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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:hyperinsulinism
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Accession:DOID:2018 term browser 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.



show annotations for term's descendants           Sort by:
hyperinsulinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 susceptibility ISO ClinVar Annotator: match by term: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive ClinVar
RGD
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
JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO RGD PMID:14742740 RGD:2325255 NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing IEP RGD PMID:16414018 RGD:1599145 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adipor1 adiponectin receptor 1 IEP mRNA:decreased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241
JBrowse link
G Adipor2 adiponectin receptor 2 IEP mRNA:increased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
JBrowse link
G Adm adrenomedullin ISO associated with Obesity;protein:increased expression:plasma RGD PMID:15789277 RGD:1625301 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
JBrowse link
G Adra1b adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480 PMID:14581480 RGD:1625772, RGD:1625772 NCBI chr10:28,255,025...28,373,418
Ensembl chr10:28,255,025...28,312,919
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO associated with Obesity;mRNA:decreased expression:epidydimis, white fat RGD PMID:11014217 RGD:2313165 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
JBrowse link
G Agt angiotensinogen ISO associated with obesity;DNA:polymorphism: :p.M235T RGD PMID:16713443 RGD:1601142 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a IEP RGD PMID:16565309 RGD:1642975 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO RGD PMID:33722691 RGD:243065268 NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086
JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:19883376 RGD:9586446 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP
ISO
mRNA, protein:increased expression:aorta (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:29035695 PMID:17180354 RGD:8549642 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cd163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO DNA:loss of heterozygosity:pancreatic islet RGD PMID:11723059 RGD:2311334 NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Ddc dopa decarboxylase ISO protein:increased expression:pancreatic beta cell (human) RGD PMID:16403819 RGD:5129140 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
JBrowse link
G Fanca FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
JBrowse link
G Fancc FA complementation group C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Foxa2 forkhead box A2 ISO RGD PMID:11445544 RGD:2313243 NCBI chr 3:135,470,123...135,474,326
Ensembl chr 3:135,470,131...135,474,326
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:3019152 NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929
JBrowse link
G Gck glucokinase ISO hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar
RGD
PMID:27269892 PMID:29510678 PMID:30257192 PMID:31197960 PMID:32375122 More... RGD:1601294 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 IEP mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471
JBrowse link
G Gip gastric inhibitory polypeptide IEP protein:decreased expression:plasma (rat) RGD PMID:8059006 RGD:2312550 NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15184668 PMID:18560803 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive ClinVar 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
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19171794 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency | ClinVar Annotator: match by term: Hyperinsulinism, Dominant | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive ClinVar
RGD
PMID:9267996 PMID:9313765 PMID:9449683 PMID:10983627 PMID:15793260 More... RGD:12904698 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
JBrowse link
G Hp haptoglobin ISO protein:increased expression:serum RGD PMID:17598972 RGD:1626335 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Il6 interleukin 6 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) RGD PMID:19375766 RGD:2307250 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:2991050 PMID:3511099 PMID:4019786 PMID:6382002 PMID:36764371 More... RGD:1625121 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Insr insulin receptor ISO 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
JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP protein:increased expression:liver (rat) RGD PMID:25385842 RGD:12903966 NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734900 NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO 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)
ClinVar
RGD
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
JBrowse link
G Lep leptin ISO
IMP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9826672 PMID:22948215 RGD:12904911 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:22948215 RGD:12904911
G Lepr leptin receptor IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:3519326 PMID:15093691 PMID:22949526 PMID:24384915 PMID:25222487 More... RGD:12911216 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh IMP RGD PMID:26537785 RGD:12911216
G Lipc lipase C, hepatic type IDA
ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)
RGD PMID:7047662 PMID:1592086 PMID:11095452 RGD:2308800, RGD:2308794, RGD:2308844 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
JBrowse link
G Lta lymphotoxin alpha ISO associated with Coronary Arteriosclerosis RGD PMID:9726033 RGD:1625034 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Mc4r melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23251400 NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO RGD PMID:16638826 RGD:1641947 NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315
JBrowse link
G Mrc1 mannose receptor, C type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857
JBrowse link
G Mttp microsomal triglyceride transfer protein susceptibility ISO DNA:polymorphism:promoter:-493G>T RGD PMID:11849654 RGD:1625490 NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:19008412 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Npy5r neuropeptide Y receptor Y5 IDA RGD PMID:15187000 RGD:1625494 NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382
JBrowse link
G Parl presenilin associated, rhomboid-like no_association ISO DNA:missense mutation:cds:p.L262V (human) RGD PMID:15729572 PMID:19185381 RGD:12880443, RGD:12880445 NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 IEP associated with Obesity;protein:increased expression:liver RGD PMID:9705027 RGD:2302681 NCBI chr  X:19,508,522...19,562,165
Ensembl chr  X:19,508,546...19,562,182
JBrowse link
G Pklr pyruvate kinase L/R ISO mRNA:increased expression:liver RGD PMID:14766002 RGD:1625581 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
JBrowse link
G Prkcd protein kinase C, delta IEP RGD PMID:8826977 RGD:1625605 NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
JBrowse link
G Prkcq protein kinase C, theta IEP associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus RGD PMID:8826977 RGD:1625605 NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
JBrowse link
G Pten phosphatase and tensin homolog IEP protein:decreased expression:ovary RGD PMID:18421022 RGD:2292519 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO
IEP
CTD Direct Evidence: therapeutic
associated with Carotid Artery Injuries;mRNA, protein:altered expression, altered activity:carotid artery (rat)
CTD
RGD
PMID:28899902 PMID:19011046 RGD:401965418 NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
JBrowse link
G Ptprf protein tyrosine phosphatase, receptor type, F ISO mouse model overexpressing human transgene RGD PMID:11309481 RGD:1642735 NCBI chr 5:131,741,959...131,824,000
Ensembl chr 5:131,742,754...131,810,023
JBrowse link
G Rbp4 retinol binding protein 4 onset ISO associated with coronary artery disease;protein:increased expression:blood serum (human) RGD PMID:25233041 RGD:329845593 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased phosphorylation:liver, skeletal muscle RGD PMID:15692808 RGD:1643026 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
JBrowse link
G Scd stearoyl-CoA desaturase IEP associated with Obesity RGD PMID:16284748 RGD:1580005 NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar NCBI chr16:9,544,940...9,640,323
Ensembl chr16:9,548,660...9,639,965
JBrowse link
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611
JBrowse link
G Slc27a1 solute carrier family 27 member 1 IEP protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle RGD PMID:15281014 RGD:1642794 NCBI chr16:18,278,984...18,300,173
Ensembl chr16:18,278,984...18,296,063
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tsc22d3 TSC22 domain family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22556341 NCBI chr  X:104,217,898...104,277,886
Ensembl chr  X:104,217,925...104,276,861
JBrowse link
G Txnip thioredoxin interacting protein susceptibility ISO DNA:nonsense mutation RGD PMID:15047687 RGD:1642753 NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
JBrowse link
G Ucp2 uncoupling protein 2 ISO ClinVar Annotator: match by term: UCP2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
JBrowse link
abdominal obesity-metabolic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctf1 cardiotrophin 1 ISS MouseDO NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
JBrowse link
G Gucy2c guanylate cyclase 2C ISS MouseDO NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
JBrowse link
G Lep leptin ISS MouseDO NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISS MouseDO NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS MouseDO NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Prkci protein kinase C, iota ISS MouseDO NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352
JBrowse link
G Sirt3 sirtuin 3 ISS MouseDO NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISS MouseDO NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981
JBrowse link
abdominal obesity-metabolic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IDA protein:increased oxidation:cardiac muscle cell RGD PMID:23997093 RGD:13782087 NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Fadd Fas associated via death domain treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
JBrowse link
G Fas Fas cell surface death receptor IEP RGD PMID:30172001 RGD:13792561 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Lep leptin ISS OMIM:605552 MouseDO NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lpl lipoprotein lipase treatment IDA RGD PMID:26996629 RGD:13794382 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1 ClinVar PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 More... NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tp53inp1 tumor protein p53 inducible nuclear protein 1 ISS OMIM:605552 MouseDO NCBI chr 5:24,253,986...24,272,250
Ensembl chr 5:24,260,568...24,267,968
JBrowse link
abdominal obesity-metabolic syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 ClinVar PMID:25741868 PMID:29696776 PMID:33644933 NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO 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:28492532 More... NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
JBrowse link
abdominal obesity-metabolic syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cela2a chymotrypsin like elastase 2A ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 OMIM
ClinVar
PMID:25741868 PMID:31358993 NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
JBrowse link
Congenital Hyperinsulinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO 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
JBrowse link
G Gck glucokinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hyperinsulinism
CTD
ClinVar
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
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO RGD PMID:9571255 RGD:1302513 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO DNA:deletion:cds (human) RGD PMID:14693719 RGD:2306664 NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO DNA:mutations: :
ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar
RGD
PMID:10227563 PMID:10447526 PMID:10983627 PMID:12669197 PMID:15281001 More... RGD:12904701 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hyperinsulinism | 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
JBrowse link
G Kcnt2 potassium sodium-activated channel subfamily T member 2 ISO ClinVar Annotator: match by term: KCNT2-related condition ClinVar PMID:25741868 PMID:29069600 NCBI chr13:51,664,129...52,059,209
Ensembl chr13:51,664,686...52,056,987
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
JBrowse link
familial hyperinsulinemic hypoglycemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Congenital isolated hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 OMIM
ClinVar
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
JBrowse link
G Andpro androgen regulated protein ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,718,601...136,725,131
Ensembl chr 3:136,718,602...136,724,966
JBrowse link
G Banf2 BANF family member 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,387,107...131,442,837
Ensembl chr 3:131,388,130...131,442,832
JBrowse link
G Bfsp1 beaded filament structural protein 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,195,087...131,252,668
Ensembl chr 3:131,195,087...131,229,337
JBrowse link
G Cd93 CD93 molecule ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:135,891,859...135,898,378
Ensembl chr 3:135,891,859...135,898,378
JBrowse link
G Cfap61 cilia and flagella associated protein 61 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:133,354,400...133,633,310
Ensembl chr 3:133,354,197...133,633,320
JBrowse link
G Crnkl1 crooked neck pre-mRNA splicing factor 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:133,338,593...133,354,329
Ensembl chr 3:133,337,039...133,354,302
Ensembl chr 6:133,337,039...133,354,302
JBrowse link
G Cst11 cystatin 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,211,414...136,214,138
Ensembl chr 3:136,211,414...136,214,138
JBrowse link
G Cst3 cystatin C ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
JBrowse link
G Cst5 cystatin D ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:137,573,194...137,577,754
Ensembl chr 3:137,573,194...137,577,754
JBrowse link
G Cst8 cystatin 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,244,586...136,255,412
Ensembl chr 3:136,244,636...136,251,273
JBrowse link
G Cst9l cystatin 9-like ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,288,093...136,290,906
Ensembl chr 3:136,288,093...136,290,906
JBrowse link
G Cstl1 cystatin-like 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,199,914...136,204,912
Ensembl chr 3:136,199,914...136,204,912
JBrowse link
G Dstn destrin, actin depolymerizing factor ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,284,647...131,311,361
Ensembl chr 3:131,284,648...131,311,379
JBrowse link
G Dtd1 D-aminoacyl-tRNA deacylase 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,995,870...132,158,646
Ensembl chr 3:131,995,861...132,158,659
JBrowse link
G Dzank1 double zinc ribbon and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,855,890...131,908,217
Ensembl chr 3:131,852,552...131,908,156
JBrowse link
G Foxa2 forkhead box A2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:135,470,123...135,474,326
Ensembl chr 3:135,470,131...135,474,326
JBrowse link
G Gzf1 GDNF-inducible zinc finger protein 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,119,004...136,131,223
Ensembl chr 3:136,119,113...136,131,223
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar 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
JBrowse link
G Insm1 INSM transcriptional repressor 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:133,640,030...133,642,963
Ensembl chr 3:133,639,580...133,643,003
JBrowse link
G Kat14 lysine acetyltransferase 14 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,736,430...131,781,732
Ensembl chr 3:131,736,549...131,781,706
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar 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
JBrowse link
G Kif16b kinesin family member 16B ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:129,974,692...130,254,194
Ensembl chr 3:129,974,800...130,254,019
JBrowse link
G Kiz kizuna centrosomal protein ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:134,277,631...134,385,260
Ensembl chr 3:134,277,687...134,385,190
JBrowse link
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932
JBrowse link
G Naa20 N(alpha)-acetyltransferase 20, NatB catalytic subunit ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:133,322,036...133,336,843
Ensembl chr 3:133,322,064...133,337,009
JBrowse link
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,132,248...136,179,280
Ensembl chr 3:136,133,428...136,179,345
JBrowse link
G Nkx2-2 NK2 homeobox 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:134,619,701...134,630,282
Ensembl chr 3:134,620,039...134,622,411
JBrowse link
G Nkx2-4 NK2 homeobox 4 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:134,514,368...134,517,243
Ensembl chr 3:134,515,039...134,516,505
JBrowse link
G Nxt1 nuclear transport factor 2-like export factor 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:136,108,975...136,111,897
Ensembl chr 3:136,108,862...136,111,907
JBrowse link
G Otor otoraplin ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:130,415,339...130,418,601
Ensembl chr 3:130,415,339...130,418,601
JBrowse link
G Ovol2 ovo-like zinc finger 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,677,391...131,707,123
Ensembl chr 3:131,677,391...131,708,359
JBrowse link
G Pax1 paired box 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:134,792,330...134,801,637
Ensembl chr 3:134,789,182...134,801,636
JBrowse link
G Pcsk2 proprotein convertase subtilisin/kexin type 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:130,880,422...131,183,127
Ensembl chr 3:130,880,422...131,183,127
JBrowse link
G Pet117 PET117 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124
G Polr3f RNA polymerase III subunit F ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,908,466...131,924,838
Ensembl chr 3:131,908,466...131,924,837
JBrowse link
G Ralgapa2 Ral GTPase activating protein catalytic subunit alpha 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:133,658,725...133,938,821
Ensembl chr 3:133,659,761...133,938,916
JBrowse link
G Rbbp9 RB binding protein 9, serine hydrolase ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,925,095...131,939,042
Ensembl chr 3:131,925,341...131,932,156
JBrowse link
G Rin2 Ras and Rab interactor 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:133,086,858...133,303,604
Ensembl chr 3:133,086,749...133,303,604
JBrowse link
G Rrbp1 ribosome binding protein 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,314,996...131,376,930
Ensembl chr 3:131,314,998...131,376,981
JBrowse link
G Scp2d1 SCP2 sterol-binding domain containing 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:132,201,979...132,202,729
Ensembl chr 3:132,200,744...132,212,725
JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,939,011...131,981,489
Ensembl chr 3:131,939,337...131,981,489
JBrowse link
G Slc24a3 solute carrier family 24 member 3 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:132,552,119...133,051,192
Ensembl chr 3:132,551,595...133,051,192
JBrowse link
G Snrpb2 small nuclear ribonucleoprotein polypeptide B2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:130,399,239...130,408,821
Ensembl chr 3:130,399,248...130,408,812
JBrowse link
G Snx5 sorting nexin 5 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,621,875...131,641,127
Ensembl chr 3:131,621,880...131,641,192
JBrowse link
G Sstr4 somatostatin receptor 4 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:135,854,826...135,856,689
Ensembl chr 3:135,854,826...135,856,689
JBrowse link
G Thbd thrombomodulin ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:134,436,916...134,509,308
Ensembl chr 3:134,437,109...134,509,306
JBrowse link
G Zfp133 zinc finger protein 133 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,829,404...131,847,552
Ensembl chr 3:131,829,404...131,847,550
JBrowse link
familial hyperinsulinemic hypoglycemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 ClinVar PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 ClinVar
OMIM
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
JBrowse link
familial hyperinsulinemic hypoglycemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gck glucokinase ISO
ISS
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
JBrowse link
familial hyperinsulinemic hypoglycemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hadh hydroxyacyl-CoA dehydrogenase ISO 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
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency ClinVar 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
JBrowse link
familial hyperinsulinemic hypoglycemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO 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
JBrowse link
familial hyperinsulinemic hypoglycemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glud1 glutamate dehydrogenase 1 ISO 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
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:9,544,940...9,640,323
Ensembl chr16:9,548,660...9,639,965
JBrowse link
familial hyperinsulinemic hypoglycemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a1 solute carrier family 16 member 1 ISO 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
JBrowse link
familial hyperinsulinemic hypoglycemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a36 solute carrier family 25 member 36 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 8 OMIM
ClinVar
PMID:34576089 PMID:34971397 PMID:36695547 NCBI chr 8:97,659,848...97,693,735
Ensembl chr 8:97,662,127...97,693,703
JBrowse link
hyperinsulinemic hypoglycemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISS
ISO
OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021
ClinVar Annotator: match by term: 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
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
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
JBrowse link
G Gck glucokinase ISS OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 MouseDO NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO 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
ClinVar 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
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia ClinVar 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
JBrowse link
Insulin Resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha treatment IDA
IEP
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
JBrowse link
G Acacb acetyl-CoA carboxylase beta treatment IDA
ISO
IEP
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
JBrowse link
G Ace angiotensin I converting enzyme ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Acp1 acid phosphatase 1 ISO associated with Obesity RGD PMID:17353188 RGD:2313180 NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:16788709 RGD:1625735 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment IEP
ISO
associated with Hypertension
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:18931039 PMID:21484566 PMID:16041833 PMID:21872431 PMID:23089228 RGD:1599150, RGD:8695928, RGD:8695951 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adipor1 adiponectin receptor 1 resistance ISO associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C RGD PMID:17285539 RGD:1625762 NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241
JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP 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
JBrowse link
G Adm adrenomedullin ISO CTD Direct Evidence: therapeutic CTD PMID:33491863 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
JBrowse link
G Adora1 adenosine A1 receptor treatment ISO
IDA
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
JBrowse link
G Adra1b adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480 PMID:14581480 RGD:1625772, RGD:1625772 NCBI chr10:28,255,025...28,373,418
Ensembl chr10:28,255,025...28,312,919
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO
IDA
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
JBrowse link
G Adrb3 adrenoceptor beta 3 no_association ISO DNA:missense mutation:cds:p.W64R rs4994 (human)
associated with Obesity;DNA:polymorphism: :p.W64R (human)
RGD PMID:10421225 PMID: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
JBrowse link
G Agtr2 angiotensin II receptor, type 2 IEP protein:increased expression:dorsal root ganglion, neuron RGD PMID:22357959 RGD:6903873 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25734695 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Ahsg alpha-2-HS-glycoprotein susceptibility ISO protein:increased expression:plasma RGD PMID:17011519 PMID:17011519 PMID:16567827 RGD:1625793, RGD:1625793, RGD:1625794 NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999
JBrowse link
G Akt2 AKT serine/threonine kinase 2 no_association ISO DNA:SNPs RGD PMID:17327441 RGD:1601155 NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member treatment IEP protein:altered expression, altered activity:liver (rat) RGD PMID:28688179 RGD:14981582 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:19787041 RGD:5509625 NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
JBrowse link
G Ankrd26 ankyrin repeat domain containing 26 ISO RGD PMID:18162531 RGD:9681744 NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968
JBrowse link
G Apln apelin IEP mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391
JBrowse link
G Apoa2 apolipoprotein A2 ISO RGD PMID:11246886 RGD:2313957 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
JBrowse link
G Apoc1 apolipoprotein C1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11723061 RGD:2313951 NCBI chr 1:79,347,057...79,350,340
Ensembl chr 1:79,346,136...79,350,375
JBrowse link
G Apoc3 apolipoprotein C3 susceptibility
treatment
ISO
IEP
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
JBrowse link
G Ar androgen receptor ISO associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21444647 PMID:17332526 PMID:16793958 RGD:1601244, RGD:2306773 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Arg1 arginase 1 IEP protein:decreased activity:liver (rat) RGD PMID:20593143 RGD:4142796 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
JBrowse link
G As3mt arsenite methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35226250 NCBI chr 1:245,595,939...245,628,921
Ensembl chr 1:245,596,108...245,627,872
JBrowse link
G Atm ATM serine/threonine kinase treatment IEP
ISO
protein:decreased expression:muscle:
Associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNP:intron: (rs11212617) (human)
RGD PMID:18534819 PMID:23171036 RGD:8693659, RGD:126781688 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO mRNA:increased expression:skeletal muscle RGD PMID:14576983 RGD:1601252 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
G Bad BCL2-associated agonist of cell death IDA protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart RGD PMID:21385329 RGD:10053645 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:17917325 RGD:2306776 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Bdkrb1 bradykinin receptor B1 IMP
IEP
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
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin IMP RGD PMID:25934999 RGD:11085488 NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Bscl2m1Kyo BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo IMP RGD PMID:25934999 RGD:11085488
G C1r complement C1r ISO protein:increased expression:adipocyte RGD PMID:17244723 RGD:1600551 NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18615583 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Capn10 calpain 10 ISO DNA:SNP:intron:rs3792267 (human) RGD PMID:11018080 RGD:7247736 NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22325453 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:29748970 RGD:13782289 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp8 caspase 8 IEP RGD PMID:29748970 RGD:13782289 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Cat catalase ISO associated with Obesity RGD PMID:19188683 RGD:5130761 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cblb Cbl proto-oncogene B ISO RGD PMID:17601987 RGD:2314038 NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human)
CTD Direct Evidence: marker/mechanism
CTD
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
JBrowse link
G Cd163 CD163 molecule exacerbates ISO CTD Direct Evidence: marker/mechanism
associated with hepatitis C, human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human)
CTD
RGD
PMID:29035695 PMID:26554542 RGD:149735574 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Cd36 CD36 molecule ISO
IMP
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
JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
JBrowse link
G Cers1 ceramide synthase 1 ameliorates ISO RGD PMID:30605666 RGD:156431060 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
JBrowse link
G Cnr1 cannabinoid receptor 1 IMP associated with Obesity RGD PMID:19553924 RGD:2314662 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
JBrowse link
G Cntf ciliary neurotrophic factor TAS possible therapeutic agent RGD PMID:16675997 RGD:1626122 NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877
JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase IEP associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
JBrowse link
G Cpb2 carboxypeptidase B2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma RGD PMID:11836301 RGD:2313645 NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
JBrowse link
G Cpe carboxypeptidase E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15358678 NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233
JBrowse link
G Cst3 cystatin C ISO associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) RGD PMID:19765773 RGD:2314305 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO DNA:SNP:CDS: rs12794714|rs10766197 (human) RGD PMID:34906413 RGD:401900724 NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
JBrowse link
G Dio2 iodothyronine deiodinase 2 ISO DNA:SNP: :rs225014, p.T92A (human) RGD PMID:11872697 RGD:2313698 NCBI chr 6:109,665,523...109,679,809
Ensembl chr 6:109,665,523...109,679,809
JBrowse link
G Drd1 dopamine receptor D1 IEP associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule RGD PMID:15798088 RGD:2302119 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
JBrowse link
G Ech1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chr 1:84,114,494...84,120,788
Ensembl chr 1:84,112,751...84,120,795
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22238402 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO DNA:polymorphism:K121Q
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
ClinVar
RGD
PMID:10480624 PMID:11739459 PMID:14671192 PMID:14988267 PMID:15001634 More... RGD:1601043 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
JBrowse link
G F7 coagulation factor VII severity ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:9187410 RGD:2312406 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
G Fabp2 fatty acid binding protein 2 no_association ISO 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
ClinVar
RGD
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
JBrowse link
G Fabp3 fatty acid binding protein 3 severity ISO RGD PMID:16249436 RGD:1578459 NCBI chr 5:142,651,962...142,658,707
Ensembl chr 5:142,651,956...142,658,718
JBrowse link
G Fabp4 fatty acid binding protein 4 IEP RGD PMID:17391165 RGD:1625407 NCBI chr 2:91,580,879...91,585,567
Ensembl chr 2:91,580,885...91,585,578
JBrowse link
G Fanca FA complementation group A ISO RGD PMID:22482891 RGD:11046266 NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
JBrowse link
G Fancc FA complementation group C ISO RGD PMID:22482891 RGD:11046266 NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
JBrowse link
G Fas Fas cell surface death receptor treatment IEP associated with hypothalamic disease RGD PMID:29522769 RGD:13792596 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fasn fatty acid synthase treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
JBrowse link
G Fgf19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr 1:200,056,526...200,060,980
Ensembl chr 1:200,056,644...200,060,287
JBrowse link
G Fis1 fission, mitochondrial 1 IEP protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377
JBrowse link
G Foxc2 forkhead box C2 ISO DNA:polymorphism:5'ut:-512C>T RGD PMID:12453913 RGD:1601219 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
JBrowse link
G Foxo1 forkhead box O1 IEP mRNA:increased expression:adipose tissue: RGD PMID:16041833 RGD:1599150 NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO
IEP
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
JBrowse link
G Fxn frataxin ISO DNA:repeats:intron:GAA (human) RGD PMID:10969848 RGD:2307049 NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP associated with Obesity;protein:increased expression:pancreas RGD PMID:23015612 RGD:10449129 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gck glucokinase IEP protein:increased expression:pancreatic islet RGD PMID:19039094 RGD:7488970 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471
JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559284 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:17062894 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
JBrowse link
G Gnb3 G protein subunit beta 3 ISO DNA:polymorphism: :825C>T (human) RGD PMID:12624279 RGD:1580411 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639
JBrowse link
G Gpr17 G protein-coupled receptor 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34144038 NCBI chr18:23,576,232...23,583,153
Ensembl chr18:23,577,242...23,582,966
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
CTD
RGD
PMID:19270708 PMID:24361363 RGD:401827920 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO RGD PMID:15994203 RGD:1625791 NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
JBrowse link
G Gsta4 glutathione S-transferase alpha 4 ISO mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human) RGD PMID:20150287 RGD:5687771 NCBI chr 8:79,066,967...79,084,193
Ensembl chr 8:79,066,934...79,084,182
JBrowse link
G Gys1 glycogen synthase 1 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human) RGD PMID:9267990 RGD:2313176 NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:decreased expression:liver RGD PMID:17350134 RGD:1601515 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:18375438 PMID:19171794 PMID:12941774 RGD:1601621 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hnf1a HNF1 homeobox A ISO mRNA:decreased expression:adipocyte
ClinVar Annotator: match by term: SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF
ClinVar
RGD
PMID:8945470 PMID:9112026 PMID:9287053 PMID:9604876 PMID:10333057 More... RGD:1601482 NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21786805 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IEP RGD PMID:18948349 RGD:10402862 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO associated with Peripheral Vascular Diseases RGD PMID:17062970 RGD:1624367 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO associated with Obesity;protein:increased secretion:plasma (human)
protein:increased expression:serum
RGD PMID:11782876 PMID:19394054 RGD:1625753, RGD:2313467 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35226250 NCBI chr11:78,874,402...78,974,392
Ensembl chr11:78,874,414...78,974,377
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17726072 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22537059 PMID:17259371 RGD:1626479 NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:17237715 RGD:2313762 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Igfbp6 insulin-like growth factor binding protein 6 ISO human transgene overexpressed in mouse brain RGD PMID:15889232 RGD:2301717 NCBI chr 7:133,276,309...133,280,944
Ensembl chr 7:133,276,234...133,280,966
JBrowse link
G Igfbp7 insulin-like growth factor binding protein 7 ISO 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
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29036520 PMID:19073766 RGD:7495768 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
JBrowse link
G Il18 interleukin 18 treatment ISO 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
JBrowse link
G Il1b interleukin 1 beta treatment ISO
IEP
associated with Obesity;mRNA:increased expression:adipose tissue
associated with hypothalamic disease
RGD PMID:16865359 PMID:29522769 RGD:1626632, RGD:13792596 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il6 interleukin 6 IDA
IEP
associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat)
mRNA:increased expression:islet of Langerhans
RGD PMID:19328014 PMID:21826222 RGD:2307252, RGD:10402828 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Il6r interleukin 6 receptor ISO protein:decreased expression:serum RGD PMID:14962155 RGD:1625431 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: therapeutic CTD PMID:20376352 NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 IMP 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
JBrowse link
G Ins1 insulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19586609 NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11522680 PMID:24648896 PMID:25796170 PMID:33651899 PMID:3322910 RGD:2311112 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Insr insulin receptor treatment
disease_progression
ISO
IEP
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
JBrowse link
G Irs1 insulin receptor substrate 1 ISO DNA:polymorphism:exon:G972R
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1311924 PMID:7623569 PMID:8104271 PMID:8647950 PMID:10084586 More... RGD:1624973 NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
JBrowse link
G Irs2 insulin receptor substrate 2 ISO DNA:polymorphism:exon:G1057D
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25808216 PMID:15811564 RGD:1625025 NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032110 NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
G Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 IEP mRNA, protein:decreased expression:aorta, mesenteric artery RGD PMID:21425425 RGD:10412047 NCBI chr10:18,557,510...18,614,824
Ensembl chr10:18,557,904...18,565,798
JBrowse link
G Klf11 KLF transcription factor 11 ISO RGD PMID:18505768 RGD:2311539 NCBI chr 6:41,285,699...41,297,548
Ensembl chr 6:41,285,842...41,297,550
JBrowse link
G Klf14 KLF transcription factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29632379 NCBI chr 4:59,554,011...59,556,933
Ensembl chr 4:59,554,011...59,556,933
JBrowse link
G Klk1 kallikrein 1 ISO RGD PMID:17272402 RGD:1641794 NCBI chr 1:94,642,644...94,646,760
Ensembl chr 1:94,642,687...94,646,754
JBrowse link
G Klk1c12 kallikrein 1-related peptidase C12 ISO RGD PMID:17272402 RGD:1641794 NCBI chr 1:94,378,103...94,382,140
Ensembl chr 1:94,378,054...94,382,176
JBrowse link
G Lep leptin IEP
ISO
IMP
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
JBrowse link
G Lepm1Kyo leptin; ENU induced mutant1, Kyo IMP RGD PMID:23800849 RGD:8549777
G Lepr leptin receptor ISO
IAGP
associated with Obesity;DNA:polymorphism: :p.K656N (human)
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
JBrowse link
G Leprfa leptin receptor; fa mutant IAGP RGD PMID:23154293 RGD:13432147
G Lipc lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:15504970 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Insulin-resistance syndrome type A ClinVar PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Lpin1 lipin 1 ISO RGD PMID:17563064 RGD:1641822 NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097
JBrowse link
G Lpl lipoprotein lipase ISO RGD PMID:18952837 RGD:2313300 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Lta lymphotoxin alpha no_association ISO DNA:polymorphism RGD PMID:9245742 RGD:1625035 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Mapk3 mitogen activated protein kinase 3 treatment IDA associated with polycystic ovary syndrome RGD PMID:23349861 RGD:13800789 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G Mc4r melanocortin 4 receptor ISO
IMP
IEP
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
JBrowse link
G Mc4rm1Hubr melanocortin 4 receptor; ENU induced mutation 1, Hubr IMP DNA:nonsense mutation:cds:p.K314X RGD PMID:24400148 RGD:13825242
G Metrnl meteorin-like, glial cell differentiation regulator ISO CTD Direct Evidence: therapeutic CTD PMID:30213948 NCBI chr10:106,963,880...106,977,875
Ensembl chr10:106,963,880...106,977,869
JBrowse link
G Mettl14 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35226250 NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821
JBrowse link
G Mfn2 mitofusin 2 treatment IEP RGD PMID:24715199 RGD:13204838 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mif macrophage migration inhibitory factor ISO protein:increased expression:plasma RGD PMID:12552367 RGD:1641955 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Mir125a microRNA 125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
JBrowse link
G Mir155 microRNA 155 ISO 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
JBrowse link
G Mir222 microRNA 222 ISO associated with polycystic ovary syndrome; RNA:increased expression:blood RGD PMID:33230470 RGD:151893462 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006
JBrowse link
G Mlxipl MLX interacting protein-like treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
JBrowse link
G Mlycd malonyl-CoA decarboxylase treatment IEP RGD PMID:26394137 RGD:329955565 NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
JBrowse link
G Mrc1 mannose receptor, C type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO associated with Polycystic Ovary Syndrome;protein:increased expression:serum RGD PMID:17582143 RGD:1642341 NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO associated with obesity; protein:decreased expression:hepatocyte:
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:33933676 PMID:32102936 RGD:21201281 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35226250 NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
JBrowse link
G Nos2 nitric oxide synthase 2 IEP
ISO
mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat) RGD PMID:22023455 PMID:21846719 RGD:5509041, RGD:5509075 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP
ISO
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
JBrowse link
G Nppb natriuretic peptide B ISO associated with Obesity and Hypertension;protein:decreased expression:serum RGD PMID:17392814 RGD:1642192 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 susceptibility ISO RGD PMID:16557297 RGD:1625076 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
JBrowse link
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733
JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO CTD Direct Evidence: therapeutic CTD PMID:33812996 NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
JBrowse link
G Parl presenilin associated, rhomboid-like IEP mRNA:decreased expression:gastrocnemius (rat) RGD PMID:19859837 RGD:12880442 NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO
IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:pancreatic islet (mouse)
protein:increased expression:pancreatic duct (rat)
RGD PMID:18288891 PMID:16046294 RGD:2311222, RGD:2311223 NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO
IDA
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
JBrowse link
G Pklr pyruvate kinase L/R treatment ISO
IEP
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
JBrowse link
G Pla2g1b phospholipase A2 group IB susceptibility ISO RGD PMID:12376327 RGD:1302550 NCBI chr12:41,142,193...41,151,967
Ensembl chr12:41,142,200...41,153,226
JBrowse link
G Plac8 placenta associated 8 IEP associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr14:9,052,601...9,074,264
Ensembl chr14:9,063,048...9,074,264
JBrowse link
G Plekhs1 pleckstrin homology domain containing S1 IEP associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr 1:255,495,634...255,525,353
Ensembl chr 1:255,495,634...255,525,353
JBrowse link
G Plin2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 5:101,156,648...101,211,738
Ensembl chr 5:101,154,411...101,242,319
JBrowse link
G Pltp phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647
JBrowse link
G Pmch pro-melanin-concentrating hormone IDA RGD PMID:16002548 RGD:1642484 NCBI chr 7:22,511,934...22,513,250
Ensembl chr 7:22,511,934...22,513,250
JBrowse link
G Pon1 paraoxonase 1 ISO DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001) RGD PMID:11788650 RGD:1642617 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:16168052 PMID:21324916 PMID:19322024 RGD:5683642 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO associated with Obesity
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD PMID:14676330 PMID:19818749 RGD:2324897, RGD:2313780 NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO DNA:nonsense mutation
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:16168052 PMID:21354099 PMID:21484566 PMID:12118251 RGD:1601446 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment ISO
IEP
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
JBrowse link
G Ppargc1b PPARG coactivator 1 beta treatment ISO
IEP
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
JBrowse link
G Ppp1r3a protein phosphatase 1, regulatory subunit 3A ISO DNA:nonsense mutation
DNA:polymorphism:exon:p.D905Y (human)
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
ClinVar
RGD
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
JBrowse link
G Prdx3 peroxiredoxin 3 IEP associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 IDA
ISO
associated with Obesity
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19934007 PMID:22231922 RGD:6484545 NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 susceptibility ISO DNA:SNPs
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19934007 PMID:16567511 RGD:1625266 NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
JBrowse link
G Prkcb protein kinase C, beta IDA RGD PMID:12665248 RGD:1625515 NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
JBrowse link
G Prkcd protein kinase C, delta IEP
ISO
protein:altered localization:nucleus
associated with Obesity;protein:increased activity:adipocyte
RGD PMID:12217885 PMID:15507533 RGD:729667, RGD:1642527 NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
JBrowse link
G Prkcq protein kinase C, theta IEP associated with Obesity;protein:decreased expression:skeletal muscle
protein:altered localization:skeletal muscle
RGD PMID:10923637 PMID:9000691 RGD:1625603, RGD:1625604 NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
JBrowse link
G Prkcz protein kinase C, zeta ISO RGD PMID:12882908 RGD:1642650 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
JBrowse link
G Prkd1 protein kinase D1 susceptibility ISO human gene in a mouse model RGD PMID:25173922 RGD:307436943 NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
JBrowse link
G Prl prolactin ISO associated with Hyperprolactinemia RGD PMID:3888755 RGD:1642560 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Insulin resistance ClinVar 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
JBrowse link
G Pten phosphatase and tensin homolog IDA
ISO
protein:increased expression, decreased acetylation:liver
CTD Direct Evidence: marker/mechanism
protein:increased activity:liver (human)
CTD
RGD
PMID:18303120 PMID:18385463 PMID:24367090 RGD:2292521, RGD:127285595 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptgds prostaglandin D2 synthase susceptibility ISO RGD PMID:15970590 RGD:1642581 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
JBrowse link
G Ptgis prostaglandin I2 synthase IEP protein:decreased activity:aorta (rat) RGD PMID:16528409 RGD:401960098 NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO associated with Obesity RGD PMID:16039993 RGD:1642605 NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282
JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO
IEP
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
JBrowse link
G Ptprf protein tyrosine phosphatase, receptor type, F ISO mouse model overexpressing human transgene RGD PMID:11309481 PMID:9218523 RGD:1642735, RGD:1642733 NCBI chr 5:131,741,959...131,824,000
Ensembl chr 5:131,742,754...131,810,023
JBrowse link
G Pyy peptide YY ISO protein:decreased expression RGD PMID:17045646 RGD:1625281 NCBI chr10:87,061,155...87,062,278
Ensembl chr10:87,061,161...87,061,815
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO mRNA:decreased expression:adipose tissue RGD PMID:23315497 RGD:8547988 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Rbp4 retinol binding protein 4 disease_progression
ameliorates
ISO
IEP
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
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO
IEP
protein:altered localization:soleus RGD PMID:18198644 PMID:18073321 RGD:2298857, RGD:2298860 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Retn resistin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16493877 PMID:18789551 RGD:2313499 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
JBrowse link
G Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO RGD PMID:16537411 RGD:2311703 NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417
JBrowse link
G Scd stearoyl-CoA desaturase treatment ISO
IEP
CTD Direct Evidence: therapeutic CTD
RGD
PMID:21661758 PMID:26394137 RGD:329955565 NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
JBrowse link
G Selenop selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:14714311 NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852
JBrowse link
G Serpina1 serpin family A member 1 ISO RGD PMID:16752182 RGD:1601202 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
G Serpine1 serpin family E member 1 treatment IEP
IDA
mRNA:increased expression:white adipose tissue (rat) RGD PMID:19776253 PMID:26188590 RGD:8547949, RGD:11073726 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO
IDA
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
JBrowse link
G Shc1 SHC adaptor protein 1 ISO mRNA:increased expression:adipose tissue RGD PMID:17986714 RGD:1643171 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
JBrowse link
G Si sucrase-isomaltase IEP associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine RGD PMID:9878708 RGD:1625544 NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260
JBrowse link
G Sirt1 sirtuin 1 treatment IDA
ISO
associated with Obesity
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:20068143 PMID:21321189 PMID:24442997 PMID:25849131 PMID:26026874 More... RGD:9585759 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Sirt4 sirtuin 4 IEP RGD PMID:20651844 RGD:9586052 NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439
JBrowse link
G Slc27a1 solute carrier family 27 member 1 IDA protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet RGD PMID:17400720 RGD:1642795 NCBI chr16:18,278,984...18,300,173
Ensembl chr16:18,278,984...18,296,063
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:15168018 RGD:1625638 NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO RGD PMID:11436180 RGD:1642802 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:11947963 PMID:18778861 RGD:2313624 NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO associated with Diabetes Mellitus RGD PMID:15240880 RGD:1625677 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
JBrowse link
G Socs3 suppressor of cytokine signaling 3 susceptibility ISO associated with Diabetes Mellitus
associated with Obesity
RGD PMID:15240880 PMID:17295835 RGD:1625677, RGD:2313789 NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22829583 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sod3 superoxide dismutase 3 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma RGD PMID:15171689 RGD:1625698 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
JBrowse link
G Sorbs1 sorbin and SH3 domain containing 1 susceptibility ISO RGD PMID:17351624 RGD:1642731 NCBI chr 1:239,107,882...239,330,276
Ensembl chr 1:239,108,777...239,330,169
JBrowse link
G Sox6 SRY-box transcription factor 6 ISO RGD PMID:16148004 RGD:1581307 NCBI chr 1:169,723,306...170,334,846
Ensembl chr 1:169,729,194...170,277,386
JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: therapeutic CTD PMID:33933676 NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 susceptibility
treatment
ISO
IEP
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
JBrowse link
G Srebf1_v2 sterol regulatory element binding factor 1, variant 2 IEP associated with Fatty Liver;mRNA:increased expression:liver RGD PMID:17241878 RGD:2308807
G Srebf2 sterol regulatory element binding transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20699619 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
JBrowse link
G Stk11 serine/threonine kinase 11 IEP associated with obesity;protein:decreased expression:gastrocnemius RGD PMID:16352671 RGD:1601389 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: therapeutic CTD PMID:24497646 NCBI chr  X:42,225,131...42,233,403
Ensembl chr  X:42,225,372...42,233,402
JBrowse link
G Syn1 synapsin I IEP RGD PMID:29566703 RGD:13542091 NCBI chr  X:1,172,208...1,227,400
Ensembl chr  X:1,172,208...1,227,396
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Insulin resistance ClinVar NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
JBrowse link
G Tcf7l2 transcription factor 7 like 2 ISO DNA:SNP (human) RGD PMID:19509102 RGD:2312433 NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967
JBrowse link
G Tf transferrin IEP protein:increased expression:plasma RGD PMID:17350134 RGD:1601515 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
JBrowse link
G Tfap2b transcription factor AP-2 beta ISO RGD PMID:16373417 RGD:1601544 NCBI chr 9:21,786,251...21,816,054
Ensembl chr 9:21,786,258...21,814,520
JBrowse link
G Thbd thrombomodulin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11453033 RGD:2312460 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tlr4 toll-like receptor 4 severity ISO 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
JBrowse link
G Tnf 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
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO associated with obesity;protein:increased expression:serum RGD PMID:15936463 RGD:1620889 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression RGD PMID:11882518 RGD:1624180 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Trib3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20461355 NCBI chr 3:140,809,634...140,815,230
Ensembl chr 3:140,809,043...140,814,497
JBrowse link
G Tsc1 TSC complex subunit 1 ISO RGD PMID:15380067 RGD:1624197 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
JBrowse link
G Ucp1 uncoupling protein 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human) RGD PMID:16338218 RGD:1624979 NCBI chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852
JBrowse link
G Ucp2 uncoupling protein 2 ISO DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) RGD PMID:17870627 RGD:2313512 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
JBrowse link
G Ucp3 uncoupling protein 3 ISO 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
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO RGD PMID:11882338 RGD:1580351 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:25801026 RGD:14402022 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16631442 RGD:1625711 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
G Xbp1 X-box binding protein 1 treatment ISO
IEP
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
JBrowse link
G Zc3h10 zinc finger CCCH type containing 10 ISO CTD Direct Evidence: therapeutic CTD PMID:31775033 NCBI chr 7:973,415...977,742
Ensembl chr 7:972,855...979,349
JBrowse link
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1644241 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 More... NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: IRAN, TYPE A ClinVar 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
JBrowse link
Metabolic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 susceptibility ISO DNA:SNP:exon:p.R230C (rs9282541) (human) RGD PMID:17287470 RGD:1601092 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
JBrowse link
G Acaca acetyl-CoA carboxylase alpha ameliorates ISO
IEP
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
JBrowse link
G Acacb acetyl-CoA carboxylase beta ISO mRNA:increased expression:liver (mouse) RGD PMID:29684438 RGD:329333017 NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain treatment IDA RGD PMID:25191539 RGD:10047118 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
JBrowse link
G Acat2 acetyl-CoA acetyltransferase 2 susceptibility ISO DNA:polymorphism RGD PMID:14557872 RGD:1581921 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human)
CTD Direct Evidence: marker/mechanism
associated with vascular diseases; protein:decreased expression:plasma
protein:decreased expression:serum
CTD
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
JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphisms: :p.R16G, p.Q27E RGD
GAD
PMID:14557466 PMID:15118671 RGD:1601127, RGD:1331525 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Agt angiotensinogen IEP mRNA, protein:increased expression:adipose tissue RGD PMID:17260464 RGD:1601134 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a susceptibility ISO DNA:snp:3' utr:c.5186A>C RGD PMID:17211857 RGD:1601146 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring ISO RGD PMID:23569246 RGD:14349049 NCBI chr 9:87,804,680...87,808,715
Ensembl chr 9:87,804,749...87,807,913
JBrowse link
G Aldoa aldolase, fructose-bisphosphate A IEP mRNA:increased expression:aorta RGD PMID:21890532 RGD:13673877 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated susceptibility ISO protein:increased expression:serum RGD PMID:16249437 RGD:1601174 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
G Apoa1 apolipoprotein A1 ISO 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
JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:decreased expression:serum RGD PMID:19817643 RGD:2313955 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
JBrowse link
G Apoa5 apolipoprotein A5 susceptibility ISO DNA:polymorphism: :p.S19W (human) RGD PMID:18789138 RGD:2313315 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:plasma RGD PMID:16828905 RGD:1601198 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Apoc3 apolipoprotein C3 susceptibility ISO protein:increased expression:serum (human)
DNA:polymorphism:promoter:-482C>T, -455T>C
RGD PMID:16298371 PMID:17416293 RGD:2306766, RGD:1601223 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Apom apolipoprotein M ISO protein:decreased expression:plasma RGD PMID:19539616 RGD:2314236 NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550
JBrowse link
G Atm ATM serine/threonine kinase ISO RGD PMID:17084711 RGD:1601248 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit IEP RGD PMID:23320804 RGD:13838660 NCBI chr15:30,443,571...30,468,229
Ensembl chr15:30,443,571...30,468,229
JBrowse link
G Bche butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15907830 RGD:1601317 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:11935372 RGD:1580935 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:21760737 RGD:6483594 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G C3 complement C3 ISO RGD PMID:16488421 RGD:2314030 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Capn10 calpain 10 ISO DNA:polymorphism RGD PMID:16546286 RGD:1625050 NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
JBrowse link
G Cck cholecystokinin ISO RGD PMID:17443025 RGD:1625798 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16188961 PMID:18486454 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEP protein:increased secretion:plasma (rat) RGD PMID:19905967 RGD:4889977 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Cd163 CD163 molecule susceptibility ISO protein:increased expression:blood serum (human) RGD PMID:31027316 RGD:127345132 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Cd36 CD36 molecule ISO
IAGP
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
JBrowse link
G Cd40lg CD40 ligand ISO 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
JBrowse link
G Cela2a chymotrypsin like elastase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31358993 NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
JBrowse link
G Chek2 checkpoint kinase 2 IEP mRNA:increased expression:heart left ventricle (rat) RGD PMID:25129990 RGD:10400905 NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO DNA:polymorphism:promoter:-168A>G (human) RGD PMID:17183695 RGD:5491201 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16644639 PMID:21357282 RGD:6482318 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Cst3 cystatin C ISO protein:increased expression:serum (human) RGD PMID:19887833 RGD:2314295 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
JBrowse link
G Cyba cytochrome b-245 alpha chain IEP RGD PMID:16741160 RGD:2317864 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 susceptibility ISO DNA:polymorphism:promoter:-344C>T (human) RGD PMID:17261471 RGD:2307294 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 susceptibility ISO DNA:polymorphism:promoter:-344C>T (human) RGD PMID:17261471 RGD:2307294 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 ISO RGD PMID:32360427 RGD:151347874 NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:21990351 RGD:10401057 NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
JBrowse link
G Dio2 iodothyronine deiodinase 2 ISO DNA:polymorphism: :p.T92A (human) RGD PMID:18198294 RGD:2313696 NCBI chr 6:109,665,523...109,679,809
Ensembl chr 6:109,665,523...109,679,809
JBrowse link
G Ephx2 epoxide hydrolase 2 IMP RGD PMID:22007192 RGD:5688391 NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
JBrowse link
G F3 coagulation factor III, tissue factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:12417540 RGD:2313865 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Fabp2 fatty acid binding protein 2 ISO RGD PMID:16919542 RGD:1626401 NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089
JBrowse link
G Fabp4 fatty acid binding protein 4 ISO protein:increased expression:serum RGD PMID:16919044 RGD:1625406 NCBI chr 2:91,580,879...91,585,567
Ensembl chr 2:91,580,885...91,585,578
JBrowse link
G Fadd Fas associated via death domain IEP protein:increased expression:heart left ventricle RGD PMID:23657904 RGD:11344884 NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
JBrowse link
G Fas Fas cell surface death receptor IEP mRNA:increased expression:liver (rat) RGD PMID:11934685 RGD:628329 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fasn fatty acid synthase ameliorates ISO
IEP
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
JBrowse link
G Fgf19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr 1:200,056,526...200,060,980
Ensembl chr 1:200,056,644...200,060,287
JBrowse link
G Fgf21 fibroblast growth factor 21 treatment ISO RGD PMID:25306889 RGD:10401890 NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO DNA:SNPs: :rs1421085, rs1558902, rs8050136, rs9939609 (human)
DNA:SNP: :rs9939973 (human)
RGD PMID:21796137 PMID:32061761 RGD:329853776, RGD:329901771 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ameliorates IEP RGD PMID:27821167 RGD:401799622 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IEP 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
JBrowse link
G Gcg glucagon ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929
JBrowse link
G Gch1 GTP cyclohydrolase 1 treatment IDA RGD PMID:34200262 RGD:329970293 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
JBrowse link
G Gck glucokinase ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
G Gckr glucokinase regulator ISO RGD PMID:19861489 RGD:7242423 NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 susceptibility ISO 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
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO DNA:polymorphisms
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
In peritoneal dialysis patients
associated with Kidney Diseases;protein:decreased expression:serum
ClinVar
RGD
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
JBrowse link
G Gpr17 G protein-coupled receptor 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34144038 NCBI chr18:23,576,232...23,583,153
Ensembl chr18:23,577,242...23,582,966
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:increased expression:serum RGD PMID:24819036 RGD:401827122 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
JBrowse link
G Gsn gelsolin severity ISO RGD PMID:29684438 RGD:329333017 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:29452132 RGD:14700976 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Hdac3 histone deacetylase 3 IEP RGD PMID:21763752 RGD:9590183 NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
JBrowse link
G Hgf hepatocyte growth factor ISO RGD PMID:15713721 RGD:1642702 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ameliorates IMP
ISO
IEP
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
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:22193921 RGD:10763276 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO RGD PMID:16804065 RGD:1601642 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
JBrowse link
G Hp haptoglobin treatment ISO
IDA
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
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 disease_progression
susceptibility
IEP
ISO
mRNA:increased expression:ascending aorta,epicardial fat (human)
DNA:SNP: (rs12086634)T>G (human)
DNA:SNPs:5'utr,enhancer: (rs846910,rs12086634) (human)
DNA:SNP:: (rs846910) (human)
RGD PMID:14697232 PMID:23007990 PMID:23869418 PMID:21622477 PMID:28750217 RGD:1625074, RGD:329901930, RGD:329901929, RGD:329901919, RGD:329901909 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632216 PMID:18515891 PMID:19142101 NCBI chr  X:110,640,777...110,870,288
Ensembl chr  X:110,641,153...110,870,287
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:19394054 RGD:2313467 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 susceptibility ISO RGD PMID:31064654 RGD:14985252 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G Igf2 insulin-like growth factor 2 IAGP DNA:insertion RGD PMID:18418699 RGD:2311520 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO RGD PMID:16915540 RGD:1626481 NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937
JBrowse link
G Il18 interleukin 18 treatment IEP
ISO
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
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16644639 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Il6r interleukin 6 receptor susceptibility ISO DNA:polymorphism: :p.D358A RGD PMID:16817825 RGD:1625430 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO DNA:SNPs: :rs2276047,snp8(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15220217 PMID:15220217 RGD:1626127 NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11274935 PMID:16259526 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Insr insulin receptor ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Irs1 insulin receptor substrate 1 ameliorates IEP
ISO
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
JBrowse link
G Irs2 insulin receptor substrate 2 ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
JBrowse link
G Itgav integrin subunit alpha V ISO RGD PMID:16784924 RGD:1627640 NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639
JBrowse link
G Kl Klotho IEP
ISO
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
JBrowse link
G Lbp lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349936 NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586
JBrowse link
G Ldlr low density lipoprotein receptor ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Lep leptin ISO
IEP
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
JBrowse link
G Lepr leptin receptor IAGP 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
JBrowse link
G Lipe lipase E, hormone sensitive type ISO mRNA:increased expression:liver (mouse) RGD PMID:29684438 RGD:329333017 NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
JBrowse link
G Lipg lipase G, endothelial type ISO RGD PMID:16354105 RGD:1580865 NCBI chr18:68,514,923...68,536,105
Ensembl chr18:68,514,923...68,536,260
JBrowse link
G Lmna lamin A/C ISO DNA:SNP: :c.138747C>T (human) RGD PMID:15205219 RGD:2306121 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Lrp6 LDL receptor related protein 6 ISO DNA:missense mutation:cds RGD PMID:17332414 RGD:2298725 NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497
JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 susceptibility ISO associated with Coronary Disease;DNA:SNP:exon RGD PMID:14557872 RGD:1581921 NCBI chr14:75,651,371...75,663,380
Ensembl chr14:75,651,376...75,665,414
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO mRNA:decreased expression:blood, leukocyte (human) RGD PMID:26956845 RGD:155791561 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
JBrowse link
G Mir122 microRNA 122 ISO miRNA:increased expression:serum RGD PMID:27899485 RGD:14401601 NCBI chr18:58,758,703...58,758,787 JBrowse link
G Mlxipl MLX interacting protein-like ameliorates IEP RGD PMID:27821167 RGD:401799622 NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
JBrowse link
G Mtmr9 myotubularin related protein 9 ISO DNA:SNP: :rs2293855 (human) RGD PMID:21796137 RGD:329853776 NCBI chr15:37,769,161...37,791,195
Ensembl chr15:37,769,078...37,791,244
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Metabolic syndrome X ClinVar PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 More... NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO
IAGP
protein:increased expression:plasma
DNA:repeats:intron
RGD PMID:17556870 PMID:15922301 RGD:1642337, RGD:1642345 NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 PMID:17389588 NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
JBrowse link
G Ngf nerve growth factor ISO RGD PMID:11935372 RGD:1580935 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Nnmt nicotinamide N-methyltransferase IEP mRNA,protein:increased expression,increased activity:adipose tissue (rat) RGD PMID:25719492 RGD:401793724 NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655
JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO
IDA
IMP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
CTD
ClinVar
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
JBrowse link
G Nox1 NADPH oxidase 1 ISO protein:increased expression, increased activity:peripheral blood mononuclear cell (human) RGD PMID:16380495 RGD:1580973 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ameliorates IEP RGD PMID:27821167 RGD:401799622 NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658
JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ameliorates IEP RGD PMID:27821167 RGD:401799622 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
JBrowse link
G Pde9a phosphodiesterase 9A treatment ISO RGD PMID:34618683 RGD:242170038 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
JBrowse link
G Pla2g4a phospholipase A2 group 4A IEP mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
JBrowse link
G Pla2g6 phospholipase A2 group VI IEP mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
JBrowse link
G Pla2g7 phospholipase A2 group VII IEP mRNA:increased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:serum RGD PMID:18249307 RGD:2311664 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21573798 PMID:14602783 RGD:1642618 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ameliorates IEP
ISO
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
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma no_association
ameliorates
ISO
IDA
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
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:decreased expression:gastrocnemius muscle (rat) RGD PMID:20383225 RGD:10059661 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
JBrowse link
G Prl prolactin ISO RGD PMID:16303834 RGD:1642558 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP protein:increased expression:liver RGD PMID:17883899 RGD:1642586 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rbp4 retinol binding protein 4 disease_progression ISO protein:increased expression:blood serum (human)
associated with obstructive sleep apnea;protein:increased expression:blood plasma (human)
RGD PMID:19339013 PMID:19003725 RGD:329845591, RGD:329853307 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link
G Reg1a regenerating family member 1 alpha treatment IDA RGD PMID:21685239 RGD:10044029 NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
JBrowse link
G Retn resistin ISO DNA:SNP:promoter:-420G>C (rs1862513) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18328350 PMID:17598818 RGD:7207155 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
JBrowse link
G Scd stearoyl-CoA desaturase ameliorates IEP
ISO
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
JBrowse link
G Scg3 secretogranin III ISO DNA:SNP: :rs3764220 (human) RGD PMID:21796137 RGD:329853776 NCBI chr 8:76,399,777...76,442,015
Ensembl chr 8:76,399,777...76,442,015
JBrowse link
G Selp selectin P ISO RGD PMID:19061719 RGD:2312292 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
JBrowse link
G Serpina12 serpin family A member 12 treatment ISO human protein in a mouse model RGD PMID:16030142 RGD:1547845 NCBI chr 6:122,952,552...122,967,271
Ensembl chr 6:122,952,552...122,967,271
JBrowse link
G Serpine1 serpin family E member 1 treatment IDA RGD PMID:26084260 RGD:11073736 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Shbg sex hormone binding globulin ISO protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16968811 PMID:17992261 PMID:17884445 RGD:2313785 NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: SIM1-associated metabolic syndrome ClinVar NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212
JBrowse link
G Sirt1 sirtuin 1 treatment IDA
ISO
IEP
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
JBrowse link
G Slc27a1 solute carrier family 27 member 1 susceptibility ISO RGD PMID:16611988 RGD:1642790 NCBI chr16:18,278,984...18,300,173
Ensembl chr16:18,278,984...18,296,063
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Slc2a4 solute carrier family 2 member 4 ameliorates ISO RGD PMID:31353547 RGD:401850595 NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility ISO DNA:SNPs RGD PMID:14557872 RGD:1581921 NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915
JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:28875871 RGD:26923956 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 disease_progression
ameliorates
ISO
IEP
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
JBrowse link
G Tf transferrin susceptibility ISO protein:increased expression:serum RGD PMID:17416791 RGD:1601514 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP mRNA:increased expression:left heart ventricle RGD PMID:18692559 RGD:2306739 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Thbd thrombomodulin ISO associated with Diabetic Nephropathies;protein:increased expression:plasma RGD PMID:16567841 RGD:1601641 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:24441717 RGD:10450604 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with obesity;protein:increased expression:plasma RGD PMID:17200772 RGD:1624178 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Trib3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18497449 NCBI chr 3:140,809,634...140,815,230
Ensembl chr 3:140,809,043...140,814,497
JBrowse link
G Ucp2 uncoupling protein 2 IEP mRNA:decreased expression:liver (rat) RGD PMID:11934685 RGD:628329 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
JBrowse link
G Ucp3 uncoupling protein 3 treatment IEP RGD PMID:11934685 RGD:628329 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP RGD PMID:18718174 RGD:2313109 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:22206010 RGD:7483588 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16764036 RGD:1625709 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      hyperinsulinism 640
        Congenital Hyperinsulinism + 58
        Homozygous 11p15-p14 Deletion Syndrome 0
        Insulin Resistance + 559
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          inherited metabolic disorder 6256
            carbohydrate metabolic disorder 3309
              glucose metabolism disease 2114
                hyperinsulinism 640
                  Congenital Hyperinsulinism + 58
                  Homozygous 11p15-p14 Deletion Syndrome 0
                  Insulin Resistance + 559
paths to the root