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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:endocrine pancreas disease
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Accession:DOID:1428 term browser browse the term
Synonyms:primary_id: RDO:9004498
 xref: ICD10CM:E16;   ICD9CM:251
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
ClinVar
OMIM
PMID:9337379, PMID:9727719, PMID:11228257, PMID:11479731, PMID:12072887, PMID:12647205, PMID:20346956, PMID:23751782, PMID:25511235, PMID:25741868, PMID:28492532 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
Ensembl chr 1:119,748,002...119,768,905
JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY ClinVar NCBI chr 1:119,711,934...119,744,218
Ensembl chr 1:119,648,411...119,744,218
Ensembl chr 1:119,648,411...119,744,218
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 chr16:30,895,824...30,903,560
Ensembl chr16:30,896,614...30,903,547
Ensembl chr16:30,896,614...30,903,547
JBrowse link
G GUCY2C guanylate cyclase 2C ISS MouseDO NCBI chr12:14,612,632...14,696,625
Ensembl chr12:14,612,632...14,696,599
JBrowse link
G LEP leptin ISS MouseDO NCBI chr 7:128,241,201...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISS MouseDO NCBI chr15:75,346,638...75,357,115
Ensembl chr15:75,346,955...75,357,115
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,756
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISS MouseDO NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PRKCI protein kinase C iota ISS MouseDO NCBI chr 3:170,222,424...170,305,981
Ensembl chr 3:170,222,424...170,305,977
JBrowse link
G SIRT3 sirtuin 3 ISS MouseDO NCBI chr11:215,030...236,931
Ensembl chr11:215,030...236,931
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 ISO protein:increased oxidation:cardiac muscle cell RGD PMID:23997093 RGD:13782087 NCBI chr12:110,281,247...110,351,093
Ensembl chr12:110,280,756...110,351,093
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr19:48,954,825...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,163...70,207,390
Ensembl chr11:70,203,163...70,207,390
JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:30172001 RGD:13792561 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G LEP leptin ISS OMIM:605552 MouseDO NCBI chr 7:128,241,201...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LPL lipoprotein lipase treatment ISO RGD PMID:26996629 RGD:13794382 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G MTTP microsomal triglyceride transfer protein IAGP ClinVar Annotator: match by term: Metabolic syndrome, protection against ClinVar
OMIM
PMID:16721486 NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,563,761...99,623,999
JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr 4:153,684,080...153,710,643
Ensembl chr 4:153,684,070...153,706,260
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TP53INP1 tumor protein p53 inducible nuclear protein 1 ISS OMIM:605552 MouseDO NCBI chr 8:94,925,972...94,949,378
Ensembl chr 8:94,925,972...94,949,378
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 IAGP ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 ClinVar PMID:25741868 NCBI chr 1:27,534,245...27,604,178
Ensembl chr 1:27,534,035...27,604,431
JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B IAGP ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 ClinVar
OMIM
PMID:24827035 NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201
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 IAGP ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 OMIM
ClinVar
PMID:31358993 NCBI chr 1:15,456,732...15,472,091
Ensembl chr 1:15,456,728...15,472,091
JBrowse link
G LIPE lipase E, hormone sensitive type IAGP ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 ClinVar PMID:25741868 NCBI chr19:42,401,512...42,427,421
Ensembl chr19:42,401,514...42,427,388
JBrowse link
G LIPE-AS1 LIPE antisense RNA 1 IAGP ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 ClinVar PMID:25741868 NCBI chr19:42,397,128...42,408,452
Ensembl chr19:42,397,128...42,652,355
JBrowse link
G LIPE-AS1 LIPE antisense RNA 1 IAGP ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 ClinVar PMID:25741868 NCBI chr19:42,397,148...42,652,355
Ensembl chr19:42,397,128...42,652,355
JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPE65 retinoid isomerohydrolase RPE65 IAGP ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency ClinVar PMID:25741868, PMID:30576320 NCBI chr 1:68,428,822...68,450,322
Ensembl chr 1:68,428,822...68,449,954
JBrowse link
G TBX19 T-box transcription factor 19 IAGP
EXP
ClinVar Annotator: match by term: ACTH DEFICIENCY, ISOLATED
ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2830787, PMID:11290323, PMID:12651888, PMID:15476446, PMID:16390921, PMID:17652218, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 1:168,280,877...168,314,426
Ensembl chr 1:168,280,877...168,314,426
JBrowse link
carnitine palmitoyltransferase I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPT1A carnitine palmitoyltransferase 1A IAGP ClinVar Annotator: match by term: Carnitine palmitoyltransferase I deficiency
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency
ClinVar Annotator: match by term: CPT deficiency, hepatic, type IA
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1 deficiency
ClinVar
OMIM
PMID:9048718, PMID:9691089, PMID:11350182, PMID:11350183, PMID:11441142, PMID:12111367, PMID:12189492, PMID:12351641, PMID:14517221, PMID:15110323, PMID:16146704, PMID:16169268, PMID:16958601, PMID:19181627, PMID:19217814, PMID:20301700, PMID:20696606, PMID:21253826, PMID:21763168, PMID:21962599, PMID:23090344, PMID:23700290, PMID:24033266, PMID:24847810, PMID:25449608, PMID:25741868, PMID:26010953, PMID:26820065, PMID:27066452, PMID:27341449, PMID:28125087, PMID:28468868, PMID:28492532, PMID:30101502, PMID:31319225, PMID:32088118 NCBI chr11:68,754,620...68,844,410
Ensembl chr11:68,754,620...68,844,410
JBrowse link
Carnitine Palmitoyltransferase II Deficiency, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPT2 carnitine palmitoyltransferase 2 IAGP ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile ClinVar
OMIM
PMID:736528, PMID:835844, PMID:1086878, PMID:1528846, PMID:1999498, PMID:2647738, PMID:2762996, PMID:7711730, PMID:8358442, PMID:8651281, PMID:8682496, PMID:8786066, PMID:9309694, PMID:9562964, PMID:9600456, PMID:9758712, PMID:10090476, PMID:10398215, PMID:10734268, PMID:10862092, PMID:10873395, PMID:11855939, PMID:12410208, PMID:12673791, PMID:12707442, PMID:14605500, PMID:14615409, PMID:15363638, PMID:15622536, PMID:15642848, PMID:15754283, PMID:15776096, PMID:15811315, PMID:16225172, PMID:16615913, PMID:16781677, PMID:16996287, PMID:17372854, PMID:17651973, PMID:17709715, PMID:17936304, PMID:18306170, PMID:18363739, PMID:18550408, PMID:18577113, PMID:18645163, PMID:18925671, PMID:19762733, PMID:20301431, PMID:20543534, PMID:20661589, PMID:20810031, PMID:20934285, PMID:20952238, PMID:21227726, PMID:21697855, PMID:21709843, PMID:21913903, PMID:22494076, PMID:22652984, PMID:22841441, PMID:22854105, PMID:22975760, PMID:23184072, PMID:23322164, PMID:23700290, PMID:23757202, PMID:24033266, PMID:24398345, PMID:24503134, PMID:24517888, PMID:24602495, PMID:25326635, PMID:25741868, PMID:25827434, PMID:25919294, PMID:26467025, PMID:26636822, PMID:27123472, PMID:27629963, PMID:27974123, PMID:28074886, PMID:28492532, PMID:28516040, PMID:28779239, PMID:30094188 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
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 IAGP
EXP
ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: familial hyperinsulinism
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)
ClinVar
CTD
PMID:7716548, PMID:8923011, PMID:9618169, PMID:9648840, PMID:9867219, PMID:10334322, PMID:10338089, PMID:10447255, PMID:10487673, PMID:10685980, PMID:10720932, PMID:10923633, PMID:11226335, PMID:11272143, PMID:11318841, PMID:11872696, PMID:11999683, PMID:12196481, PMID:12475776, PMID:12784138, PMID:12941782, PMID:14692646, PMID:14715863, PMID:14764815, PMID:15356046, PMID:15562009, PMID:15579781, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16186397, PMID:16357843, PMID:16416420, PMID:16429405, PMID:16455067, PMID:16595597, PMID:16860127, PMID:16969006, PMID:17236890, PMID:17257281, PMID:17378627, PMID:17384337, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17466004, PMID:17575084, PMID:17668386, PMID:17823772, PMID:18025408, PMID:18339976, PMID:18414213, PMID:18436707, PMID:18493152, PMID:18758683, PMID:18988933, PMID:19214942, PMID:19233137, PMID:19475716, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:20427569, PMID:20672374, PMID:20685672, PMID:20799350, PMID:20943781, PMID:21378087, PMID:21716120, PMID:21851374, PMID:21992908, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22802590, PMID:22855730, PMID:22992668, PMID:23067144, PMID:23261959, PMID:23275527, PMID:23345197, PMID:23506826, PMID:23652837, PMID:23771172, PMID:24145932, PMID:24401662, PMID:24442125, PMID:24616771, PMID:24645945, PMID:24686051, PMID:24937539, PMID:25115353, PMID:25117148, PMID:25201519, PMID:25306193, PMID:25323548, PMID:25741868, PMID:25781672, PMID:25972930, PMID:26180531, PMID:26467025, PMID:27175728, PMID:27188453, PMID:27573238, PMID:27682711, PMID:27754802, PMID:27810688, PMID:28442472, PMID:28492532, PMID:29681852, PMID:30352420, PMID:30462810, PMID:7716548, PMID:23506826, PMID:23652837, PMID:20573158, PMID:16429405, PMID:24401662, PMID:21422196, PMID:18596924 RGD:704365, RGD:12790723, RGD:11069847, RGD:12790596, RGD:11067821, RGD:12790587, RGD:11070657, RGD:12743628 NCBI chr11:17,392,498...17,476,849
Ensembl chr11:17,392,498...17,476,879
JBrowse link
G GCK glucokinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15277402 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
JBrowse link
G GLUD1 glutamate dehydrogenase 1 IAGP DNA:missense mutations: : RGD PMID:9571255 RGD:1302513 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase IAGP DNA:deletion:cds (human) RGD PMID:14693719 RGD:2306664 NCBI chr 4:107,989,839...108,035,171
Ensembl chr 4:107,989,714...108,035,175
Ensembl chr 4:107,989,714...108,035,175
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP DNA:mutations: :
ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar PMID:10227563, PMID:10768098, PMID:10983627, PMID:15281001, PMID:15793260, PMID:15928245, PMID:16883527, PMID:16946562, PMID:18414213, PMID:21105491, PMID:22140441, PMID:22232426, PMID:23247789, PMID:24033266, PMID:24097065, PMID:25041077, PMID:25631608, PMID:25741868, PMID:26059258, PMID:26467025, PMID:26512799, PMID:26740944, PMID:27080136, PMID:27420379, PMID:28492532, PMID:20164212 RGD:12904701 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,700...44,434,596
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP
EXP
DNA:missense mutation:exon:p.R34H (c.101G>A) (human)
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
CTD Direct Evidence: marker/mechanism
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
ClinVar
CTD
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579781, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852, PMID:24421282, PMID:23506826, PMID:23652837, PMID:24401662, PMID:17316607 RGD:12743624, RGD:12790723, RGD:11069847, RGD:12790587, RGD:12743643 NCBI chr11:17,385,246...17,389,346
Ensembl chr11:17,385,859...17,389,331
JBrowse link
G KCNT2 potassium sodium-activated channel subfamily T member 2 IAGP ClinVar Annotator: match by term: KCNT2-related condition ClinVar PMID:29069600 NCBI chr 1:196,225,779...196,608,560
Ensembl chr 1:196,225,779...196,609,225
JBrowse link
G TBC1D4 TBC1 domain family member 4 IAGP RGD PMID:19470471 RGD:7248544 NCBI chr13:75,283,503...75,483,144
Ensembl chr13:75,283,503...75,482,169
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 IAGP ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 OMIM
ClinVar
PMID:1021286, PMID:7716548, PMID:8650576, PMID:8751851, PMID:8923011, PMID:9075812, PMID:9382893, PMID:9519757, PMID:9568693, PMID:9618169, PMID:9642650, PMID:9648840, PMID:9769320, PMID:10202168, PMID:10204114, PMID:10334322, PMID:10338089, PMID:10400694, PMID:10426386, PMID:10447255, PMID:10487673, PMID:10615958, PMID:10685980, PMID:10720932, PMID:10923633, PMID:10993895, PMID:11018078, PMID:11226335, PMID:11272143, PMID:11395395, PMID:11457841, PMID:11697420, PMID:11867634, PMID:11999683, PMID:12169627, PMID:12199344, PMID:12364426, PMID:12559865, PMID:12627323, PMID:12784138, PMID:12941782, PMID:14593442, PMID:14692646, PMID:14715863, PMID:14764815, PMID:15111507, PMID:15356046, PMID:15561897, PMID:15562009, PMID:15579781, PMID:15807877, PMID:15842514, PMID:16186397, PMID:16357843, PMID:16380471, PMID:16416420, PMID:16429405, PMID:16442101, PMID:16860127, PMID:16969006, PMID:17236890, PMID:17378627, PMID:17384337, PMID:17466004, PMID:17539904, PMID:17575084, PMID:17668386, PMID:17919176, PMID:17990484, PMID:18025408, PMID:18073294, PMID:18339976, PMID:18346985, PMID:18390792, PMID:18414213, PMID:18436707, PMID:18493152, PMID:18596924, PMID:18599530, PMID:18758683, PMID:18767144, PMID:18988933, PMID:19151370, PMID:19475716, PMID:20042013, PMID:20427569, PMID:20432820, PMID:20573158, PMID:20672374, PMID:20685672, PMID:20799350, PMID:20849526, PMID:20922570, PMID:20943779, PMID:20943781, PMID:21109997, PMID:21214702, PMID:21321069, PMID:21378087, PMID:21411514, PMID:21422196, PMID:21544516, PMID:21617188, PMID:21674179, PMID:21716120, PMID:21851374, PMID:21968111, PMID:21978130, PMID:21992908, PMID:22210575, PMID:22308858, PMID:22562119, PMID:22662265, PMID:22704848, PMID:22796691, PMID:22802590, PMID:22855730, PMID:22876564, PMID:22902787, PMID:23067144, PMID:23226049, PMID:23261959, PMID:23266803, PMID:23273570, PMID:23275527, PMID:23301914, PMID:23345197, PMID:23506826, PMID:23652837, PMID:23744072, PMID:23771172, PMID:23771920, PMID:23798684, PMID:23903354, PMID:24033266, PMID:24044690, PMID:24072082, PMID:24080777, PMID:24145932, PMID:24332968, PMID:24401662, PMID:24411943, PMID:24434300, PMID:24616771, PMID:24645945, PMID:24686051, PMID:24750227, PMID:24768178, PMID:24814349, PMID:24937539, PMID:24959012, PMID:25008049, PMID:25117148, PMID:25201519, PMID:25306193, PMID:25323548, PMID:25518065, PMID:25525159, PMID:25555642, PMID:25584046, PMID:25639667, PMID:25720052, PMID:25741868, PMID:25765446, PMID:25781672, PMID:25931474, PMID:25955821, PMID:25972930, PMID:26180531, PMID:26208381, PMID:26246406, PMID:26268944, PMID:26316440, PMID:26379717, PMID:26431509, PMID:26467025, PMID:26545876, PMID:26594346, PMID:26740944, PMID:26758964, PMID:26839896, PMID:27175728, PMID:27188453, PMID:27313609, PMID:27573238, PMID:27682711, PMID:27691052, PMID:27754802, PMID:27810688, PMID:27889714, PMID:27908292, PMID:28018462, PMID:28095440, PMID:28270372, PMID:28346775, PMID:28442472, PMID:28492532, PMID:28529015, PMID:28701683, PMID:29207974, PMID:29216354, PMID:29644095, PMID:30186238, PMID:30297969, PMID:30352420, PMID:30386300, PMID:30447144, PMID:30462810, PMID:31604004 NCBI chr11:17,392,498...17,476,849
Ensembl chr11:17,392,498...17,476,879
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr11:17,385,246...17,389,346
Ensembl chr11:17,385,859...17,389,331
JBrowse link
G LOC110121471 VISTA enhancer hs1977 IAGP ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:8751851 NCBI chr11:17,412,970...17,415,128 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 IAGP ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 2 ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852 NCBI chr11:17,392,498...17,476,849
Ensembl chr11:17,392,498...17,476,879
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 2 OMIM
ClinVar
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852 NCBI chr11:17,385,246...17,389,346
Ensembl chr11:17,385,859...17,389,331
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 IAGP ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3
ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency
ClinVar
OMIM
PMID:7555485, PMID:8068341, PMID:8349034, PMID:8433729, PMID:8454109, PMID:9435328, PMID:9469993, PMID:10447526, PMID:11315850, PMID:11315851, PMID:11916951, PMID:11942313, PMID:12442280, PMID:12627330, PMID:14517946, PMID:14517956, PMID:15277402, PMID:15305805, PMID:15841481, PMID:15918042, PMID:15928245, PMID:16963153, PMID:16965331, PMID:17573900, PMID:18271687, PMID:19790256, PMID:20132997, PMID:21604084, PMID:22493702, PMID:22611063, PMID:24097065, PMID:24518839, PMID:24728127, PMID:25015100, PMID:25741868, PMID:25850297, PMID:26467025, PMID:28492532 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
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 IAGP ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 ClinVar
OMIM
PMID:904979, PMID:11489939, PMID:14693719, PMID:19318379, PMID:21252247, PMID:22662265, PMID:23273570, PMID:25741868, PMID:27104957, PMID:28492532 NCBI chr 4:107,989,839...108,035,171
Ensembl chr 4:107,989,714...108,035,175
Ensembl chr 4:107,989,714...108,035,175
JBrowse link
G INSR insulin receptor IAGP ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency ClinVar PMID:8288049, PMID:15161766, PMID:25741868, PMID:27896077 NCBI chr19:7,112,257...7,294,414
Ensembl chr19:7,112,255...7,294,414
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 IAGP ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5 ClinVar
OMIM
PMID:8288049, PMID:15161766, PMID:25741868, PMID:27896077 NCBI chr19:7,112,257...7,294,414
Ensembl chr19:7,112,255...7,294,414
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 IAGP ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar
OMIM
PMID:9469993, PMID:9571255, PMID:9843361, PMID:10636977, PMID:10871207, PMID:11214910, PMID:18414213, PMID:18928469, PMID:19046187, PMID:23869231, PMID:25008049, PMID:25741868, PMID:26467025, PMID:26759084, PMID:27188453, PMID:28165182, PMID:28492532, PMID:30306091, PMID:30352420, PMID:30425915 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
JBrowse link
G SHLD2 shieldin complex subunit 2 IAGP ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr10:87,094,478...87,191,468
Ensembl chr10:87,094,161...87,191,468
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 IAGP ClinVar Annotator: match by term: Exercise-induced hyperinsulinemic hypoglycemia
ClinVar Annotator: match by term: Exercise-induced hyperinsulinism
ClinVar
OMIM
PMID:11207177, PMID:17701893, PMID:18414213, PMID:19881260, PMID:25371203, PMID:25741868, PMID:25741869, PMID:26595136, PMID:28492532 NCBI chr 1:112,911,847...112,956,196
Ensembl chr 1:112,911,847...112,957,013
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
IAGP
OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021
ClinVar Annotator: match by term: Islet cell hyperplasia
ClinVar Annotator: match by term: Nesidioblastosis
MouseDO
ClinVar
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 NCBI chr11:17,392,498...17,476,849
Ensembl chr11:17,392,498...17,476,879
JBrowse link
G GCK glucokinase ISS OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 MouseDO NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP ClinVar Annotator: match by term: Islet cell hyperplasia
ClinVar Annotator: match by term: Nesidioblastosis
ClinVar PMID:7847376, PMID:8897013, PMID:8923010, PMID:9356020, PMID:9867219, PMID:10338089, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:14551916, PMID:14715863, PMID:14871556, PMID:15115830, PMID:15504982, PMID:15562009, PMID:15579781, PMID:15579791, PMID:15797964, PMID:15855351, PMID:15998776, PMID:16416420, PMID:16455067, PMID:16595597, PMID:16670688, PMID:16982483, PMID:17257281, PMID:17316607, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17673911, PMID:17823772, PMID:18250167, PMID:18290324, PMID:18414213, PMID:18596924, PMID:18758683, PMID:18767144, PMID:19214942, PMID:19233137, PMID:19254908, PMID:19357197, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20049716, PMID:20424228, PMID:20589481, PMID:20685672, PMID:21115269, PMID:21119644, PMID:21765448, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22311976, PMID:22385882, PMID:22471336, PMID:22512215, PMID:22704848, PMID:22958899, PMID:22992668, PMID:23275527, PMID:23345197, PMID:24434300, PMID:24442125, PMID:24698822, PMID:25115353, PMID:25637631, PMID:25639667, PMID:25741868, PMID:25871929, PMID:25972930, PMID:26467025, PMID:26545876, PMID:26740944, PMID:27065949, PMID:28492532, PMID:29681852 NCBI chr11:17,385,246...17,389,346
Ensembl chr11:17,385,859...17,389,331
JBrowse link
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 TAS
IAGP
ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852, PMID:16416420, PMID:12199344 RGD:1625279, RGD:1598639 NCBI chr11:17,392,498...17,476,849
Ensembl chr11:17,392,498...17,476,879
JBrowse link
G ADCYAP1 adenylate cyclase activating polypeptide 1 ISO RGD PMID:14742740 RGD:2325255 NCBI chr18:904,384...912,172
Ensembl chr18:904,871...912,172
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:16414018 RGD:1599145 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADIPOR1 adiponectin receptor 1 ISO mRNA:decreased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr 1:202,940,825...202,958,572
Ensembl chr 1:202,940,826...202,958,572
JBrowse link
G ADIPOR2 adiponectin receptor 2 ISO mRNA:decreased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr12:1,691,059...1,788,674
Ensembl chr12:1,688,574...1,788,674
JBrowse link
G ADM adrenomedullin IEP associated with Obesity;protein:increased expression:plasma RGD PMID:15789277 RGD:1625301 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
JBrowse link
G ADRA1B adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480, PMID:14581480 RGD:1625772, RGD:1625772 NCBI chr 5:159,916,482...159,989,205
Ensembl chr 5:159,865,080...159,973,012
JBrowse link
G ADRB3 adrenoceptor beta 3 ISO associated with Obesity;mRNA:decreased expression:epidydimis, white fat RGD PMID:11014217 RGD:2313165 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
JBrowse link
G AGT angiotensinogen IAGP associated with obesity;DNA:polymorphism: :p.M235T RGD PMID:16713443 RGD:1601142 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:16565309 RGD:1642975 NCBI chr 3:148,697,871...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G BRD2 bromodomain containing 2 ISO RGD PMID:19883376 RGD:9586446 NCBI chr 6:32,968,594...32,981,505
Ensembl chr 6:32,968,594...32,981,505
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO
EXP
mRNA, protein:increased expression:aorta (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:29035695, PMID:17180354 RGD:8549642 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CD163 CD163 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr12:7,470,811...7,503,808
Ensembl chr12:7,470,813...7,503,893
JBrowse link
G CD40 CD40 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
G CD68 CD68 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP DNA:loss of heterozygosity:pancreatic islet RGD PMID:11723059 RGD:2311334 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
Ensembl chr11:2,883,213...2,885,775
JBrowse link
G COL3A1 collagen type III alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G CYP2C9 cytochrome P450 family 2 subfamily C member 9 TAS DNA:polymorphism:cds:I359L (human) RGD PMID:17963417 RGD:2307148 NCBI chr10:94,938,658...94,990,091
Ensembl chr10:94,938,658...94,990,091
JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Hyperinsulinemia ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808
JBrowse link
G DDC dopa decarboxylase IEP protein:increased expression:pancreatic beta cell (human) RGD PMID:16403819 RGD:5129140 NCBI chr 7:50,458,436...50,565,460
Ensembl chr 7:50,458,436...50,565,405
JBrowse link
G FANCA FA complementation group A EXP CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,737,549...89,816,657
JBrowse link
G FANCC FA complementation group C EXP CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chr 9:95,099,054...95,317,730
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G FBN1 fibrillin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
JBrowse link
G FCGR3B Fc fragment of IgG receptor IIIb EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
JBrowse link
G FOXA2 forkhead box A2 ISO RGD PMID:11445544 RGD:2313243 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,581,005...22,585,455
JBrowse link
G GCG glucagon EXP CTD Direct Evidence: marker/mechanism CTD PMID:3019152 NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404
JBrowse link
G GCK glucokinase IAGP hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar PMID:9435328 RGD:1601294 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,769...69,387,254
Ensembl chr 2:69,319,769...69,387,254
JBrowse link
G GIP gastric inhibitory polypeptide ISO protein:decreased expression:plasma (rat) RGD PMID:8059006 RGD:2312550 NCBI chr17:48,958,554...48,968,596
Ensembl chr17:48,958,554...48,968,596
JBrowse link
G GLUD1 glutamate dehydrogenase 1 IAGP
EXP
ISO
familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9571255, PMID:25741868, PMID:26467025, PMID:10636977, PMID:20670938 RGD:1601353, RGD:6484656 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
JBrowse link
G GPX1 glutathione peroxidase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15184668, PMID:18560803 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,358
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase IAGP ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive ClinVar PMID:28492532 NCBI chr 4:107,989,839...108,035,171
Ensembl chr 4:107,989,714...108,035,175
Ensembl chr 4:107,989,714...108,035,175
JBrowse link
G HMOX1 heme oxygenase 1 EXP CTD Direct Evidence: therapeutic CTD PMID:19171794 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO
IAGP
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar Annotator: match by term: Hyperinsulinemia
ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency
ClinVar PMID:9267996, PMID:9313765, PMID:9449683, PMID:10983627, PMID:15793260, PMID:16883527, PMID:16917892, PMID:16946562, PMID:17573900, PMID:18811724, PMID:20164212, PMID:22662265, PMID:22802087, PMID:24033266, PMID:24285859, PMID:25741868, PMID:25819479, PMID:26467025, PMID:27245055, PMID:28458902, PMID:28492532, PMID:28693455, PMID:29998026, PMID:17407387 RGD:12904698 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,700...44,434,596
JBrowse link
G HP haptoglobin IEP protein:increased expression:serum RGD PMID:17598972 RGD:1626335 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G IL6 interleukin 6 IDA associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) RGD PMID:19375766 RGD:2307250 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G INS insulin IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:2991050, PMID:3511099, PMID:4019786, PMID:6382002, PMID:9667398 RGD:1625121 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,341
Ensembl chr11:2,159,779...2,161,341
JBrowse link
G INSR insulin receptor ISO
EXP
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.P1195L (mouse)
CTD PMID:10949030, PMID:18411068, PMID:10949030, PMID:21549686 RGD:1302523, RGD:10403034 NCBI chr19:7,112,257...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G IREB2 iron responsive element binding protein 2 ISO protein:increased expression:liver (rat) RGD PMID:25385842 RGD:12903966 NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
JBrowse link
G IRS1 insulin receptor substrate 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19734900 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,317...226,799,759
JBrowse link
G ITGAM integrin subunit alpha M EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 TAS
IAGP
ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive
protein:substitution: :p.H259R (human)
ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852, PMID:16416420, PMID:15998776 RGD:1625279, RGD:1625277 NCBI chr11:17,385,246...17,389,346
Ensembl chr11:17,385,859...17,389,331
JBrowse link
G LEP leptin ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:9826672, PMID:22948215 RGD:12904911 NCBI chr 7:128,241,201...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LEPR leptin receptor EXP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:3519326, PMID:15093691, PMID:22949526, PMID:24384915, PMID:25222487, PMID:29988851, PMID:30689673, PMID:26537785 RGD:12911216 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LIPC lipase C, hepatic type ISO
IEP
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 chr15:58,410,457...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G LTA lymphotoxin alpha IAGP associated with Coronary Arteriosclerosis RGD PMID:9726033 RGD:1625034 NCBI chr 6:31,560,550...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G MC4R melanocortin 4 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:23251400 NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775
JBrowse link
G MGRN1 mahogunin ring finger 1 ISO RGD PMID:16638826 RGD:1641947 NCBI chr16:4,624,826...4,690,972
Ensembl chr16:4,616,493...4,690,974
JBrowse link
G MRC1 mannose receptor C-type 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr10:17,809,348...17,911,164
Ensembl chr10:17,809,348...17,911,164
JBrowse link
G MTTP microsomal triglyceride transfer protein susceptibility IAGP DNA:polymorphism:promoter:-493G>T RGD PMID:11849654 RGD:1625490 NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,563,761...99,623,999
JBrowse link
G NEIL1 nei like DNA glycosylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16446448 NCBI chr15:75,346,638...75,357,115
Ensembl chr15:75,346,955...75,357,115
JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: therapeutic CTD PMID:19008412 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NPY5R neuropeptide Y receptor Y5 ISO RGD PMID:15187000 RGD:1625494 NCBI chr 4:163,336,968...163,352,277
Ensembl chr 4:163,343,892...163,351,934
JBrowse link
G PARL presenilin associated rhomboid like no_association IAGP DNA:missense mutation:cds:p.L262V (human) RGD PMID:15729572, PMID:19185381 RGD:12880443, RGD:12880445 NCBI chr 3:183,826,488...183,884,901
Ensembl chr 3:183,815,568...183,884,889
Ensembl chr 3:183,815,568...183,884,889
JBrowse link
G PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO associated with Obesity;protein:increased expression:liver RGD PMID:9705027 RGD:2302681 NCBI chr  X:54,932,961...55,000,052
Ensembl chr  X:54,932,961...54,998,534
JBrowse link
G PKLR pyruvate kinase L/R ISO mRNA:increased expression:liver RGD PMID:14766002 RGD:1625581 NCBI chr 1:155,289,293...155,301,438
Ensembl chr 1:155,289,293...155,301,438
JBrowse link
G PRKCD protein kinase C delta ISO RGD PMID:8826977 RGD:1625605 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PRKCQ protein kinase C theta ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus RGD PMID:8826977 RGD:1625605 NCBI chr10:6,393,038...6,580,646
Ensembl chr10:6,427,143...6,580,301
JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:ovary RGD PMID:18421022 RGD:2292519 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 EXP CTD Direct Evidence: therapeutic CTD PMID:28899902 NCBI chr20:50,510,383...50,585,241
Ensembl chr20:50,510,321...50,585,241
JBrowse link
G PTPRF protein tyrosine phosphatase receptor type F IDA protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced RGD PMID:11309481 RGD:1642735 NCBI chr 1:43,522,238...43,623,666
Ensembl chr 1:43,525,187...43,623,666
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased phosphorylation:liver, skeletal muscle RGD PMID:15692808 RGD:1643026 NCBI chr17:59,893,121...59,950,574
Ensembl chr17:59,893,046...59,950,574
JBrowse link
G SCD stearoyl-CoA desaturase ISO associated with Obesity RGD PMID:16284748 RGD:1580005 NCBI chr10:100,347,233...100,364,826
Ensembl chr10:100,347,233...100,364,826
JBrowse link
G SHLD2 shieldin complex subunit 2 IAGP ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar NCBI chr10:87,094,478...87,191,468
Ensembl chr10:87,094,161...87,191,468
JBrowse link
G SLC16A1 solute carrier family 16 member 1 IAGP ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar PMID:25741868 NCBI chr 1:112,911,847...112,956,196
Ensembl chr 1:112,911,847...112,957,013
JBrowse link
G SLC27A1 solute carrier family 27 member 1 ISO RGD PMID:15281014 RGD:1642794 NCBI chr19:17,468,745...17,506,169
Ensembl chr19:17,468,769...17,506,168
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TSC22D3 TSC22 domain family member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22556341 NCBI chr  X:107,713,221...107,777,329
Ensembl chr  X:107,713,221...107,777,342
JBrowse link
G TXNIP thioredoxin interacting protein susceptibility ISO DNA:nonsense mutation RGD PMID:15047687 RGD:1642753 NCBI chr 1:145,992,435...145,996,579
Ensembl chr 1:145,992,435...145,996,579
JBrowse link
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 ISO RGD PMID:18776135 RGD:2301896 NCBI chr11:17,392,498...17,476,849
Ensembl chr11:17,392,498...17,476,879
JBrowse link
G AGTR2 angiotensin II receptor type 2 IAGP associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :1675G>A (human) RGD PMID:18328310 RGD:2313551 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G AKT2 AKT serine/threonine kinase 2 IAGP RGD PMID:21979934 RGD:7248543 NCBI chr19:40,230,317...40,285,531
Ensembl chr19:40,230,317...40,285,536
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C EXP CTD Direct Evidence: marker/mechanism CTD PMID:15454078 NCBI chr12:1,969,552...2,697,950
Ensembl chr12:1,970,786...2,697,950
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO RGD PMID:11557984 RGD:734816 NCBI chr 2:207,529,943...207,605,988
Ensembl chr 2:207,529,737...207,605,988
JBrowse link
G CRH corticotropin releasing hormone ISO RGD PMID:12606499 RGD:704397 NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
JBrowse link
G CYP2C9 cytochrome P450 family 2 subfamily C member 9 IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphisms:cds:R144C, I359L (human) RGD PMID:15963101 RGD:2307154 NCBI chr10:94,938,658...94,990,091
Ensembl chr10:94,938,658...94,990,091
JBrowse link
G EPO erythropoietin IEP associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma RGD PMID:19211168 RGD:2313835 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G G6PC glucose-6-phosphatase catalytic subunit IAGP ClinVar Annotator: match by term: Hypoglycaemia ClinVar PMID:2172641, PMID:7573034, PMID:7623438, PMID:7744838, PMID:7814621, PMID:8182131, PMID:8211187, PMID:8734807, PMID:9332655, PMID:10612834, PMID:10834516, PMID:10874313, PMID:11310582, PMID:11739393, PMID:12093795, PMID:12373566, PMID:15316959, PMID:18008183, PMID:20301489, PMID:21599942, PMID:23312056, PMID:24033266, PMID:24082139, PMID:24385852, PMID:25308557, PMID:25333069, PMID:25741868, PMID:28397058, PMID:28492532, PMID:32313153 NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438
JBrowse link
G GCK glucokinase IAGP hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M RGD PMID:9435328 RGD:1601294 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
JBrowse link
G GLUD1 glutamate dehydrogenase 1 IAGP familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A RGD PMID:10636977 RGD:1601353 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO mRNA, protein:increased expression:cerebellum (rat) RGD PMID:20056114 RGD:4107025 NCBI chr12:13,537,337...13,982,012
Ensembl chr12:13,437,942...13,982,002
Ensembl chr12:13,437,942...13,982,002
JBrowse link
G GSR glutathione-disulfide reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
JBrowse link
G HDAC8 histone deacetylase 8 IAGP ClinVar Annotator: match by term: Hypoglycaemia ClinVar PMID:30311386 NCBI chr  X:72,329,516...72,573,099
Ensembl chr  X:72,329,516...72,573,101
JBrowse link
G HNF1A HNF1 homeobox A EXP CTD Direct Evidence: marker/mechanism CTD PMID:15787664 NCBI chr12:120,977,683...121,002,512
Ensembl chr12:120,978,543...121,002,512
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP
ISO
associated with Hyperinsulinemia;DNA:frameshift mutation, nonsense mutation, splice-site mutation RGD PMID:18268044, PMID:17407387 RGD:2301837, RGD:12904698 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,700...44,434,596
JBrowse link
G IGF2 insulin like growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:3185662 NCBI chr11:2,129,112...2,149,603
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO RGD PMID:11343120 RGD:737755 NCBI chr11:72,223,861...72,239,147
Ensembl chr11:72,223,701...72,239,147
JBrowse link
G INS insulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:48835, PMID:1324617, PMID:1646414, PMID:1890151, PMID:2554359, PMID:20620209, PMID:22940631 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,341
Ensembl chr11:2,159,779...2,161,341
JBrowse link
G MYOM1 myomesin 1 IAGP ClinVar Annotator: match by term: Hypoglycemia ClinVar PMID:25741868 NCBI chr18:3,066,807...3,220,108
Ensembl chr18:3,066,807...3,220,108
Ensembl chr18:3,066,807...3,220,108
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO RGD PMID:9988280 RGD:737788 NCBI chr 5:68,215,737...68,301,821
Ensembl chr 5:68,215,756...68,301,821
JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO associated with Diabetes Mellitus, Experimental; mRNA:decreased expression:adrenal gland (rat) RGD PMID:15494609 RGD:5130725 NCBI chr17:39,668,019...39,670,475
Ensembl chr17:39,667,981...39,670,475
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:16777972 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,756
JBrowse link
G PPP1R3A protein phosphatase 1 regulatory subunit 3A IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:insertion/deletion:3' UTR (human) RGD PMID:9814479 RGD:1601469 NCBI chr 7:113,876,777...113,919,094
Ensembl chr 7:113,876,777...114,075,920
JBrowse link
G PRL prolactin IEP associated with Hypertension RGD PMID:16617309 RGD:1642557 NCBI chr 6:22,287,246...22,302,897
Ensembl chr 6:22,287,244...22,302,826
JBrowse link
G SERPINA1 serpin family A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17659342 NCBI chr14:94,376,747...94,390,654
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TH tyrosine hydroxylase ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat) RGD PMID:16396986 RGD:5130724 NCBI chr11:2,163,929...2,174,081
Ensembl chr11:2,163,929...2,171,877
Ensembl chr11:2,163,929...2,171,877
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:8774068 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G UCP3 uncoupling protein 3 IMP RGD PMID:10935638 RGD:737762 NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085
JBrowse link
Hypoglycemia, Leucine-Induced 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 IAGP ClinVar Annotator: match by term: Leucine-induced hypoglycemia ClinVar
OMIM
PMID:15356046, PMID:25741868 NCBI chr11:17,392,498...17,476,849
Ensembl chr11:17,392,498...17,476,879
JBrowse link
Hypoinsulinemic Hypoglycemia with Hemihypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT2 AKT serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and hemihypertrophy ClinVar
OMIM
PMID:21979934 NCBI chr19:40,230,317...40,285,531
Ensembl chr19:40,230,317...40,285,536
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 ISO RGD PMID:16485039 RGD:1625727 NCBI chr17:37,084,992...37,406,836
Ensembl chr17:37,084,992...37,406,836
JBrowse link
G ACACB acetyl-CoA carboxylase beta ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:22658938, PMID:16485039 RGD:1625727 NCBI chr12:109,112,666...109,268,226
Ensembl chr12:109,116,595...109,268,226
JBrowse link
G ACE angiotensin I converting enzyme IEA GAD PMID:15118671 RGD:1331525 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACP1 acid phosphatase 1 ISO associated with Obesity RGD PMID:17353188 RGD:2313180 NCBI chr 2:264,947...278,283
Ensembl chr 2:264,140...278,283
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 IEP mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:16788709 RGD:1625735 NCBI chr 4:184,755,595...184,826,593
Ensembl chr 4:184,755,595...184,826,818
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing treatment ISO
EXP
CTD Direct Evidence: therapeutic
associated with Hypertension
CTD PMID:18931039, PMID:21484566, PMID:16041833, PMID:23089228, PMID:21872431 RGD:1599150, RGD:8695951, RGD:8695928 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADIPOR1 adiponectin receptor 1 resistance IAGP associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C RGD PMID:17285539 RGD:1625762 NCBI chr 1:202,940,825...202,958,572
Ensembl chr 1:202,940,826...202,958,572
JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment ISO RGD PMID:30225267, PMID:24797033 RGD:21406435, RGD:25824940 NCBI chr12:1,691,059...1,788,674
Ensembl chr12:1,688,574...1,788,674
JBrowse link
G ADORA1 adenosine A1 receptor treatment IMP
ISO
associated with Obesity RGD PMID:11703426, PMID:15220221 RGD:2313807, RGD:1625243 NCBI chr 1:203,127,705...203,167,405
Ensembl chr 1:203,090,654...203,167,405
JBrowse link
G ADRA1B adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480, PMID:14581480 RGD:1625772, RGD:1625772 NCBI chr 5:159,916,482...159,989,205
Ensembl chr 5:159,865,080...159,973,012
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO
EXP
IAGP
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :p.R16G
CTD PMID:19034036, PMID:11510954, PMID:15699455 RGD:1598757, RGD:1601125 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,825,245...148,828,687
JBrowse link
G ADRB3 adrenoceptor beta 3 no_association IAGP DNA:missense mutation:cds:p.W64R rs4994 (human)
associated with Obesity;DNA:polymorphism: :p.W64R (human)
RGD PMID:10421225, PMID:10582543, PMID:17299491 RGD:1559326, RGD:5684421, RGD:2313158 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO protein:increased expression:dorsal root ganglion, neuron RGD PMID:22357959 RGD:6903873 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G AHR aryl hydrocarbon receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:25734695 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
JBrowse link
G AHSG alpha 2-HS glycoprotein susceptibility IEP
ISO
protein:increased expression:plasma RGD PMID:17011519, PMID:16567827, PMID:17011519 RGD:1625793, RGD:1625794, RGD:1625793 NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318
JBrowse link
G AKT2 AKT serine/threonine kinase 2 no_association IAGP DNA:SNPs RGD PMID:17327441 RGD:1601155 NCBI chr19:40,230,317...40,285,531
Ensembl chr19:40,230,317...40,285,536
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member treatment ISO protein:altered expression, altered activity:liver (rat) RGD PMID:28688179 RGD:14981582 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:19787041 RGD:5509625 NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294
Ensembl chr17:4,630,919...4,642,294
JBrowse link
G ANKRD26 ankyrin repeat domain 26 ISO RGD PMID:18162531 RGD:9681744 NCBI chr10:26,938,195...27,100,498
Ensembl chr10:26,973,793...27,100,494
Ensembl chr10:26,973,793...27,100,494
JBrowse link
G APLN apelin ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chr  X:129,645,259...129,654,956
Ensembl chr  X:129,645,259...129,654,956
JBrowse link
G APOA2 apolipoprotein A2 ISO RGD PMID:11246886 RGD:2313957 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631
JBrowse link
G APOC1 apolipoprotein C1 IMP associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11723061 RGD:2313951 NCBI chr19:44,914,325...44,919,346
Ensembl chr19:44,914,247...44,919,349
JBrowse link
G APOC3 apolipoprotein C3 susceptibility
treatment
ISO RGD PMID:15734841, PMID:15007394 RGD:1601226, RGD:1580750 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
JBrowse link
G AR androgen receptor IDA
EXP
IAGP
CTD Direct Evidence: marker/mechanism
associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG
CTD PMID:21444647, PMID:17332526, PMID:16793958 RGD:1601244, RGD:2306773 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619
JBrowse link
G ARG1 arginase 1 ISO protein:decreased activity:liver (rat) RGD PMID:20593143 RGD:4142796 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
JBrowse link
G ATM ATM serine/threonine kinase ISO protein:decreased expression:muscle: RGD PMID:18534819 RGD:8693659 NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,222,832...108,369,102
Ensembl chr11:108,222,832...108,369,102
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IDA mRNA:increased expression:skeletal muscle RGD PMID:14576983 RGD:1601252 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G BAD BCL2 associated agonist of cell death ISO protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart RGD PMID:21385329 RGD:10053645 NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
JBrowse link
G BCHE butyrylcholinesterase IEP RGD PMID:17917325 RGD:2306776 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G BDKRB1 bradykinin receptor B1 ISO RGD PMID:17618300, PMID:17988733 RGD:5129217, RGD:5129214 NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO RGD PMID:25934999 RGD:11085488 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,690,275...62,709,845
JBrowse link
G C1R complement C1r IEP protein:increased expression:adipocyte RGD PMID:17244723 RGD:1600551 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G C3 complement C3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18615583 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CAPN10 calpain 10 IAGP DNA:SNP:intron:rs3792267 (human) RGD PMID:11018080 RGD:7247736 NCBI chr 2:240,586,734...240,599,104
Ensembl chr 2:240,586,734...240,617,705
JBrowse link
G CASP1 caspase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22325453 NCBI chr11:105,025,443...105,035,591
Ensembl chr11:105,025,443...105,035,250
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:29748970 RGD:13782289 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,649,509
JBrowse link
G CASP8 caspase 8 ISO RGD PMID:29748970 RGD:13782289 NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,287,711
JBrowse link
G CAT catalase IMP associated with Obesity RGD PMID:19188683 RGD:5130761 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CBLB Cbl proto-oncogene B ISO RGD PMID:17601987 RGD:2314038 NCBI chr 3:105,655,461...105,869,552
Ensembl chr 3:105,655,461...105,869,552
JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility IAGP
EXP
ISO
associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:29035695, PMID:18762729, PMID:22983634 RGD:2306985, RGD:8548844 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CD163 CD163 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr12:7,470,811...7,503,808
Ensembl chr12:7,470,813...7,503,893
JBrowse link
G CD36 CD36 molecule ISO
EXP
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Type 2
CTD PMID:14640889, PMID:11175782, PMID:25477422, PMID:12923231, PMID:15231693 RGD:68930, RGD:11041132, RGD:11040926, RGD:2307217 NCBI chr 7:80,602,207...80,679,277
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CD40 CD40 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
G CD68 CD68 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
JBrowse link
G CNR1 cannabinoid receptor 1 ISO associated with Obesity RGD PMID:19553924 RGD:2314662 NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,359
JBrowse link
G CNTF ciliary neurotrophic factor TAS possible therapeutic agent RGD PMID:16675997 RGD:1626122 NCBI chr11:58,622,665...58,625,733
Ensembl chr11:58,622,665...58,625,733
JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914
JBrowse link
G CPB2 carboxypeptidase B2 IEP associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma RGD PMID:11836301 RGD:2313645 NCBI chr13:46,053,066...46,105,033
Ensembl chr13:46,053,186...46,105,033
JBrowse link
G CPE carboxypeptidase E EXP CTD Direct Evidence: marker/mechanism CTD PMID:15358678 NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547
JBrowse link
G CST3 cystatin C IEP associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) RGD PMID:19765773 RGD:2314305 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
JBrowse link
G CTF1 cardiotrophin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr16:30,895,824...30,903,560
Ensembl chr16:30,896,614...30,903,547
Ensembl chr16:30,896,614...30,903,547
JBrowse link
G DIO2 iodothyronine deiodinase 2 IAGP DNA:SNP: :rs225014, p.T92A (human) RGD PMID:11872697 RGD:2313698 NCBI chr14:80,197,526...80,231,057
Ensembl chr14:80,197,527...80,387,757
Ensembl chr14:80,197,527...80,387,757
JBrowse link
G DRD1 dopamine receptor D1 ISO associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule RGD PMID:15798088 RGD:2302119 NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
JBrowse link
G ECH1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chr19:38,815,422...38,831,794
Ensembl chr19:38,815,422...38,831,841
JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22238402 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP DNA:polymorphism:K121Q
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
ClinVar PMID:10480624, PMID:11739459, PMID:14671192, PMID:14988267, PMID:15001634, PMID:15126519, PMID:16025115, PMID:16607460, PMID:16968801, PMID:10480624 RGD:1601043 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G F7 coagulation factor VII severity IEP associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:9187410 RGD:2312406 NCBI chr13:113,105,773...113,120,685
Ensembl chr13:113,105,788...113,120,681
Ensembl chr13:113,105,788...113,120,681
JBrowse link
G FABP2 fatty acid binding protein 2 no_association IAGP DNA:polymorphism:CDS:amino acid A54T, in healthy, moderately overweight subjects in Baton Rouge
DNA:polymorphism:CDS:p.A54T (human)
DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups
DNA:SNP:CDS:p.A54T (human)
RGD PMID:16311100, PMID:14981227, PMID:17211557, PMID:7883976 RGD:1578456, RGD:1626400, RGD:1626407, RGD:1300314 NCBI chr 4:119,317,250...119,322,138
Ensembl chr 4:119,317,250...119,322,138
JBrowse link
G FABP3 fatty acid binding protein 3 severity ISO RGD PMID:16249436 RGD:1578459 NCBI chr 1:31,359,595...31,373,618
Ensembl chr 1:31,365,253...31,376,850
JBrowse link
G FABP4 fatty acid binding protein 4 ISO RGD PMID:17391165 RGD:1625407 NCBI chr 8:81,478,419...81,483,233
Ensembl chr 8:81,478,419...81,483,236
JBrowse link
G FANCA FA complementation group A ISO RGD PMID:22482891 RGD:11046266 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,737,549...89,816,657
JBrowse link
G FANCC FA complementation group C ISO RGD PMID:22482891 RGD:11046266 NCBI chr 9:95,099,054...95,317,730
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G FAS Fas cell surface death receptor treatment ISO associated with hypothalamic disease RGD PMID:29522769 RGD:13792596 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FGF19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr11:69,698,238...69,704,022
Ensembl chr11:69,698,238...69,704,022
JBrowse link
G FIS1 fission, mitochondrial 1 ISO protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr 7:101,239,472...101,245,081
Ensembl chr 7:101,239,458...101,252,316
JBrowse link
G FOXC2 forkhead box C2 IAGP DNA:polymorphism:5'ut:-512C>T RGD PMID:12453913 RGD:1601219 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728
JBrowse link
G FOXO1 forkhead box O1 ISO mRNA:increased expression:adipose tissue: RGD PMID:16041833 RGD:1599150 NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
JBrowse link
G FXN frataxin IAGP DNA:repeats:intron:GAA (human) RGD PMID:10969848 RGD:2307049 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
Ensembl chr 9:69,035,751...69,079,076
Ensembl chr 9:69,035,751...69,079,076
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO associated with Obesity;protein:increased expression:pancreas RGD PMID:23015612 RGD:10449129 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,531,391...154,547,572
JBrowse link
G GCK glucokinase ISO protein:increased expression:pancreatic islet RGD PMID:19039094 RGD:7488970 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 IDA RGD PMID:11118009 RGD:1625423 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,769...69,387,254
Ensembl chr 2:69,319,769...69,387,254
JBrowse link
G GH1 growth hormone 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21559284 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
JBrowse link
G GNAS GNAS complex locus EXP CTD Direct Evidence: marker/mechanism CTD PMID:17062894 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GNB3 G protein subunit beta 3 IAGP DNA:polymorphism: :825C>T (human) RGD PMID:12624279 RGD:1580411 NCBI chr12:6,840,922...6,847,393
Ensembl chr12:6,839,954...6,847,393
JBrowse link
G GPX3 glutathione peroxidase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19270708 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,438...151,028,992
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO RGD PMID:15994203 RGD:1625791 NCBI chr11:67,266,420...67,286,556
Ensembl chr11:67,266,473...67,286,556
JBrowse link
G GSTA4 glutathione S-transferase alpha 4 IEP mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human) RGD PMID:20150287 RGD:5687771 NCBI chr 6:52,977,952...52,995,332
Ensembl chr 6:52,977,948...52,995,304
JBrowse link
G GYS1 glycogen synthase 1 susceptibility IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human) RGD PMID:9267990 RGD:2313176 NCBI chr19:48,968,130...48,993,309
Ensembl chr19:48,968,130...48,993,310
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:17350134 RGD:1601515 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G HMGA1 high mobility group AT-hook 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr 6:34,236,873...34,246,231
Ensembl chr 6:34,236,873...34,246,231
JBrowse link
G HMOX1 heme oxygenase 1 IEP
EXP
mRNA:decreased expression:muscle:defective protection against oxidative stress
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:18375438, PMID:19171794, PMID:12941774 RGD:1601621 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G HNF1A HNF1 homeobox A IEP
IAGP
mRNA:decreased expression:adipocyte
ClinVar Annotator: match by term: Serum hdl cholesterol level, modifier of
ClinVar PMID:8945470, PMID:9112026, PMID:9287053, PMID:9604876, PMID:10333057, PMID:10588527, PMID:10634407, PMID:10852449, PMID:12627330, PMID:12675668, PMID:12788852, PMID:15031772, PMID:15761192, PMID:15928245, PMID:16963153, PMID:17033837, PMID:17192490, PMID:17407072, PMID:17425917, PMID:17440016, PMID:17573900, PMID:17937063, PMID:18332101, PMID:18498634, PMID:18811724, PMID:24728327, PMID:25741868, PMID:26467025, PMID:15094374 RGD:1601482 NCBI chr12:120,977,683...121,002,512
Ensembl chr12:120,978,543...121,002,512
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21786805 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:18948349 RGD:10402862 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A IMP associated with Peripheral Vascular Diseases RGD PMID:17062970 RGD:1624367 NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,550...46,897,076
JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP associated with Obesity;protein:increased secretion:plasma (human)
protein:increased expression:serum
RGD PMID:11782876, PMID:19394054 RGD:1625753, RGD:2313467 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:17726072 NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971
JBrowse link
G IGFBP2 insulin like growth factor binding protein 2 IMP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:22537059, PMID:17259371 RGD:1626479 NCBI chr 2:216,632,828...216,664,436
Ensembl chr 2:216,632,828...216,664,436
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IDA RGD PMID:17237715 RGD:2313762 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 IDA human transgene overexpressed in mouse brain RGD PMID:15889232 RGD:2301717 NCBI chr12:53,097,667...53,102,340
Ensembl chr12:53,097,436...53,102,345
JBrowse link
G IGFBP7 insulin like growth factor binding protein 7 IEP protein:increased expression:serum RGD PMID:16873698 RGD:1626516 NCBI chr 4:57,030,773...57,110,385
Ensembl chr 4:57,030,773...57,110,385
JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:29036520, PMID:19073766 RGD:7495768 NCBI chr 8:42,270,727...42,332,460
Ensembl chr 8:42,271,302...42,332,653
JBrowse link
G IL18 interleukin 18 treatment IEP
ISO
associated with Graves Disease RGD PMID:23257837, PMID:16732281 RGD:8655938, RGD:14695532 NCBI chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1B interleukin 1 beta treatment ISO associated with Obesity;mRNA:increased expression:adipose tissue
associated with hypothalamic disease
RGD PMID:16865359, PMID:29522769 RGD:1626632, RGD:13792596 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL6 interleukin 6 ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat)
mRNA:increased expression:islet of Langerhans
RGD PMID:19328014, PMID:21826222 RGD:2307252, RGD:10402828 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IL6R interleukin 6 receptor IEP protein:decreased expression:serum RGD PMID:14962155 RGD:1625431 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
JBrowse link
G IL7 interleukin 7 EXP CTD Direct Evidence: therapeutic CTD PMID:20376352 NCBI chr 8:78,675,870...78,806,830
Ensembl chr 8:78,675,743...78,805,523
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO associated with Metabolic Syndrome X RGD PMID:17327370, PMID:12453826 RGD:2312440, RGD:2312442 NCBI chr11:72,223,861...72,239,147
Ensembl chr11:72,223,701...72,239,147
JBrowse link
G INS insulin IEP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:11522680, PMID:24648896, PMID:25796170, PMID:3322910 RGD:2311112 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,341
Ensembl chr11:2,159,779...2,161,341
JBrowse link
G INSR insulin receptor disease_progression
treatment
ISO
IAGP
EXP
mRNA, protein:decreased expression:liver (rat)
ClinVar Annotator: match by term: Insulin resistance
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1314826, PMID:1890161, PMID:1963473, PMID:8202531, PMID:10949030, PMID:11887975, PMID:27896077, PMID:10949030, PMID:26300412, PMID:23538485 RGD:1302523, RGD:11529553, RGD:10403037 NCBI chr19:7,112,257...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G IRS1 insulin receptor substrate 1 IAGP
EXP
DNA:polymorphism:exon:G972R
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD
ClinVar
PMID:1311924, PMID:7623569, PMID:8104271, PMID:8647950, PMID:10084586, PMID:10430617, PMID:10591678, PMID:10843189, PMID:12843189, PMID:14671192, PMID:14707024, PMID:15240653, PMID:19734900, PMID:7623569 RGD:1624973 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,317...226,799,759
JBrowse link
G IRS2 insulin receptor substrate 2 IAGP
EXP
DNA:polymorphism:exon:G1057D
CTD Direct Evidence: marker/mechanism
CTD PMID:25808216, PMID:15811564 RGD:1625025 NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583
JBrowse link
G ITGAM integrin subunit alpha M EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9032110 NCBI chr11:17,385,246...17,389,346
Ensembl chr11:17,385,859...17,389,331
JBrowse link
G KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 ISO mRNA, protein:decreased expression:aorta, mesenteric artery RGD PMID:21425425 RGD:10412047 NCBI chr 5:170,374,671...170,389,367
Ensembl chr 5:170,374,671...170,389,634
JBrowse link
G KLF11 Kruppel like factor 11 IAGP RGD PMID:18505768 RGD:2311539 NCBI chr 2:10,043,550...10,054,836
Ensembl chr 2:10,042,849...10,054,836
JBrowse link
G KLF14 Kruppel like factor 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29632379 NCBI chr 7:130,730,697...130,734,207
Ensembl chr 7:130,731,235...130,734,176
JBrowse link
G KLK1 kallikrein 1 IDA RGD PMID:17272402 RGD:1641794 NCBI chr19:50,819,146...50,823,787
Ensembl chr19:50,819,146...50,823,787
JBrowse link
G LEP leptin ISO
EXP
IEP
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:nonsense mutation:cds:
associated with Obesity
CTD PMID:10753628, PMID:11342529, PMID:24150608, PMID:19296906, PMID:23800849, PMID:19419916 RGD:5128697, RGD:8549777, RGD:2311127 NCBI chr 7:128,241,201...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LEPR leptin receptor IAGP
EXP
ISO
associated with Obesity;DNA:polymorphism: :p.K656N (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K656N (human)
CTD PMID:19452630, PMID:20567778, PMID:25367288, PMID:28611668, PMID:29988851, PMID:30689673, PMID:18413223, PMID:23154293, PMID:18632178 RGD:2311142, RGD:13432147, RGD:2311138 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LIPC lipase C, hepatic type EXP CTD Direct Evidence: marker/mechanism CTD PMID:15504970 NCBI chr15:58,410,457...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Insulin resistance syndrome, type A ClinVar PMID:15919811, PMID:16478798, PMID:20848652, PMID:23785128, PMID:24033266, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G LPIN1 lipin 1 IEP RGD PMID:17563064 RGD:1641822 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409
JBrowse link
G LPL lipoprotein lipase ISO RGD PMID:18952837 RGD:2313300 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G LTA lymphotoxin alpha no_association IAGP DNA:polymorphism RGD PMID:9245742 RGD:1625035 NCBI chr 6:31,560,550...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO associated with polycystic ovary syndrome RGD PMID:23349861 RGD:13800789 NCBI chr16:30,114,105...30,123,309
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G MC4R melanocortin 4 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:18454146 NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775
JBrowse link
G METRNL meteorin like, glial cell differentiation regulator EXP CTD Direct Evidence: therapeutic CTD PMID:30213948 NCBI chr17:83,079,609...83,095,122
Ensembl chr17:83,079,609...83,095,122
JBrowse link
G MFN2 mitofusin 2 treatment ISO RGD PMID:24715199 RGD:13204838 NCBI chr 1:11,980,215...12,013,508
Ensembl chr 1:11,980,181...12,015,211
Ensembl chr 1:11,980,181...12,015,211
JBrowse link
G MIF macrophage migration inhibitory factor IEP protein:increased expression:plasma RGD PMID:12552367 RGD:1641955 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G MIR125A microRNA 125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
JBrowse link
G MIR155 microRNA 155 IEP
ISO
miRNA:increased expression:serum RGD PMID:29479888, PMID:27711113 RGD:24922220, RGD:25671464 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MRC1 mannose receptor C-type 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr10:17,809,348...17,911,164
Ensembl chr10:17,809,348...17,911,164
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase IEP associated with Polycystic Ovary Syndrome;protein:increased expression:serum RGD PMID:17582143 RGD:1642341 NCBI chr 7:106,248,298...106,284,983
Ensembl chr 7:106,248,298...106,286,326
JBrowse link
G NEIL1 nei like DNA glycosylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr15:75,346,638...75,357,115
Ensembl chr15:75,346,955...75,357,115
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 IEP associated with obesity; protein:decreased expression:hepatocyte: RGD PMID:32102936 RGD:21201281 NCBI chr 2:177,230,303...177,265,131
Ensembl chr 2:177,227,595...177,392,697
JBrowse link
G NOS2 nitric oxide synthase 2 ISO mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat) RGD PMID:22023455, PMID:21846719 RGD:5509041, RGD:5509075 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO
EXP
protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:11457755, PMID:12716763, PMID:12947532, PMID:19008412, PMID:18298918, PMID:28946194 RGD:2292098, RGD:13450950 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NPPB natriuretic peptide B IEP associated with Obesity and Hypertension;protein:decreased expression:serum RGD PMID:17392814 RGD:1642192 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 susceptibility ISO RGD PMID:16557297 RGD:1625076 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
JBrowse link
G NR4A1 nuclear receptor subfamily 4 group A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chr12:52,022,832...52,059,507
Ensembl chr12:52,022,832...52,059,507
JBrowse link
G NR4A3 nuclear receptor subfamily 4 group A member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chr 9:99,821,885...99,866,893
Ensembl chr 9:99,821,855...99,866,891
JBrowse link
G PARL presenilin associated rhomboid like ISO mRNA:decreased expression:gastrocnemius (rat) RGD PMID:19859837 RGD:12880442 NCBI chr 3:183,826,488...183,884,901
Ensembl chr 3:183,815,568...183,884,889
Ensembl chr 3:183,815,568...183,884,889
JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:pancreatic islet (mouse)
protein:increased expression:pancreatic duct (rat)
RGD PMID:18288891, PMID:16046294 RGD:2311222, RGD:2311223 NCBI chr13:27,919,982...27,926,313
Ensembl chr13:27,920,000...27,926,313
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IDA
EXP
ISO
associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta
CTD Direct Evidence: marker/mechanism
CTD PMID:14714311, PMID:16332940, PMID:10426374, PMID:17283057 RGD:1625212, RGD:1625262, RGD:1625211 NCBI chr 5:68,215,737...68,301,821
Ensembl chr 5:68,215,756...68,301,821
JBrowse link
G PKLR pyruvate kinase L/R ISO mRNA, protein:decreased expression:liver RGD PMID:12958186 RGD:1625583 NCBI chr 1:155,289,293...155,301,438
Ensembl chr 1:155,289,293...155,301,438
JBrowse link
G PLA2G1B phospholipase A2 group IB susceptibility ISO RGD PMID:12376327 RGD:1302550 NCBI chr12:120,322,115...120,327,779
Ensembl chr12:120,322,115...120,327,779
JBrowse link
G PLAC8 placenta associated 8 ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr 4:83,090,048...83,114,729
Ensembl chr 4:83,090,048...83,137,075
JBrowse link
G PLEKHS1 pleckstrin homology domain containing S1 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr10:113,751,262...113,783,429
Ensembl chr10:113,751,262...113,783,429
JBrowse link
G PLIN2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 9:19,108,391...19,127,518
Ensembl chr 9:19,108,375...19,149,290
JBrowse link
G PLTP phospholipid transfer protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr20:45,898,620...45,912,155
Ensembl chr20:45,898,621...45,912,155
JBrowse link
G PMCH pro-melanin concentrating hormone ISO RGD PMID:16002548 RGD:1642484 NCBI chr12:102,196,459...102,199,540
Ensembl chr12:102,196,459...102,197,833
JBrowse link
G PON1 paraoxonase 1 IAGP DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001) RGD PMID:11788650 RGD:1642617 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO
EXP
CTD Direct Evidence: therapeutic CTD PMID:16168052, PMID:21324916, PMID:19322024 RGD:5683642 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,756
JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
associated with Obesity
RGD PMID:19818749, PMID:14676330 RGD:2313780, RGD:2324897 NCBI chr 6:35,342,558...35,428,180
Ensembl chr 6:35,342,558...35,428,191
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP
EXP
DNA:nonsense mutation
CTD Direct Evidence: therapeutic
CTD PMID:16168052, PMID:21354099, PMID:21484566, PMID:12118251 RGD:1601446 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha IAGP
ISO
DNA:missense mutation:cds:p.G482S rs8192678 (human)
mRNA:decreased expression:liver (rat)
RGD PMID:23449621, PMID:22658649 RGD:7241821, RGD:7242170 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PPARGC1B PPARG coactivator 1 beta IEP RGD PMID:16896940 RGD:1642499 NCBI chr 5:149,730,302...149,857,861
Ensembl chr 5:149,730,298...149,855,022
JBrowse link
G PPP1R3A protein phosphatase 1 regulatory subunit 3A IAGP DNA:nonsense mutation
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
DNA:polymorphism:exon:p.D905Y (human)
ClinVar PMID:7581368, PMID:30311386, PMID:12118251, PMID:7581368 RGD:1601446, RGD:1601468 NCBI chr 7:113,876,777...113,919,094
Ensembl chr 7:113,876,777...114,075,920
JBrowse link
G PRDX3 peroxiredoxin 3 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr10:119,167,720...119,178,812
Ensembl chr10:119,167,720...119,178,812
JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 ISO
EXP
associated with Obesity
CTD Direct Evidence: marker/mechanism
CTD PMID:19934007, PMID:22231922 RGD:6484545 NCBI chr 5:40,759,379...40,798,195
Ensembl chr 5:40,759,379...40,798,374
JBrowse link
G PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 susceptibility IAGP
EXP
DNA:SNPs
CTD Direct Evidence: marker/mechanism
CTD PMID:19934007, PMID:16567511 RGD:1625266 NCBI chr 1:56,645,314...56,715,335
Ensembl chr 1:56,645,314...56,715,335
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PRKCB protein kinase C beta ISO RGD PMID:12665248 RGD:1625515 NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611
JBrowse link
G PRKCD protein kinase C delta ISO protein:altered localization:nucleus
associated with Obesity;protein:increased activity:adipocyte
RGD PMID:12217885, PMID:15507533 RGD:729667, RGD:1642527 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G PRKCQ protein kinase C theta ISO protein:altered localization:skeletal muscle
associated with Obesity;protein:decreased expression:skeletal muscle
RGD PMID:9000691, PMID:10923637 RGD:1625604, RGD:1625603 NCBI chr10:6,393,038...6,580,646
Ensembl chr10:6,427,143...6,580,301
JBrowse link
G PRKCZ protein kinase C zeta IDA protein::skeletal muscle:reduced response to insulin in obese and diabetic subjects RGD PMID:12882908 RGD:1642650 NCBI chr 1:2,050,411...2,185,395
Ensembl chr 1:2,050,411...2,185,395
JBrowse link
G PRL prolactin IEP associated with Hyperprolactinemia RGD PMID:3888755 RGD:1642560 NCBI chr 6:22,287,246...22,302,897
Ensembl chr 6:22,287,244...22,302,826
JBrowse link
G PTEN phosphatase and tensin homolog ISO
EXP
protein:increased expression, decreased acetylation:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:18303120, PMID:18385463 RGD:2292521 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G PTGDS prostaglandin D2 synthase susceptibility ISO RGD PMID:15970590 RGD:1642581 NCBI chr 9:136,977,504...136,981,742
Ensembl chr 9:136,975,092...136,981,742
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO associated with Obesity RGD PMID:16039993 RGD:1642605 NCBI chr 8:27,311,478...27,459,391
Ensembl chr 8:27,311,482...27,459,391
JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 IAGP
EXP
DNA:insertion:3'utr:1484insG
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD
ClinVar
PMID:10744717, PMID:11833006, PMID:11833006 RGD:1625240 NCBI chr20:50,510,383...50,585,241
Ensembl chr20:50,510,321...50,585,241
JBrowse link
G PTPRF protein tyrosine phosphatase receptor type F IEP
IDA
protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05)
protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced
RGD PMID:9218523, PMID:11309481 RGD:1642733, RGD:1642735 NCBI chr 1:43,522,238...43,623,666
Ensembl chr 1:43,525,187...43,623,666
JBrowse link
G PYY peptide YY IAGP protein:decreased expression RGD PMID:17045646 RGD:1625281 NCBI chr17:43,952,733...44,004,445
Ensembl chr17:43,952,738...44,004,469
JBrowse link
G RB1 RB transcriptional corepressor 1 IEP mRNA:decreased expression:adipose tissue RGD PMID:23315497 RGD:8547988 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:altered localization:soleus RGD PMID:18198644, PMID:18073321 RGD:2298857, RGD:2298860 NCBI chr11:65,653,601...65,662,946
Ensembl chr11:65,653,597...65,663,090
JBrowse link
G RETN resistin IEP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:16493877, PMID:18789551 RGD:2313499 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
JBrowse link
G RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator IMP RGD PMID:16537411 RGD:2311703 NCBI chr16:66,921,685...66,925,535
Ensembl chr16:66,921,679...66,925,536
JBrowse link
G SELENOP selenoprotein P EXP CTD Direct Evidence: marker/mechanism CTD PMID:14714311 NCBI chr 5:42,799,880...42,811,892
Ensembl chr 5:42,799,880...42,887,392
JBrowse link
G SERPINA1 serpin family A member 1 IEP RGD PMID:16752182 RGD:1601202 NCBI chr14:94,376,747...94,390,654
Ensembl chr14:94,376,747...94,390,693
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO mRNA:increased expression:white adipose tissue (rat) RGD PMID:19776253, PMID:26188590 RGD:8547949, RGD:11073726 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SERPINF1 serpin family F member 1 treatment IEP
IDA
ISO
associated with Hypertension
human protein in a rat model
RGD PMID:19073347, PMID:22714715, PMID:24288442 RGD:2312339, RGD:8655563, RGD:8642993 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G SHC1 SHC adaptor protein 1 IEP mRNA:increased expression:adipose tissue RGD PMID:17986714 RGD:1643171 NCBI chr 1:154,962,298...154,974,492
Ensembl chr 1:154,962,298...154,974,395
JBrowse link
G SI sucrase-isomaltase ISO associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine RGD PMID:9878708 RGD:1625544 NCBI chr 3:164,978,898...165,078,496
Ensembl chr 3:164,978,898...165,078,496
JBrowse link
G SIRT1 sirtuin 1 treatment ISO
EXP
associated with Obesity
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:20068143, PMID:21321189, PMID:24442997, PMID:25849131, PMID:26026874, PMID:19996381 RGD:9585759 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SIRT4 sirtuin 4 ISO RGD PMID:20651844 RGD:9586052 NCBI chr12:120,291,780...120,313,249
Ensembl chr12:120,302,316...120,313,249
JBrowse link
G SLC27A1 solute carrier family 27 member 1 ISO protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet RGD PMID:17400720 RGD:1642795 NCBI chr19:17,468,745...17,506,169
Ensembl chr19:17,468,769...17,506,168
JBrowse link
G SLC27A4 solute carrier family 27 member 4 IEP mRNA:increased expression:subcutaneous adipose tissue RGD PMID:15168018 RGD:1625638 NCBI chr 9:128,340,516...128,361,470
Ensembl chr 9:128,340,527...128,361,470
JBrowse link
G SLC2A3 solute carrier family 2 member 3 IEP mRNA,protein:decreased expression:muscle RGD PMID:11436180 RGD:1642802 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...7,936,187
JBrowse link
G SLC2A4 solute carrier family 2 member 4 IEP
EXP
associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle
CTD Direct Evidence: therapeutic
CTD PMID:11947963, PMID:18778861 RGD:2313624 NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO associated with Diabetes Mellitus RGD PMID:15240880 RGD:1625677 NCBI chr16:11,254,417...11,256,182
Ensembl chr16:11,254,408...11,256,204
Ensembl chr16:11,254,408...11,256,204
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 chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: therapeutic CTD PMID:22829583 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SOD3 superoxide dismutase 3 IEP associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma RGD PMID:15171689 RGD:1625698 NCBI chr 4:24,795,478...24,800,845
Ensembl chr 4:24,789,912...24,800,842
JBrowse link
G SORBS1 sorbin and SH3 domain containing 1 susceptibility ISO RGD PMID:17351624 RGD:1642731 NCBI chr10:95,311,773...95,561,439
Ensembl chr10:95,311,771...95,561,414
JBrowse link
G SOX6 SRY-box transcription factor 6 ISO RGD PMID:16148004 RGD:1581307 NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 susceptibility IAGP
EXP
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP
CTD Direct Evidence: marker/mechanism
associated with Fatty Liver;mRNA:increased expression:liver
CTD PMID:22658938, PMID:18692268, PMID:17241878 RGD:2308809, RGD:2308807 NCBI chr17:17,811,334...17,837,017
Ensembl chr17:17,810,399...17,837,011
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20699619 NCBI chr22:41,833,105...41,907,308
Ensembl chr22:41,833,079...41,907,307
JBrowse link
G STK11 serine/threonine kinase 11 ISO associated with obesity;protein:decreased expression:gastrocnemius RGD PMID:16352671 RGD:1601389 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G STS steroid sulfatase EXP CTD Direct Evidence: therapeutic CTD PMID:24497646 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358
JBrowse link
G SYN1 synapsin I ISO RGD PMID:29566703 RGD:13542091 NCBI chr  X:47,571,901...47,619,857
Ensembl chr  X:47,571,901...47,619,857
JBrowse link
G TBC1D4 TBC1 domain family member 4 IAGP ClinVar Annotator: match by term: Insulin resistance ClinVar NCBI chr13:75,283,503...75,483,144
Ensembl chr13:75,283,503...75,482,169
JBrowse link
G TCF7L2 transcription factor 7 like 2 IAGP DNA:SNP (human) RGD PMID:19509102 RGD:2312433 NCBI chr10:112,950,247...113,167,678
Ensembl chr10:112,950,247...113,167,678
JBrowse link
G TF transferrin ISO protein:increased expression:plasma RGD PMID:17350134 RGD:1601515 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
JBrowse link
G TFAP2B transcription factor AP-2 beta IDA RGD PMID:16373417 RGD:1601544 NCBI chr 6:50,817,692...50,847,619
Ensembl chr 6:50,818,723...50,847,619
JBrowse link
G THBD thrombomodulin IEP associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11453033 RGD:2312460 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G TLR4 toll like receptor 4 severity ISO
IEP
associated with Obesity
protein:increased expression:skeletal muscle
RGD PMID:19675137, PMID:17426960, PMID:18633101 RGD:2312483, RGD:1620681, RGD:2312489 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TNF tumor necrosis factor treatment IAGP
ISO
EXP
associated with obesity
CTD Direct Evidence: marker/mechanism
associated with Obesity
CTD PMID:16493877, PMID:20943792, PMID:16202847, PMID:9832430, PMID:25016878 RGD:1580312, RGD:14995428, RGD:10450578 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IEP associated with obesity;protein:increased expression:serum RGD PMID:15936463 RGD:1620889 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IEP associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression RGD PMID:11882518 RGD:1624180 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TRIB3 tribbles pseudokinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20461355 NCBI chr20:380,629...397,559
Ensembl chr20:362,835...397,559
JBrowse link
G TSC1 TSC complex subunit 1 ISO RGD PMID:15380067 RGD:1624197 NCBI chr 9:132,891,349...132,945,269
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G UCP1 uncoupling protein 1 IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human) RGD PMID:16338218 RGD:1624979 NCBI chr 4:140,555,770...140,568,961
Ensembl chr 4:140,559,431...140,568,961
JBrowse link
G UCP2 uncoupling protein 2 IAGP DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) RGD PMID:17870627 RGD:2313512 NCBI chr11:73,974,671...73,983,202
Ensembl chr11:73,974,672...73,983,246
JBrowse link
G UCP3 uncoupling protein 3 IMP
IAGP
DNA:polymorphism:promoter:-55C>T (human) RGD PMID:17571165, PMID:17870627 RGD:2313515, RGD:2313512 NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 IEP RGD PMID:11882338 RGD:1580351 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
G VDR vitamin D receptor ISO RGD PMID:25801026 RGD:14402022 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G VWF von Willebrand factor IEP protein:increased expression:plasma RGD PMID:16631442 RGD:1625711 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
Ensembl chr12:5,948,877...6,124,770
JBrowse link
G XBP1 X-box binding protein 1 ISO
EXP
CTD Direct Evidence: therapeutic CTD PMID:27325692, PMID:15486293 RGD:2326004 NCBI chr22:28,794,560...28,800,569
Ensembl chr22:28,794,555...28,800,597
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 IAGP ClinVar Annotator: match by term: IRAN, TYPE A
ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A
ClinVar
OMIM
PMID:1644241, PMID:1963473, PMID:1971035, PMID:2002058, PMID:2121734, PMID:2203761, PMID:2211730, PMID:2365819, PMID:2460770, PMID:2544998, PMID:2662406, PMID:2859121, PMID:2983222, PMID:3283938, PMID:3384956, PMID:3510919, PMID:6339538, PMID:7042734, PMID:7657032, PMID:8096518, PMID:8257688, PMID:8288049, PMID:8314008, PMID:8432414, PMID:8900242, PMID:10084586, PMID:10933564, PMID:11463381, PMID:13302174, PMID:15161766, PMID:19135752, PMID:22775283, PMID:24033266, PMID:25741868, PMID:27896077, PMID:28492532 NCBI chr19:7,112,257...7,294,414
Ensembl chr19:7,112,255...7,294,414
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 IAGP DNA:SNP:exon:p.R230C (rs9282541) (human) RGD PMID:17287470 RGD:1601092 NCBI chr 9:104,781,006...104,928,232
Ensembl chr 9:104,781,006...104,928,155
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain treatment ISO RGD PMID:25191539 RGD:10047118 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
JBrowse link
G ACAT2 acetyl-CoA acetyltransferase 2 susceptibility IAGP DNA:polymorphism RGD PMID:14557872 RGD:1581921 NCBI chr 6:159,762,045...159,779,112
Ensembl chr 6:159,762,045...159,779,112
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IAGP
EXP
IEP
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human)
CTD Direct Evidence: marker/mechanism
associated with vascular diseases; protein:decreased expression:plasma
protein:decreased expression:serum
CTD PMID:16793964, PMID:17618945, PMID:18162013, PMID:20833989, PMID:19690575, PMID:17893004, PMID:21625822, PMID:21976521 RGD:2313234, RGD:5686800, RGD:5686428, RGD:5686407 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADRB2 adrenoceptor beta 2 susceptibility IAGP
IEA
DNA:polymorphisms: :p.R16G, p.Q27E RGD
GAD
PMID:14557466, PMID:15118671 RGD:1601127, RGD:1331525 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,825,245...148,828,687
JBrowse link
G AGT angiotensinogen ISO mRNA, protein:increased expression:adipose tissue RGD PMID:17260464 RGD:1601134 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G AGTR1 angiotensin II receptor type 1 susceptibility IAGP DNA:snp:3' utr:c.5186A>C RGD PMID:17211857 RGD:1601146 NCBI chr 3:148,697,871...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G ALDOA aldolase, fructose-bisphosphate A ISO mRNA:increased expression:aorta RGD PMID:21890532 RGD:13673877 NCBI chr16:30,053,090...30,070,420
Ensembl chr16:30,053,090...30,070,420
Ensembl chr16:30,053,090...30,070,420
Ensembl chr16:30,053,090...30,070,420
JBrowse link
G ALDOA aldolase, fructose-bisphosphate A ISO mRNA:increased expression:aorta RGD PMID:21890532 RGD:13673877 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457
Ensembl chr16:30,064,164...30,070,457
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated susceptibility IEP protein:increased expression:serum RGD PMID:16249437 RGD:1601174 NCBI chr 1:21,508,984...21,578,412
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G APOA1 apolipoprotein A1 IEP
IAGP
protein:decreased expression
protein:decreased expression:serum
DNA: polymorphism: :G2, G3 and G5
RGD PMID:17217166, PMID:21410987, PMID:21410987 RGD:1601183, RGD:5508220, RGD:5508220 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOA2 apolipoprotein A2 IEP protein:decreased expression:serum RGD PMID:19817643 RGD:2313955 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631
JBrowse link
G APOA5 apolipoprotein A5 susceptibility IAGP DNA:polymorphism: :p.S19W (human) RGD PMID:18789138 RGD:2313315 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
JBrowse link
G APOB apolipoprotein B IEP protein:increased expression:plasma RGD PMID:16828905 RGD:1601198 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOC3 apolipoprotein C3 susceptibility IEP
IAGP
protein:increased expression:serum
DNA:polymorphism:promoter:-482C>T, -455T>C
RGD PMID:16298371, PMID:17416293 RGD:2306766, RGD:1601223 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
JBrowse link
G APOM apolipoprotein M IEP protein:decreased expression:plasma RGD PMID:19539616 RGD:2314236 NCBI chr 6:31,652,404...31,658,210
Ensembl chr 6:31,652,416...31,658,210
JBrowse link
G ATM ATM serine/threonine kinase ISO RGD PMID:17084711 RGD:1601248 NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,222,832...108,369,102
Ensembl chr11:108,222,832...108,369,102
JBrowse link
G ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit ISO RGD PMID:23320804 RGD:13838660 NCBI chr13:24,680,408...24,712,472
Ensembl chr13:24,680,408...24,712,472
Ensembl chr13:24,680,408...24,712,472
JBrowse link
G BCHE butyrylcholinesterase IEP protein:increased expression:serum RGD PMID:15907830 RGD:1601317 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G BDNF brain derived neurotrophic factor IEP RGD PMID:11935372 RGD:1580935 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G BGLAP bone gamma-carboxyglutamate protein IEP protein:decreased expression:serum RGD PMID:21760737 RGD:6483594 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317
JBrowse link
G C3 complement C3 IEP RGD PMID:16488421 RGD:2314030 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CAPN10 calpain 10 IAGP DNA:polymorphism RGD PMID:16546286 RGD:1625050 NCBI chr 2:240,586,734...240,599,104
Ensembl chr 2:240,586,734...240,617,705
JBrowse link
G CCK cholecystokinin IEP protein:decreased expression:plasma:associated with Obesity, Morbid (MeSH:D009767) RGD PMID:17443025 RGD:1625798 NCBI chr 3:42,257,826...42,266,185
Ensembl chr 3:42,257,825...42,266,185
JBrowse link
G CCL2 C-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16188961, PMID:18486454 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:plasma (rat) RGD PMID:19905967 RGD:4889977 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CD36 CD36 molecule IAGP
ISO
DNA:SNPs: :multiple (human) RGD PMID:18305138, PMID:9916795 RGD:2307208, RGD:619666 NCBI chr 7:80,602,207...80,679,277
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CD40LG CD40 ligand IEP protein:increased expression:serum RGD PMID:16423632, PMID:20006362 RGD:2314214, RGD:5490591 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CELA2A chymotrypsin like elastase 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:31358993 NCBI chr 1:15,456,732...15,472,091
Ensembl chr 1:15,456,728...15,472,091
JBrowse link
G CHEK2 checkpoint kinase 2 ISO mRNA:increased expression:heart left ventricle (rat) RGD PMID:25129990 RGD:10400905 NCBI chr22:28,687,743...28,741,866
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP DNA:polymorphism:promoter:-168A>G RGD PMID:17183695 RGD:5491201 NCBI chr16:10,866,208...10,941,562
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G CRP C-reactive protein IMP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:16644639, PMID:21357282 RGD:6482318 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CST3 cystatin C IEP protein:increased expression:serum (human) RGD PMID:19887833 RGD:2314295 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
JBrowse link
G CYBA cytochrome b-245 alpha chain ISO RGD PMID:16741160 RGD:2317864 NCBI chr16:88,643,289...88,651,079
Ensembl chr16:88,643,289...88,651,054
JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 susceptibility IAGP DNA:polymorphism:promoter:-344C>T (human) RGD PMID:17261471 RGD:2307294 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:21990351 RGD:10401057 NCBI chr 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910
JBrowse link
G DIO2 iodothyronine deiodinase 2 IAGP DNA:polymorphism: :p.T92A (human) RGD PMID:18198294 RGD:2313696 NCBI chr14:80,197,526...80,231,057
Ensembl chr14:80,197,527...80,387,757
Ensembl chr14:80,197,527...80,387,757
JBrowse link
G EPHX2 epoxide hydrolase 2 ISO RGD PMID:22007192 RGD:5688391 NCBI chr 8:27,491,143...27,597,559
Ensembl chr 8:27,490,781...27,545,564
JBrowse link
G F3 coagulation factor III, tissue factor IEP associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:12417540 RGD:2313865 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
JBrowse link
G FABP2 fatty acid binding protein 2 IAGP DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India RGD PMID:16919542 RGD:1626401 NCBI chr 4:119,317,250...119,322,138
Ensembl chr 4:119,317,250...119,322,138
JBrowse link
G FABP4 fatty acid binding protein 4 IEP protein:increased expression:serum RGD PMID:16919044 RGD:1625406 NCBI chr 8:81,478,419...81,483,233
Ensembl chr 8:81,478,419...81,483,236
JBrowse link
G FADD Fas associated via death domain ISO protein:increased expression:heart left ventricle RGD PMID:23657904 RGD:11344884 NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,163...70,207,390
Ensembl chr11:70,203,163...70,207,390
JBrowse link
G FGF19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr11:69,698,238...69,704,022
Ensembl chr11:69,698,238...69,704,022
JBrowse link
G FGF21 fibroblast growth factor 21 treatment ISO RGD PMID:25306889 RGD:10401890 NCBI chr19:48,755,524...48,758,330
Ensembl chr19:48,755,524...48,758,333
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:19374165, PMID:24868532 RGD:2307350, RGD:10449117 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,531,391...154,547,572
JBrowse link
G GCKR glucokinase regulator IMP RGD PMID:19861489 RGD:7242423 NCBI chr 2:27,496,839...27,523,689
Ensembl chr 2:27,496,839...27,523,684
JBrowse link
G GGT1 gamma-glutamyltransferase 1 susceptibility IAGP
IEP
RGD PMID:17095717, PMID:24847614 RGD:1601300, RGD:14747015 NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,556,007...24,628,987
Ensembl chr22:24,556,007...24,628,987
Ensembl chr22:24,556,007...24,628,987
JBrowse link
G GHRL ghrelin and obestatin prepropeptide IAGP
IEP
DNA:polymorphisms
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
In peritoneal dialysis patients
associated with Kidney Diseases;protein:decreased expression:serum
ClinVar PMID:11502844, PMID:12050239, PMID:12161552, PMID:16204371, PMID:16204371, PMID:18552255, PMID:18996292 RGD:1625021, RGD:7242555, RGD:2313748 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947
JBrowse link
G GHRLOS ghrelin opposite strand/antisense RNA IAGP ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to ClinVar PMID:11502844, PMID:12050239, PMID:12161552, PMID:16204371 NCBI chr 3:10,280,952...10,293,449
Ensembl chr 3:10,285,754...10,294,903
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP RGD PMID:29452132 RGD:14700976 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G HDAC3 histone deacetylase 3 ISO RGD PMID:21763752 RGD:9590183 NCBI chr 5:141,620,881...141,636,849
Ensembl chr 5:141,620,876...141,636,849
JBrowse link
G HGF hepatocyte growth factor IDA study in the Japanese population RGD PMID:15713721 RGD:1642702 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G HMGA1 high mobility group AT-hook 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr 6:34,236,873...34,246,231
Ensembl chr 6:34,236,873...34,246,231
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:19461650 RGD:5508692 NCBI chr 5:75,336,334...75,362,116
Ensembl chr 5:75,336,329...75,362,101
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:22193921 RGD:10763276 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP Finnish population; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2) RGD PMID:16804065 RGD:1601642 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,700...44,434,596
JBrowse link
G HP haptoglobin treatment IEP
ISO
protein:increased expression RGD PMID:17007284, PMID:20508159 RGD:1626341, RGD:11041859 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 TAS potential therapeutic target RGD PMID:16929377 RGD:1625075 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
JBrowse link
G HTR2C 5-hydroxytryptamine receptor 2C EXP CTD Direct Evidence: marker/mechanism CTD PMID:17632216, PMID:18515891, PMID:19142101 NCBI chr  X:114,584,078...114,910,061
Ensembl chr  X:114,584,078...114,910,061
JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP protein:increased expression:serum RGD PMID:19394054 RGD:2313467 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 susceptibility ISO RGD PMID:31064654 RGD:14985252 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,504
Ensembl chr15:90,083,045...90,102,504
JBrowse link
G IGF2 insulin like growth factor 2 ISO DNA:insertion RGD PMID:18418699 RGD:2311520 NCBI chr11:2,129,112...2,149,603
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G IGFBP2 insulin like growth factor binding protein 2 IEP RGD PMID:16915540 RGD:1626481 NCBI chr 2:216,632,828...216,664,436
Ensembl chr 2:216,632,828...216,664,436
JBrowse link
G IL18 interleukin 18 treatment ISO
EXP
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:16644639, PMID:19717152, PMID:24456735 RGD:4889401, RGD:8655985 NCBI chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16644639 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IL6R interleukin 6 receptor susceptibility IAGP DNA:polymorphism: :p.D358A RGD PMID:16817825 RGD:1625430 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP
EXP
DNA:SNPs: :rs2276047,snp8(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15220217, PMID:15220217 RGD:1626127 NCBI chr11:72,223,861...72,239,147
Ensembl chr11:72,223,701...72,239,147
JBrowse link
G INS insulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:11274935, PMID:16259526 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,341
Ensembl chr11:2,159,779...2,161,341
JBrowse link
G IRS1 insulin receptor substrate 1 ISO protein:decreased expression:skeletal muscle RGD PMID:10842668 RGD:6482864 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,317...226,799,759
JBrowse link
G ITGAV integrin subunit alpha V IEP RGD PMID:16784924 RGD:1627640 NCBI chr 2:186,590,056...186,680,901
Ensembl chr 2:186,590,056...186,680,901
JBrowse link
G KL klotho ISO mRNA:decreased expression:kidney: RGD PMID:11027545, PMID:11027545 RGD:10403056, RGD:10403056 NCBI chr13:33,016,063...33,066,143
Ensembl chr13:33,016,423...33,066,143
JBrowse link
G LBP lipopolysaccharide binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:23349936 NCBI chr20:38,346,482...38,377,013
Ensembl chr20:38,346,482...38,377,013
JBrowse link
G LEP leptin IEP
EXP
ISO
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma (rat)
CTD PMID:16793964, PMID:18515891, PMID:19462476, PMID:25380250 RGD:2311125, RGD:10053625 NCBI chr 7:128,241,201...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LIPG lipase G, endothelial type IEP RGD PMID:16354105 RGD:1580865 NCBI chr18:49,560,699...49,599,185
Ensembl chr18:49,560,699...49,599,185
JBrowse link
G LMNA lamin A/C IAGP DNA:SNP: :c.138747C>T (human) RGD PMID:15205219 RGD:2306121 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G LOC110973015 NOS3 5' regulatory region IAGP ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to ClinVar PMID:28361419 NCBI chr 7:150,988,222...150,994,129 JBrowse link
G LRP6 LDL receptor related protein 6 IAGP DNA:missense mutation:cds RGD PMID:17332414 RGD:2298725 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G LRPAP1 LDL receptor related protein associated protein 1 susceptibility IAGP associated with Coronary Disease;DNA:SNP:exon RGD PMID:14557872 RGD:1581921 NCBI chr 4:3,503,612...3,532,497
Ensembl chr 4:3,503,612...3,532,446
JBrowse link
G MIR122 microRNA 122 IEP miRNA:increased expression:serum RGD PMID:27899485 RGD:14401601 NCBI chr18:58,451,074...58,451,158
Ensembl chr18:58,451,074...58,451,158
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase ISO
IEP
DNA:repeats:intron
protein:increased expression:plasma
RGD PMID:15922301, PMID:17556870 RGD:1642345, RGD:1642337 NCBI chr 7:106,248,298...106,284,983
Ensembl chr 7:106,248,298...106,286,326
JBrowse link
G NEIL1 nei like DNA glycosylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16446448, PMID:17389588 NCBI chr15:75,346,638...75,357,115
Ensembl chr15:75,346,955...75,357,115
JBrowse link
G NGF nerve growth factor IEP RGD PMID:11935372 RGD:1580935 NCBI chr 1:115,285,915...115,338,253
Ensembl chr 1:115,285,917...115,338,256
Ensembl chr 1:115,285,917...115,338,256
Ensembl chr 1:115,285,917...115,338,256
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO
IAGP
EXP
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12947532, PMID:15269839, PMID:20876122, PMID:28361419, PMID:29127233, PMID:28967023 RGD:13450928, RGD:13461762 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NOX1 NADPH oxidase 1 IEP protein:increased expression, increased activity:peripheral blood mononuclear cell (human) RGD PMID:16380495 RGD:1580973 NCBI chr  X:100,843,324...100,874,359
Ensembl chr  X:100,843,324...100,874,359
JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr 3:119,782,101...119,818,487
Ensembl chr 3:119,780,484...119,818,485
JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr 1:161,229,666...161,238,623
Ensembl chr 1:161,229,666...161,238,302
Ensembl chr 1:161,229,666...161,238,302
JBrowse link
G PLA2G4A phospholipase A2 group IVA ISO mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 1:186,828,949...186,988,981
Ensembl chr 1:186,828,949...186,988,981
JBrowse link
G PLA2G6 phospholipase A2 group VI ISO mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
JBrowse link
G PLA2G7 phospholipase A2 group VII ISO mRNA:increased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 6:46,700,558...46,735,836
Ensembl chr 6:46,704,201...46,735,693
JBrowse link
G PLAT plasminogen activator, tissue type IEP protein:increased expression:serum RGD PMID:18249307 RGD:2311664 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,676
JBrowse link
G PON1 paraoxonase 1 IEP
EXP
protein:decreased activity:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:21573798, PMID:14602783 RGD:1642618 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma no_association IAGP
ISO
DNA:SNP: :p.P12A (human) RGD PMID:18959602, PMID:16183630, PMID:16186413 RGD:2301843, RGD:1580683, RGD:1580686 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:decreased expression:gastrocnemius muscle (rat) RGD PMID:20383225 RGD:10059661 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PRL prolactin IEP RGD PMID:16303834 RGD:1642558 NCBI chr 6:22,287,246...22,302,897
Ensembl chr 6:22,287,244...22,302,826
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:liver RGD PMID:17883899 RGD:1642586 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,423
JBrowse link
G REG1A regenerating family member 1 alpha treatment ISO RGD PMID:21685239 RGD:10044029 NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409
JBrowse link
G RETN resistin IAGP
EXP
DNA:SNP:promoter:-420C>G (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18328350, PMID:17598818 RGD:7207155 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
JBrowse link
G SELP selectin P IEP RGD PMID:19061719 RGD:2312292 NCBI chr 1:169,588,849...169,630,125
Ensembl chr 1:169,588,849...169,630,193
JBrowse link
G SERPINA12 serpin family A member 12 treatment IDA human protein in a mouse model RGD PMID:16030142 RGD:1547845 NCBI chr14:94,481,651...94,517,844
Ensembl chr14:94,487,274...94,517,844
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO RGD PMID:26084260 RGD:11073736 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SHBG sex hormone binding globulin IEP
EXP
protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:16968811, PMID:17992261, PMID:17884445 RGD:2313785 NCBI chr17:7,614,064...7,633,372
Ensembl chr17:7,613,946...7,633,382
JBrowse link
G SIRT1 sirtuin 1 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism
protein:decreased expression:hippocampus (rat)
CTD PMID:20068143, PMID:21514307, PMID:25356430 RGD:9585758, RGD:10053569 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SLC27A1 solute carrier family 27 member 1 susceptibility ISO RGD PMID:16611988 RGD:1642790 NCBI chr19:17,468,745...17,506,169
Ensembl chr19:17,468,769...17,506,168
JBrowse link
G SOAT2 sterol O-acyltransferase 2 susceptibility IAGP DNA:SNPs RGD PMID:14557872 RGD:1581921 NCBI chr12:53,103,486...53,124,535
Ensembl chr12:53,103,486...53,124,535
JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:28875871 RGD:26923956 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TF transferrin susceptibility IEP protein:increased expression:serum RGD PMID:17416791 RGD:1601514 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO mRNA:increased expression:left heart ventricle RGD PMID:18692559 RGD:2306739 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G THBD thrombomodulin IEP associated with Diabetic Nephropathies;protein:increased expression:plasma RGD PMID:16567841 RGD:1601641 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:24441717 RGD:10450604 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP associated with obesity;protein:increased expression:plasma RGD PMID:17200772 RGD:1624178 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TRIB3 tribbles pseudokinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18497449 NCBI chr20:380,629...397,559
Ensembl chr20:362,835...397,559
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:18718174 RGD:2313109 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
JBrowse link
G VEGFA vascular endothelial growth factor A IEP protein:increased expression:plasma: RGD PMID:22206010 RGD:7483588 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VWF von Willebrand factor IEP protein:increased expression:plasma RGD PMID:16764036 RGD:1625709 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
Ensembl chr12:5,948,877...6,124,770
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18837
    disease of anatomical entity 17323
      gastrointestinal system disease 4594
        pancreas disease 907
          endocrine pancreas disease 339
            abnormality of glucagon secretion 0
            gastrin secretion abnormality 0
            hyperinsulinism + 322
            hypoglycemia + 45
            hypoglycemic coma 0
            pancreatic cholera 0
            post-surgical hypoinsulinemia 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.