68 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697

G

cyclin-dependent kinase inhibitor 1C

DNA:loss of heterozygosity:pancreatic islet

RGD

NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048

G

collagen type III alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547

G

dopa decarboxylase

protein:increased expression:pancreatic beta cell (human)

RGD

NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208

G

FA complementation group A

CTD Direct Evidence: marker/mechanism

NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527

G

FA complementation group C

CTD Direct Evidence: marker/mechanism

NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376

G

fibrillin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

G

forkhead box A2

RGD

NCBI chr 3:135,470,123...135,474,326
Ensembl chr 3:135,470,131...135,474,326

G

glucagon

CTD Direct Evidence: marker/mechanism

NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929

G

glucokinase

hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M
ClinVar Annotator: match by term: Hyperinsulinism, Dominant

PMID:27269892 PMID:29510678 PMID:30257192 PMID:31197960 PMID:32375122 More...

NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995

G

glutamine fructose-6-phosphate transaminase 1

mRNA:increased expression:gastrocnemius

RGD

NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471

G

gastric inhibitory polypeptide

protein:decreased expression:plasma (rat)

RGD

NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503

G

glutamate dehydrogenase 1

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
RGD

PMID:9571255 PMID:25741868 PMID:26467025 PMID:28492532 PMID:10636977 More...

RGD:1601353, RGD:6484656

NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957

G

glutathione peroxidase 1

CTD Direct Evidence: marker/mechanism

PMID:15184668 PMID:18560803

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

hydroxyacyl-CoA dehydrogenase

ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive

PMID:25741868 PMID:28492532 PMID:29280746 PMID:34055426 PMID:34547194

NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353

G

heme oxygenase 1

CTD Direct Evidence: therapeutic

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

hepatocyte nuclear factor 4, alpha

ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency | ClinVar Annotator: match by term: Hyperinsulinism, Dominant

PMID:9267996 PMID:9313765 PMID:9449683 PMID:10983627 PMID:15793260 More...

NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320

G

haptoglobin

protein:increased expression:serum

RGD

NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523

G

interleukin 6

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

insulin 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:2991050 PMID:3511099 PMID:4019786 PMID:6382002 PMID:36764371 More...

NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775

G

insulin receptor

CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.P1195L (mouse)

CTD
RGD

PMID:10949030 PMID:18411068 PMID:10949030 PMID:21549686

RGD:1302523, RGD:10403034

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

G

iron responsive element binding protein 2

protein:increased expression:liver (rat)

RGD

NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611

G

insulin receptor substrate 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122

G

integrin subunit alpha M

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503

G

potassium inwardly-rectifying channel, subfamily J, member 11

ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive
protein:substitution: :p.H259R (human)

PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 More...

RGD:1625279, RGD:1625277

NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082

G

leptin

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:9826672 PMID:22948215

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

leptin; zinc finger nuclease induced mutant1, Sage

RGD

G

leptin receptor

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:3519326 PMID:15093691 PMID:22949526 PMID:24384915 PMID:25222487 More...

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh

RGD

G

lipase C, hepatic type

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 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464

G

lymphotoxin alpha

associated with Coronary Arteriosclerosis

RGD

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

G

melanocortin 4 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719

G

mahogunin ring finger 1

RGD

NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315

G

mannose receptor, C type 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857

G

microsomal triglyceride transfer protein

susceptibility

DNA:polymorphism:promoter:-493G>T

RGD

NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239

G

nei-like DNA glycosylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258

G

nitric oxide synthase 3

CTD Direct Evidence: therapeutic

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

neuropeptide Y receptor Y5

RGD

NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382

G

presenilin associated, rhomboid-like

no_association

DNA:missense mutation:cds:p.L262V (human)

RGD

PMID:15729572 PMID:19185381

RGD:12880443, RGD:12880445

NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506

G

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1

associated with Obesity;protein:increased expression:liver

RGD

NCBI chr X:19,508,522...19,562,165
Ensembl chr X:19,508,546...19,562,182

G

pyruvate kinase L/R

mRNA:increased expression:liver

RGD

NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870

G

protein kinase C, delta

RGD

NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352

G

protein kinase C, theta

associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus

RGD

NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704

G

phosphatase and tensin homolog

protein:decreased expression:ovary

RGD

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

protein tyrosine phosphatase, non-receptor type 1

CTD Direct Evidence: therapeutic
associated with Carotid Artery Injuries;mRNA, protein:altered expression, altered activity:carotid artery (rat)

CTD
RGD

PMID:28899902 PMID:19011046

NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504

G

protein tyrosine phosphatase, receptor type, F

mouse model overexpressing human transgene

RGD

NCBI chr 5:131,741,959...131,824,000
Ensembl chr 5:131,742,754...131,810,023

G

retinol binding protein 4

onset

associated with coronary artery disease;protein:increased expression:blood serum (human)

RGD

NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399

G

ribosomal protein S6 kinase B1

protein:increased phosphorylation:liver, skeletal muscle

RGD

NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908

G

stearoyl-CoA desaturase

associated with Obesity

RGD

NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562

G

shieldin complex subunit 2

ClinVar Annotator: match by term: Hyperinsulinism, Dominant

NCBI chr16:9,544,940...9,640,323
Ensembl chr16:9,548,660...9,639,965

G

solute carrier family 16 member 1

ClinVar Annotator: match by term: Hyperinsulinism, Dominant

PMID:25741868 PMID:28492532

NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611

G

solute carrier family 27 member 1

protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle

RGD

NCBI chr16:18,278,984...18,300,173
Ensembl chr16:18,278,984...18,296,063

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TSC22 domain family, member 3

CTD Direct Evidence: marker/mechanism

NCBI chr X:104,217,898...104,277,886
Ensembl chr X:104,217,925...104,276,861

G

thioredoxin interacting protein

susceptibility

DNA:nonsense mutation

RGD

NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886

G

uncoupling protein 2

ClinVar Annotator: match by term: UCP2-related condition

PMID:25741868 PMID:28492532

NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611

abdominal obesity-metabolic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cardiotrophin 1

NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335

G

guanylate cyclase 2C

NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092

G

leptin

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

nei-like DNA glycosylase 1

NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258

G

peroxisome proliferator activated receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

G

peroxisome proliferator-activated receptor gamma

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

PPARG coactivator 1 alpha

mRNA:increased expression:gastrocnemius muscle (rat)

RGD

NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656

G

protein kinase C, iota

NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352

G

sirtuin 3

NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808

G

solute carrier family 2 member 9

NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981

abdominal obesity-metabolic syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

protein:increased oxidation:cardiac muscle cell

RGD

NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101

G

BCL2 associated X, apoptosis regulator

treatment

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

BCL2, apoptosis regulator

treatment

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

Fas associated via death domain

treatment

RGD

NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653

G

Fas cell surface death receptor

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

leptin

OMIM:605552

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

lipoprotein lipase

treatment

RGD

NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249

G

microsomal triglyceride transfer protein

ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1

PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 More...

NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239

G

toll-like receptor 2

susceptibility

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

tumor protein p53 inducible nuclear protein 1

OMIM:605552

NCBI chr 5:24,253,986...24,272,250
Ensembl chr 5:24,260,568...24,267,968

abdominal obesity-metabolic syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT hook, DNA binding motif, containing 1

ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3

PMID:25741868 PMID:29696776 PMID:33644933

NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145

G

dual specificity tyrosine phosphorylation regulated kinase 1B

ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: DYRK1B-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:25741909 More...

NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169

abdominal obesity-metabolic syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chymotrypsin like elastase 2A

ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4

PMID:25741868 PMID:31358993

NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632

Congenital Hyperinsulinism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
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
CTD
RGD

PMID:3202066 PMID:7716548 PMID:8751851 PMID:8923011 PMID:9041101 More...

RGD:704365, RGD:12790723, RGD:11069847, RGD:12790596, RGD:11067821, RGD:12790587, RGD:11070657, RGD:12743628

NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510

G

glucokinase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hyperinsulinism

PMID:15277402 PMID:19053014 PMID:19336674 PMID:21831042 PMID:23890519 More...

NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995

G

glutamate dehydrogenase 1

RGD

NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957

G

hydroxyacyl-CoA dehydrogenase

DNA:deletion:cds (human)

RGD

NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353

G

hepatocyte nuclear factor 4, alpha

DNA:mutations: :
ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism

PMID:10227563 PMID:10447526 PMID:10983627 PMID:12669197 PMID:15281001 More...

NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320

G

potassium inwardly-rectifying channel, subfamily J, member 11

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
RGD

PMID:9867219 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 More...

RGD:12790723, RGD:11069847, RGD:12790587, RGD:12743643, RGD:12743624

NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082

G

potassium sodium-activated channel subfamily T member 2

ClinVar Annotator: match by term: KCNT2-related condition

PMID:25741868 PMID:29069600

NCBI chr13:51,664,129...52,059,209
Ensembl chr13:51,664,686...52,056,987

G

TBC1 domain family, member 4

RGD

NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265

familial hyperinsulinemic hypoglycemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

ClinVar Annotator: match by term: Congenital isolated hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1

PMID:1021286 PMID:2198959 PMID:3202066 PMID:7716548 PMID:8650576 More...

NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510

G

hydroxyacyl-CoA dehydrogenase

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1

PMID:25741868 PMID:28492532 PMID:29280746 PMID:34055426 PMID:34547194

NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353

G

potassium inwardly-rectifying channel, subfamily J, member 11

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1

PMID:15580558 PMID:15718250 PMID:16885549 PMID:17466004 PMID:18414213 More...

NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082

familial hyperinsulinemic hypoglycemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2

PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 More...

NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510

G

potassium inwardly-rectifying channel, subfamily J, member 11

susceptibility

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2

PMID:7847376 PMID:8897013 PMID:8923010 PMID:9356020 PMID:9867219 More...

NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082

familial hyperinsulinemic hypoglycemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glucokinase

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3 | ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency
OMIM:602485
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:1502186 PMID:2555564 PMID:7553875 PMID:7555485 PMID:8068341 More...

NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995

familial hyperinsulinemic hypoglycemia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hydroxyacyl-CoA dehydrogenase

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency

OMIM
ClinVar
CTD

PMID:904979 PMID:8825408 PMID:11489939 PMID:14693719 PMID:16725361 More...

NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353

G

insulin receptor

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency

PMID:2002058 PMID:2211730 PMID:2983222 PMID:7042734 PMID:8257688 More...

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

familial hyperinsulinemic hypoglycemia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin receptor

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5 | ClinVar Annotator: match by term: Hyperinsulinism due to INSR deficiency
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2002058 PMID:2170418 PMID:2211730 PMID:2983222 PMID:7042734 More...

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

familial hyperinsulinemic hypoglycemia 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutamate dehydrogenase 1

ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9469993 PMID:9536098 PMID:9571225 PMID:9571255 PMID:9843361 More...

NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957

G

shieldin complex subunit 2

ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr16:9,544,940...9,640,323
Ensembl chr16:9,548,660...9,639,965

familial hyperinsulinemic hypoglycemia 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 16 member 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exercise-induced hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 7

OMIM
CTD
ClinVar

PMID:11207177 PMID:17701893 PMID:18414213 PMID:19881260 PMID:25371203 More...

NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611

familial hyperinsulinemic hypoglycemia 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 25 member 36

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 8

PMID:34576089 PMID:34971397 PMID:36695547

NCBI chr 8:97,659,848...97,693,735
Ensembl chr 8:97,662,127...97,693,703

hyperinsulinemic hypoglycemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021
ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy

MouseDO
ClinVar

PMID:1021286 PMID:2198959 PMID:7716548 PMID:8650576 PMID:8751851 More...

NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510

G

glucokinase

OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021

NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995

G

hydroxyacyl-CoA dehydrogenase

ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy

PMID:8825408 PMID:16725361 PMID:19417036 PMID:21347589 PMID:23275527 More...

NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353

G

potassium inwardly-rectifying channel, subfamily J, member 11

ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia

PMID:9867219 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 More...

NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082

Insulin Resistance

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acetyl-CoA carboxylase alpha

treatment

RGD

PMID:16485039 PMID:26394137

RGD:1625727, RGD:329955565

NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457

G

acetyl-CoA carboxylase beta

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22658938 PMID:16485039 PMID:26394137

RGD:1625727, RGD:329955565

NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655

G

angiotensin I converting enzyme

GAD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

acid phosphatase 1

associated with Obesity

RGD

NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021

G

acyl-CoA synthetase long-chain family member 1

mRNA:decreased expression:subcutaneous adipose tissue

RGD

NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541

G

adiponectin, C1Q and collagen domain containing

treatment

associated with Hypertension
CTD Direct Evidence: therapeutic

CTD
RGD

PMID:18931039 PMID:21484566 PMID:16041833 PMID:21872431 PMID:23089228

RGD:1599150, RGD:8695928, RGD:8695951

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

adiponectin receptor 1

resistance

associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C

RGD

NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241

G

adiponectin receptor 2

treatment

RGD

PMID:30225267 PMID:24797033

RGD:21406435, RGD:25824940

NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355

G

adrenomedullin

CTD Direct Evidence: therapeutic

NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654

G

adenosine A1 receptor

treatment

associated with Obesity

RGD

PMID:11703426 PMID:15220221

RGD:2313807, RGD:1625243

NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801

G

adrenoceptor alpha 1B

susceptibility

PMID:14581480 PMID:14581480

RGD:1625772, RGD:1625772

NCBI chr10:28,255,025...28,373,418
Ensembl chr10:28,255,025...28,312,919

G

adrenoceptor beta 2

DNA:polymorphism: :p.R16G
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19034036 PMID:15699455 PMID:11510954

RGD:1601125, RGD:1598757

NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512

G

adrenoceptor beta 3

no_association

DNA:missense mutation:cds:p.W64R rs4994 (human)
associated with Obesity;DNA:polymorphism: :p.W64R (human)

RGD

PMID:10421225 PMID:17299491 PMID:10582543

RGD:1559326, RGD:2313158, RGD:5684421

NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552

G

angiotensin II receptor, type 2

protein:increased expression:dorsal root ganglion, neuron

RGD

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568

G

alpha-2-HS-glycoprotein

susceptibility

protein:increased expression:plasma

PMID:17011519 PMID:17011519 PMID:16567827

RGD:1625793, RGD:1625793, RGD:1625794

NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999

G

AKT serine/threonine kinase 2

no_association

DNA:SNPs

RGD

NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817

G

aldehyde dehydrogenase 2 family member

treatment

protein:altered expression, altered activity:liver (rat)

RGD

NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521

G

arachidonate 15-lipoxygenase

RGD

NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874

G

ankyrin repeat domain containing 26

RGD

NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968

G

apelin

mRNA:increased expression:subcutaneous adipose tissue

RGD

NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391

G

apolipoprotein A2

RGD

NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355

G

apolipoprotein C1

associated with Diabetes Mellitus, Non-Insulin-Dependent

RGD

NCBI chr 1:79,347,057...79,350,340
Ensembl chr 1:79,346,136...79,350,375

G

apolipoprotein C3

susceptibility
treatment

RGD

PMID:15734841 PMID:15007394

RGD:1601226, RGD:1580750

NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583

G

androgen receptor

associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21444647 PMID:17332526 PMID:16793958

RGD:1601244, RGD:2306773

NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925

G

arginase 1

protein:decreased activity:liver (rat)

RGD

NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422

G

arsenite methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:245,595,939...245,628,921
Ensembl chr 1:245,596,108...245,627,872

G

ATM serine/threonine kinase

treatment

protein:decreased expression:muscle:
Associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNP:intron: (rs11212617) (human)

RGD

PMID:18534819 PMID:23171036

RGD:8693659, RGD:126781688

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

ATPase Na+/K+ transporting subunit alpha 2

mRNA:increased expression:skeletal muscle

RGD

NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544

G

BCL2-associated agonist of cell death

protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart

RGD

NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823

G

butyrylcholinesterase

RGD

NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148

G

bradykinin receptor B1

RGD

PMID:17618300 PMID:17988733

RGD:5129217, RGD:5129214

NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747

G

BSCL2 lipid droplet biogenesis associated, seipin

RGD

NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421

G

BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo

RGD

G

complement C1r

protein:increased expression:adipocyte

RGD

NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484

G

complement C3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

calpain 10

DNA:SNP:intron:rs3792267 (human)

RGD

NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494

G

caspase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383

G

caspase 3

treatment

RGD

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

caspase 8

RGD

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

G

catalase

associated with Obesity

RGD

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

Cbl proto-oncogene B

RGD

NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839

G

C-C motif chemokine ligand 2

susceptibility

associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:29035695 PMID:18762729 PMID:22983634

RGD:2306985, RGD:8548844

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

CD163 molecule

exacerbates

CTD Direct Evidence: marker/mechanism
associated with hepatitis C, human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human)

CTD
RGD

PMID:29035695 PMID:26554542

NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878

G

CD36 molecule

associated with Diabetes Mellitus, Type 2
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:14640889 PMID:15231693 PMID:11175782 PMID:12923231 PMID:25477422

RGD:2307217, RGD:68930, RGD:11040926, RGD:11041132

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CD40 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

Cd68 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697

G

ceramide synthase 1

ameliorates

RGD

NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519

G

cannabinoid receptor 1

associated with Obesity

RGD

NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099

G

ciliary neurotrophic factor

possible therapeutic agent

RGD

NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877

G

coenzyme Q2, polyprenyltransferase

associated with obesity

RGD

NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891

G

carboxypeptidase B2

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma

RGD

NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556

G

carboxypeptidase E

CTD Direct Evidence: marker/mechanism

NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233

G

cystatin C

associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human)

RGD

NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822

G

cardiotrophin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335

G

cytochrome P450, family 2, subfamily r, polypeptide 1

DNA:SNP:CDS: rs12794714|rs10766197 (human)

RGD

NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759

G

diacylglycerol O-acyltransferase 2

treatment

RGD

NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428

G

iodothyronine deiodinase 2

DNA:SNP: :rs225014, p.T92A (human)

RGD

NCBI chr 6:109,665,523...109,679,809
Ensembl chr 6:109,665,523...109,679,809

G

dopamine receptor D1

associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule

RGD

NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002

G

enoyl-CoA hydratase 1

treatment

RGD

NCBI chr 1:84,114,494...84,120,788
Ensembl chr 1:84,112,751...84,120,795

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

DNA:polymorphism:K121Q
ClinVar Annotator: match by term: Insulin resistance, susceptibility to

PMID:10480624 PMID:11739459 PMID:14671192 PMID:14988267 PMID:15001634 More...

NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715

G

coagulation factor VII

severity

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)

RGD

NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610

G

fatty acid binding protein 2

no_association

DNA:SNP:CDS:p.A54T (human)
DNA:polymorphism:CDS:amino acid A54T, in healthy, moderately overweight subjects in Baton Rouge
DNA:polymorphism:CDS:p.A54T (human)
ClinVar Annotator: match by term: FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF

PMID:7883976 PMID:9253345 PMID:10946885 PMID:10999802 PMID:12161503 More...

RGD:1300314, RGD:1578456, RGD:1626400, RGD:1626407

NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089

G

fatty acid binding protein 3

severity

RGD

NCBI chr 5:142,651,962...142,658,707
Ensembl chr 5:142,651,956...142,658,718

G

fatty acid binding protein 4

RGD

NCBI chr 2:91,580,879...91,585,567
Ensembl chr 2:91,580,885...91,585,578

G

FA complementation group A

RGD

NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527

G

FA complementation group C

RGD

NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376

G

Fas cell surface death receptor

treatment

associated with hypothalamic disease

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

fatty acid synthase

treatment

RGD

NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261

G

fibroblast growth factor 19

CTD Direct Evidence: marker/mechanism

NCBI chr 1:200,056,526...200,060,980
Ensembl chr 1:200,056,644...200,060,287

G

fission, mitochondrial 1

protein:increased expression:liver (rat)

RGD

NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377

G

forkhead box C2

DNA:polymorphism:5'ut:-512C>T

RGD

NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737

G

forkhead box O1

mRNA:increased expression:adipose tissue:

RGD

NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790

G

FTO, alpha-ketoglutarate dependent dioxygenase

associated with diabetes mellitus;DNA:SNP: :rs9939609 (human)
associated with obesity;DNA:SNP:intron:rs17817449 (human)
DNA:SNPs, haplotype: :rs1121980, rs1558902, rs9939609 (human)
mRNA, protein:increased expression:liver

RGD

PMID:30273662 PMID:21919686 PMID:20075932 PMID:35945320

RGD:329812018, RGD:329812040, RGD:329853775, RGD:329951016

NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

frataxin

DNA:repeats:intron:GAA (human)

RGD

NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540

G

glucose-6-phosphate dehydrogenase

associated with Obesity;protein:increased expression:pancreas

RGD

NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801

G

glucokinase

protein:increased expression:pancreatic islet

RGD

NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995

G

glutamine fructose-6-phosphate transaminase 1

RGD

NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471

G

growth hormone 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078

G

GNAS complex locus

CTD Direct Evidence: marker/mechanism

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

G

G protein subunit beta 3

DNA:polymorphism: :825C>T (human)

RGD

NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173

G

glycerol-3-phosphate acyltransferase, mitochondrial

treatment

RGD

NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639

G

G protein-coupled receptor 17

CTD Direct Evidence: marker/mechanism

NCBI chr18:23,576,232...23,583,153
Ensembl chr18:23,577,242...23,582,966

G

glutathione peroxidase 3

CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma

CTD
RGD

PMID:19270708 PMID:24361363

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

G protein-coupled receptor kinase 2

RGD

NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582

G

glutathione S-transferase alpha 4

mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human)

RGD

NCBI chr 8:79,066,967...79,084,193
Ensembl chr 8:79,066,934...79,084,182

G

glycogen synthase 1

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human)

RGD

NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292

G

hepcidin antimicrobial peptide

mRNA:decreased expression:liver

RGD

NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891

G

high mobility group AT-hook 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752

G

heme oxygenase 1

CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

PMID:18375438 PMID:19171794 PMID:12941774

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

HNF1 homeobox A

mRNA:decreased expression:adipocyte
ClinVar Annotator: match by term: SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF

PMID:8945470 PMID:9112026 PMID:9287053 PMID:9604876 PMID:10333057 More...

NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104

G

hydroxysteroid 11-beta dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687

G

heat shock protein family D (Hsp60) member 1

RGD

NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662

G

5-hydroxytryptamine receptor 2A

associated with Peripheral Vascular Diseases

RGD

NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928

G

intercellular adhesion molecule 1

associated with Obesity;protein:increased secretion:plasma (human)
protein:increased expression:serum

RGD

PMID:11782876 PMID:19394054

RGD:1625753, RGD:2313467

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

insulin-like growth factor 2 mRNA binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:78,874,402...78,974,392
Ensembl chr11:78,874,414...78,974,377

G

insulin-like growth factor binding protein, acid labile subunit

CTD Direct Evidence: marker/mechanism

NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677

G

insulin-like growth factor binding protein 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22537059 PMID:17259371

NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937

G

insulin-like growth factor binding protein 3

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

insulin-like growth factor binding protein 6

human transgene overexpressed in mouse brain

RGD

NCBI chr 7:133,276,309...133,280,944
Ensembl chr 7:133,276,234...133,280,966

G

insulin-like growth factor binding protein 7

protein:increased expression:serum
associated with metabolic dysfunction-associated steatotic liver disease

RGD

PMID:16873698 PMID:31397492

RGD:1626516, RGD:401960873

NCBI chr14:30,737,414...30,797,317
Ensembl chr14:30,737,164...30,797,314

G

inhibitor of nuclear factor kappa B kinase subunit beta

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:29036520 PMID:19073766

NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250

G

interleukin 18

treatment

associated with Graves Disease

RGD

PMID:23257837 PMID:16732281

RGD:8655938, RGD:14695532

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 beta

treatment

associated with Obesity;mRNA:increased expression:adipose tissue
associated with hypothalamic disease

RGD

PMID:16865359 PMID:29522769

RGD:1626632, RGD:13792596

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 6

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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interleukin 6 receptor

protein:decreased expression:serum

RGD

NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536

G

interleukin 7

CTD Direct Evidence: therapeutic

NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075

G

inositol polyphosphate phosphatase-like 1

associated with Metabolic Syndrome X

RGD

PMID:17327370 PMID:12453826

RGD:2312440, RGD:2312442

NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500

G

insulin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536

G

insulin 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11522680 PMID:24648896 PMID:25796170 PMID:33651899 PMID:3322910

NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775

G

insulin receptor

treatment
disease_progression

CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:liver (rat)
ClinVar Annotator: match by term: Insulin resistance | ClinVar Annotator: match by term: Insulin-resistance syndrome type A

CTD
ClinVar
RGD

PMID:1314826 PMID:1644241 PMID:1890161 PMID:1963473 PMID:1971035 More...

RGD:1302523, RGD:10403037, RGD:11529553

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

G

insulin receptor substrate 1

DNA:polymorphism:exon:G972R
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:1311924 PMID:7623569 PMID:8104271 PMID:8647950 PMID:10084586 More...

NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122

G

insulin receptor substrate 2

DNA:polymorphism:exon:G1057D
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:25808216 PMID:15811564

NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482

G

integrin subunit alpha M

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503

G

potassium inwardly-rectifying channel, subfamily J, member 11

CTD Direct Evidence: marker/mechanism

NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082

G

potassium calcium-activated channel subfamily M regulatory beta subunit 1

mRNA, protein:decreased expression:aorta, mesenteric artery

RGD

NCBI chr10:18,557,510...18,614,824
Ensembl chr10:18,557,904...18,565,798

G

KLF transcription factor 11

RGD

NCBI chr 6:41,285,699...41,297,548
Ensembl chr 6:41,285,842...41,297,550

G

KLF transcription factor 14

CTD Direct Evidence: marker/mechanism

NCBI chr 4:59,554,011...59,556,933
Ensembl chr 4:59,554,011...59,556,933

G

kallikrein 1

NCBI chr 1:94,642,644...94,646,760
Ensembl chr 1:94,642,687...94,646,754

G

kallikrein 1-related peptidase C12

RGD

NCBI chr 1:94,378,103...94,382,140
Ensembl chr 1:94,378,054...94,382,176

G

leptin

protein:increased expression:plasma
associated with Obesity
DNA:nonsense mutation:cds:
CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

PMID:10753628 PMID:11342529 PMID:24150608 PMID:29650965 PMID:19296906 More...

RGD:5128697, RGD:2311127, RGD:8549777

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

leptin; ENU induced mutant1, Kyo

RGD

G

leptin receptor

associated with Obesity;DNA:polymorphism: :p.K656N (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K656N (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19452630 PMID:20567778 PMID:25367288 PMID:28611668 PMID:29988851 More...

RGD:2311142, RGD:2311138, RGD:13432147

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

leptin receptor; fa mutant

RGD

G

lipase C, hepatic type

CTD Direct Evidence: marker/mechanism

NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464

G

lamin A/C

ClinVar Annotator: match by term: Insulin-resistance syndrome type A

PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 More...

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

lipin 1

RGD

NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097

G

lipoprotein lipase

RGD

NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249

G

lymphotoxin alpha

no_association

DNA:polymorphism

RGD

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

G

mitogen activated protein kinase 3

treatment

associated with polycystic ovary syndrome

RGD

NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863

G

melanocortin 4 receptor

CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:cds:p.K314X (rat)
mRNA, protein:decreased expression:liver (rat)

CTD
RGD

PMID:18454146 PMID:24400148 PMID:35945320

RGD:13825242, RGD:329951016

NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719

G

melanocortin 4 receptor; ENU induced mutation 1, Hubr

DNA:nonsense mutation:cds:p.K314X

RGD

G

meteorin-like, glial cell differentiation regulator

CTD Direct Evidence: therapeutic

NCBI chr10:106,963,880...106,977,875
Ensembl chr10:106,963,880...106,977,869

G

methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821

G

mitofusin 2

treatment

RGD

NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342

G

macrophage migration inhibitory factor

protein:increased expression:plasma

RGD

NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504

G

microRNA 125a

RGD

NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710

G

microRNA 155

miRNA:increased expression:serum

RGD

PMID:29479888 PMID:27711113

RGD:24922220, RGD:25671464

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

microRNA 222

associated with polycystic ovary syndrome; RNA:increased expression:blood

RGD

NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006

G

MLX interacting protein-like

treatment

RGD

NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112

G

malonyl-CoA decarboxylase

treatment

RGD

NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793

G

mannose receptor, C type 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857

G

nicotinamide phosphoribosyltransferase

associated with Polycystic Ovary Syndrome;protein:increased expression:serum

RGD

NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100

G

nei-like DNA glycosylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258

G

NFE2 like bZIP transcription factor 2

associated with obesity; protein:decreased expression:hepatocyte:
CTD Direct Evidence: therapeutic

CTD
RGD

PMID:33933676 PMID:32102936

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

NLR family, pyrin domain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811

G

nitric oxide synthase 2

mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat)

RGD

PMID:22023455 PMID:21846719

RGD:5509041, RGD:5509075

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nitric oxide synthase 3

treatment

protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

PMID:11457755 PMID:12716763 PMID:12947532 PMID:19008412 PMID:18298918 More...

RGD:2292098, RGD:13450950

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

natriuretic peptide B

associated with Obesity and Hypertension;protein:decreased expression:serum

RGD

NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168

G

nuclear receptor subfamily 1, group H, member 4

susceptibility

RGD

NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047

G

nuclear receptor subfamily 4, group A, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297

G

nuclear receptor subfamily 4, group A, member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733

G

NUS1 dehydrodolichyl diphosphate synthase subunit

CTD Direct Evidence: therapeutic

NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561

G

presenilin associated, rhomboid-like

mRNA:decreased expression:gastrocnemius (rat)

RGD

NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506

G

pancreatic and duodenal homeobox 1

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 chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064

G

phosphoinositide-3-kinase regulatory subunit 1

associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:14714311 PMID:17283057 PMID:10426374 PMID:16332940

RGD:1625211, RGD:1625262, RGD:1625212

NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631

G

pyruvate kinase L/R

treatment

mRNA, protein:decreased expression:liver

RGD

PMID:12958186 PMID:26394137

RGD:1625583, RGD:329955565

NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870

G

phospholipase A2 group IB

susceptibility

RGD

NCBI chr12:41,142,193...41,151,967
Ensembl chr12:41,142,200...41,153,226

G

placenta associated 8

associated with obesity

RGD

NCBI chr14:9,052,601...9,074,264
Ensembl chr14:9,063,048...9,074,264

G

pleckstrin homology domain containing S1

associated with obesity;

RGD

NCBI chr 1:255,495,634...255,525,353
Ensembl chr 1:255,495,634...255,525,353

G

perilipin 2

associated with Obesity

RGD

NCBI chr 5:101,156,648...101,211,738
Ensembl chr 5:101,154,411...101,242,319

G

phospholipid transfer protein

CTD Direct Evidence: marker/mechanism

NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647

G

pro-melanin-concentrating hormone

RGD

NCBI chr 7:22,511,934...22,513,250
Ensembl chr 7:22,511,934...22,513,250

G

paraoxonase 1

DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001)

RGD

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

peroxisome proliferator activated receptor alpha

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:16168052 PMID:21324916 PMID:19322024

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

G

peroxisome proliferator-activated receptor delta

associated with Obesity
associated with Diabetes Mellitus, Non-Insulin-Dependent

RGD

PMID:14676330 PMID:19818749

RGD:2324897, RGD:2313780

NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968

G

peroxisome proliferator-activated receptor gamma

DNA:nonsense mutation
CTD Direct Evidence: therapeutic

CTD
RGD

PMID:16168052 PMID:21354099 PMID:21484566 PMID:12118251

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

PPARG coactivator 1 alpha

treatment

DNA:missense mutation:cds:p.G482S rs8192678 (human)
mRNA:decreased expression:liver (rat)

RGD

PMID:23449621 PMID:22658649 PMID:26394137

RGD:7241821, RGD:7242170, RGD:329955565

NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656

G

PPARG coactivator 1 beta

treatment

RGD

PMID:16896940 PMID:26394137

RGD:1642499, RGD:329955565

NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194

G

protein phosphatase 1, regulatory subunit 3A

DNA:nonsense mutation
DNA:polymorphism:exon:p.D905Y (human)
ClinVar Annotator: match by term: Insulin resistance, susceptibility to

PMID:7581368 PMID:25741868 PMID:12118251 PMID:7581368

RGD:1601446, RGD:1601468

NCBI chr 4:42,937,353...42,980,195
Ensembl chr 4:42,939,599...42,980,638

G

peroxiredoxin 3

associated with obesity;

RGD

NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111

G

protein kinase AMP-activated catalytic subunit alpha 1

associated with Obesity
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19934007 PMID:22231922

NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978

G

protein kinase AMP-activated catalytic subunit alpha 2

susceptibility

DNA:SNPs
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19934007 PMID:16567511

NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543

G

protein kinase cAMP-dependent type I regulatory subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041

G

protein kinase C, beta

RGD

NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536

G

protein kinase C, delta

protein:altered localization:nucleus
associated with Obesity;protein:increased activity:adipocyte

RGD

PMID:12217885 PMID:15507533

RGD:729667, RGD:1642527

NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352

G

protein kinase C, theta

associated with Obesity;protein:decreased expression:skeletal muscle
protein:altered localization:skeletal muscle

RGD

PMID:10923637 PMID:9000691

RGD:1625603, RGD:1625604

NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704

G

protein kinase C, zeta

RGD

NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367

G

protein kinase D1

susceptibility

human gene in a mouse model

RGD

NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042

G

prolactin

associated with Hyperprolactinemia

RGD

NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062

G

protein arginine methyltransferase 7

ClinVar Annotator: match by term: Insulin resistance

PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392

NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577

G

phosphatase and tensin homolog

protein:increased expression, decreased acetylation:liver
CTD Direct Evidence: marker/mechanism
protein:increased activity:liver (human)

CTD
RGD

PMID:18303120 PMID:18385463 PMID:24367090

RGD:2292521, RGD:127285595

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

prostaglandin D2 synthase

susceptibility

RGD

NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833

G

prostaglandin I2 synthase

protein:decreased activity:aorta (rat)

RGD

NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451

G

protein tyrosine kinase 2 beta

associated with Obesity

RGD

NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282

G

protein tyrosine phosphatase, non-receptor type 1

DNA:insertion:3'utr:1484insG
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD Direct Evidence: marker/mechanism
associated with congestive heart failure;protein:increased expression, increased activity:heart (rat)

ClinVar
CTD
RGD

PMID:10744717 PMID:11833006 PMID:11833006 PMID:29929988

RGD:1625240, RGD:401965403

NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504

G

protein tyrosine phosphatase, receptor type, F

mouse model overexpressing human transgene

RGD

PMID:11309481 PMID:9218523

RGD:1642735, RGD:1642733

NCBI chr 5:131,741,959...131,824,000
Ensembl chr 5:131,742,754...131,810,023

G

peptide YY

protein:decreased expression

RGD

NCBI chr10:87,061,155...87,062,278
Ensembl chr10:87,061,161...87,061,815

G

RB transcriptional corepressor 1

mRNA:decreased expression:adipose tissue

RGD

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

retinol binding protein 4

disease_progression
ameliorates

protein:decreased expression:blood serum (human)

RGD

PMID:29747616 PMID:21365528

RGD:329849113, RGD:329853304

NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399

G

RELA proto-oncogene, NF-kB subunit

protein:altered localization:soleus

RGD

PMID:18198644 PMID:18073321

RGD:2298857, RGD:2298860

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

resistin

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16493877 PMID:18789551

NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620

G

RRAD, Ras related glycolysis inhibitor and calcium channel regulator

RGD

NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417

G

stearoyl-CoA desaturase

treatment

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:21661758 PMID:26394137

NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562

G

selenoprotein P

CTD Direct Evidence: marker/mechanism

NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852

G

serpin family A member 1

RGD

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

G

serpin family E member 1

treatment

mRNA:increased expression:white adipose tissue (rat)

RGD

PMID:19776253 PMID:26188590

RGD:8547949, RGD:11073726

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

serpin family F member 1

treatment

associated with Hypertension
human protein in a rat model

RGD

PMID:19073347 PMID:24288442 PMID:22714715

RGD:2312339, RGD:8642993, RGD:8655563

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

SHC adaptor protein 1

mRNA:increased expression:adipose tissue

RGD

NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536

G

sucrase-isomaltase

associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine

RGD

NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260

G

sirtuin 1

treatment

associated with Obesity
CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

PMID:20068143 PMID:21321189 PMID:24442997 PMID:25849131 PMID:26026874 More...

NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260

G

sirtuin 4

RGD

NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439

G

solute carrier family 27 member 1

protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet

RGD

NCBI chr16:18,278,984...18,300,173
Ensembl chr16:18,278,984...18,296,063

G

solute carrier family 27 member 4

mRNA:increased expression:subcutaneous adipose tissue

RGD

NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943

G

solute carrier family 2 member 3

RGD

NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472

G

solute carrier family 2 member 4

associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle
CTD Direct Evidence: therapeutic

CTD
RGD

PMID:11947963 PMID:18778861

NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565

G

suppressor of cytokine signaling 1

associated with Diabetes Mellitus

RGD

NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383

G

suppressor of cytokine signaling 3

susceptibility

associated with Diabetes Mellitus
associated with Obesity

RGD

PMID:15240880 PMID:17295835

RGD:1625677, RGD:2313789

NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787

G

superoxide dismutase 2

CTD Direct Evidence: therapeutic

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

superoxide dismutase 3

associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma

RGD

NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990

G

sorbin and SH3 domain containing 1

susceptibility

RGD

NCBI chr 1:239,107,882...239,330,276
Ensembl chr 1:239,108,777...239,330,169

G

SRY-box transcription factor 6

RGD

NCBI chr 1:169,723,306...170,334,846
Ensembl chr 1:169,729,194...170,277,386

G

sequestosome 1

CTD Direct Evidence: therapeutic

NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673

G

sterol regulatory element binding transcription factor 1

susceptibility
treatment

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP
associated with Fatty Liver;mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22658938 PMID:18692268 PMID:17241878 PMID:26394137

RGD:2308809, RGD:2308807, RGD:329955565

NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650

G

sterol regulatory element binding factor 1, variant 2

associated with Fatty Liver;mRNA:increased expression:liver

RGD

G

sterol regulatory element binding transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848

G

serine/threonine kinase 11

associated with obesity;protein:decreased expression:gastrocnemius

RGD

NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315

G

steroid sulfatase

CTD Direct Evidence: therapeutic

NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402

G

synapsin I

RGD

NCBI chr X:1,172,208...1,227,400
Ensembl chr X:1,172,208...1,227,396

G

TBC1 domain family, member 4

ClinVar Annotator: match by term: Insulin resistance

NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265

G

transcription factor 7 like 2

DNA:SNP (human)

RGD

NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967

G

transferrin

protein:increased expression:plasma

RGD

NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511

G

transcription factor AP-2 beta

RGD

NCBI chr 9:21,786,251...21,816,054
Ensembl chr 9:21,786,258...21,814,520

G

thrombomodulin

associated with Diabetes Mellitus, Non-Insulin-Dependent

RGD

NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193

G

toll-like receptor 4

severity

associated with Obesity
protein:increased expression:skeletal muscle

RGD

PMID:19675137 PMID:18633101 PMID:17426960

RGD:2312483, RGD:2312489, RGD:1620681

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

tumor necrosis factor

treatment

IDA
IEP
ISO
IMP

associated with Obesity
CTD Direct Evidence: marker/mechanism
associated with obesity

CTD
RGD

PMID:16493877 PMID:20943792 PMID:14764603 PMID:25016878 PMID:9832430

RGD:1580214, RGD:10450578, RGD:14995428

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 11B

associated with obesity;protein:increased expression:serum

RGD

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

G

TNF receptor superfamily member 1A

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

tribbles pseudokinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:140,809,634...140,815,230
Ensembl chr 3:140,809,043...140,814,497

G

TSC complex subunit 1

RGD

NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674

G

uncoupling protein 1

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human)

RGD

NCBI chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852

G

uncoupling protein 2

DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human)

RGD

NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611

G

uncoupling protein 3

DNA:polymorphism:promoter:-55C>T (human)

RGD

PMID:17870627 PMID:17571165

RGD:2313512, RGD:2313515

NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762

G

vascular cell adhesion molecule 1

RGD

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

G

vitamin D receptor

RGD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

von Willebrand factor

protein:increased expression:plasma

RGD

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

G

X-box binding protein 1

treatment

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:27325692 PMID:15486293 PMID:26394137

RGD:2326004, RGD:329955565

NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693

G

zinc finger CCCH type containing 10

CTD Direct Evidence: therapeutic

NCBI chr 7:973,415...977,742
Ensembl chr 7:972,855...979,349

Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin receptor

ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1644241 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 More...

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

G

lamin A/C

ClinVar Annotator: match by term: IRAN, TYPE A

PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 More...

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

Metabolic Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 1

susceptibility

DNA:SNP:exon:p.R230C (rs9282541) (human)

RGD

NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170

G

acetyl-CoA carboxylase alpha

ameliorates

mRNA:increased expression:liver (mouse)

RGD

PMID:29684438 PMID:27821167

RGD:329333017, RGD:401799622

NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457

G

acetyl-CoA carboxylase beta

mRNA:increased expression:liver (mouse)

RGD

NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655

G

acyl-CoA dehydrogenase, very long chain

treatment

RGD

NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075

G

acetyl-CoA acetyltransferase 2

susceptibility

DNA:polymorphism

RGD

NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821

G

adiponectin, C1Q and collagen domain containing

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human)
CTD Direct Evidence: marker/mechanism
associated with vascular diseases; protein:decreased expression:plasma
protein:decreased expression:serum

CTD
RGD

PMID:16793964 PMID:17618945 PMID:18162013 PMID:20833989 PMID:19690575 More...

RGD:2313234, RGD:5686800, RGD:5686428, RGD:5686407

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

adrenoceptor beta 2

susceptibility

DNA:polymorphisms: :p.R16G, p.Q27E

RGD
GAD

PMID:14557466 PMID:15118671

RGD:1601127, RGD:1331525

NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512

G

angiotensinogen

mRNA, protein:increased expression:adipose tissue

RGD

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 1a

susceptibility

DNA:snp:3' utr:c.5186A>C

RGD

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

alkaline phosphatase 3, intestine, not Mn requiring

RGD

NCBI chr 9:87,804,680...87,808,715
Ensembl chr 9:87,804,749...87,807,913

G

aldolase, fructose-bisphosphate A

mRNA:increased expression:aorta

RGD

NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182

G

alkaline phosphatase, biomineralization associated

susceptibility

protein:increased expression:serum

RGD

NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446

G

apolipoprotein A1

protein:decreased expression:serum (human)
DNA: polymorphism: :G2, G3 and G5

RGD

PMID:17217166 PMID:21410987

RGD:1601183, RGD:5508220

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein A2

protein:decreased expression:serum

RGD

NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355

G

apolipoprotein A5

susceptibility

DNA:polymorphism: :p.S19W (human)

RGD

NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816

G

apolipoprotein B

protein:increased expression:plasma

RGD

NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497

G

apolipoprotein C3

susceptibility

protein:increased expression:serum (human)
DNA:polymorphism:promoter:-482C>T, -455T>C

RGD

PMID:16298371 PMID:17416293

RGD:2306766, RGD:1601223

NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583

G

apolipoprotein M

protein:decreased expression:plasma

RGD

NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550

G

ATM serine/threonine kinase

RGD

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

ATPase H+/K+ transporting non-gastric alpha2 subunit

RGD

NCBI chr15:30,443,571...30,468,229
Ensembl chr15:30,443,571...30,468,229

G

butyrylcholinesterase

protein:increased expression:serum

RGD

NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148

G

brain-derived neurotrophic factor

RGD

NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615

G

bone gamma-carboxyglutamate protein

protein:decreased expression:serum

RGD

NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495

G

complement C3

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

calpain 10

DNA:polymorphism

RGD

NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494

G

cholecystokinin

RGD

NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

PMID:16188961 PMID:18486454

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 5

protein:increased secretion:plasma (rat)

RGD

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

CD163 molecule

susceptibility

protein:increased expression:blood serum (human)

RGD

NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878

G

CD36 molecule

DNA:SNPs: :multiple (human)

RGD

PMID:18305138 PMID:9916795

RGD:2307208, RGD:619666

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CD40 ligand

protein:increased expression:serum

RGD

PMID:16423632 PMID:20006362

RGD:2314214, RGD:5490591

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

chymotrypsin like elastase 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632

G

checkpoint kinase 2

mRNA:increased expression:heart left ventricle (rat)

RGD

NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286

G

class II, major histocompatibility complex, transactivator

DNA:polymorphism:promoter:-168A>G (human)

RGD

NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440

G

C-reactive protein

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16644639 PMID:21357282

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

cystatin C

protein:increased expression:serum (human)

RGD

NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822

G

cytochrome b-245 alpha chain

RGD

NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721

G

cytochrome P450, family 11, subfamily b, polypeptide 2

susceptibility

DNA:polymorphism:promoter:-344C>T (human)

RGD

NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004

G

cytochrome P450, family 11, subfamily b, polypeptide 3

susceptibility

DNA:polymorphism:promoter:-344C>T (human)

NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048

G

cytochrome P450 family 7 subfamily A member 1

ameliorates

RGD

NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688

G

discoidin domain receptor tyrosine kinase 1

RGD

NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468

G

diacylglycerol O-acyltransferase 1

treatment

RGD

NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299

G

iodothyronine deiodinase 2

DNA:polymorphism: :p.T92A (human)

RGD

NCBI chr 6:109,665,523...109,679,809
Ensembl chr 6:109,665,523...109,679,809

G

epoxide hydrolase 2

RGD

NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615

G

coagulation factor III, tissue factor

associated with Diabetes Mellitus, Non-Insulin-Dependent

RGD

NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668

G

fatty acid binding protein 2

RGD

NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089

G

fatty acid binding protein 4

protein:increased expression:serum

RGD

NCBI chr 2:91,580,879...91,585,567
Ensembl chr 2:91,580,885...91,585,578

G

Fas associated via death domain

protein:increased expression:heart left ventricle

RGD

NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653

G

Fas cell surface death receptor

mRNA:increased expression:liver (rat)

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

fatty acid synthase

ameliorates

mRNA:increased expression:liver (mouse)

RGD

PMID:29684438 PMID:31353547 PMID:27821167

RGD:329333017, RGD:401850595, RGD:401799622

NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261

G

fibroblast growth factor 19

CTD Direct Evidence: marker/mechanism

NCBI chr 1:200,056,526...200,060,980
Ensembl chr 1:200,056,644...200,060,287

G

fibroblast growth factor 21

treatment

RGD

NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454

G

FTO, alpha-ketoglutarate dependent dioxygenase

DNA:SNPs: :rs1421085, rs1558902, rs8050136, rs9939609 (human)
DNA:SNP: :rs9939973 (human)

RGD

PMID:21796137 PMID:32061761

RGD:329853776, RGD:329901771

NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

glucose-6-phosphatase catalytic subunit 1

ameliorates

RGD

NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804

G

glucose-6-phosphate dehydrogenase

treatment

RGD

PMID:19374165 PMID:24868532

RGD:2307350, RGD:10449117

NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801

G

glucagon

ameliorates

RGD

NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929

G

GTP cyclohydrolase 1

treatment

RGD

NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698

G

glucokinase

ameliorates

RGD

NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995

G

glucokinase regulator

RGD

NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654

G

gamma-glutamyltransferase 1

susceptibility

RGD

PMID:17095717 PMID:24847614

RGD:1601300, RGD:14747015

NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442

G

ghrelin and obestatin prepropeptide

DNA:polymorphisms
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
In peritoneal dialysis patients
associated with Kidney Diseases;protein:decreased expression:serum

PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 PMID:25741868 More...

RGD:1625021, RGD:7242555, RGD:2313748

NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621

G

G protein-coupled receptor 17

CTD Direct Evidence: marker/mechanism

NCBI chr18:23,576,232...23,583,153
Ensembl chr18:23,577,242...23,582,966

G

glutathione peroxidase 3

protein:increased expression:serum

RGD

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

gelsolin

severity

RGD

NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402

G

glutathione S-transferase mu 1

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

histone deacetylase 3

RGD

NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856

G

hepatocyte growth factor

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

high mobility group AT-hook 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752

G

3-hydroxy-3-methylglutaryl-CoA reductase

ameliorates

RGD

PMID:19461650 PMID:31353547 PMID:27821167

RGD:5508692, RGD:401850595, RGD:401799622

NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703

G

heme oxygenase 1

treatment

RGD

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

hepatocyte nuclear factor 4, alpha

RGD

NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320

G

haptoglobin

treatment

protein:increased expression

RGD

PMID:17007284 PMID:20508159

RGD:1626341, RGD:11041859

NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523

G

hydroxysteroid 11-beta dehydrogenase 1

disease_progression
susceptibility

mRNA:increased expression:ascending aorta,epicardial fat (human)
DNA:SNP: (rs12086634)T>G (human)
DNA:SNPs:5'utr,enhancer: (rs846910,rs12086634) (human)
DNA:SNP:: (rs846910) (human)

RGD

PMID:14697232 PMID:23007990 PMID:23869418 PMID:21622477 PMID:28750217

RGD:1625074, RGD:329901930, RGD:329901929, RGD:329901919, RGD:329901909

NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687

G

5-hydroxytryptamine receptor 2C

CTD Direct Evidence: marker/mechanism

PMID:17632216 PMID:18515891 PMID:19142101

NCBI chr X:110,640,777...110,870,288
Ensembl chr X:110,641,153...110,870,287

G

intercellular adhesion molecule 1

protein:increased expression:serum

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

isocitrate dehydrogenase (NADP(+)) 2

susceptibility

RGD

NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025

G

insulin-like growth factor 2

DNA:insertion

RGD

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

insulin-like growth factor binding protein 2

RGD

NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937

G

interleukin 18

treatment

protein:increased expression:serum
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16644639 PMID:19717152 PMID:24456735

RGD:4889401, RGD:8655985

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interleukin 6 receptor

susceptibility

DNA:polymorphism: :p.D358A

RGD

NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536

G

inositol polyphosphate phosphatase-like 1

DNA:SNPs: :rs2276047,snp8(human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15220217 PMID:15220217

NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500

G

insulin 2

CTD Direct Evidence: marker/mechanism

PMID:11274935 PMID:16259526

NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775

G

insulin receptor

ameliorates

RGD

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

G

insulin receptor substrate 1

ameliorates

protein:decreased expression:skeletal muscle

RGD

PMID:10842668 PMID:31353547

RGD:6482864, RGD:401850595

NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122

G

insulin receptor substrate 2

ameliorates

RGD

NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482

G

integrin subunit alpha V

RGD

NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639

G

Klotho

mRNA:decreased expression:kidney:

RGD

PMID:11027545 PMID:11027545

RGD:10403056, RGD:10403056

NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080

G

lipopolysaccharide binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586

G

low density lipoprotein receptor

ameliorates

RGD

NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580

G

leptin

CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma (rat)

CTD
RGD

PMID:16793964 PMID:18515891 PMID:19462476 PMID:25380250

RGD:2311125, RGD:10053625

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

leptin receptor

DNA:mutations:cds: : (rat)
DNA:mutations::cds: : (rat)

RGD

PMID:32710530 PMID:10901178 PMID:28746409

RGD:401960103, RGD:401965414, RGD:401965413

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

lipase E, hormone sensitive type

mRNA:increased expression:liver (mouse)

RGD

NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310

G

lipase G, endothelial type

RGD

NCBI chr18:68,514,923...68,536,105
Ensembl chr18:68,514,923...68,536,260

G

lamin A/C

DNA:SNP: :c.138747C>T (human)

RGD

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

LDL receptor related protein 6

DNA:missense mutation:cds

RGD

NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497

G

LDL receptor related protein associated protein 1

susceptibility

associated with Coronary Disease;DNA:SNP:exon

RGD

NCBI chr14:75,651,371...75,663,380
Ensembl chr14:75,651,376...75,665,414

G

mitogen activated protein kinase kinase 2

mRNA:decreased expression:blood, leukocyte (human)

RGD

NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243

G

microRNA 122

miRNA:increased expression:serum

RGD

NCBI chr18:58,758,703...58,758,787

G

MLX interacting protein-like

ameliorates

RGD

NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112

G

myotubularin related protein 9

DNA:SNP: :rs2293855 (human)

RGD

NCBI chr15:37,769,161...37,791,195
Ensembl chr15:37,769,078...37,791,244

G

microsomal triglyceride transfer protein

ClinVar Annotator: match by term: Metabolic syndrome X

PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 More...

NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239

G

nicotinamide phosphoribosyltransferase

protein:increased expression:plasma
DNA:repeats:intron

RGD

PMID:17556870 PMID:15922301

RGD:1642337, RGD:1642345

NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100

G

nei-like DNA glycosylase 1

CTD Direct Evidence: marker/mechanism

PMID:16446448 PMID:17389588

NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258

G

nerve growth factor

RGD

NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452

G

nicotinamide N-methyltransferase

mRNA,protein:increased expression,increased activity:adipose tissue (rat)

RGD

NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655

G

nitric oxide synthase 3

treatment

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to

CTD
ClinVar
RGD

PMID:12947532 PMID:15269839 PMID:20876122 PMID:28361419 PMID:28967023 More...

RGD:13461762, RGD:13450928

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

NADPH oxidase 1

protein:increased expression, increased activity:peripheral blood mononuclear cell (human)

RGD

NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236

G

nuclear receptor subfamily 1, group H, member 3

ameliorates

RGD

NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722

G

nuclear receptor subfamily 1, group I, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658

G

nuclear receptor subfamily 1, group I, member 3

CTD Direct Evidence: marker/mechanism

NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906

G

phosphoenolpyruvate carboxykinase 1

ameliorates

RGD

NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191

G

proprotein convertase subtilisin/kexin type 9

ameliorates

RGD

NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688

G

phosphodiesterase 9A

treatment

RGD

NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948

G

phospholipase A2 group IVA

mRNA:decreased expression:liver

RGD

NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266

G

phospholipase A2 group VI

mRNA:decreased expression:liver

RGD

NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114

G

phospholipase A2 group VII

mRNA:increased expression:liver

RGD

NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476

G

plasminogen activator, tissue type

protein:increased expression:serum

RGD

NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21573798 PMID:14602783

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

peroxisome proliferator activated receptor alpha

ameliorates

mRNA:decreased expression:liver (rat)

RGD

PMID:11934685 PMID:31353547

RGD:628329, RGD:401850595

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

G

peroxisome proliferator-activated receptor gamma

no_association
ameliorates

DNA:SNP: :p.P12A (human)

RGD

PMID:18959602 PMID:31353547 PMID:16186413 PMID:16183630

RGD:2301843, RGD:401850595, RGD:1580686, RGD:1580683

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

PPARG coactivator 1 alpha

mRNA:decreased expression:gastrocnemius muscle (rat)

RGD

NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656

G

protein kinase AMP-activated catalytic subunit alpha 2

ameliorates

RGD

NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543

G

prolactin

RGD

NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062

G

prostaglandin-endoperoxide synthase 2

protein:increased expression:liver

RGD

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

retinol binding protein 4

disease_progression

protein:increased expression:blood serum (human)
associated with obstructive sleep apnea;protein:increased expression:blood plasma (human)

RGD

PMID:19339013 PMID:19003725

RGD:329845591, RGD:329853307

NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399

G

regenerating family member 1 alpha

treatment

RGD

NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570

G

resistin

DNA:SNP:promoter:-420G>C (rs1862513) (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18328350 PMID:17598818

NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620

G

stearoyl-CoA desaturase

ameliorates

RGD

PMID:27821167 PMID:31353547

RGD:401799622, RGD:401850595

NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562

G

secretogranin III

DNA:SNP: :rs3764220 (human)

RGD

NCBI chr 8:76,399,777...76,442,015
Ensembl chr 8:76,399,777...76,442,015

G

selectin P

RGD

NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845

G

serpin family A member 12

treatment

human protein in a mouse model

RGD

NCBI chr 6:122,952,552...122,967,271
Ensembl chr 6:122,952,552...122,967,271

G

serpin family E member 1

treatment

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

sex hormone binding globulin

protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16968811 PMID:17992261 PMID:17884445

NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057

G

SIM bHLH transcription factor 1

ClinVar Annotator: match by term: SIM1-associated metabolic syndrome

NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212

G

sirtuin 1

treatment

CTD Direct Evidence: marker/mechanism
protein:decreased expression:hippocampus (rat)

CTD
RGD

PMID:20068143 PMID:21514307 PMID:25356430

RGD:9585758, RGD:10053569

NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260

G

solute carrier family 27 member 1

susceptibility

RGD

NCBI chr16:18,278,984...18,300,173
Ensembl chr16:18,278,984...18,296,063

G

solute carrier family 2 member 1

ameliorates

RGD

NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416

G

solute carrier family 2 member 4

ameliorates

RGD

NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565

G

sterol O-acyltransferase 2

susceptibility

DNA:SNPs

RGD

NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915

G

superoxide dismutase 2

treatment

RGD

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

sterol regulatory element binding transcription factor 1

disease_progression
ameliorates

protein:increased expression:liver (mouse)
mRNA:increased expression:liver (rat)

RGD

PMID:29173234 PMID:31353547 PMID:11934685

RGD:401827867, RGD:401850595, RGD:628329

NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650

G

transferrin

susceptibility

protein:increased expression:serum

RGD

NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511

G

transforming growth factor, beta 1

mRNA:increased expression:left heart ventricle

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

thrombomodulin

associated with Diabetic Nephropathies;protein:increased expression:plasma

RGD

NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193

G

tumor necrosis factor

treatment

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 1A

associated with obesity;protein:increased expression:plasma

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

tribbles pseudokinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:140,809,634...140,815,230
Ensembl chr 3:140,809,043...140,814,497

G

uncoupling protein 2

mRNA:decreased expression:liver (rat)

RGD

NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611

G

uncoupling protein 3

treatment

RGD

NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762

G

vascular cell adhesion molecule 1

RGD

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

G

vascular endothelial growth factor A

protein:increased expression:plasma:

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

von Willebrand factor

protein:increased expression:plasma

RGD

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

Term paths to the root

Path 1
Term	Annotations
disease	21128
syndrome	10833
hyperinsulinism	597
Congenital Hyperinsulinism +	12
Homozygous 11p15-p14 Deletion Syndrome	0
Insulin Resistance +	559
Path 2
Term	Annotations
disease	21128
Developmental Disease	18449
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	18309
genetic disease	18253
inherited metabolic disorder	6214
carbohydrate metabolic disorder	3267
glucose metabolism disease	2071
hyperinsulinism	597
Congenital Hyperinsulinism +	12
Homozygous 11p15-p14 Deletion Syndrome	0
Insulin Resistance +	559

paths to the root