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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-Coenzyme A synthase 2 ISO ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
ClinVar Annotator: match by OMIM:605911
OMIM
ClinVar
PMID:9337379, PMID:9727719, PMID:11228257, PMID:11479731, PMID:12072887, PMID:12647205, PMID:20346956, PMID:23751782, PMID:25511235, PMID:25741868, PMID:28492532 NCBI chr 3:98,280,431...98,310,738
Ensembl chr 3:98,280,435...98,310,738
JBrowse link
G Phgdh 3-phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY ClinVar NCBI chr 3:98,313,171...98,339,969
Ensembl chr 3:98,313,170...98,339,990
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 IEA MouseDO NCBI chr 7:127,712,676...127,718,188
Ensembl chr 7:127,712,736...127,718,192
JBrowse link
G Gucy2c guanylate cyclase 2c IEA MouseDO NCBI chr 6:136,697,284...136,781,742
Ensembl chr 6:136,697,284...136,781,765
JBrowse link
G Lep leptin IEA MouseDO NCBI chr 6:29,060,221...29,073,876
Ensembl chr 6:29,060,220...29,073,877
JBrowse link
G Neil1 nei endonuclease VIII-like 1 (E. coli) IEA MouseDO NCBI chr 9:57,142,788...57,148,688
Ensembl chr 9:57,142,800...57,148,305
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr15:85,734,910...85,806,851
Ensembl chr15:85,734,983...85,802,819
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma IEA MouseDO NCBI chr 6:115,360,879...115,490,404
Ensembl chr 6:115,360,951...115,490,399
JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr 5:51,454,249...52,115,853
Ensembl chr 5:51,454,250...51,567,726
JBrowse link
G Prkci protein kinase C, iota IEA MouseDO NCBI chr 3:30,995,742...31,052,740
Ensembl chr 3:30,995,747...31,052,959
JBrowse link
G Sirt3 sirtuin 3 IEA MouseDO NCBI chr 7:140,863,663...140,882,309
Ensembl chr 7:140,863,666...140,882,309
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, Ca++ transporting, cardiac muscle, slow twitch 2 ISO protein:increased oxidation:cardiac muscle cell RGD PMID:23997093 RGD:13782087 NCBI chr 5:122,453,513...122,502,225
Ensembl chr 5:122,453,513...122,502,225
JBrowse link
G Bax BCL2-associated X protein treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 7:45,461,695...45,466,903
Ensembl chr 7:45,461,697...45,466,898
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G Fadd Fas (TNFRSF6)-associated via death domain treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 7:144,578,323...144,582,441
Ensembl chr 7:144,577,318...144,582,463
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) ISO RGD PMID:30172001 RGD:13792561 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Lep leptin IEA OMIM:605552 MouseDO NCBI chr 6:29,060,221...29,073,876
Ensembl chr 6:29,060,220...29,073,877
JBrowse link
G Lpl lipoprotein lipase treatment ISO RGD PMID:26996629 RGD:13794382 NCBI chr 8:68,880,555...68,906,932
Ensembl chr 8:68,880,491...68,907,448
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Metabolic syndrome, protection against ClinVar
OMIM
PMID:16721486 NCBI chr 3:138,089,855...138,143,418
Ensembl chr 3:138,089,854...138,144,968
JBrowse link
G Tlr2 toll-like receptor 2 susceptibility IMP RGD PMID:19841034 RGD:15090861 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Trp53inp1 transformation related protein 53 inducible nuclear protein 1 IEA OMIM:605552 MouseDO NCBI chr 4:11,156,441...11,174,379
Ensembl chr 4:11,156,431...11,174,379
JBrowse link
abdominal obesity-metabolic syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 ClinVar PMID:25741868 NCBI chr 4:133,011,265...133,078,110
Ensembl chr 4:133,011,260...133,078,110
JBrowse link
G Dyrk1b dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1b ISO ClinVar Annotator: match by OMIM:615812 OMIM
ClinVar
PMID:24827035 NCBI chr 7:28,179,447...28,197,910
Ensembl chr 7:28,179,469...28,187,294
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 family, member 2A ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 OMIM
ClinVar
PMID:31358993 NCBI chr 4:141,814,954...141,826,005
Ensembl chr 4:141,814,962...141,826,160
JBrowse link
G Lipe lipase, hormone sensitive ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 ClinVar PMID:25741868 NCBI chr 7:25,379,527...25,398,486
Ensembl chr 7:25,379,527...25,398,710
JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinal pigment epithelium 65 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency ClinVar PMID:25741868, PMID:30576320 NCBI chr 3:159,599,075...159,625,307
Ensembl chr 3:159,599,175...159,625,321
JBrowse link
G Tbx19 T-box 19 ISO
IEA
ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency
OMIM:201400
ClinVar Annotator: match by OMIM:201400
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:2830787, PMID:11290323, PMID:12651888, PMID:15476446, PMID:16390921, PMID:17652218, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 1:165,137,834...165,160,773
Ensembl chr 1:165,137,855...165,160,773
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, liver ISO
IEA
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency
ClinVar Annotator: match by term: Carnitine palmitoyltransferase I deficiency
ClinVar Annotator: match by term: CPT deficiency, hepatic, type IA
OMIM:255120
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1 deficiency
ClinVar Annotator: match by OMIM:255120
OMIM
ClinVar
MouseDO
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 chr19:3,322,326...3,385,735
Ensembl chr19:3,322,334...3,385,733
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 ISO ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile
ClinVar Annotator: match by OMIM:600649
OMIM
ClinVar
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 4:107,903,982...107,923,589
Ensembl chr 4:107,903,981...107,923,610
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, sub-family C (CFTR/MRP), member 8 ISO ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
DNA:mutations:exon:multiple
DNA:missense mutations, nonsense mutations, splice-site mutations:CDS:multiple
DNA:missense mutations:exon:p.G1485E (c.4454G>A), p.D1506E (c.4518C>A), p.M1544K (c.4541T>A) (human)
DNA:mutations:exon, intron:multiple
DNA:deletion: :p.S1387del (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:256450
ClinVar Annotator: match by term: familial hyperinsulinism
ClinVar Annotator: match by term: Congenital Hyperinsulinism
ClinVar
CTD
PMID:7716548, PMID:8923011, PMID: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 chr 7:46,104,523...46,180,039
Ensembl chr 7:46,104,523...46,180,033
JBrowse link
G Gck glucokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15277402 NCBI chr11:5,900,816...5,950,081
Ensembl chr11:5,900,820...5,950,081
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO DNA:missense mutations: : RGD PMID:9571255 RGD:1302513 NCBI chr14:34,310,727...34,345,033
Ensembl chr14:34,310,727...34,345,265
JBrowse link
G Hadh hydroxyacyl-Coenzyme A dehydrogenase ISO DNA:deletion:cds (human) RGD PMID:14693719 RGD:2306664 NCBI chr 3:131,233,419...131,272,101
Ensembl chr 3:131,233,419...131,272,101
JBrowse link
G Hnf4a hepatic nuclear factor 4, alpha ISO DNA:mutations: :
ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar PMID:10227563, PMID:10768098, PMID:10983627, PMID:15281001, PMID:15793260, PMID:15928245, PMID:16883527, PMID:16946562, PMID:18414213, PMID:21105491, PMID:22140441, PMID:22232426, PMID:23247789, PMID:24033266, PMID:24097065, PMID:25041077, PMID:25631608, PMID:25741868, PMID:26059258, PMID:26467025, PMID:26512799, PMID:26740944, PMID:27080136, PMID:27420379, PMID:28492532, PMID:20164212 RGD:12904701 NCBI chr 2:163,506,811...163,572,907
Ensembl chr 2:163,506,808...163,572,910
JBrowse link
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
DNA:SNPs:exon:c.151G>T, c.1017G>T (human)
DNA:missense mutations, frameshift mutations:CDS:multiple
DNA:deletion, frameshift mutation, missense mutations:exon:multiple
DNA:deletion, insertion:exon
DNA:missense mutation:exon:p.R34H (c.101G>A) (human)
CTD
ClinVar
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579781, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852, PMID:23506826, PMID:23652837, PMID:24401662, PMID:17316607, PMID:24421282 RGD:12790723, RGD:11069847, RGD:12790587, RGD:12743643, RGD:12743624 NCBI chr 7:46,097,123...46,100,952
Ensembl chr 7:46,093,953...46,100,764
JBrowse link
G Kcnt2 potassium channel, subfamily T, member 2 ISO ClinVar Annotator: match by term: KCNT2-related condition ClinVar PMID:29069600 NCBI chr 1:140,245,657...140,614,045
Ensembl chr 1:140,246,158...140,612,067
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr14:101,442,360...101,609,281
Ensembl chr14:101,442,360...101,609,191
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, sub-family C (CFTR/MRP), member 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 OMIM
ClinVar
PMID:1021286, PMID:7716548, PMID:8650576, PMID:8751851, PMID:8923011, PMID:9075812, PMID:9382893, PMID:9519757, PMID:9568693, PMID:9618169, PMID:9642650, PMID:9648840, PMID:9769320, PMID:10202168, PMID:10204114, PMID:10334322, PMID:10338089, PMID:10400694, PMID:10426386, PMID:10447255, PMID:10487673, PMID:10615958, PMID:10685980, PMID:10720932, PMID:10923633, PMID:10993895, PMID:11018078, PMID:11226335, PMID:11272143, PMID:11395395, PMID:11457841, PMID:11697420, PMID:11867634, PMID:11999683, PMID:12169627, PMID:12199344, PMID:12364426, PMID:12559865, PMID:12627323, PMID:12784138, PMID:12941782, PMID:14593442, PMID:14692646, PMID:14715863, PMID:14764815, PMID:15111507, PMID:15356046, PMID:15561897, PMID:15562009, PMID:15579781, PMID:15807877, PMID:15842514, PMID:16186397, PMID:16357843, PMID:16380471, PMID:16416420, PMID:16429405, PMID:16442101, PMID:16860127, PMID:16969006, PMID:17236890, PMID:17378627, PMID:17384337, PMID:17466004, PMID:17539904, PMID:17575084, PMID:17668386, PMID:17919176, PMID:17990484, PMID:18025408, PMID:18073294, PMID:18339976, PMID:18346985, PMID:18390792, PMID:18414213, PMID:18436707, PMID:18493152, PMID:18596924, PMID:18599530, PMID:18758683, PMID:18767144, PMID:18988933, PMID:19151370, PMID:19475716, PMID:20042013, PMID:20427569, PMID:20432820, PMID:20573158, PMID:20672374, PMID:20685672, PMID:20799350, PMID:20849526, PMID:20922570, PMID:20943779, PMID:20943781, PMID:21109997, PMID:21214702, PMID:21321069, PMID:21378087, PMID:21411514, PMID:21422196, PMID:21544516, PMID:21617188, PMID:21674179, PMID:21716120, PMID:21851374, PMID:21968111, PMID:21978130, PMID:21992908, PMID:22210575, PMID:22308858, PMID:22562119, PMID:22662265, PMID:22704848, PMID:22796691, PMID:22802590, PMID:22855730, PMID:22876564, PMID:22902787, PMID:23067144, PMID:23226049, PMID:23261959, PMID:23266803, PMID:23273570, PMID:23275527, PMID:23301914, PMID:23345197, PMID:23506826, PMID:23652837, PMID:23744072, PMID:23771172, PMID:23771920, PMID:23798684, PMID:23903354, PMID:24033266, PMID:24044690, PMID:24072082, PMID:24080777, PMID:24145932, PMID:24332968, PMID:24401662, PMID:24411943, PMID:24434300, PMID:24616771, PMID:24645945, PMID:24686051, PMID:24750227, PMID:24768178, PMID:24814349, PMID:24937539, PMID:24959012, PMID:25008049, PMID:25117148, PMID:25201519, PMID:25306193, PMID:25323548, PMID:25518065, PMID:25525159, PMID:25555642, PMID:25584046, PMID:25639667, PMID:25720052, PMID:25741868, PMID:25765446, PMID:25781672, PMID:25931474, PMID:25955821, PMID:25972930, PMID:26180531, PMID:26208381, PMID:26246406, PMID:26268944, PMID:26316440, PMID:26379717, PMID:26431509, PMID:26467025, PMID:26545876, PMID:26594346, PMID:26740944, PMID:26758964, PMID:26839896, PMID:27175728, PMID:27188453, PMID:27313609, PMID:27573238, PMID:27682711, PMID:27691052, PMID:27754802, PMID:27810688, PMID:27889714, PMID:27908292, PMID:28018462, PMID:28095440, PMID:28270372, PMID:28346775, PMID:28442472, PMID:28492532, PMID:28529015, PMID:28701683, PMID:29207974, PMID:29216354, PMID:29644095, PMID:30186238, PMID:30297969, PMID:30352420, PMID:30386300, PMID:30447144, PMID:30462810, PMID:31604004 NCBI chr 7:46,104,523...46,180,039
Ensembl chr 7:46,104,523...46,180,033
JBrowse link
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 7:46,097,123...46,100,952
Ensembl chr 7:46,093,953...46,100,764
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, sub-family C (CFTR/MRP), member 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 2 ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852 NCBI chr 7:46,104,523...46,180,039
Ensembl chr 7:46,104,523...46,180,033
JBrowse link
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 2 OMIM
ClinVar
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852 NCBI chr 7:46,097,123...46,100,952
Ensembl chr 7:46,093,953...46,100,764
JBrowse link
familial hyperinsulinemic hypoglycemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gck glucokinase ISO ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3
ClinVar Annotator: match by OMIM:602485
OMIM
ClinVar
PMID:7555485, PMID:8068341, PMID:8349034, PMID:8433729, PMID:8454109, PMID:9435328, PMID:9469993, PMID:10447526, PMID:11315850, PMID:11315851, PMID:11916951, PMID:11942313, PMID:12442280, PMID:12627330, PMID:14517946, PMID:14517956, PMID:15277402, PMID:15305805, PMID:15841481, PMID:15918042, PMID:15928245, PMID:16963153, PMID:16965331, PMID:17573900, PMID:18271687, PMID:19790256, PMID:20132997, PMID:21604084, PMID:22493702, PMID:22611063, PMID:24097065, PMID:24518839, PMID:24728127, PMID:25015100, PMID:25741868, PMID:25850297, PMID:26467025, PMID:28492532 NCBI chr11:5,900,816...5,950,081
Ensembl chr11:5,900,820...5,950,081
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-Coenzyme A dehydrogenase ISO ClinVar Annotator: match by OMIM:609975
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4
ClinVar
OMIM
PMID:904979, PMID:11489939, PMID:14693719, PMID:19318379, PMID:21252247, PMID:22662265, PMID:23273570, PMID:25741868, PMID:27104957, PMID:28492532 NCBI chr 3:131,233,419...131,272,101
Ensembl chr 3:131,233,419...131,272,101
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency ClinVar PMID:8288049, PMID:15161766, PMID:25741868, PMID:27896077 NCBI chr 8:3,150,922...3,279,649
Ensembl chr 8:3,122,061...3,279,617
JBrowse link
familial hyperinsulinemic hypoglycemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO ClinVar Annotator: match by OMIM:609968 OMIM
ClinVar
PMID:8288049, PMID:15161766, PMID:25741868, PMID:27896077 NCBI chr 8:3,150,922...3,279,649
Ensembl chr 8:3,122,061...3,279,617
JBrowse link
familial hyperinsulinemic hypoglycemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glud1 glutamate dehydrogenase 1 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome
ClinVar Annotator: match by OMIM:606762
OMIM
ClinVar
PMID:9469993, PMID:9571255, PMID:9843361, PMID:10636977, PMID:10871207, PMID:11214910, PMID:18414213, PMID:18928469, PMID:19046187, PMID:23869231, PMID:25008049, PMID:25741868, PMID:26467025, PMID:26759084, PMID:27188453, PMID:28165182, PMID:28492532, PMID:30306091, PMID:30352420, PMID:30425915 NCBI chr14:34,310,727...34,345,033
Ensembl chr14:34,310,727...34,345,265
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr14:34,236,948...34,310,651
Ensembl chr14:34,237,033...34,310,493
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 (monocarboxylic acid transporters), member 1 ISO ClinVar Annotator: match by term: Exercise-induced hyperinsulinism
ClinVar Annotator: match by term: Exercise-induced hyperinsulinemic hypoglycemia
ClinVar Annotator: match by OMIM:610021
OMIM
ClinVar
PMID:11207177, PMID:17701893, PMID:18414213, PMID:19881260, PMID:25371203, PMID:25741868, PMID:25741869, PMID:26595136, PMID:28492532 NCBI chr 3:104,638,664...104,658,462
Ensembl chr 3:104,638,668...104,658,462
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, sub-family C (CFTR/MRP), member 8 IEA
ISO
OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021
ClinVar Annotator: match by term: Islet cell hyperplasia
ClinVar Annotator: match by term: Nesidioblastosis
MouseDO
ClinVar
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 NCBI chr 7:46,104,523...46,180,039
Ensembl chr 7:46,104,523...46,180,033
JBrowse link
G Gck glucokinase IEA OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 MouseDO NCBI chr11:5,900,816...5,950,081
Ensembl chr11:5,900,820...5,950,081
JBrowse link
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Islet cell hyperplasia
ClinVar Annotator: match by term: Nesidioblastosis
ClinVar PMID:7847376, PMID:8897013, PMID:8923010, PMID:9356020, PMID:9867219, PMID:10338089, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:14551916, PMID:14715863, PMID:14871556, PMID:15115830, PMID:15504982, PMID:15562009, PMID:15579781, PMID:15579791, PMID:15797964, PMID:15855351, PMID:15998776, PMID:16416420, PMID:16455067, PMID:16595597, PMID:16670688, PMID:16982483, PMID:17257281, PMID:17316607, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17673911, PMID:17823772, PMID:18250167, PMID:18290324, PMID:18414213, PMID:18596924, PMID:18758683, PMID:18767144, PMID:19214942, PMID:19233137, PMID:19254908, PMID:19357197, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20049716, PMID:20424228, PMID:20589481, PMID:20685672, PMID:21115269, PMID:21119644, PMID:21765448, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22311976, PMID:22385882, PMID:22471336, PMID:22512215, PMID:22704848, PMID:22958899, PMID:22992668, PMID:23275527, PMID:23345197, PMID:24434300, PMID:24442125, PMID:24698822, PMID:25115353, PMID:25637631, PMID:25639667, PMID:25741868, PMID:25871929, PMID:25972930, PMID:26467025, PMID:26545876, PMID:26740944, PMID:27065949, PMID:28492532, PMID:29681852 NCBI chr 7:46,097,123...46,100,952
Ensembl chr 7:46,093,953...46,100,764
JBrowse link
hyperinsulinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 susceptibility ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852, PMID:16416420, PMID:12199344 RGD:1625279, RGD:1598639 NCBI chr 7:46,104,523...46,180,039
Ensembl chr 7:46,104,523...46,180,033
JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 IMP RGD PMID:14742740 RGD:2325255 NCBI chr17:93,198,245...93,206,541
Ensembl chr17:93,199,017...93,206,537
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:16414018 RGD:1599145 NCBI chr16:23,146,536...23,157,968
Ensembl chr16:23,146,536...23,158,028
JBrowse link
G Adipor1 adiponectin receptor 1 ISO mRNA:decreased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr 1:134,415,378...134,433,351
Ensembl chr 1:134,415,378...134,433,351
JBrowse link
G Adipor2 adiponectin receptor 2 ISO mRNA:decreased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr 6:119,353,150...119,417,699
Ensembl chr 6:119,353,150...119,417,704
JBrowse link
G Adm adrenomedullin ISO associated with Obesity;protein:increased expression:plasma RGD PMID:15789277 RGD:1625301 NCBI chr 7:110,627,657...110,629,820
Ensembl chr 7:110,627,661...110,629,820
JBrowse link
G Adra1b adrenergic receptor, alpha 1b susceptibility IAGP RGD PMID:14581480 RGD:1625772 NCBI chr11:43,774,605...43,901,250
Ensembl chr11:43,774,606...43,901,210
JBrowse link
G Adrb3 adrenergic receptor, beta 3 IEP associated with Obesity;mRNA:decreased expression:epidydimis, white fat RGD PMID:11014217 RGD:2313165 NCBI chr 8:27,225,776...27,230,845
Ensembl chr 8:27,225,776...27,250,616
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO associated with obesity;DNA:polymorphism: :p.M235T RGD PMID:16713443 RGD:1601142 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO RGD PMID:16565309 RGD:1642975 NCBI chr13:30,336,356...30,382,867
Ensembl chr13:30,336,441...30,382,867
JBrowse link
G Brd2 bromodomain containing 2 IMP RGD PMID:19883376 RGD:9586446 NCBI chr17:34,112,019...34,122,814
Ensembl chr17:34,112,023...34,122,634
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO mRNA, protein:increased expression:aorta (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:29035695, PMID:17180354 RGD:8549642 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Cd163 CD163 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 6:124,304,636...124,330,529
Ensembl chr 6:124,304,656...124,330,527
JBrowse link
G Cd40 CD40 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Cd68 CD68 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr11:69,664,213...69,666,170
Ensembl chr11:69,664,213...69,666,153
JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C (P57) ISO DNA:loss of heterozygosity:pancreatic islet RGD PMID:11723059 RGD:2311334 NCBI chr 7:143,458,339...143,461,059
Ensembl chr 7:143,458,339...143,461,050
JBrowse link
G Col3a1 collagen, type III, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr 1:45,311,538...45,349,706
Ensembl chr 1:45,311,538...45,349,706
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO 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 1:161,037,580...161,070,668
Ensembl chr 1:161,040,601...161,070,658
JBrowse link
G Ddc dopa decarboxylase ISO protein:increased expression:pancreatic beta cell (human) RGD PMID:16403819 RGD:5129140 NCBI chr11:11,814,101...11,898,144
Ensembl chr11:11,814,101...11,898,144
JBrowse link
G Fanca Fanconi anemia, complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chr 8:123,266,294...123,318,651
Ensembl chr 8:123,268,300...123,318,576
JBrowse link
G Fancc Fanconi anemia, complementation group C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chr13:63,301,334...63,497,292
Ensembl chr13:63,285,043...63,497,278
JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
JBrowse link
G Foxa2 forkhead box A2 IAGP RGD PMID:11445544 RGD:2313243 NCBI chr 2:148,042,877...148,046,969
Ensembl chr 2:148,042,877...148,046,969
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:3019152 NCBI chr 2:62,474,530...62,483,653
Ensembl chr 2:62,474,530...62,483,650
JBrowse link
G Gck glucokinase ISO hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar PMID:9435328 RGD:1601294 NCBI chr11:5,900,816...5,950,081
Ensembl chr11:5,900,820...5,950,081
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chr 6:87,042,846...87,092,207
Ensembl chr 6:87,042,846...87,092,197
JBrowse link
G Gip gastric inhibitory polypeptide ISO protein:decreased expression:plasma (rat) RGD PMID:8059006 RGD:2312550 NCBI chr11:96,024,532...96,030,831
Ensembl chr11:96,024,545...96,030,831
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO
IGI
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 chr14:34,310,727...34,345,033
Ensembl chr14:34,310,727...34,345,265
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15184668, PMID:18560803 NCBI chr 9:108,339,080...108,340,342
Ensembl chr 9:108,338,903...108,340,343
JBrowse link
G Hadh hydroxyacyl-Coenzyme A dehydrogenase ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive ClinVar PMID:28492532 NCBI chr 3:131,233,419...131,272,101
Ensembl chr 3:131,233,419...131,272,101
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19171794 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Hnf4a hepatic nuclear factor 4, alpha ISO
IMP
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar Annotator: match by term: Hyperinsulinemia
ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency
ClinVar PMID:9267996, PMID:9313765, PMID:9449683, PMID:10983627, PMID:15793260, PMID:16883527, PMID:16917892, PMID:16946562, PMID:17573900, PMID:18811724, PMID:20164212, PMID:22662265, PMID:22802087, PMID:24033266, PMID:24285859, PMID:25741868, PMID:25819479, PMID:26467025, PMID:27245055, PMID:28458902, PMID:28492532, PMID:28693455, PMID:29998026, PMID:17407387 RGD:12904698 NCBI chr 2:163,506,811...163,572,907
Ensembl chr 2:163,506,808...163,572,910
JBrowse link
G Hp haptoglobin ISO protein:increased expression:serum RGD PMID:17598972 RGD:1626335 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
JBrowse link
G Il6 interleukin 6 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) RGD PMID:19375766 RGD:2307250 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: marker/mechanism CTD PMID:2991050, PMID:3511099, PMID:4019786, PMID:6382002, PMID:9667398 RGD:1625121 NCBI chr 7:142,678,656...142,679,726
Ensembl chr 7:142,678,656...142,743,381
JBrowse link
G Insr insulin receptor IMP
ISO
IAGP
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 chr 8:3,150,922...3,279,649
Ensembl chr 8:3,122,061...3,279,617
JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO protein:increased expression:liver (rat) RGD PMID:25385842 RGD:12903966 NCBI chr 9:54,862,658...54,912,534
Ensembl chr 9:54,863,789...54,912,530
JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734900 NCBI chr 1:82,233,105...82,291,439
Ensembl chr 1:82,233,112...82,235,933
Ensembl chr 1:82,233,112...82,235,933
JBrowse link
G Itgam integrin alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 7:128,062,640...128,118,491
Ensembl chr 7:128,062,640...128,118,491
JBrowse link
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive
protein:substitution: :p.H259R (human)
ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852, PMID:16416420, PMID:15998776 RGD:1625279, RGD:1625277 NCBI chr 7:46,097,123...46,100,952
Ensembl chr 7:46,093,953...46,100,764
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:9826672, PMID:22948215 RGD:12904911 NCBI chr 6:29,060,221...29,073,876
Ensembl chr 6:29,060,220...29,073,877
JBrowse link
G Lepr leptin receptor 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 4:101,717,137...101,815,352
Ensembl chr 4:101,717,404...101,815,352
JBrowse link
G Lipc lipase, hepatic ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)
RGD PMID:7047662, PMID:1592086, PMID:11095452 RGD:2308800, RGD:2308794, RGD:2308844 NCBI chr 9:70,798,128...70,952,221
Ensembl chr 9:70,798,128...70,952,226
JBrowse link
G Lta lymphotoxin A ISO associated with Coronary Arteriosclerosis RGD PMID:9726033 RGD:1625034 NCBI chr17:35,203,165...35,205,578
Ensembl chr17:35,203,165...35,205,351
JBrowse link
G Mc4r melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23251400 NCBI chr18:66,857,705...66,860,487
Ensembl chr18:66,857,704...66,860,506
JBrowse link
G Mgrn1 mahogunin, ring finger 1 IAGP RGD PMID:16638826 RGD:1641947 NCBI chr16:4,886,100...4,938,296
Ensembl chr16:4,886,249...4,938,296
JBrowse link
G Mrc1 mannose receptor, C type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 2:14,229,414...14,332,023
Ensembl chr 2:14,229,392...14,332,057
JBrowse link
G Mttp microsomal triglyceride transfer protein susceptibility ISO DNA:polymorphism:promoter:-493G>T RGD PMID:11849654 RGD:1625490 NCBI chr 3:138,089,855...138,143,418
Ensembl chr 3:138,089,854...138,144,968
JBrowse link
G Neil1 nei endonuclease VIII-like 1 (E. coli) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 NCBI chr 9:57,142,788...57,148,688
Ensembl chr 9:57,142,800...57,148,305
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO CTD Direct Evidence: therapeutic CTD PMID:19008412 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Npy5r neuropeptide Y receptor Y5 ISO RGD PMID:15187000 RGD:1625494 NCBI chr 8:66,679,965...66,688,094
Ensembl chr 8:66,679,965...66,688,128
JBrowse link
G Parl presenilin associated, rhomboid-like no_association ISO DNA:missense mutation:cds:p.L262V (human) RGD PMID:15729572, PMID:19185381 RGD:12880443, RGD:12880445 NCBI chr16:20,279,820...20,302,395
Ensembl chr16:20,279,818...20,302,387
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:150,587,445...150,643,878
Ensembl chr  X:150,588,229...150,643,878
JBrowse link
G Pklr pyruvate kinase liver and red blood cell IEP mRNA:increased expression:liver RGD PMID:14766002 RGD:1625581 NCBI chr 3:89,136,122...89,146,815
Ensembl chr 3:89,136,142...89,146,784
JBrowse link
G Prkcd protein kinase C, delta ISO RGD PMID:8826977 RGD:1625605 NCBI chr14:30,595,353...30,626,414
Ensembl chr14:30,595,354...30,626,210
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 chr 2:11,171,905...11,301,226
Ensembl chr 2:11,172,108...11,301,222
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:ovary RGD PMID:18421022 RGD:2292519 NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO CTD Direct Evidence: therapeutic CTD PMID:28899902 NCBI chr 2:167,930,750...167,979,385
Ensembl chr 2:167,932,057...167,979,385
JBrowse link
G Ptprf protein tyrosine phosphatase, receptor type, F ISO mouse model overexpressing human transgene RGD PMID:11309481 RGD:1642735 NCBI chr 4:118,208,213...118,291,405
Ensembl chr 4:118,208,213...118,291,405
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase, polypeptide 1 ISO protein:increased phosphorylation:liver, skeletal muscle RGD PMID:15692808 RGD:1643026 NCBI chr11:86,498,869...86,544,885
Ensembl chr11:86,498,871...86,544,805
JBrowse link
G Scd1 stearoyl-Coenzyme A desaturase 1 ISO associated with Obesity RGD PMID:16284748 RGD:1580005 NCBI chr19:44,394,450...44,407,709
Ensembl chr19:44,394,455...44,407,879
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar NCBI chr14:34,236,948...34,310,651
Ensembl chr14:34,237,033...34,310,493
JBrowse link
G Slc16a1 solute carrier family 16 (monocarboxylic acid transporters), member 1 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar PMID:25741868 NCBI chr 3:104,638,664...104,658,462
Ensembl chr 3:104,638,668...104,658,462
JBrowse link
G Slc27a1 solute carrier family 27 (fatty acid transporter), member 1 ISO RGD PMID:15281014 RGD:1642794 NCBI chr 8:71,568,728...71,587,307
Ensembl chr 8:71,568,882...71,587,302
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tsc22d3 TSC22 domain family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22556341 NCBI chr  X:140,539,528...140,600,522
Ensembl chr  X:140,539,528...140,600,659
JBrowse link
G Txnip thioredoxin interacting protein susceptibility IAGP DNA:nonsense mutation RGD PMID:15047687 RGD:1642753 NCBI chr 3:96,557,957...96,561,857
Ensembl chr 3:96,557,957...96,561,883
JBrowse link
hypoglycemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ISO RGD PMID:18776135 RGD:2301896 NCBI chr 7:46,104,523...46,180,039
Ensembl chr 7:46,104,523...46,180,033
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :1675G>A (human) RGD PMID:18328310 RGD:2313551 NCBI chr  X:21,484,624...21,488,833
Ensembl chr  X:21,484,544...21,489,164
JBrowse link
G Akt2 thymoma viral proto-oncogene 2 ISO RGD PMID:21979934 RGD:7248543 NCBI chr 7:27,591,552...27,640,826
Ensembl chr 7:27,591,552...27,640,826
JBrowse link
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15454078 NCBI chr 6:118,587,240...119,197,384
Ensembl chr 6:118,587,240...119,196,890
Ensembl chr 6:118,587,240...119,196,890
JBrowse link
G Creb1 cAMP responsive element binding protein 1 IMP RGD PMID:11557984 RGD:734816 NCBI chr 1:64,532,794...64,604,548
Ensembl chr 1:64,532,645...64,604,548
JBrowse link
G Crh corticotropin releasing hormone ISO RGD PMID:12606499 RGD:704397 NCBI chr 3:19,693,401...19,695,396
Ensembl chr 3:19,693,401...19,695,396
JBrowse link
G Cyp2c65 cytochrome P450, family 2, subfamily c, polypeptide 65 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphisms:cds:R144C, I359L (human) RGD PMID:15963101 RGD:2307154 NCBI chr19:39,061,006...39,093,948
Ensembl chr19:39,061,015...39,093,944
JBrowse link
G Cyp2c66 cytochrome P450, family 2, subfamily c, polypeptide 66 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphisms:cds:R144C, I359L (human) RGD PMID:15963101 RGD:2307154 NCBI chr19:39,113,898...39,186,756
Ensembl chr19:39,113,898...39,187,072
JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma RGD PMID:19211168 RGD:2313835 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G G6pc glucose-6-phosphatase, catalytic ISO 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 chr11:101,367,716...101,377,903
Ensembl chr11:101,367,561...101,377,903
JBrowse link
G Gck glucokinase ISO hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M RGD PMID:9435328 RGD:1601294 NCBI chr11:5,900,816...5,950,081
Ensembl chr11:5,900,820...5,950,081
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A RGD PMID:10636977 RGD:1601353 NCBI chr14:34,310,727...34,345,033
Ensembl chr14:34,310,727...34,345,265
JBrowse link
G Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) ISO mRNA, protein:increased expression:cerebellum (rat) RGD PMID:20056114 RGD:4107025 NCBI chr 6:135,713,221...136,173,615
Ensembl chr 6:135,713,233...136,173,511
JBrowse link
G Gsr glutathione reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr 8:33,653,238...33,698,162
Ensembl chr 8:33,652,523...33,698,163
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Hypoglycaemia ClinVar PMID:30311386 NCBI chr  X:102,284,638...102,505,381
Ensembl chr  X:102,284,639...102,505,359
JBrowse link
G Hnf1a HNF1 homeobox A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787664 NCBI chr 5:114,948,980...114,971,062
Ensembl chr 5:114,948,980...114,971,094
JBrowse link
G Hnf4a hepatic nuclear factor 4, alpha ISO
IMP
associated with Hyperinsulinemia;DNA:frameshift mutation, nonsense mutation, splice-site mutation RGD PMID:18268044, PMID:17407387 RGD:2301837, RGD:12904698 NCBI chr 2:163,506,811...163,572,907
Ensembl chr 2:163,506,808...163,572,910
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3185662 NCBI chr 7:142,650,768...142,666,816
Ensembl chr 7:142,650,766...142,666,816
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 IMP RGD PMID:11343120 RGD:737755 NCBI chr 7:101,822,632...101,838,226
Ensembl chr 7:101,822,632...101,838,229
JBrowse link
G Ins1 insulin I EXP CTD Direct Evidence: marker/mechanism CTD PMID:222008, PMID:3084764, PMID:6797439, PMID:18545258 NCBI chr19:52,264,297...52,265,015
Ensembl chr19:52,264,297...52,265,476
JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: marker/mechanism CTD PMID:48835, PMID:1324617, PMID:1646414, PMID:1890151, PMID:2554359, PMID:20620209, PMID:22940631 NCBI chr 7:142,678,656...142,679,726
Ensembl chr 7:142,678,656...142,743,381
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Hypoglycemia ClinVar PMID:25741868 NCBI chr17:71,003,332...71,126,856
Ensembl chr17:71,002,633...71,126,856
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 IMP RGD PMID:9988280 RGD:737788 NCBI chr13:101,680,761...101,768,217
Ensembl chr13:101,680,563...101,768,217
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 chr11:98,386,623...98,388,180
Ensembl chr11:98,386,450...98,388,181
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16777972 NCBI chr15:85,734,910...85,806,851
Ensembl chr15:85,734,983...85,802,819
JBrowse link
G Ppp1r3a protein phosphatase 1, regulatory subunit 3A ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:insertion/deletion:3' UTR (human) RGD PMID:9814479 RGD:1601469 NCBI chr 6:14,713,822...14,755,274
Ensembl chr 6:14,713,977...14,755,274
JBrowse link
G Prl prolactin ISO associated with Hypertension RGD PMID:16617309 RGD:1642557 NCBI chr13:27,057,570...27,065,204
Ensembl chr13:27,057,570...27,065,205
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Th tyrosine hydroxylase ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat) RGD PMID:16396986 RGD:5130724 NCBI chr 7:142,892,779...142,899,995
Ensembl chr 7:142,892,752...142,931,128
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8774068 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Ucp3 uncoupling protein 3 (mitochondrial, proton carrier) ISO RGD PMID:10935638 RGD:737762 NCBI chr 7:100,472,991...100,486,432
Ensembl chr 7:100,472,990...100,486,432
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, sub-family C (CFTR/MRP), member 8 ISO ClinVar Annotator: match by term: Leucine-induced hypoglycemia
ClinVar Annotator: match by OMIM:240800
OMIM
ClinVar
PMID:15356046, PMID:25741868 NCBI chr 7:46,104,523...46,180,039
Ensembl chr 7:46,104,523...46,180,033
JBrowse link
Hypoinsulinemic Hypoglycemia with Hemihypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt2 thymoma viral proto-oncogene 2 ISO ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and hemihypertrophy OMIM
ClinVar
PMID:21979934 NCBI chr 7:27,591,552...27,640,826
Ensembl chr 7:27,591,552...27,640,826
JBrowse link
Insulin Resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-Coenzyme A carboxylase alpha ISO RGD PMID:16485039 RGD:1625727 NCBI chr11:84,129,635...84,401,651
Ensembl chr11:84,129,672...84,401,651
JBrowse link
G Acacb acetyl-Coenzyme A carboxylase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22658938, PMID:16485039 RGD:1625727 NCBI chr 5:114,146,321...114,250,761
Ensembl chr 5:114,146,535...114,250,761
JBrowse link
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Acp1 acid phosphatase 1, soluble IMP associated with Obesity RGD PMID:17353188 RGD:2313180 NCBI chr12:30,893,326...30,911,619
Ensembl chr12:30,893,326...30,911,589
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:16788709 RGD:1625735 NCBI chr 8:46,471,037...46,536,051
Ensembl chr 8:46,471,037...46,536,051
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment ISO CTD Direct Evidence: therapeutic
associated with Hypertension
CTD PMID:18931039, PMID:21484566, PMID:16041833, PMID:23089228, PMID:21872431 RGD:1599150, RGD:8695951, RGD:8695928 NCBI chr16:23,146,536...23,157,968
Ensembl chr16:23,146,536...23,158,028
JBrowse link
G Adipor1 adiponectin receptor 1 resistance ISO associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C RGD PMID:17285539 RGD:1625762 NCBI chr 1:134,415,378...134,433,351
Ensembl chr 1:134,415,378...134,433,351
JBrowse link
G Adipor2 adiponectin receptor 2 treatment ISO RGD PMID:30225267, PMID:24797033 RGD:21406435, RGD:25824940 NCBI chr 6:119,353,150...119,417,699
Ensembl chr 6:119,353,150...119,417,704
JBrowse link
G Adora1 adenosine A1 receptor treatment ISO associated with Obesity RGD PMID:11703426, PMID:15220221 RGD:2313807, RGD:1625243 NCBI chr 1:134,199,215...134,235,457
Ensembl chr 1:134,199,223...134,235,431
JBrowse link
G Adra1b adrenergic receptor, alpha 1b susceptibility IAGP RGD PMID:14581480 RGD:1625772 NCBI chr11:43,774,605...43,901,250
Ensembl chr11:43,774,606...43,901,210
JBrowse link
G Adrb2 adrenergic receptor, beta 2 ISO DNA:polymorphism: :p.R16G
CTD Direct Evidence: marker/mechanism
CTD PMID:19034036, PMID:15699455, PMID:11510954 RGD:1601125, RGD:1598757 NCBI chr18:62,177,713...62,179,981
Ensembl chr18:62,177,816...62,179,959
JBrowse link
G Adrb3 adrenergic receptor, beta 3 no_association ISO DNA:missense mutation:cds:p.W64R rs4994 (human)
associated with Obesity;DNA:polymorphism: :p.W64R (human)
RGD PMID:10421225, PMID:10582543, PMID:17299491 RGD:1559326, RGD:5684421, RGD:2313158 NCBI chr 8:27,225,776...27,230,845
Ensembl chr 8:27,225,776...27,250,616
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:21,484,624...21,488,833
Ensembl chr  X:21,484,544...21,489,164
JBrowse link
G Ahr aryl-hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25734695 NCBI chr12:35,497,979...35,534,989
Ensembl chr12:35,497,974...35,535,038
JBrowse link
G Ahsg alpha-2-HS-glycoprotein susceptibility IAGP
ISO
protein:increased expression:plasma RGD PMID:17011519, PMID:16567827 RGD:1625793, RGD:1625794 NCBI chr16:22,892,015...22,899,451
Ensembl chr16:22,891,277...22,899,449
JBrowse link
G Akt2 thymoma viral proto-oncogene 2 no_association ISO DNA:SNPs RGD PMID:17327441 RGD:1601155 NCBI chr 7:27,591,552...27,640,826
Ensembl chr 7:27,591,552...27,640,826
JBrowse link
G Aldh2 aldehyde dehydrogenase 2, mitochondrial treatment ISO protein:altered expression, altered activity:liver (rat) RGD PMID:28688179 RGD:14981582 NCBI chr 5:121,566,027...121,593,824
Ensembl chr 5:121,566,027...121,593,824
JBrowse link
G Alox15 arachidonate 15-lipoxygenase IMP RGD PMID:19787041 RGD:5509625 NCBI chr11:70,344,147...70,390,538
Ensembl chr11:70,344,152...70,352,031
JBrowse link
G Ankrd26 ankyrin repeat domain 26 IMP RGD PMID:18162531 RGD:9681744 NCBI chr 6:118,501,300...118,562,280
Ensembl chr 6:118,501,308...118,562,226
JBrowse link
G Apln apelin ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chr  X:48,025,146...48,034,853
Ensembl chr  X:48,025,146...48,034,853
JBrowse link
G Apoa2 apolipoprotein A-II IMP RGD PMID:11246886 RGD:2313957 NCBI chr 1:171,221,564...171,226,379
Ensembl chr 1:171,225,054...171,226,379
JBrowse link
G Apoc1 apolipoprotein C-I ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11723061 RGD:2313951 NCBI chr 7:19,689,480...19,692,659
Ensembl chr 7:19,689,481...19,692,660
JBrowse link
G Apoc3 apolipoprotein C-III susceptibility
treatment
IAGP
ISO
RGD PMID:15734841, PMID:15007394 RGD:1601226, RGD:1580750 NCBI chr 9:46,233,050...46,235,636
Ensembl chr 9:46,232,933...46,235,636
JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism
associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG
CTD PMID:21444647, PMID:17332526, PMID:16793958 RGD:1601244, RGD:2306773 NCBI chr  X:98,148,757...98,323,218
Ensembl chr  X:98,148,769...98,323,215
JBrowse link
G Arg1 arginase, liver ISO protein:decreased activity:liver (rat) RGD PMID:20593143 RGD:4142796 NCBI chr10:24,915,207...24,927,470
Ensembl chr10:24,915,221...24,927,484
JBrowse link
G Atm ataxia telangiectasia mutated ISO protein:decreased expression:muscle: RGD PMID:18534819 RGD:8693659 NCBI chr 9:53,437,122...53,536,828
Ensembl chr 9:53,439,149...53,536,740
JBrowse link
G Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide ISO mRNA:increased expression:skeletal muscle RGD PMID:14576983 RGD:1601252 NCBI chr 1:172,271,709...172,298,064
Ensembl chr 1:172,271,709...172,298,064
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 chr19:6,941,861...6,951,905
Ensembl chr19:6,941,861...6,951,899
JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:17917325 RGD:2306776 NCBI chr 3:73,635,805...73,708,436
Ensembl chr 3:73,635,808...73,708,415
JBrowse link
G Bdkrb1 bradykinin receptor, beta 1 ISO RGD PMID:17618300, PMID:17988733 RGD:5129217, RGD:5129214 NCBI chr12:105,604,091...105,605,511
Ensembl chr12:105,603,085...105,605,428
JBrowse link
G Bscl2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) ISO RGD PMID:25934999 RGD:11085488 NCBI chr19:8,837,467...8,848,683
Ensembl chr19:8,837,467...8,848,683
JBrowse link
G C1ra complement component 1, r subcomponent A ISO protein:increased expression:adipocyte RGD PMID:17244723 RGD:1600551 NCBI chr 6:124,512,621...124,523,440
Ensembl chr 6:124,512,405...124,523,443
JBrowse link
G C1rb complement component 1, r subcomponent B ISO protein:increased expression:adipocyte RGD PMID:17244723 RGD:1600551 NCBI chr 6:124,570,430...124,581,044
Ensembl chr 6:124,570,294...124,581,171
JBrowse link
G C3 complement component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18615583 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G Capn10 calpain 10 ISO DNA:SNP:intron:rs3792267 (human) RGD PMID:11018080 RGD:7247736 NCBI chr 1:92,934,408...92,947,948
Ensembl chr 1:92,934,376...92,947,941
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22325453 NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:29748970 RGD:13782289 NCBI chr 8:46,617,291...46,639,698
Ensembl chr 8:46,617,291...46,639,689
JBrowse link
G Casp8 caspase 8 ISO RGD PMID:29748970 RGD:13782289 NCBI chr 1:58,795,233...58,847,503
Ensembl chr 1:58,795,374...58,847,503
JBrowse link
G Cat catalase ISO associated with Obesity RGD PMID:19188683 RGD:5130761 NCBI chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Cblb Casitas B-lineage lymphoma b IAGP RGD PMID:17601987 RGD:2314038 NCBI chr16:52,031,230...52,208,047
Ensembl chr16:52,031,225...52,208,048
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 susceptibility ISO
IMP
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 chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Cd163 CD163 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 6:124,304,636...124,330,529
Ensembl chr 6:124,304,656...124,330,527
JBrowse link
G Cd36 CD36 molecule ISO
IMP
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 5:17,781,690...17,888,959
Ensembl chr 5:17,781,690...17,888,801
JBrowse link
G Cd40 CD40 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Cd68 CD68 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr11:69,664,213...69,666,170
Ensembl chr11:69,664,213...69,666,153
JBrowse link
G Cnr1 cannabinoid receptor 1 (brain) ISO associated with Obesity RGD PMID:19553924 RGD:2314662 NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831
JBrowse link
G Cntf ciliary neurotrophic factor TAS possible therapeutic agent RGD PMID:16675997 RGD:1626122 NCBI chr19:12,763,528...12,765,632
Ensembl chr19:12,763,660...12,765,632
JBrowse link
G Coq2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr 5:100,654,723...100,674,288
Ensembl chr 5:100,654,723...100,675,140
JBrowse link
G Cpb2 carboxypeptidase B2 (plasma) ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma RGD PMID:11836301 RGD:2313645 NCBI chr14:75,242,287...75,283,555
Ensembl chr14:75,242,287...75,283,555
JBrowse link
G Cpe carboxypeptidase E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15358678 NCBI chr 8:64,592,542...64,693,109
Ensembl chr 8:64,592,542...64,693,054
JBrowse link
G Cst3 cystatin C ISO associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) RGD PMID:19765773 RGD:2314305 NCBI chr 2:148,871,722...148,875,512
Ensembl chr 2:148,871,722...148,875,692
JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr 7:127,712,676...127,718,188
Ensembl chr 7:127,712,736...127,718,192
JBrowse link
G Dio2 deiodinase, iodothyronine, type II ISO DNA:SNP: :rs225014, p.T92A (human) RGD PMID:11872697 RGD:2313698 NCBI chr12:90,724,552...90,739,038
Ensembl chr12:90,724,552...90,738,438
JBrowse link
G Drd1 dopamine receptor D1 ISO associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule RGD PMID:15798088 RGD:2302119 NCBI chr13:54,051,183...54,055,658
Ensembl chr13:54,051,183...54,055,705
JBrowse link
G Ech1 enoyl coenzyme A hydratase 1, peroxisomal treatment IDA RGD PMID:31961704 RGD:21408561 NCBI chr 7:28,825,338...28,832,239
Ensembl chr 7:28,825,217...28,832,247
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22238402 NCBI chr11:16,752,203...16,913,907
Ensembl chr11:16,752,203...16,918,158
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO DNA:polymorphism:K121Q
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
ClinVar PMID:10480624, PMID:11739459, PMID:14671192, PMID:14988267, PMID:15001634, PMID:15126519, PMID:16025115, PMID:16607460, PMID:16968801, PMID:10480624 RGD:1601043 NCBI chr10:24,637,914...24,712,159
Ensembl chr10:24,637,914...24,712,159
JBrowse link
G F7 coagulation factor VII severity ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:9187410 RGD:2312406 NCBI chr 8:13,025,506...13,035,809
Ensembl chr 8:13,026,034...13,035,809
JBrowse link
G Fabp2 fatty acid binding protein 2, intestinal no_association ISO DNA:SNP:CDS:p.A54T (human)
DNA:polymorphism:CDS:amino acid A54T, in healthy, moderately overweight subjects in Baton Rouge
DNA:polymorphism:CDS:p.A54T (human)
RGD PMID:7883976, PMID:16311100, PMID:17211557, PMID:14981227 RGD:1300314, RGD:1578456, RGD:1626407, RGD:1626400 NCBI chr 3:122,895,072...122,899,506
Ensembl chr 3:122,895,072...122,899,506
JBrowse link
G Fabp3 fatty acid binding protein 3, muscle and heart severity IAGP RGD PMID:16249436 RGD:1578459 NCBI chr 4:130,308,738...130,315,463
Ensembl chr 4:130,308,595...130,315,463
JBrowse link
G Fabp4 fatty acid binding protein 4, adipocyte ISO RGD PMID:17391165 RGD:1625407 NCBI chr 3:10,204,342...10,208,616
Ensembl chr 3:10,204,088...10,208,576
JBrowse link
G Fanca Fanconi anemia, complementation group A IMP RGD PMID:22482891 RGD:11046266 NCBI chr 8:123,266,294...123,318,651
Ensembl chr 8:123,268,300...123,318,576
JBrowse link
G Fancc Fanconi anemia, complementation group C IMP RGD PMID:22482891 RGD:11046266 NCBI chr13:63,301,334...63,497,292
Ensembl chr13:63,285,043...63,497,278
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) treatment ISO associated with hypothalamic disease RGD PMID:29522769 RGD:13792596 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Fgf15 fibroblast growth factor 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr 7:144,896,532...144,900,953
Ensembl chr 7:144,896,531...144,900,953
JBrowse link
G Fis1 fission, mitochondrial 1 ISO protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr 5:136,953,275...136,966,234
Ensembl chr 5:136,953,275...136,966,234
JBrowse link
G Foxc2 forkhead box C2 ISO DNA:polymorphism:5'ut:-512C>T RGD PMID:12453913 RGD:1601219 NCBI chr 8:121,116,171...121,118,895
Ensembl chr 8:121,116,171...121,118,895
JBrowse link
G Foxo1 forkhead box O1 ISO mRNA:increased expression:adipose tissue: RGD PMID:16041833 RGD:1599150 NCBI chr 3:52,268,337...52,350,109
Ensembl chr 3:52,268,336...52,353,221
JBrowse link
G Fxn frataxin ISO DNA:repeats:intron:GAA (human) RGD PMID:10969848 RGD:2307049 NCBI chr19:24,259,545...24,280,590
Ensembl chr19:24,261,453...24,280,605
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO associated with Obesity;protein:increased expression:pancreas RGD PMID:23015612 RGD:10449129 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Gck glucokinase ISO protein:increased expression:pancreatic islet RGD PMID:19039094 RGD:7488970 NCBI chr11:5,900,816...5,950,081
Ensembl chr11:5,900,820...5,950,081
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chr 6:87,042,846...87,092,207
Ensembl chr 6:87,042,846...87,092,197
JBrowse link
G Gh growth hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559284 NCBI chr11:106,300,261...106,303,703
Ensembl chr11:106,300,271...106,301,865
JBrowse link
G Gnas GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:17062894 NCBI chr 2:174,284,320...174,346,744
Ensembl chr 2:174,284,320...174,346,744
JBrowse link
G Gnb3 guanine nucleotide binding protein (G protein), beta 3 ISO DNA:polymorphism: :825C>T (human) RGD PMID:12624279 RGD:1580411 NCBI chr 6:124,834,240...124,840,275
Ensembl chr 6:124,834,240...124,840,275
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270708 NCBI chr11:54,902,854...54,910,387
Ensembl chr11:54,902,453...54,910,377
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 IDA RGD PMID:15994203 RGD:1625791 NCBI chr19:4,285,999...4,306,222
Ensembl chr19:4,286,001...4,306,222
JBrowse link
G Gsta4 glutathione S-transferase, alpha 4 ISO mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human) RGD PMID:20150287 RGD:5687771 NCBI chr 9:78,191,966...78,209,349
Ensembl chr 9:78,182,774...78,209,349
JBrowse link
G Gsta5 glutathione S-transferase alpha 5 ISO mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human) RGD PMID:20150287 RGD:5687771 NCBI chr 9:78,289,928...78,305,525
Ensembl chr 9:78,289,923...78,305,525
JBrowse link
G Gys1 glycogen synthase 1, muscle susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human) RGD PMID:9267990 RGD:2313176 NCBI chr 7:45,434,839...45,456,617
Ensembl chr 7:45,434,844...45,456,619
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:17350134 RGD:1601515 NCBI chr 7:30,942,368...30,944,029
Ensembl chr 7:30,942,368...30,944,032
JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr17:27,556,574...27,563,672
Ensembl chr11:120,762,794...120,764,419
Ensembl chr17:120,762,794...120,764,419
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:18375438, PMID:19171794, PMID:12941774 RGD:1601621 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Hnf1a HNF1 homeobox A ISO mRNA:decreased expression:adipocyte
ClinVar Annotator: match by term: Serum hdl cholesterol level, modifier of
ClinVar PMID:8945470, PMID:9112026, PMID:9287053, PMID:9604876, PMID:10333057, PMID:10588527, PMID:10634407, PMID:10852449, PMID:12627330, PMID:12675668, PMID:12788852, PMID:15031772, PMID:15761192, PMID:15928245, PMID:16963153, PMID:17033837, PMID:17192490, PMID:17407072, PMID:17425917, PMID:17440016, PMID:17573900, PMID:17937063, PMID:18332101, PMID:18498634, PMID:18811724, PMID:24728327, PMID:25741868, PMID:26467025, PMID:15094374 RGD:1601482 NCBI chr 5:114,948,980...114,971,062
Ensembl chr 5:114,948,980...114,971,094
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21786805 NCBI chr 1:193,221,640...193,264,045
Ensembl chr 1:193,221,634...193,264,075
JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO RGD PMID:18948349 RGD:10402862 NCBI chr 1:55,077,833...55,088,243
Ensembl chr 1:55,077,835...55,088,243
JBrowse link
G Htr2a 5-hydroxytryptamine (serotonin) receptor 2A ISO associated with Peripheral Vascular Diseases RGD PMID:17062970 RGD:1624367 NCBI chr14:74,640,874...74,706,859
Ensembl chr14:74,640,840...74,709,494
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO associated with Obesity;protein:increased secretion:plasma (human)
protein:increased expression:serum
RGD PMID:11782876, PMID:19394054 RGD:1625753, RGD:2313467 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17726072 NCBI chr17:24,877,844...24,882,011
Ensembl chr17:24,865,997...24,882,010
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22537059, PMID:17259371 RGD:1626479 NCBI chr 1:72,824,480...72,852,474
Ensembl chr 1:72,824,503...72,852,474
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:17237715 RGD:2313762 NCBI chr11:7,206,086...7,215,498
Ensembl chr11:7,206,086...7,213,923
JBrowse link
G Igfbp6 insulin-like growth factor binding protein 6 ISO human transgene overexpressed in mouse brain RGD PMID:15889232 RGD:2301717 NCBI chr15:102,144,186...102,149,512
Ensembl chr15:102,144,362...102,149,511
JBrowse link
G Igfbp7 insulin-like growth factor binding protein 7 ISO protein:increased expression:serum RGD PMID:16873698 RGD:1626516 NCBI chr 5:77,349,240...77,408,045
Ensembl chr 5:77,349,240...77,408,041
JBrowse link
G Ikbkb inhibitor of kappaB kinase beta treatment ISO
IMP
CTD Direct Evidence: marker/mechanism CTD PMID:29036520, PMID:19073766, PMID:11533494 RGD:7495768, RGD:10045961 NCBI chr 8:22,659,205...22,706,589
Ensembl chr 8:22,659,212...22,706,589
JBrowse link
G Il18 interleukin 18 treatment ISO
IMP
associated with Graves Disease RGD PMID:23257837, PMID:16732281 RGD:8655938, RGD:14695532 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il1b interleukin 1 beta treatment IEP
ISO
associated with Obesity;mRNA:increased expression:adipose tissue
associated with hypothalamic disease
RGD PMID:16865359, PMID:29522769 RGD:1626632, RGD:13792596 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
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 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Il6ra interleukin 6 receptor, alpha ISO protein:decreased expression:serum RGD PMID:14962155 RGD:1625431 NCBI chr 3:89,869,324...89,913,196
Ensembl chr 3:89,864,059...89,913,196
JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: therapeutic CTD PMID:20376352 NCBI chr 3:7,572,028...7,613,760
Ensembl chr 3:7,569,994...7,613,760
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 chr 7:101,822,632...101,838,226
Ensembl chr 7:101,822,632...101,838,229
JBrowse link
G Ins1 insulin I EXP CTD Direct Evidence: marker/mechanism CTD PMID:19586609 NCBI chr19:52,264,297...52,265,015
Ensembl chr19:52,264,297...52,265,476
JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: marker/mechanism CTD PMID:11522680, PMID:24648896, PMID:25796170, PMID:3322910 RGD:2311112 NCBI chr 7:142,678,656...142,679,726
Ensembl chr 7:142,678,656...142,743,381
JBrowse link
G Insr insulin receptor disease_progression
treatment
IMP
ISO
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 chr 8:3,150,922...3,279,649
Ensembl chr 8:3,122,061...3,279,617
JBrowse link
G Irs1 insulin receptor substrate 1 ISO DNA:polymorphism:exon:G972R
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD
ClinVar
PMID:1311924, PMID:7623569, PMID:8104271, PMID:8647950, PMID:10084586, PMID:10430617, PMID:10591678, PMID:10843189, PMID:12843189, PMID:14671192, PMID:14707024, PMID:15240653, PMID:19734900, PMID:7623569 RGD:1624973 NCBI chr 1:82,233,105...82,291,439
Ensembl chr 1:82,233,112...82,235,933
Ensembl chr 1:82,233,112...82,235,933
JBrowse link
G Irs2 insulin receptor substrate 2 ISO DNA:polymorphism:exon:G1057D
CTD Direct Evidence: marker/mechanism
CTD PMID:25808216, PMID:15811564 RGD:1625025 NCBI chr 8:10,984,681...11,008,929
Ensembl chr 8:10,984,681...11,008,458
JBrowse link
G Itgam integrin alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 7:128,062,640...128,118,491
Ensembl chr 7:128,062,640...128,118,491
JBrowse link
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032110 NCBI chr 7:46,097,123...46,100,952
Ensembl chr 7:46,093,953...46,100,764
JBrowse link
G Kcnmb1 potassium large conductance calcium-activated channel, subfamily M, beta member 1 ISO mRNA, protein:decreased expression:aorta, mesenteric artery RGD PMID:21425425 RGD:10412047 NCBI chr11:33,962,955...33,973,641
Ensembl chr11:33,963,013...33,973,641
JBrowse link
G Klf11 Kruppel-like factor 11 ISO RGD PMID:18505768 RGD:2311539 NCBI chr12:24,651,371...24,662,782
Ensembl chr12:24,651,274...24,662,789
JBrowse link
G Klf14 Kruppel-like factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29632379 NCBI chr 6:30,956,021...30,958,990
Ensembl chr 6:30,956,023...30,959,078
JBrowse link
G Klk1 kallikrein 1 ISO RGD PMID:17272402 RGD:1641794 NCBI chr 7:44,225,360...44,229,622
Ensembl chr 7:44,225,360...44,229,618
JBrowse link
G Lep leptin ISO 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 6:29,060,221...29,073,876
Ensembl chr 6:29,060,220...29,073,877
JBrowse link
G Lepr leptin receptor 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 4:101,717,137...101,815,352
Ensembl chr 4:101,717,404...101,815,352
JBrowse link
G Lipc lipase, hepatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:15504970 NCBI chr 9:70,798,128...70,952,221
Ensembl chr 9:70,798,128...70,952,226
JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: Insulin resistance syndrome, type A ClinVar PMID:15919811, PMID:16478798, PMID:20848652, PMID:23785128, PMID:24033266, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Lpin1 lipin 1 ISO RGD PMID:17563064 RGD:1641822 NCBI chr12:16,535,669...16,653,903
Ensembl chr12:16,535,669...16,646,966
JBrowse link
G Lpl lipoprotein lipase IAGP RGD PMID:18952837 RGD:2313300 NCBI chr 8:68,880,555...68,906,932
Ensembl chr 8:68,880,491...68,907,448
JBrowse link
G Lta lymphotoxin A no_association ISO DNA:polymorphism RGD PMID:9245742 RGD:1625035 NCBI chr17:35,203,165...35,205,578
Ensembl chr17:35,203,165...35,205,351
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 treatment ISO associated with polycystic ovary syndrome RGD PMID:23349861 RGD:13800789 NCBI chr 7:126,759,626...126,765,816
Ensembl chr 7:126,759,601...126,765,819
JBrowse link
G Mc4r melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18454146 NCBI chr18:66,857,705...66,860,487
Ensembl chr18:66,857,704...66,860,506
JBrowse link
G Metrnl meteorin, glial cell differentiation regulator-like ISO CTD Direct Evidence: therapeutic CTD PMID:30213948 NCBI chr11:121,702,427...121,717,389
Ensembl chr11:121,701,544...121,716,306
JBrowse link
G Mfn2 mitofusin 2 treatment ISO RGD PMID:24715199 RGD:13204838 NCBI chr 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) ISO protein:increased expression:plasma RGD PMID:12552367 RGD:1641955 NCBI chr10:75,859,353...75,860,277
Ensembl chr10:75,859,353...75,860,240
JBrowse link
G Mir125a microRNA 125a IMP RGD PMID:31988048 RGD:21403676 NCBI chr17:17,830,812...17,830,879
Ensembl chr17:17,830,812...17,830,879
JBrowse link
G Mir155 microRNA 155 ISO
IMP
miRNA:increased expression:serum RGD PMID:29479888, PMID:27711113 RGD:24922220, RGD:25671464 NCBI chr16:84,714,140...84,714,204
Ensembl chr16:84,714,140...84,714,204
JBrowse link
G Mrc1 mannose receptor, C type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 2:14,229,414...14,332,023
Ensembl chr 2:14,229,392...14,332,057
JBrowse link
G n-TUtca2 nuclear encoded tRNA selenocysteine 2 (anticodon TCA) EXP CTD Direct Evidence: marker/mechanism CTD PMID:28228267 NCBI chr 7:19,301,244...19,301,329 JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO associated with Polycystic Ovary Syndrome;protein:increased expression:serum RGD PMID:17582143 RGD:1642341 NCBI chr12:32,820,335...32,853,369
Ensembl chr12:32,819,545...32,853,349
JBrowse link
G Neil1 nei endonuclease VIII-like 1 (E. coli) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr 9:57,142,788...57,148,688
Ensembl chr 9:57,142,800...57,148,305
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO associated with obesity; protein:decreased expression:hepatocyte: RGD PMID:32102936 RGD:21201281 NCBI chr 2:75,675,513...75,704,663
Ensembl chr 2:75,675,513...75,704,641
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO
IMP
mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat) RGD PMID:22023455, PMID:21846719 RGD:5509041, RGD:5509075 NCBI chr11:78,920,787...78,960,226
Ensembl chr11:78,920,787...78,960,254
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell treatment ISO protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:11457755, PMID:12716763, PMID:12947532, PMID:19008412, PMID:18298918, PMID:28946194 RGD:2292098, RGD:13450950 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Nppb natriuretic peptide type B ISO associated with Obesity and Hypertension;protein:decreased expression:serum RGD PMID:17392814 RGD:1642192 NCBI chr 4:147,985,786...147,987,205
Ensembl chr 4:147,985,788...147,987,205
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 susceptibility IAGP RGD PMID:16557297 RGD:1625076 NCBI chr10:89,454,234...89,533,645
Ensembl chr10:89,454,234...89,533,585
JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chr15:101,253,902...101,274,795
Ensembl chr15:101,254,269...101,274,795
JBrowse link
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chr 4:48,045,078...48,086,447
Ensembl chr 4:48,045,153...48,086,447
JBrowse link
G Parl presenilin associated, rhomboid-like ISO mRNA:decreased expression:gastrocnemius (rat) RGD PMID:19859837 RGD:12880442 NCBI chr16:20,279,820...20,302,395
Ensembl chr16:20,279,818...20,302,387
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 IEP
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:pancreatic islet (mouse)
protein:increased expression:pancreatic duct (rat)
RGD PMID:18288891, PMID:16046294 RGD:2311222, RGD:2311223 NCBI chr 5:147,270,097...147,275,848
Ensembl chr 5:147,269,959...147,275,848
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 IAGP
ISO
CTD Direct Evidence: marker/mechanism
associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta
CTD PMID:14714311, PMID:17283057, PMID:16332940, PMID:10426374 RGD:1625211, RGD:1625212, RGD:1625262 NCBI chr13:101,680,761...101,768,217
Ensembl chr13:101,680,563...101,768,217
JBrowse link
G Pklr pyruvate kinase liver and red blood cell IEP mRNA, protein:decreased expression:liver RGD PMID:12958186 RGD:1625583 NCBI chr 3:89,136,122...89,146,815
Ensembl chr 3:89,136,142...89,146,784
JBrowse link
G Pla2g1b phospholipase A2, group IB, pancreas susceptibility IMP RGD PMID:12376327 RGD:1302550 NCBI chr 5:115,466,142...115,474,722
Ensembl chr 5:115,466,262...115,474,722
JBrowse link
G Plac8 placenta-specific 8 ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr 5:100,551,589...100,572,253
Ensembl chr 5:100,553,725...100,572,245
JBrowse link
G Plekhs1 pleckstrin homology domain containing, family S member 1 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr19:56,457,275...56,486,729
Ensembl chr19:56,461,640...56,486,752
JBrowse link
G Plin2 perilipin 2 IDA associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 4:86,626,910...86,670,217
Ensembl chr 4:86,648,386...86,670,060
JBrowse link
G Pltp phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr 2:164,839,518...164,857,708
Ensembl chr 2:164,839,518...164,857,711
JBrowse link
G Pmch pro-melanin-concentrating hormone ISO RGD PMID:16002548 RGD:1642484 NCBI chr10:88,091,072...88,092,374
Ensembl chr10:88,091,072...88,092,375
JBrowse link
G Pon1 paraoxonase 1 ISO DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001) RGD PMID:11788650 RGD:1642617 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha IDA
ISO
CTD Direct Evidence: therapeutic CTD PMID:16168052, PMID:21324916, PMID:19322024 RGD:5683642 NCBI chr15:85,734,910...85,806,851
Ensembl chr15:85,734,983...85,802,819
JBrowse link
G Ppard peroxisome proliferator activator receptor delta IDA associated with Diabetes Mellitus, Non-Insulin-Dependent
associated with Obesity
RGD PMID:19818749, PMID:14676330 RGD:2313780, RGD:2324897 NCBI chr17:28,232,754...28,301,469
Ensembl chr17:28,232,700...28,301,474
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO DNA:nonsense mutation
CTD Direct Evidence: therapeutic
CTD PMID:16168052, PMID:21354099, PMID:21484566, PMID:12118251 RGD:1601446 NCBI chr 6:115,360,879...115,490,404
Ensembl chr 6:115,360,951...115,490,399
JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha 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 5:51,454,249...52,115,853
Ensembl chr 5:51,454,250...51,567,726
JBrowse link
G Ppargc1b peroxisome proliferative activated receptor, gamma, coactivator 1 beta ISO RGD PMID:16896940 RGD:1642499 NCBI chr18:61,291,445...61,400,756
Ensembl chr18:61,298,136...61,400,431
JBrowse link
G Ppp1r3a protein phosphatase 1, regulatory subunit 3A ISO DNA:polymorphism:exon:p.D905Y (human)
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
DNA:nonsense mutation
ClinVar PMID:7581368, PMID:30311386, PMID:7581368, PMID:12118251 RGD:1601468, RGD:1601446 NCBI chr 6:14,713,822...14,755,274
Ensembl chr 6:14,713,977...14,755,274
JBrowse link
G Prdx3 peroxiredoxin 3 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr19:60,864,066...60,874,538
Ensembl chr19:60,864,051...60,874,556
JBrowse link
G Prkaa1 protein kinase, AMP-activated, alpha 1 catalytic subunit ISO associated with Obesity
CTD Direct Evidence: marker/mechanism
CTD PMID:19934007, PMID:22231922 RGD:6484545 NCBI chr15:5,143,861...5,181,899
Ensembl chr15:5,143,861...5,181,899
JBrowse link
G Prkaa2 protein kinase, AMP-activated, alpha 2 catalytic subunit susceptibility ISO DNA:SNPs
CTD Direct Evidence: marker/mechanism
CTD PMID:19934007, PMID:16567511 RGD:1625266 NCBI chr 4:105,029,649...105,109,898
Ensembl chr 4:105,029,874...105,109,890
JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr11:109,649,023...109,669,663
Ensembl chr11:109,649,405...109,669,656
JBrowse link
G Prkcb protein kinase C, beta ISO RGD PMID:12665248 RGD:1625515 NCBI chr 7:122,289,104...122,634,402
Ensembl chr 7:122,288,751...122,634,402
JBrowse link
G Prkcd protein kinase C, delta ISO
IMP
protein:altered localization:nucleus
associated with Obesity;protein:increased activity:adipocyte
RGD PMID:12217885, PMID:15507533 RGD:729667, RGD:1642527 NCBI chr14:30,595,353...30,626,414
Ensembl chr14:30,595,354...30,626,210
JBrowse link
G Prkcq protein kinase C, theta ISO associated with Obesity;protein:decreased expression:skeletal muscle
protein:altered localization:skeletal muscle
RGD PMID:10923637, PMID:9000691 RGD:1625603, RGD:1625604 NCBI chr 2:11,171,905...11,301,226
Ensembl chr 2:11,172,108...11,301,222
JBrowse link
G Prkcz protein kinase C, zeta ISO RGD PMID:12882908 RGD:1642650 NCBI chr 4:155,260,118...155,361,428
Ensembl chr 4:155,260,129...155,361,361
JBrowse link
G Prl prolactin ISO associated with Hyperprolactinemia RGD PMID:3888755 RGD:1642560 NCBI chr13:27,057,570...27,065,204
Ensembl chr13:27,057,570...27,065,205
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression, decreased acetylation:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:18303120, PMID:18385463 RGD:2292521 NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Ptgds prostaglandin D2 synthase (brain) susceptibility IAGP RGD PMID:15970590 RGD:1642581 NCBI chr 2:25,466,709...25,470,110
Ensembl chr 2:25,466,709...25,470,046
JBrowse link
G Ptk2b PTK2 protein tyrosine kinase 2 beta IAGP associated with Obesity RGD PMID:16039993 RGD:1642605 NCBI chr14:66,153,257...66,281,100
Ensembl chr14:66,153,257...66,281,052
JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO DNA:insertion:3'utr:1484insG
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD
ClinVar
PMID:10744717, PMID:11833006, PMID:11833006 RGD:1625240 NCBI chr 2:167,930,750...167,979,385
Ensembl chr 2:167,932,057...167,979,385
JBrowse link
G Ptprf protein tyrosine phosphatase, receptor type, F ISO mouse model overexpressing human transgene RGD PMID:11309481, PMID:9218523 RGD:1642735, RGD:1642733 NCBI chr 4:118,208,213...118,291,405
Ensembl chr 4:118,208,213...118,291,405
JBrowse link
G Pyy peptide YY ISO protein:decreased expression RGD PMID:17045646 RGD:1625281 NCBI chr11:102,106,676...102,107,832
Ensembl chr11:102,106,676...102,107,832
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO mRNA:decreased expression:adipose tissue RGD PMID:23315497 RGD:8547988 NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) IEP
ISO
protein:altered localization:soleus RGD PMID:18198644, PMID:18073321 RGD:2298857, RGD:2298860 NCBI chr19:5,637,442...5,648,134
Ensembl chr19:5,637,483...5,648,130
JBrowse link
G Retn resistin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16493877, PMID:18789551 RGD:2313499 NCBI chr 8:3,655,770...3,659,818
Ensembl chr 8:3,655,770...3,660,110
JBrowse link
G Rrad Ras-related associated with diabetes ISO RGD PMID:16537411 RGD:2311703 NCBI chr 8:104,628,070...104,631,350
Ensembl chr 8:104,628,070...104,631,327
JBrowse link
G Scd1 stearoyl-Coenzyme A desaturase 1 EXP CTD Direct Evidence: therapeutic CTD PMID:21661758 NCBI chr19:44,394,450...44,407,709
Ensembl chr19:44,394,455...44,407,879
JBrowse link
G Selenop selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:14714311 NCBI chr15:3,270,767...3,280,510
Ensembl chr15:3,268,547...3,280,508
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 treatment ISO mRNA:increased expression:white adipose tissue (rat) RGD PMID:19776253, PMID:26188590 RGD:8547949, RGD:11073726 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 treatment ISO associated with Hypertension
human protein in a rat model
RGD PMID:19073347, PMID:22714715, PMID:24288442 RGD:2312339, RGD:8655563, RGD:8642993 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Shc1 src homology 2 domain-containing transforming protein C1 ISO mRNA:increased expression:adipose tissue RGD PMID:17986714 RGD:1643171 NCBI chr 3:89,418,551...89,430,029
Ensembl chr 3:89,418,443...89,430,027
JBrowse link
G Sirt1 sirtuin 1 treatment ISO associated with Obesity
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:20068143, PMID:21321189, PMID:24442997, PMID:25849131, PMID:26026874, PMID:19996381 RGD:9585759 NCBI chr10:63,319,005...63,339,035
Ensembl chr10:63,319,005...63,381,704
JBrowse link
G Sirt4 sirtuin 4 ISO RGD PMID:20651844 RGD:9586052 NCBI chr 5:115,478,006...115,490,264
Ensembl chr 5:115,478,010...115,484,725
JBrowse link
G Sis sucrase isomaltase (alpha-glucosidase) ISO associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine RGD PMID:9878708 RGD:1625544 NCBI chr 3:72,888,557...72,967,863
Ensembl chr 3:72,888,557...72,967,863
JBrowse link
G Slc27a1 solute carrier family 27 (fatty acid transporter), member 1 ISO protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet RGD PMID:17400720 RGD:1642795 NCBI chr 8:71,568,728...71,587,307
Ensembl chr 8:71,568,882...71,587,302
JBrowse link
G Slc27a4 solute carrier family 27 (fatty acid transporter), member 4 ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:15168018 RGD:1625638 NCBI chr 2:29,802,634...29,817,522
Ensembl chr 2:29,802,634...29,817,522
JBrowse link
G Slc2a3 solute carrier family 2 (facilitated glucose transporter), member 3 ISO RGD PMID:11436180 RGD:1642802 NCBI chr 6:122,727,809...122,802,363
Ensembl chr 6:122,727,809...122,801,640
JBrowse link
G Slc2a4 solute carrier family 2 (facilitated glucose transporter), member 4 ISO associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle
CTD Direct Evidence: therapeutic
CTD PMID:11947963, PMID:18778861 RGD:2313624 NCBI chr11:69,942,286...69,948,216
Ensembl chr11:69,942,539...69,948,188
JBrowse link
G Socs1 suppressor of cytokine signaling 1 IMP associated with Diabetes Mellitus RGD PMID:15240880 RGD:1625677 NCBI chr16:10,783,808...10,785,536
Ensembl chr16:10,782,240...10,785,536
JBrowse link
G Socs3 suppressor of cytokine signaling 3 susceptibility IMP
IAGP
associated with Diabetes Mellitus
associated with Obesity
RGD PMID:15240880, PMID:17295835 RGD:1625677, RGD:2313789 NCBI chr11:117,966,079...117,970,336
Ensembl chr11:117,966,079...117,970,047
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: therapeutic CTD PMID:22829583 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Sod3 superoxide dismutase 3, extracellular ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma RGD PMID:15171689 RGD:1625698 NCBI chr 5:52,363,804...52,369,738
Ensembl chr 5:52,363,791...52,371,418
JBrowse link
G Sorbs1 sorbin and SH3 domain containing 1 susceptibility IAGP RGD PMID:17351624 RGD:1642731 NCBI chr19:40,292,040...40,513,955
Ensembl chr19:40,294,753...40,513,779
JBrowse link
G Sox6 SRY (sex determining region Y)-box 6 IDA RGD PMID:16148004 RGD:1581307 NCBI chr 7:115,470,872...116,040,776
Ensembl chr 7:115,470,872...116,038,796
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 susceptibility 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 chr11:60,199,084...60,224,186
Ensembl chr11:60,199,089...60,222,581
JBrowse link
G Srebf2 sterol regulatory element binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20699619 NCBI chr15:82,147,269...82,205,379
Ensembl chr15:82,147,181...82,205,379
JBrowse link
G Stk11 serine/threonine kinase 11 ISO associated with obesity;protein:decreased expression:gastrocnemius RGD PMID:16352671 RGD:1601389 NCBI chr10:80,115,767...80,130,679
Ensembl chr10:80,115,803...80,130,682
JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: therapeutic CTD PMID:24497646
G Syn1 synapsin I ISO RGD PMID:29566703 RGD:13542091 NCBI chr  X:20,860,511...20,920,918
Ensembl chr  X:20,860,511...20,921,004
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Insulin resistance ClinVar NCBI chr14:101,442,360...101,609,281
Ensembl chr14:101,442,360...101,609,191
JBrowse link
G Tcf7l2 transcription factor 7 like 2, T cell specific, HMG box ISO DNA:SNP (human) RGD PMID:19509102 RGD:2312433 NCBI chr19:55,741,797...55,933,659
Ensembl chr19:55,741,820...55,933,654
JBrowse link
G Tfap2b transcription factor AP-2 beta ISO RGD PMID:16373417 RGD:1601544 NCBI chr 1:19,208,908...19,238,845
Ensembl chr 1:19,208,914...19,238,576
JBrowse link
G Thbd thrombomodulin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11453033 RGD:2312460 NCBI chr 2:148,404,471...148,408,188
Ensembl chr 2:148,404,466...148,408,188
JBrowse link
G Tlr4 toll-like receptor 4 severity IAGP
ISO
associated with Obesity
protein:increased expression:skeletal muscle
RGD PMID:19675137, PMID:17426960, PMID:18633101 RGD:2312483, RGD:1620681, RGD:2312489 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tnf tumor necrosis factor treatment ISO associated with obesity
CTD Direct Evidence: marker/mechanism
associated with Obesity
CTD PMID:16493877, PMID:20943792, PMID:14764603, PMID:9832430, PMID:25016878 RGD:1580214, RGD:14995428, RGD:10450578 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) ISO associated with obesity;protein:increased expression:serum RGD PMID:15936463 RGD:1620889 NCBI chr15:54,250,619...54,278,484
Ensembl chr15:54,250,619...54,278,484
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression RGD PMID:11882518 RGD:1624180 NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
JBrowse link
G Trf transferrin ISO protein:increased expression:plasma RGD PMID:17350134 RGD:1601515 NCBI chr 9:103,208,876...103,230,286
Ensembl chr 9:103,204,001...103,230,444
JBrowse link
G Trib3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20461355 NCBI chr 2:152,337,425...152,344,060
Ensembl chr 2:152,337,422...152,344,032
JBrowse link
G Tsc1 TSC complex subunit 1 IAGP RGD PMID:15380067 RGD:1624197 NCBI chr 2:28,640,993...28,691,172
Ensembl chr 2:28,641,228...28,691,167
JBrowse link
G Ucp1 uncoupling protein 1 (mitochondrial, proton carrier) ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human) RGD PMID:16338218 RGD:1624979 NCBI chr 8:83,290,348...83,298,456
Ensembl chr 8:83,290,352...83,298,452
JBrowse link
G Ucp2 uncoupling protein 2 (mitochondrial, proton carrier) ISO DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) RGD PMID:17870627 RGD:2313512 NCBI chr 7:100,493,337...100,499,629
Ensembl chr 7:100,493,337...100,502,020
JBrowse link
G Ucp3 uncoupling protein 3 (mitochondrial, proton carrier) ISO DNA:polymorphism:promoter:-55C>T (human) RGD PMID:17870627, PMID:17571165 RGD:2313512, RGD:2313515 NCBI chr 7:100,472,991...100,486,432
Ensembl chr 7:100,472,990...100,486,432
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO RGD PMID:11882338 RGD:1580351 NCBI chr 3:116,110,020...116,129,688
Ensembl chr 3:116,109,949...116,129,688
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor IMP RGD PMID:25801026 RGD:14402022 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
JBrowse link
G Vwf Von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16631442 RGD:1625711 NCBI chr 6:125,552,948...125,686,679
Ensembl chr 6:125,546,774...125,686,679
JBrowse link
G Xbp1 X-box binding protein 1 IMP
ISO
CTD Direct Evidence: therapeutic CTD PMID:27325692, PMID:15486293 RGD:2326004 NCBI chr11:5,520,641...5,525,993
Ensembl chr11:5,520,659...5,525,893
JBrowse link
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO ClinVar Annotator: match by term: IRAN, TYPE A
ClinVar Annotator: match by OMIM:610549
OMIM
ClinVar
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 chr 8:3,150,922...3,279,649
Ensembl chr 8:3,122,061...3,279,617
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, sub-family A (ABC1), member 1 susceptibility ISO DNA:SNP:exon:p.R230C (rs9282541) (human) RGD PMID:17287470 RGD:1601092 NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
JBrowse link
G Acadvl acyl-Coenzyme A dehydrogenase, very long chain treatment ISO RGD PMID:25191539 RGD:10047118 NCBI chr11:70,010,183...70,015,428
Ensembl chr11:70,010,183...70,015,411
JBrowse link
G Acat2 acetyl-Coenzyme A acetyltransferase 2 susceptibility ISO DNA:polymorphism RGD PMID:14557872 RGD:1581921 NCBI chr17:12,943,042...12,960,725
Ensembl chr17:12,942,890...12,960,747
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO
IMP
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human)
CTD Direct Evidence: marker/mechanism
associated with vascular diseases; protein:decreased expression:plasma
protein:decreased expression:serum
CTD 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 chr16:23,146,536...23,157,968
Ensembl chr16:23,146,536...23,158,028
JBrowse link
G Adrb2 adrenergic receptor, beta 2 susceptibility ISO DNA:polymorphisms: :p.R16G, p.Q27E RGD
GAD
PMID:14557466, PMID:15118671 RGD:1601127, RGD:1331525 NCBI chr18:62,177,713...62,179,981
Ensembl chr18:62,177,816...62,179,959
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO mRNA, protein:increased expression:adipose tissue RGD PMID:17260464 RGD:1601134 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Agtr1a angiotensin II receptor, type 1a susceptibility ISO DNA:snp:3' utr:c.5186A>C RGD PMID:17211857 RGD:1601146 NCBI chr13:30,336,356...30,382,867
Ensembl chr13:30,336,441...30,382,867
JBrowse link
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring IMP RGD PMID:23569246 RGD:14349049 NCBI chr 1:87,124,954...87,128,728
Ensembl chr 1:87,124,973...87,127,912
JBrowse link
G Aldoa aldolase A, fructose-bisphosphate ISO mRNA:increased expression:aorta RGD PMID:21890532 RGD:13673877 NCBI chr 7:126,795,234...126,800,994
Ensembl chr 7:126,795,234...126,800,751
Ensembl chr 7:126,795,234...126,800,751
JBrowse link
G Alpl alkaline phosphatase, liver/bone/kidney susceptibility ISO protein:increased expression:serum RGD PMID:16249437 RGD:1601174 NCBI chr 4:137,741,731...137,796,384
Ensembl chr 4:137,741,733...137,796,384
JBrowse link
G Apoa1 apolipoprotein A-I IEP
ISO
protein:decreased expression
DNA: polymorphism: :G2, G3 and G5
RGD PMID:17217166, PMID:21410987 RGD:1601183, RGD:5508220 NCBI chr 9:46,228,630...46,230,469
Ensembl chr 9:46,228,580...46,230,466
JBrowse link
G Apoa2 apolipoprotein A-II ISO protein:decreased expression:serum RGD PMID:19817643 RGD:2313955 NCBI chr 1:171,221,564...171,226,379
Ensembl chr 1:171,225,054...171,226,379
JBrowse link
G Apoa5 apolipoprotein A-V susceptibility ISO DNA:polymorphism: :p.S19W (human) RGD PMID:18789138 RGD:2313315 NCBI chr 9:46,268,608...46,271,921
Ensembl chr 9:46,268,633...46,271,919
JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:plasma RGD PMID:16828905 RGD:1601198 NCBI chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
G Apoc3 apolipoprotein C-III susceptibility IEP
ISO
protein:increased expression:serum
DNA:polymorphism:promoter:-482C>T, -455T>C
RGD PMID:16298371, PMID:17416293 RGD:2306766, RGD:1601223 NCBI chr 9:46,233,050...46,235,636
Ensembl chr 9:46,232,933...46,235,636
JBrowse link
G Apom apolipoprotein M ISO protein:decreased expression:plasma RGD PMID:19539616 RGD:2314236 NCBI chr17:35,128,997...35,131,801
Ensembl chr17:35,128,997...35,132,050
JBrowse link
G Atm ataxia telangiectasia mutated IDA RGD PMID:17084711 RGD:1601248 NCBI chr 9:53,437,122...53,536,828
Ensembl chr 9:53,439,149...53,536,740
JBrowse link
G Atp12a ATPase, H+/K+ transporting, nongastric, alpha polypeptide ISO RGD PMID:23320804 RGD:13838660 NCBI chr14:56,364,669...56,388,551
Ensembl chr14:56,365,068...56,388,550
JBrowse link
G Bche butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15907830 RGD:1601317 NCBI chr 3:73,635,805...73,708,436
Ensembl chr 3:73,635,808...73,708,415
JBrowse link
G Bdnf brain derived neurotrophic factor ISO RGD PMID:11935372 RGD:1580935 NCBI chr 2:109,674,700...109,727,043
Ensembl chr 2:109,674,700...109,727,007
JBrowse link
G Bglap bone gamma carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:21760737 RGD:6483594 NCBI chr 3:88,383,495...88,384,466
Ensembl chr 3:88,383,501...88,384,464
JBrowse link
G C3 complement component 3 ISO RGD PMID:16488421 RGD:2314030 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G Capn10 calpain 10 ISO DNA:polymorphism RGD PMID:16546286 RGD:1625050 NCBI chr 1:92,934,408...92,947,948
Ensembl chr 1:92,934,376...92,947,941
JBrowse link
G Cck cholecystokinin ISO RGD PMID:17443025 RGD:1625798 NCBI chr 9:121,489,824...121,495,694
Ensembl chr 9:121,489,824...121,495,694
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16188961, PMID:18486454 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccl5 chemokine (C-C motif) ligand 5 ISO protein:increased secretion:plasma (rat) RGD PMID:19905967 RGD:4889977 NCBI chr11:83,525,778...83,530,518
Ensembl chr11:83,525,778...83,530,518
JBrowse link
G Cd36 CD36 molecule ISO DNA:SNPs: :multiple (human) RGD PMID:9916795, PMID:18305138 RGD:619666, RGD:2307208 NCBI chr 5:17,781,690...17,888,959
Ensembl chr 5:17,781,690...17,888,801
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:16423632, PMID:20006362 RGD:2314214, RGD:5490591 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Cela2a chymotrypsin-like elastase family, member 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31358993 NCBI chr 4:141,814,954...141,826,005
Ensembl chr 4:141,814,962...141,826,160
JBrowse link
G Chek2 checkpoint kinase 2 ISO mRNA:increased expression:heart left ventricle (rat) RGD PMID:25129990 RGD:10400905 NCBI chr 5:110,839,800...110,874,140
Ensembl chr 5:110,839,979...110,874,145
JBrowse link
G Ciita class II transactivator ISO DNA:polymorphism:promoter:-168A>G (human) RGD PMID:17183695 RGD:5491201 NCBI chr16:10,480,014...10,531,064
Ensembl chr16:10,480,059...10,528,418
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO CTD Direct Evidence: marker/mechanism CTD PMID:16644639, PMID:21357282 RGD:6482318 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Cst3 cystatin C ISO protein:increased expression:serum (human) RGD PMID:19887833 RGD:2314295 NCBI chr 2:148,871,722...148,875,512
Ensembl chr 2:148,871,722...148,875,692
JBrowse link
G Cyba cytochrome b-245, alpha polypeptide ISO RGD PMID:16741160 RGD:2317864 NCBI chr 8:122,424,771...122,432,940
Ensembl chr 8:122,424,776...122,432,930
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 susceptibility ISO DNA:polymorphism:promoter:-344C>T (human) RGD PMID:17261471 RGD:2307294 NCBI chr15:74,850,618...74,856,231
Ensembl chr15:74,851,010...74,856,318
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 treatment IMP RGD PMID:21990351 RGD:10401057 NCBI chr15:76,502,012...76,512,021
Ensembl chr15:76,502,015...76,511,953
JBrowse link
G Dio2 deiodinase, iodothyronine, type II ISO DNA:polymorphism: :p.T92A (human) RGD PMID:18198294 RGD:2313696 NCBI chr12:90,724,552...90,739,038
Ensembl chr12:90,724,552...90,738,438
JBrowse link
G Ephx2 epoxide hydrolase 2, cytoplasmic ISO RGD PMID:22007192 RGD:5688391 NCBI chr14:66,084,372...66,124,522
Ensembl chr14:66,084,374...66,124,500
JBrowse link
G F3 coagulation factor III ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:12417540 RGD:2313865 NCBI chr 3:121,723,537...121,735,052
Ensembl chr 3:121,723,537...121,735,048
JBrowse link
G Fabp2 fatty acid binding protein 2, intestinal ISO RGD PMID:16919542 RGD:1626401 NCBI chr 3:122,895,072...122,899,506
Ensembl chr 3:122,895,072...122,899,506
JBrowse link
G Fabp4 fatty acid binding protein 4, adipocyte ISO protein:increased expression:serum RGD PMID:16919044 RGD:1625406 NCBI chr 3:10,204,342...10,208,616
Ensembl chr 3:10,204,088...10,208,576
JBrowse link
G Fadd Fas (TNFRSF6)-associated via death domain ISO protein:increased expression:heart left ventricle RGD PMID:23657904 RGD:11344884 NCBI chr 7:144,578,323...144,582,441
Ensembl chr 7:144,577,318...144,582,463
JBrowse link
G Fgf15 fibroblast growth factor 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr 7:144,896,532...144,900,953
Ensembl chr 7:144,896,531...144,900,953
JBrowse link
G Fgf21 fibroblast growth factor 21 treatment IDA RGD PMID:25306889 RGD:10401890 NCBI chr 7:45,613,890...45,615,490
Ensembl chr 7:45,613,886...45,615,490
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked treatment ISO RGD PMID:19374165, PMID:24868532 RGD:2307350, RGD:10449117 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Gckr glucokinase regulatory protein ISO RGD PMID:19861489 RGD:7242423 NCBI chr 5:31,297,266...31,327,302
Ensembl chr 5:31,297,443...31,327,314
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 susceptibility ISO RGD PMID:17095717, PMID:24847614 RGD:1601300, RGD:14747015 NCBI chr10:75,561,076...75,586,193
Ensembl chr10:75,561,604...75,586,200
JBrowse link
G Ghrl ghrelin ISO associated with Kidney Diseases;protein:decreased expression:serum
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
In peritoneal dialysis patients
DNA:polymorphisms
ClinVar PMID:11502844, PMID:12050239, PMID:12161552, PMID:16204371, PMID:18996292, PMID:18552255, PMID:16204371 RGD:2313748, RGD:7242555, RGD:1625021 NCBI chr 6:113,716,119...113,719,911
Ensembl chr 6:113,716,119...113,719,880
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:29452132 RGD:14700976 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Hdac3 histone deacetylase 3 ISO RGD PMID:21763752 RGD:9590183 NCBI chr18:37,936,971...37,955,015
Ensembl chr18:37,935,844...37,955,016
JBrowse link
G Hgf hepatocyte growth factor ISO RGD PMID:15713721 RGD:1642702 NCBI chr 5:16,553,495...16,619,439
Ensembl chr 5:16,553,495...16,620,152
JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr17:27,556,574...27,563,672
Ensembl chr11:120,762,794...120,764,419
Ensembl chr17:120,762,794...120,764,419
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase ISO RGD PMID:19461650 RGD:5508692 NCBI chr13:96,648,962...96,670,936
Ensembl chr13:96,648,967...96,670,936
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO RGD PMID:22193921 RGD:10763276 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Hnf4a hepatic nuclear factor 4, alpha ISO RGD PMID:16804065 RGD:1601642 NCBI chr 2:163,506,811...163,572,907
Ensembl chr 2:163,506,808...163,572,910
JBrowse link
G Hp haptoglobin treatment ISO protein:increased expression RGD PMID:17007284, PMID:20508159 RGD:1626341, RGD:11041859 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO RGD PMID:14697232 RGD:1625074 NCBI chr 1:193,221,640...193,264,045
Ensembl chr 1:193,221,634...193,264,075
JBrowse link
G Htr2c 5-hydroxytryptamine (serotonin) receptor 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632216, PMID:18515891, PMID:19142101 NCBI chr  X:146,962,464...147,197,277
Ensembl chr  X:146,962,513...147,197,277
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:19394054 RGD:2313467 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial susceptibility IMP RGD PMID:31064654 RGD:14985252 NCBI chr 7:80,094,845...80,118,608
Ensembl chr 7:80,094,846...80,115,392
JBrowse link
G Igf2 insulin-like growth factor 2 ISO DNA:insertion RGD PMID:18418699 RGD:2311520 NCBI chr 7:142,650,768...142,666,816
Ensembl chr 7:142,650,766...142,666,816
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO RGD PMID:16915540 RGD:1626481 NCBI chr 1:72,824,480...72,852,474
Ensembl chr 1:72,824,503...72,852,474
JBrowse link
G Il18 interleukin 18 treatment ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:16644639, PMID:19717152, PMID:24456735 RGD:4889401, RGD:8655985 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16644639 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Il6ra interleukin 6 receptor, alpha susceptibility ISO DNA:polymorphism: :p.D358A RGD PMID:16817825 RGD:1625430 NCBI chr 3:89,869,324...89,913,196
Ensembl chr 3:89,864,059...89,913,196
JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO DNA:SNPs: :rs2276047,snp8(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15220217, PMID:15220217 RGD:1626127 NCBI chr 7:101,822,632...101,838,226
Ensembl chr 7:101,822,632...101,838,229
JBrowse link
G Ins2 insulin II ISO CTD Direct Evidence: marker/mechanism CTD PMID:11274935, PMID:16259526 NCBI chr 7:142,678,656...142,679,726
Ensembl chr 7:142,678,656...142,743,381
JBrowse link
G Irs1 insulin receptor substrate 1 ISO protein:decreased expression:skeletal muscle RGD PMID:10842668 RGD:6482864 NCBI chr 1:82,233,105...82,291,439
Ensembl chr 1:82,233,112...82,235,933
Ensembl chr 1:82,233,112...82,235,933
JBrowse link
G Itgav integrin alpha V ISO RGD PMID:16784924 RGD:1627640 NCBI chr 2:83,722,303...83,806,917
Ensembl chr 2:83,724,397...83,806,916
JBrowse link
G Kl klotho ISO
IMP
mRNA:decreased expression:kidney: RGD PMID:11027545, PMID:11027545 RGD:10403056, RGD:10403056 NCBI chr 5:150,952,607...150,993,817
Ensembl chr 5:150,952,607...150,993,817
JBrowse link
G Lbp lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349936 NCBI chr 2:158,306,493...158,332,852
Ensembl chr 2:158,306,493...158,332,852
JBrowse link
G Lep leptin 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 6:29,060,221...29,073,876
Ensembl chr 6:29,060,220...29,073,877
JBrowse link
G Lipg lipase, endothelial ISO RGD PMID:16354105 RGD:1580865 NCBI chr18:74,939,322...74,961,263
Ensembl chr18:74,939,322...74,961,263
JBrowse link
G Lmna lamin A ISO DNA:SNP: :c.138747C>T (human) RGD PMID:15205219 RGD:2306121 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Lrp6 low density lipoprotein receptor-related protein 6 ISO DNA:missense mutation:cds RGD PMID:17332414 RGD:2298725 NCBI chr 6:134,446,476...134,566,913
Ensembl chr 6:134,446,476...134,566,965
JBrowse link
G Lrpap1 low density lipoprotein receptor-related protein associated protein 1 susceptibility ISO associated with Coronary Disease;DNA:SNP:exon RGD PMID:14557872 RGD:1581921 NCBI chr 5:35,091,490...35,105,699
Ensembl chr 5:35,091,501...35,105,766
JBrowse link
G Mir122 microRNA 122 ISO miRNA:increased expression:serum RGD PMID:27899485 RGD:14401601 NCBI chr18:65,248,861...65,248,926
Ensembl chr18:65,248,861...65,248,926
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO DNA:repeats:intron
protein:increased expression:plasma
RGD PMID:15922301, PMID:17556870 RGD:1642345, RGD:1642337 NCBI chr12:32,820,335...32,853,369
Ensembl chr12:32,819,545...32,853,349
JBrowse link
G Neil1 nei endonuclease VIII-like 1 (E. coli) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448, PMID:17389588 NCBI chr 9:57,142,788...57,148,688
Ensembl chr 9:57,142,800...57,148,305
JBrowse link
G Ngf nerve growth factor ISO RGD PMID:11935372 RGD:1580935 NCBI chr 3:102,469,919...102,521,013
Ensembl chr 3:102,469,919...102,521,013
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell treatment ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
CTD
ClinVar
PMID:12947532, PMID:15269839, PMID:20876122, PMID:28361419, PMID:28967023, PMID:29127233 RGD:13461762, RGD:13450928 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Nox1 NADPH oxidase 1 ISO protein:increased expression, increased activity:peripheral blood mononuclear cell (human) RGD PMID:16380495 RGD:1580973 NCBI chr  X:134,086,421...134,137,711
Ensembl chr  X:134,086,421...134,221,956
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr16:38,248,349...38,294,849
Ensembl chr16:38,248,323...38,294,824
JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr 1:171,213,934...171,218,845
Ensembl chr 1:171,213,970...171,220,701
JBrowse link
G Pla2g4a phospholipase A2, group IVA (cytosolic, calcium-dependent) ISO mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 1:149,829,618...149,961,290
Ensembl chr 1:149,829,618...149,961,290
JBrowse link
G Pla2g6 phospholipase A2, group VI ISO mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr15:79,286,228...79,328,385
Ensembl chr15:79,286,228...79,328,390
JBrowse link
G Pla2g7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) ISO mRNA:increased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr17:43,567,994...43,612,202
Ensembl chr17:43,568,098...43,612,201
JBrowse link
G Plat plasminogen activator, tissue ISO protein:increased expression:serum RGD PMID:18249307 RGD:2311664 NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21573798, PMID:14602783 RGD:1642618 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma no_association ISO DNA:SNP: :p.P12A (human) RGD PMID:18959602, PMID:16186413, PMID:16183630 RGD:2301843, RGD:1580686, RGD:1580683 NCBI chr 6:115,360,879...115,490,404
Ensembl chr 6:115,360,951...115,490,399
JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO mRNA:decreased expression:gastrocnemius muscle (rat) RGD PMID:20383225 RGD:10059661 NCBI chr 5:51,454,249...52,115,853
Ensembl chr 5:51,454,250...51,567,726
JBrowse link
G Prl prolactin ISO RGD PMID:16303834 RGD:1642558 NCBI chr13:27,057,570...27,065,204
Ensembl chr13:27,057,570...27,065,205
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:liver RGD PMID:17883899 RGD:1642586 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Reg1 regenerating islet-derived 1 treatment ISO RGD PMID:21685239 RGD:10044029 NCBI chr 6:78,425,983...78,428,668
Ensembl chr 6:78,422,711...78,428,667
JBrowse link
G Retn resistin ISO DNA:SNP:promoter:-420G>C (rs1862513) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18328350, PMID:17598818 RGD:7207155 NCBI chr 8:3,655,770...3,659,818
Ensembl chr 8:3,655,770...3,660,110
JBrowse link
G Selp selectin, platelet ISO RGD PMID:19061719 RGD:2312292 NCBI chr 1:164,115,264...164,150,026
Ensembl chr 1:164,115,264...164,150,026
JBrowse link
G Serpina12 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 treatment ISO human protein in a mouse model RGD PMID:16030142 RGD:1547845 NCBI chr12:104,028,769...104,044,443
Ensembl chr12:104,028,769...104,044,443
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 treatment ISO RGD PMID:26084260 RGD:11073736 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Shbg sex hormone binding globulin ISO protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:16968811, PMID:17992261, PMID:17884445 RGD:2313785 NCBI chr11:69,610,282...69,618,026
Ensembl chr11:69,614,804...69,617,905
JBrowse link
G Sirt1 sirtuin 1 treatment ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:hippocampus (rat)
CTD PMID:20068143, PMID:21514307, PMID:25356430 RGD:9585758, RGD:10053569 NCBI chr10:63,319,005...63,339,035
Ensembl chr10:63,319,005...63,381,704
JBrowse link
G Slc27a1 solute carrier family 27 (fatty acid transporter), member 1 susceptibility IAGP DNA:gene knockout::Slc27a1-/- mice resistant to diet-induced obesity and metabolic syndrome RGD PMID:16611988 RGD:1642790 NCBI chr 8:71,568,728...71,587,307
Ensembl chr 8:71,568,882...71,587,302
JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility ISO DNA:SNPs RGD PMID:14557872 RGD:1581921 NCBI chr15:102,150,415...102,163,469
Ensembl chr15:102,150,526...102,163,469
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial treatment IEP RGD PMID:28875871 RGD:26923956 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA:increased expression:left heart ventricle RGD PMID:18692559 RGD:2306739 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Thbd thrombomodulin ISO associated with Diabetic Nephropathies;protein:increased expression:plasma RGD PMID:16567841 RGD:1601641 NCBI chr 2:148,404,471...148,408,188
Ensembl chr 2:148,404,466...148,408,188
JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:24441717 RGD:10450604 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO associated with obesity;protein:increased expression:plasma RGD PMID:17200772 RGD:1624178 NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
JBrowse link
G Trf transferrin susceptibility ISO protein:increased expression:serum RGD PMID:17416791 RGD:1601514 NCBI chr 9:103,208,876...103,230,286
Ensembl chr 9:103,204,001...103,230,444
JBrowse link
G Trib3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18497449 NCBI chr 2:152,337,425...152,344,060
Ensembl chr 2:152,337,422...152,344,032
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO RGD PMID:18718174 RGD:2313109 NCBI chr 3:116,110,020...116,129,688
Ensembl chr 3:116,109,949...116,129,688
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:22206010 RGD:7483588 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Vwf Von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16764036 RGD:1625709 NCBI chr 6:125,552,948...125,686,679
Ensembl chr 6:125,546,774...125,686,679
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13395
    disease of anatomical entity 12871
      gastrointestinal system disease 4314
        pancreas disease 876
          endocrine pancreas disease 333
            abnormality of glucagon secretion 0
            gastrin secretion abnormality 0
            hyperinsulinism + 314
            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.