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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


show annotations for term's descendants           Sort by:
 
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 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 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY ClinVar NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564
JBrowse link
abdominal obesity-metabolic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctf1 cardiotrophin 1 ISS MouseDO NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
JBrowse link
G Gucy2c guanylate cyclase 2C ISS MouseDO NCBI chr 4:170,659,993...170,740,274
Ensembl chr 4:170,659,998...170,740,274
JBrowse link
G Lep leptin ISS MouseDO NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISS MouseDO NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS MouseDO NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Prkci protein kinase C, iota ISS MouseDO NCBI chr 2:115,941,998...116,002,550
Ensembl chr 2:115,941,993...116,002,561
JBrowse link
G Sirt3 sirtuin 3 ISS MouseDO NCBI chr 1:213,613,502...213,636,061
Ensembl chr 1:213,613,513...213,635,546
JBrowse link
abdominal obesity-metabolic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IDA protein:increased oxidation:cardiac muscle cell RGD PMID:23997093 RGD:13782087 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Fadd Fas associated via death domain treatment IEP RGD PMID:27131981 RGD:13792503 NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
JBrowse link
G Fas Fas cell surface death receptor IEP RGD PMID:30172001 RGD:13792561 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Lep leptin ISS OMIM:605552 MouseDO NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lpl lipoprotein lipase treatment IDA RGD PMID:26996629 RGD:13794382 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Metabolic syndrome, protection against ClinVar
OMIM
PMID:16721486 NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tp53inp1 tumor protein p53 inducible nuclear protein 1 ISS OMIM:605552 MouseDO NCBI chr 5:24,402,895...24,419,651
Ensembl chr 5:24,410,863...24,416,888
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 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165
JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by OMIM:615812 OMIM
ClinVar
PMID:24827035 NCBI chr 1:85,112,819...85,120,840
Ensembl chr 1:85,112,247...85,120,839
JBrowse link
Abdominal Obesity-Metabolic Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cela2a chymotrypsin like elastase 2A ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 OMIM
ClinVar
PMID:31358993 NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 ClinVar PMID:25741868 NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency ClinVar PMID:25741868, PMID:30576320 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
G Tbx19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency
ClinVar Annotator: match by OMIM:201400
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2830787, PMID:11290323, PMID:12651888, PMID:15476446, PMID:16390921, PMID:17652218, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr13:83,403,263...83,426,305
Ensembl chr13:83,403,264...83,425,641
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 ISO 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
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1 deficiency
ClinVar Annotator: match by OMIM:255120
OMIM
ClinVar
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 chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
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 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
Congenital Hyperinsulinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: 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 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Gck glucokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15277402 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO RGD PMID:9571255 RGD:1302513 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO DNA:deletion:cds (human) RGD PMID:14693719 RGD:2306664 NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO DNA:mutations: :
ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar PMID:10227563, PMID:10768098, PMID:10983627, PMID:15281001, PMID:15793260, PMID:15928245, PMID:16883527, PMID:16946562, PMID:18414213, PMID:21105491, PMID:22140441, PMID:22232426, PMID:23247789, PMID:24033266, PMID:24097065, PMID:25041077, PMID:25631608, PMID:25741868, PMID:26059258, PMID:26467025, PMID:26512799, PMID:26740944, PMID:27080136, PMID:27420379, PMID:28492532, PMID:20164212 RGD:12904701 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
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 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
G Kcnt2 potassium sodium-activated channel subfamily T member 2 ISO ClinVar Annotator: match by term: KCNT2-related condition ClinVar PMID:29069600 NCBI chr13:57,130,855...57,520,263
Ensembl chr13:57,131,395...57,521,836
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
JBrowse link
familial hyperinsulinemic hypoglycemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: 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 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
familial hyperinsulinemic hypoglycemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 2 ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
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 chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
familial hyperinsulinemic hypoglycemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by OMIM:609975
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4
ClinVar
OMIM
PMID:904979, PMID:11489939, PMID:14693719, PMID:19318379, PMID:21252247, PMID:22662265, PMID:23273570, PMID:25741868, PMID:27104957, PMID:28492532 NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
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 chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
familial hyperinsulinemic hypoglycemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO ClinVar Annotator: match by OMIM:609968 OMIM
ClinVar
PMID:8288049, PMID:15161766, PMID:25741868, PMID:27896077 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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 chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr16:10,570,307...10,661,528
Ensembl chr16:10,570,314...10,661,528
JBrowse link
familial hyperinsulinemic hypoglycemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Exercise-induced hyperinsulinism
ClinVar Annotator: match by term: Exercise-induced hyperinsulinemic hypoglycemia
ClinVar Annotator: match by OMIM:610021
OMIM
ClinVar
PMID:11207177, PMID:17701893, PMID:18414213, PMID:19881260, PMID:25371203, PMID:25741868, PMID:25741869, PMID:26595136, PMID:28492532 NCBI chr 2:207,108,552...207,129,352
Ensembl chr 2:207,108,552...207,128,554
JBrowse link
hyperinsulinemic hypoglycemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISS
ISO
OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021
ClinVar Annotator: match by term: Islet cell hyperplasia
ClinVar Annotator: match by term: Nesidioblastosis
MouseDO
ClinVar
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Gck glucokinase ISS OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 MouseDO NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
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 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
hyperinsulinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 susceptibility ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852, PMID:16416420, PMID:12199344 RGD:1625279, RGD:1598639 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO RGD PMID:14742740 RGD:2325255 NCBI chr 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing IEP RGD PMID:16414018 RGD:1599145 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adipor1 adiponectin receptor 1 IEP mRNA:decreased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr13:51,240,470...51,260,233
Ensembl chr13:51,240,911...51,260,228
JBrowse link
G Adipor2 adiponectin receptor 2 IEP mRNA:increased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Adm adrenomedullin ISO associated with Obesity;protein:increased expression:plasma RGD PMID:15789277 RGD:1625301 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Adra1b adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480, PMID:14581480 RGD:1625772, RGD:1625772 NCBI chr10:29,392,762...29,450,644
Ensembl chr10:29,392,762...29,450,644
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO associated with Obesity;mRNA:decreased expression:epidydimis, white fat RGD PMID:11014217 RGD:2313165 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Agt angiotensinogen ISO associated with obesity;DNA:polymorphism: :p.M235T RGD PMID:16713443 RGD:1601142 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a IEP RGD PMID:16565309 RGD:1642975 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:19883376 RGD:9586446 NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426
Ensembl chr20:3,910,555...3,917,426
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP
ISO
mRNA, protein:increased expression:aorta (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:29035695, PMID:17180354 RGD:8549642 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467
JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO DNA:loss of heterozygosity:pancreatic islet RGD PMID:11723059 RGD:2311334 NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
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 chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Ddc dopa decarboxylase ISO protein:increased expression:pancreatic beta cell (human) RGD PMID:16403819 RGD:5129140 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
JBrowse link
G Fanca FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fancc FA complementation group C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Foxa2 forkhead box A2 ISO RGD PMID:11445544 RGD:2313243 NCBI chr 3:142,383,084...142,387,493
Ensembl chr 3:142,383,278...142,387,481
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:3019152 NCBI chr 3:48,442,635...48,451,650
Ensembl chr 3:48,442,635...48,451,650
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 chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 IEP mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G Gip gastric inhibitory polypeptide IEP protein:decreased expression:plasma (rat) RGD PMID:8059006 RGD:2312550 NCBI chr10:83,835,080...83,848,399
Ensembl chr10:83,840,303...83,848,396
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9571255, PMID:25741868, PMID:26467025, PMID:10636977, PMID:20670938 RGD:1601353, RGD:6484656 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15184668, PMID:18560803 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive ClinVar PMID:28492532 NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19171794 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar Annotator: match by term: Hyperinsulinemia
ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency
ClinVar PMID:9267996, PMID:9313765, PMID:9449683, PMID:10983627, PMID:15793260, PMID:16883527, PMID:16917892, PMID:16946562, PMID:17573900, PMID:18811724, PMID:20164212, PMID:22662265, PMID:22802087, PMID:24033266, PMID:24285859, PMID:25741868, PMID:25819479, PMID:26467025, PMID:27245055, PMID:28458902, PMID:28492532, PMID:28693455, PMID:29998026, PMID:17407387 RGD:12904698 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Hp haptoglobin ISO protein:increased expression:serum RGD PMID:17598972 RGD:1626335 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il6 interleukin 6 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) RGD PMID:19375766 RGD:2307250 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2991050, PMID:3511099, PMID:4019786, PMID:6382002, PMID:9667398 RGD:1625121 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.P1195L (mouse)
CTD PMID:10949030, PMID:18411068, PMID:10949030, PMID:21549686 RGD:1302523, RGD:10403034 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP protein:increased expression:liver (rat) RGD PMID:25385842 RGD:12903966 NCBI chr 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734900 NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
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 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
G Lep leptin ISO
IMP
CTD Direct Evidence: marker/mechanism CTD PMID:9826672, PMID:22948215 RGD:12904911 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepem1Sage leptin; zinc finger nuclease induced mutant1, Sage IMP RGD PMID:22948215 RGD:12904911
G Lepr leptin receptor ISO
IMP
CTD Direct Evidence: marker/mechanism CTD PMID:3519326, PMID:15093691, PMID:22949526, PMID:24384915, PMID:25222487, PMID:29988851, PMID:30689673, PMID:26537785 RGD:12911216 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh IMP RGD PMID:26537785 RGD:12911216
G Lipc lipase C, hepatic type IDA
ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)
RGD PMID:7047662, PMID:1592086, PMID:11095452 RGD:2308800, RGD:2308794, RGD:2308844 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G LOC100909544 bromodomain-containing protein 2-like ISO RGD PMID:19883376 RGD:9586446 NCBI chr20:3,910,555...3,918,348
Ensembl chr20:3,910,555...3,917,426
JBrowse link
G Lta lymphotoxin alpha ISO associated with Coronary Arteriosclerosis RGD PMID:9726033 RGD:1625034 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mc4r melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23251400 NCBI chr18:62,612,838...62,614,725
Ensembl chr18:62,612,838...62,614,725
JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO RGD PMID:16638826 RGD:1641947 NCBI chr10:10,832,573...10,881,999
Ensembl chr10:10,833,519...10,881,977
JBrowse link
G Mrc1 mannose receptor, C type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr17:81,352,700...81,433,743
Ensembl chr17:81,352,700...81,433,743
JBrowse link
G Mttp microsomal triglyceride transfer protein susceptibility ISO DNA:polymorphism:promoter:-493G>T RGD PMID:11849654 RGD:1625490 NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:19008412 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Npy5r neuropeptide Y receptor Y5 IDA RGD PMID:15187000 RGD:1625494 NCBI chr16:24,796,685...24,805,730
Ensembl chr16:24,797,124...24,805,079
JBrowse link
G Parl presenilin associated, rhomboid-like no_association ISO DNA:missense mutation:cds:p.L262V (human) RGD PMID:15729572, PMID:19185381 RGD:12880443, RGD:12880445 NCBI chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462
JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 IEP associated with Obesity;protein:increased expression:liver RGD PMID:9705027 RGD:2302681 NCBI chr  X:23,092,143...23,145,923
Ensembl chr  X:23,092,159...23,144,324
JBrowse link
G Pklr pyruvate kinase L/R ISO mRNA:increased expression:liver RGD PMID:14766002 RGD:1625581 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
G Prkcd protein kinase C, delta IEP RGD PMID:8826977 RGD:1625605 NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
JBrowse link
G Prkcq protein kinase C, theta IEP associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus RGD PMID:8826977 RGD:1625605 NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286
JBrowse link
G Pten phosphatase and tensin homolog IEP protein:decreased expression:ovary RGD PMID:18421022 RGD:2292519 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO CTD Direct Evidence: therapeutic CTD PMID:28899902 NCBI chr 3:164,665,462...164,711,936
Ensembl chr 3:164,665,532...164,711,848
JBrowse link
G Ptprf protein tyrosine phosphatase, receptor type, F ISO mouse model overexpressing human transgene RGD PMID:11309481 RGD:1642735 NCBI chr 5:137,036,936...137,112,930
Ensembl chr 5:137,036,935...137,112,927
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased phosphorylation:liver, skeletal muscle RGD PMID:15692808 RGD:1643026 NCBI chr10:73,824,200...73,865,503
Ensembl chr10:73,824,202...73,865,364
JBrowse link
G Scd stearoyl-CoA desaturase IEP associated with Obesity RGD PMID:16284748 RGD:1580005 NCBI chr 1:264,159,966...264,173,061
Ensembl chr 1:264,160,129...264,172,729
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar NCBI chr16:10,570,307...10,661,528
Ensembl chr16:10,570,314...10,661,528
JBrowse link
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar PMID:25741868 NCBI chr 2:207,108,552...207,129,352
Ensembl chr 2:207,108,552...207,128,554
JBrowse link
G Slc27a1 solute carrier family 27 member 1 IEP protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle RGD PMID:15281014 RGD:1642794 NCBI chr16:19,997,823...20,016,193
Ensembl chr16:19,999,112...20,016,190
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tsc22d3 TSC22 domain family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22556341 NCBI chr  X:111,884,285...111,944,693
Ensembl chr  X:111,884,295...111,887,906
JBrowse link
G Txnip thioredoxin interacting protein susceptibility ISO DNA:nonsense mutation RGD PMID:15047687 RGD:1642753 NCBI chr 2:198,683,168...198,686,971
Ensembl chr 2:198,683,159...198,686,974
JBrowse link
hypoglycemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 IMP RGD PMID:18776135 RGD:2301896 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO RGD PMID:21979934 RGD:7248543 NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15454078 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO RGD PMID:11557984 RGD:734816 NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
JBrowse link
G Crh corticotropin releasing hormone IDA RGD PMID:12606499 RGD:704397 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma RGD PMID:19211168 RGD:2313835 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G G6pc glucose-6-phosphatase, catalytic subunit 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 chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Gck glucokinase ISO hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M RGD PMID:9435328 RGD:1601294 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
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 chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B IEP mRNA, protein:increased expression:cerebellum (rat) RGD PMID:20056114 RGD:4107025 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Hypoglycaemia ClinVar PMID:30311386 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Hnf1a HNF1 homeobox A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787664 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO associated with Hyperinsulinemia;DNA:frameshift mutation, nonsense mutation, splice-site mutation RGD PMID:18268044, PMID:17407387 RGD:2301837, RGD:12904698 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3185662 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO RGD PMID:11343120 RGD:737755 NCBI chr 1:166,898,177...166,912,524
Ensembl chr 1:166,899,894...166,912,524
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:48835, PMID:1324617, PMID:1646414, PMID:1890151, PMID:2554359, PMID:20620209, PMID:22940631 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Hypoglycemia ClinVar PMID:25741868 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO RGD PMID:9988280 RGD:737788 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase IEP associated with Diabetes Mellitus, Experimental; mRNA:decreased expression:adrenal gland (rat) RGD PMID:15494609 RGD:5130725 NCBI chr10:86,340,893...86,342,501
Ensembl chr10:86,340,940...86,342,858
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16777972 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
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 4:41,171,486...41,212,116
Ensembl chr 4:41,171,486...41,212,072
JBrowse link
G Prl prolactin ISO associated with Hypertension RGD PMID:16617309 RGD:1642557 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17659342 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Th tyrosine hydroxylase IEP associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat) RGD PMID:16396986 RGD:5130724 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8774068 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Ucp3 uncoupling protein 3 ISO RGD PMID:10935638 RGD:737762 NCBI chr 1:165,482,912...165,495,895
Ensembl chr 1:165,482,155...165,496,206
JBrowse link
Hypoglycemia, Leucine-Induced term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Leucine-induced hypoglycemia
ClinVar Annotator: match by OMIM:240800
OMIM
ClinVar
PMID:15356046, PMID:25741868 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
Hypoinsulinemic Hypoglycemia with Hemihypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and hemihypertrophy OMIM
ClinVar
PMID:21979934 NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
JBrowse link
Insulin Resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha IDA RGD PMID:16485039 RGD:1625727 NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
JBrowse link
G Acacb acetyl-CoA carboxylase beta IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:22658938, PMID:16485039 RGD:1625727 NCBI chr12:48,127,149...48,238,969
Ensembl chr12:48,127,149...48,238,887
JBrowse link
G Ace angiotensin I converting enzyme ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Acp1 acid phosphatase 1 ISO associated with Obesity RGD PMID:17353188 RGD:2313180 NCBI chr 6:49,836,064...49,851,714
Ensembl chr 6:49,836,075...49,851,714
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:16788709 RGD:1625735 NCBI chr16:48,937,456...49,003,898
Ensembl chr16:48,937,456...49,003,246
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment IEP
ISO
CTD Direct Evidence: therapeutic
associated with Hypertension
CTD PMID:18931039, PMID:21484566, PMID:16041833, PMID:23089228, PMID:21872431 RGD:1599150, RGD:8695951, RGD:8695928 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adipor1 adiponectin receptor 1 resistance ISO associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C RGD PMID:17285539 RGD:1625762 NCBI chr13:51,240,470...51,260,233
Ensembl chr13:51,240,911...51,260,228
JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP RGD PMID:30225267, PMID:24797033 RGD:21406435, RGD:25824940 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Adora1 adenosine A1 receptor treatment ISO
IDA
associated with Obesity RGD PMID:11703426, PMID:15220221 RGD:2313807, RGD:1625243 NCBI chr13:51,042,111...51,076,913
Ensembl chr13:51,042,248...51,076,852
JBrowse link
G Adra1b adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480, PMID:14581480 RGD:1625772, RGD:1625772 NCBI chr10:29,392,762...29,450,644
Ensembl chr10:29,392,762...29,450,644
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO
IDA
DNA:polymorphism: :p.R16G
CTD Direct Evidence: marker/mechanism
CTD PMID:19034036, PMID:15699455, PMID:11510954 RGD:1601125, RGD:1598757 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Adrb3 adrenoceptor beta 3 no_association ISO DNA:missense mutation:cds:p.W64R rs4994 (human)
associated with Obesity;DNA:polymorphism: :p.W64R (human)
RGD PMID:10421225, PMID:10582543, PMID:17299491 RGD:1559326, RGD:5684421, RGD:2313158 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Agtr2 angiotensin II receptor, type 2 IEP protein:increased expression:dorsal root ganglion, neuron RGD PMID:22357959 RGD:6903873 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25734695 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Ahsg alpha-2-HS-glycoprotein susceptibility ISO protein:increased expression:plasma RGD PMID:17011519, PMID:17011519, PMID:16567827 RGD:1625793, RGD:1625793, RGD:1625794 NCBI chr11:81,711,269...81,717,594 JBrowse link
G Akt2 AKT serine/threonine kinase 2 no_association ISO DNA:SNPs RGD PMID:17327441 RGD:1601155 NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member treatment IEP protein:altered expression, altered activity:liver (rat) RGD PMID:28688179 RGD:14981582 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:19787041 RGD:5509625 NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
JBrowse link
G Ankrd26 ankyrin repeat domain 26 ISO RGD PMID:18162531 RGD:9681744 NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
JBrowse link
G Apln apelin IEP mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chr  X:134,856,719...134,866,210
Ensembl chr  X:134,856,726...134,866,210
JBrowse link
G Apoa2 apolipoprotein A2 ISO RGD PMID:11246886 RGD:2313957 NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
JBrowse link
G Apoc1 apolipoprotein C1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11723061 RGD:2313951 NCBI chr 1:80,606,638...80,609,921
Ensembl chr 1:80,606,638...80,609,921
JBrowse link
G Apoc3 apolipoprotein C3 susceptibility
treatment
ISO
IEP
RGD PMID:15734841, PMID:15007394 RGD:1601226, RGD:1580750 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
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:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Arg1 arginase 1 IEP protein:decreased activity:liver (rat) RGD PMID:20593143 RGD:4142796 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Atm ATM serine/threonine kinase IEP protein:decreased expression:muscle: RGD PMID:18534819 RGD:8693659 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO mRNA:increased expression:skeletal muscle RGD PMID:14576983 RGD:1601252 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Bad BCL2-associated agonist of cell death IDA protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart RGD PMID:21385329 RGD:10053645 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:17917325 RGD:2306776 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Bdkrb1 bradykinin receptor B1 IMP
IEP
RGD PMID:17618300, PMID:17988733 RGD:5129217, RGD:5129214 NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin IMP RGD PMID:25934999 RGD:11085488 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Bscl2m1Kyo BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo IMP RGD PMID:25934999 RGD:11085488
G C1r complement C1r ISO protein:increased expression:adipocyte RGD PMID:17244723 RGD:1600551 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18615583 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Capn10 calpain 10 ISO DNA:SNP:intron:rs3792267 (human) RGD PMID:11018080 RGD:7247736 NCBI chr 9:100,104,000...100,112,833
Ensembl chr 9:100,104,000...100,112,832
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22325453 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:29748970 RGD:13782289 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp8 caspase 8 IEP RGD PMID:29748970 RGD:13782289 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Cat catalase ISO associated with Obesity RGD PMID:19188683 RGD:5130761 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cblb Cbl proto-oncogene B ISO RGD PMID:17601987 RGD:2314038 NCBI chr11:51,037,383...51,202,761
Ensembl chr11:51,037,393...51,202,820
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:29035695, PMID:18762729, PMID:22983634 RGD:2306985, RGD:8548844 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467
JBrowse link
G Cd36 CD36 molecule ISO
IMP
IDA
associated with Diabetes Mellitus, Type 2
CTD Direct Evidence: marker/mechanism
CTD PMID:14640889, PMID:15231693, PMID:25477422, PMID:12923231, PMID:11175782 RGD:2307217, RGD:11041132, RGD:11040926, RGD:68930 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
JBrowse link
G Cnr1 cannabinoid receptor 1 IMP associated with Obesity RGD PMID:19553924 RGD:2314662 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
JBrowse link
G Cntf ciliary neurotrophic factor TAS possible therapeutic agent RGD PMID:16675997 RGD:1626122 NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase IEP associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr14:10,581,102...10,601,093
Ensembl chr14:10,581,136...10,600,566
JBrowse link
G Cpb2 carboxypeptidase B2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma RGD PMID:11836301 RGD:2313645 NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
JBrowse link
G Cpe carboxypeptidase E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15358678 NCBI chr16:26,906,716...27,014,811
Ensembl chr16:26,906,716...27,014,813
JBrowse link
G Cst3 cystatin C ISO associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) RGD PMID:19765773 RGD:2314305 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
JBrowse link
G Dio2 iodothyronine deiodinase 2 ISO DNA:SNP: :rs225014, p.T92A (human) RGD PMID:11872697 RGD:2313698 NCBI chr 6:114,475,156...114,489,443
Ensembl chr 6:114,476,142...114,476,723
JBrowse link
G Drd1 dopamine receptor D1 IEP associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule RGD PMID:15798088 RGD:2302119 NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
JBrowse link
G Ech1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chr 1:87,009,798...87,015,996
Ensembl chr 1:87,009,730...87,016,005
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22238402 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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 chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
G F7 coagulation factor VII severity ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:9187410 RGD:2312406 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Fabp2 fatty acid binding protein 2 no_association ISO DNA:SNP:CDS:p.A54T (human)
DNA:polymorphism:CDS:p.A54T (human)
DNA:polymorphism:CDS:amino acid A54T, in healthy, moderately overweight subjects in Baton Rouge
RGD PMID:7883976, PMID:17211557, PMID:14981227, PMID:16311100 RGD:1300314, RGD:1626407, RGD:1626400, RGD:1578456 NCBI chr 2:227,080,912...227,083,654
Ensembl chr 2:227,080,924...227,083,501
JBrowse link
G Fabp3 fatty acid binding protein 3 severity ISO RGD PMID:16249436 RGD:1578459 NCBI chr 5:148,528,854...148,535,597
Ensembl chr 5:148,528,725...148,535,565
JBrowse link
G Fabp4 fatty acid binding protein 4 IEP RGD PMID:17391165 RGD:1625407 NCBI chr 2:93,792,666...93,797,267
Ensembl chr 2:93,792,601...93,797,305
JBrowse link
G Fanca FA complementation group A ISO RGD PMID:22482891 RGD:11046266 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fancc FA complementation group C ISO RGD PMID:22482891 RGD:11046266 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Fas Fas cell surface death receptor treatment IEP associated with hypothalamic disease RGD PMID:29522769 RGD:13792596 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fgf19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr 1:218,058,405...218,061,693
Ensembl chr 1:218,058,405...218,061,693
JBrowse link
G Fis1 fission, mitochondrial 1 IEP protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
JBrowse link
G Foxc2 forkhead box C2 ISO DNA:polymorphism:5'ut:-512C>T RGD PMID:12453913 RGD:1601219 NCBI chr19:53,044,379...53,047,081
Ensembl chr19:53,044,379...53,047,081
JBrowse link
G Foxo1 forkhead box O1 IEP mRNA:increased expression:adipose tissue: RGD PMID:16041833 RGD:1599150 NCBI chr 2:141,451,234...141,527,016
Ensembl chr 2:141,451,234...141,527,016
JBrowse link
G Fxn frataxin ISO DNA:repeats:intron:GAA (human) RGD PMID:10969848 RGD:2307049 NCBI chr 1:242,123,975...242,152,834
Ensembl chr 1:242,123,975...242,152,834
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP associated with Obesity;protein:increased expression:pancreas RGD PMID:23015612 RGD:10449129 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gck glucokinase IEP protein:increased expression:pancreatic islet RGD PMID:19039094 RGD:7488970 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559284 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:17062894 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Gnb3 G protein subunit beta 3 ISO DNA:polymorphism: :825C>T (human) RGD PMID:12624279 RGD:1580411 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270708 NCBI chr10:40,247,436...40,255,423
Ensembl chr10:40,247,436...40,255,422
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO RGD PMID:15994203 RGD:1625791 NCBI chr 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
JBrowse link
G Gsta4 glutathione S-transferase alpha 4 ISO mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human) RGD PMID:20150287 RGD:5687771 NCBI chr 8:85,497,557...85,514,732
Ensembl chr 8:85,497,557...85,518,879
JBrowse link
G Gys1 glycogen synthase 1 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human) RGD PMID:9267990 RGD:2313176 NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:decreased expression:liver RGD PMID:17350134 RGD:1601515 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr20:7,132,501...7,140,155
Ensembl chr20:7,136,007...7,138,980
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:18375438, PMID:19171794, PMID:12941774 RGD:1601621 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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 chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21786805 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IEP RGD PMID:18948349 RGD:10402862 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO associated with Peripheral Vascular Diseases RGD PMID:17062970 RGD:1624367 NCBI chr15:56,666,152...56,732,469
Ensembl chr15:56,666,012...56,735,382
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO associated with Obesity;protein:increased secretion:plasma (human)
protein:increased expression:serum
RGD PMID:11782876, PMID:19394054 RGD:1625753, RGD:2313467 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17726072 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
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 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:17237715 RGD:2313762 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Igfbp6 insulin-like growth factor binding protein 6 ISO human transgene overexpressed in mouse brain RGD PMID:15889232 RGD:2301717 NCBI chr 7:143,749,385...143,754,018
Ensembl chr 7:143,749,221...143,754,054
JBrowse link
G Igfbp7 insulin-like growth factor binding protein 7 ISO protein:increased expression:serum RGD PMID:16873698 RGD:1626516 NCBI chr14:33,010,300...33,070,193
Ensembl chr14:33,010,300...33,070,190
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:29036520, PMID:19073766 RGD:7495768 NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
JBrowse link
G Il18 interleukin 18 treatment ISO associated with Graves Disease RGD PMID:23257837, PMID:16732281 RGD:8655938, RGD:14695532 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta treatment ISO
IEP
associated with Obesity;mRNA:increased expression:adipose tissue
associated with hypothalamic disease
RGD PMID:16865359, PMID:29522769 RGD:1626632, RGD:13792596 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 IDA
IEP
associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat)
mRNA:increased expression:islet of Langerhans
RGD PMID:19328014, PMID:21826222 RGD:2307252, RGD:10402828 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6r interleukin 6 receptor ISO protein:decreased expression:serum RGD PMID:14962155 RGD:1625431 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: therapeutic CTD PMID:20376352 NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 IMP associated with Metabolic Syndrome X RGD PMID:17327370, PMID:12453826 RGD:2312440, RGD:2312442 NCBI chr 1:166,898,177...166,912,524
Ensembl chr 1:166,899,894...166,912,524
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11522680, PMID:24648896, PMID:25796170, PMID:3322910 RGD:2311112 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Insr insulin receptor disease_progression
treatment
ISO
IEP
mRNA, protein:decreased expression:liver (rat)
ClinVar Annotator: match by term: Insulin resistance
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1314826, PMID:1890161, PMID:1963473, PMID:8202531, PMID:10949030, PMID:11887975, PMID:27896077, PMID:10949030, PMID:26300412, PMID:23538485 RGD:1302523, RGD:11529553, RGD:10403037 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
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 chr16:83,824,515...83,848,569
Ensembl chr16:83,824,430...83,848,684
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032110 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
G Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 IEP mRNA, protein:decreased expression:aorta, mesenteric artery RGD PMID:21425425 RGD:10412047 NCBI chr10:18,910,586...18,922,856
Ensembl chr10:18,906,010...18,919,639
JBrowse link
G Klf11 Kruppel-like factor 11 ISO RGD PMID:18505768 RGD:2311539 NCBI chr 6:43,829,812...43,841,649
Ensembl chr 6:43,829,945...43,841,651
JBrowse link
G Klf14 Kruppel-like factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29632379 NCBI chr 4:58,247,876...58,250,798
Ensembl chr 4:58,247,876...58,250,798
JBrowse link
G Klk1 kallikrein 1 ISO RGD PMID:17272402 RGD:1641794 NCBI chr 1:100,131,562...100,135,556
Ensembl chr 1:100,059,967...100,203,329
Ensembl chr 1:100,059,967...100,203,329
Ensembl chr 1:100,059,967...100,203,329
JBrowse link
G Klk1c12 kallikrein 1-related peptidase C12 ISO RGD PMID:17272402 RGD:1641794 NCBI chr 1:99,298,965...99,303,048
Ensembl chr 1:99,299,011...99,303,048
JBrowse link
G Lep leptin IEP
ISO
IMP
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:nonsense mutation:cds:
associated with Obesity
CTD PMID:10753628, PMID:11342529, PMID:24150608, PMID:19296906, PMID:23800849, PMID:19419916 RGD:5128697, RGD:8549777, RGD:2311127 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepm1Kyo leptin; ENU induced mutant1, Kyo IMP RGD PMID:23800849 RGD:8549777
G Lepr leptin receptor ISO
IAGP
associated with Obesity;DNA:polymorphism: :p.K656N (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K656N (human)
CTD PMID:19452630, PMID:20567778, PMID:25367288, PMID:28611668, PMID:29988851, PMID:30689673, PMID:18413223, PMID:23154293, PMID:18632178 RGD:2311142, RGD:13432147, RGD:2311138 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Leprfa leptin receptor; fa mutant IAGP RGD PMID:23154293 RGD:13432147
G Lipc lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:15504970 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Insulin resistance syndrome, type A ClinVar PMID:15919811, PMID:16478798, PMID:20848652, PMID:23785128, PMID:24033266, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lpin1 lipin 1 ISO RGD PMID:17563064 RGD:1641822 NCBI chr 6:41,796,214...41,905,149
Ensembl chr 6:41,799,749...41,870,046
JBrowse link
G Lpl lipoprotein lipase ISO RGD PMID:18952837 RGD:2313300 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Lta lymphotoxin alpha no_association ISO DNA:polymorphism RGD PMID:9245742 RGD:1625035 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mapk3 mitogen activated protein kinase 3 treatment IDA associated with polycystic ovary syndrome RGD PMID:23349861 RGD:13800789 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Mc4r melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18454146 NCBI chr18:62,612,838...62,614,725
Ensembl chr18:62,612,838...62,614,725
JBrowse link
G Metrnl meteorin-like, glial cell differentiation regulator ISO CTD Direct Evidence: therapeutic CTD PMID:30213948 NCBI chr10:110,893,261...110,907,256
Ensembl chr10:110,893,232...110,907,243
JBrowse link
G Mfn2 mitofusin 2 treatment IEP RGD PMID:24715199 RGD:13204838 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mif macrophage migration inhibitory factor ISO protein:increased expression:plasma RGD PMID:12552367 RGD:1641955 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Mir125a microRNA 125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr 1:59,704,827...59,704,911
Ensembl chr 1:59,704,827...59,704,911
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:serum RGD PMID:29479888, PMID:27711113 RGD:24922220, RGD:25671464 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mrc1 mannose receptor, C type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr17:81,352,700...81,433,743
Ensembl chr17:81,352,700...81,433,743
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO associated with Polycystic Ovary Syndrome;protein:increased expression:serum RGD PMID:17582143 RGD:1642341 NCBI chr 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO associated with obesity; protein:decreased expression:hepatocyte: RGD PMID:32102936 RGD:21201281 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nos2 nitric oxide synthase 2 IEP
ISO
mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat) RGD PMID:22023455, PMID:21846719 RGD:5509041, RGD:5509075 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP
ISO
protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:11457755, PMID:12716763, PMID:12947532, PMID:19008412, PMID:18298918, PMID:28946194 RGD:2292098, RGD:13450950 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nppb natriuretic peptide B ISO associated with Obesity and Hypertension;protein:decreased expression:serum RGD PMID:17392814 RGD:1642192 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 susceptibility ISO RGD PMID:16557297 RGD:1625076 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chr 7:142,899,358...142,920,216
Ensembl chr 7:142,905,758...142,920,216
JBrowse link
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chr 5:63,781,801...63,822,890
Ensembl chr 5:63,781,801...63,821,637
JBrowse link
G Parl presenilin associated, rhomboid-like IEP mRNA:decreased expression:gastrocnemius (rat) RGD PMID:19859837 RGD:12880442 NCBI chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO
IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:pancreatic islet (mouse)
protein:increased expression:pancreatic duct (rat)
RGD PMID:18288891, PMID:16046294 RGD:2311222, RGD:2311223 NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO
IDA
CTD Direct Evidence: marker/mechanism
associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta
CTD PMID:14714311, PMID:17283057, PMID:16332940, PMID:10426374 RGD:1625211, RGD:1625212, RGD:1625262 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
G Pklr pyruvate kinase L/R ISO mRNA, protein:decreased expression:liver RGD PMID:12958186 RGD:1625583 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
G Pla2g1b phospholipase A2 group IB susceptibility ISO RGD PMID:12376327 RGD:1302550 NCBI chr12:46,879,346...46,890,234
Ensembl chr12:46,879,343...46,889,082
JBrowse link
G Plac8 placenta associated 8 IEP associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr14:10,692,799...10,714,556
Ensembl chr14:10,692,764...10,714,524
JBrowse link
G Plekhs1 pleckstrin homology domain containing S1 IEP associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr 1:277,261,493...277,294,194
Ensembl chr 1:277,261,681...277,291,370
JBrowse link
G Plin2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 5:104,984,413...105,010,863
Ensembl chr 5:104,984,414...105,010,857
JBrowse link
G Pltp phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr 3:161,304,469...161,322,289
Ensembl chr 3:161,304,469...161,322,289
JBrowse link
G Pmch pro-melanin-concentrating hormone IDA RGD PMID:16002548 RGD:1642484 NCBI chr 7:28,655,206...28,656,522
Ensembl chr 7:28,654,733...28,657,522
JBrowse link
G Pon1 paraoxonase 1 ISO DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001) RGD PMID:11788650 RGD:1642617 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:16168052, PMID:21324916, PMID:19322024 RGD:5683642 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO associated with Obesity
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD PMID:14676330, PMID:19818749 RGD:2324897, RGD:2313780 NCBI chr20:7,818,289...7,883,482
Ensembl chr20:7,818,289...7,885,333
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 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO
IEP
DNA:missense mutation:cds:p.G482S rs8192678 (human)
mRNA:decreased expression:liver (rat)
RGD PMID:23449621, PMID:22658649 RGD:7241821, RGD:7242170 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ppargc1b PPARG coactivator 1 beta ISO RGD PMID:16896940 RGD:1642499 NCBI chr18:56,626,725...56,650,524
Ensembl chr18:56,626,712...56,728,968
JBrowse link
G Ppp1r3a protein phosphatase 1, regulatory subunit 3A ISO DNA:nonsense mutation
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
DNA:polymorphism:exon:p.D905Y (human)
ClinVar PMID:7581368, PMID:30311386, PMID:12118251, PMID:7581368 RGD:1601446, RGD:1601468 NCBI chr 4:41,171,486...41,212,116
Ensembl chr 4:41,171,486...41,212,072
JBrowse link
G Prdx3 peroxiredoxin 3 IEP associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr 1:282,238,774...282,251,193
Ensembl chr 1:282,238,773...282,251,257
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 IDA
ISO
associated with Obesity
CTD Direct Evidence: marker/mechanism
CTD PMID:19934007, PMID:22231922 RGD:6484545 NCBI chr 2:54,857,688...54,893,404
Ensembl chr 2:54,857,688...54,893,404
JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 susceptibility ISO DNA:SNPs
CTD Direct Evidence: marker/mechanism
CTD PMID:19934007, PMID:16567511 RGD:1625266 NCBI chr 5:124,568,845...124,642,569
Ensembl chr 5:124,574,079...124,642,569
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
G Prkcb protein kinase C, beta IDA RGD PMID:12665248 RGD:1625515 NCBI chr 1:192,233,569...192,575,339
Ensembl chr 1:192,233,910...192,574,831
JBrowse link
G Prkcd protein kinase C, delta IEP
ISO
protein:altered localization:nucleus
associated with Obesity;protein:increased activity:adipocyte
RGD PMID:12217885, PMID:15507533 RGD:729667, RGD:1642527 NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
JBrowse link
G Prkcq protein kinase C, theta IEP associated with Obesity;protein:decreased expression:skeletal muscle
protein:altered localization:skeletal muscle
RGD PMID:10923637, PMID:9000691 RGD:1625603, RGD:1625604 NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286
JBrowse link
G Prkcz protein kinase C, zeta ISO RGD PMID:12882908 RGD:1642650 NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421
JBrowse link
G Prl prolactin ISO associated with Hyperprolactinemia RGD PMID:3888755 RGD:1642560 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Pten phosphatase and tensin homolog IDA
ISO
protein:increased expression, decreased acetylation:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:18303120, PMID:18385463 RGD:2292521 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptgds prostaglandin D2 synthase susceptibility ISO RGD PMID:15970590 RGD:1642581 NCBI chr 3:2,686,125...2,689,059
Ensembl chr 3:2,686,123...2,689,084
JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO associated with Obesity RGD PMID:16039993 RGD:1642605 NCBI chr15:42,827,306...42,947,796
Ensembl chr15:42,827,310...42,947,656
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 3:164,665,462...164,711,936
Ensembl chr 3:164,665,532...164,711,848
JBrowse link
G Ptprf protein tyrosine phosphatase, receptor type, F ISO mouse model overexpressing human transgene RGD PMID:11309481, PMID:9218523 RGD:1642735, RGD:1642733 NCBI chr 5:137,036,936...137,112,930
Ensembl chr 5:137,036,935...137,112,927
JBrowse link
G Pyy peptide YY ISO protein:decreased expression RGD PMID:17045646 RGD:1625281 NCBI chr10:90,047,989...90,049,155
Ensembl chr10:90,047,993...90,049,112
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO mRNA:decreased expression:adipose tissue RGD PMID:23315497 RGD:8547988 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO
IEP
protein:altered localization:soleus RGD PMID:18198644, PMID:18073321 RGD:2298857, RGD:2298860 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Retn resistin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16493877, PMID:18789551 RGD:2313499 NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
JBrowse link
G Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO RGD PMID:16537411 RGD:2311703 NCBI chr19:561,696...564,929
Ensembl chr19:561,727...564,930
JBrowse link
G Scd stearoyl-CoA desaturase ISO CTD Direct Evidence: therapeutic CTD PMID:21661758 NCBI chr 1:264,159,966...264,173,061
Ensembl chr 1:264,160,129...264,172,729
JBrowse link
G Selenop selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:14714311 NCBI chr 2:53,105,912...53,116,198
Ensembl chr 2:53,109,684...53,114,858
JBrowse link
G Serpina1 serpin family A member 1 ISO RGD PMID:16752182 RGD:1601202 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Serpine1 serpin family E member 1 treatment IEP
IDA
mRNA:increased expression:white adipose tissue (rat) RGD PMID:19776253, PMID:26188590 RGD:8547949, RGD:11073726 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO
IDA
associated with Hypertension
human protein in a rat model
RGD PMID:19073347, PMID:22714715, PMID:24288442 RGD:2312339, RGD:8655563, RGD:8642993 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Shc1 SHC adaptor protein 1 ISO mRNA:increased expression:adipose tissue RGD PMID:17986714 RGD:1643171 NCBI chr 2:188,745,503...188,757,066
Ensembl chr 2:188,745,503...188,757,066
JBrowse link
G Si sucrase-isomaltase IEP associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine RGD PMID:9878708 RGD:1625544 NCBI chr 2:170,220,794...170,301,348
Ensembl chr 2:170,221,245...170,301,348
JBrowse link
G Sirt1 sirtuin 1 treatment IDA
ISO
associated with Obesity
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:20068143, PMID:21321189, PMID:24442997, PMID:25849131, PMID:26026874, PMID:19996381 RGD:9585759 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Sirt4 sirtuin 4 IEP RGD PMID:20651844 RGD:9586052 NCBI chr12:46,862,358...46,876,593
Ensembl chr12:46,868,416...46,876,592
JBrowse link
G Slc27a1 solute carrier family 27 member 1 IDA protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet RGD PMID:17400720 RGD:1642795 NCBI chr16:19,997,823...20,016,193
Ensembl chr16:19,999,112...20,016,190
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:15168018 RGD:1625638 NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO RGD PMID:11436180 RGD:1642802 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle
CTD Direct Evidence: therapeutic
CTD PMID:11947963, PMID:18778861 RGD:2313624 NCBI chr10:56,552,921...56,558,562
Ensembl chr10:56,552,983...56,558,487
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO associated with Diabetes Mellitus RGD PMID:15240880 RGD:1625677 NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
JBrowse link
G Socs3 suppressor of cytokine signaling 3 susceptibility ISO associated with Diabetes Mellitus
associated with Obesity
RGD PMID:15240880, PMID:17295835 RGD:1625677, RGD:2313789 NCBI chr10:106,973,863...106,976,969
Ensembl chr10:106,975,178...106,976,040
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22829583 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sod3 superoxide dismutase 3 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma RGD PMID:15171689 RGD:1625698 NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
JBrowse link
G Sorbs1 sorbin and SH3 domain containing 1 susceptibility ISO RGD PMID:17351624 RGD:1642731 NCBI chr 1:259,373,921...259,502,108
Ensembl chr 1:259,376,933...259,484,569
JBrowse link
G Sox6 SRY-box transcription factor 6 ISO RGD PMID:16148004 RGD:1581307 NCBI chr 1:185,631,702...186,186,192
Ensembl chr 1:185,673,177...186,182,829
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 susceptibility ISO
IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP
CTD Direct Evidence: marker/mechanism
associated with Fatty Liver;mRNA:increased expression:liver
CTD PMID:22658938, PMID:18692268, PMID:17241878 RGD:2308809, RGD:2308807 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
JBrowse link
G Srebf1_v2 sterol regulatory element binding factor 1, variant 2 IEP associated with Fatty Liver;mRNA:increased expression:liver RGD PMID:17241878 RGD:2308807
G Srebf2 sterol regulatory element binding transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20699619 NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
JBrowse link
G Stk11 serine/threonine kinase 11 IEP associated with obesity;protein:decreased expression:gastrocnemius RGD PMID:16352671 RGD:1601389 NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: therapeutic CTD PMID:24497646 NCBI chr  X:45,420,418...45,428,748
Ensembl chr  X:45,420,596...45,428,750
JBrowse link
G Syn1 synapsin I IEP RGD PMID:29566703 RGD:13542091 NCBI chr  X:1,321,315...1,379,202
Ensembl chr  X:1,321,315...1,379,198
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Insulin resistance ClinVar NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
JBrowse link
G Tcf7l2 transcription factor 7 like 2 ISO DNA:SNP (human) RGD PMID:19509102 RGD:2312433 NCBI chr 1:276,686,911...276,730,517
Ensembl chr 1:276,659,542...276,730,514
Ensembl chr 1:276,659,542...276,730,514
JBrowse link
G Tf transferrin IEP protein:increased expression:plasma RGD PMID:17350134 RGD:1601515 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Tfap2b transcription factor AP-2 beta ISO RGD PMID:16373417 RGD:1601544 NCBI chr 9:25,410,669...25,440,568
Ensembl chr 9:25,410,669...25,440,411
JBrowse link
G Thbd thrombomodulin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11453033 RGD:2312460 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tlr4 toll-like receptor 4 severity ISO associated with Obesity
protein:increased expression:skeletal muscle
RGD PMID:19675137, PMID:17426960, PMID:18633101 RGD:2312483, RGD:1620681, RGD:2312489 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor treatment IDA
IMP
ISO
IEP
associated with obesity
CTD Direct Evidence: marker/mechanism
associated with Obesity
CTD PMID:16493877, PMID:20943792, PMID:14764603, PMID:9832430, PMID:25016878 RGD:1580214, RGD:14995428, RGD:10450578 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO associated with obesity;protein:increased expression:serum RGD PMID:15936463 RGD:1620889 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression RGD PMID:11882518 RGD:1624180 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Trib3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20461355 NCBI chr 3:147,814,056...147,819,650
Ensembl chr 3:147,813,473...147,819,571
JBrowse link
G Tsc1 TSC complex subunit 1 ISO RGD PMID:15380067 RGD:1624197 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
G Ucp1 uncoupling protein 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human) RGD PMID:16338218 RGD:1624979 NCBI chr19:24,456,976...24,464,808
Ensembl chr19:24,456,976...24,464,807
JBrowse link
G Ucp2 uncoupling protein 2 ISO DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) RGD PMID:17870627 RGD:2313512 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
JBrowse link
G Ucp3 uncoupling protein 3 ISO DNA:polymorphism:promoter:-55C>T (human) RGD PMID:17870627, PMID:17571165 RGD:2313512, RGD:2313515 NCBI chr 1:165,482,912...165,495,895
Ensembl chr 1:165,482,155...165,496,206
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO RGD PMID:11882338 RGD:1580351 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:25801026 RGD:14402022 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16631442 RGD:1625711 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27325692, PMID:15486293 RGD:2326004 NCBI chr14:85,753,736...85,758,820
Ensembl chr14:85,753,760...85,758,145
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 chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
Metabolic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 susceptibility ISO DNA:SNP:exon:p.R230C (rs9282541) (human) RGD PMID:17287470 RGD:1601092 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain treatment IDA RGD PMID:25191539 RGD:10047118 NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Acat2 acetyl-CoA acetyltransferase 2 susceptibility ISO DNA:polymorphism RGD PMID:14557872 RGD:1581921 NCBI chr 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human)
CTD Direct Evidence: marker/mechanism
associated with vascular diseases; protein:decreased expression:plasma
protein:decreased expression:serum
CTD PMID:16793964, PMID:17618945, PMID:18162013, PMID:20833989, PMID:19690575, PMID:17893004, PMID:21625822, PMID:21976521 RGD:2313234, RGD:5686800, RGD:5686428, RGD:5686407 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphisms: :p.R16G, p.Q27E RGD
GAD
PMID:14557466, PMID:15118671 RGD:1601127, RGD:1331525 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Agt angiotensinogen IEP mRNA, protein:increased expression:adipose tissue RGD PMID:17260464 RGD:1601134 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a susceptibility ISO DNA:snp:3' utr:c.5186A>C RGD PMID:17211857 RGD:1601146 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring ISO RGD PMID:23569246 RGD:14349049 NCBI chr 9:94,228,960...94,232,001
Ensembl chr 9:94,228,960...94,232,001
JBrowse link
G Aldoa aldolase, fructose-bisphosphate A IEP mRNA:increased expression:aorta RGD PMID:21890532 RGD:13673877 NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated susceptibility ISO protein:increased expression:serum RGD PMID:16249437 RGD:1601174 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Apoa1 apolipoprotein A1 IEP
ISO
protein:decreased expression
DNA: polymorphism: :G2, G3 and G5
RGD PMID:17217166, PMID:21410987 RGD:1601183, RGD:5508220 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:decreased expression:serum RGD PMID:19817643 RGD:2313955 NCBI chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
JBrowse link
G Apoa5 apolipoprotein A5 susceptibility ISO DNA:polymorphism: :p.S19W (human) RGD PMID:18789138 RGD:2313315 NCBI chr 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:plasma RGD PMID:16828905 RGD:1601198 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoc3 apolipoprotein C3 susceptibility IEP
ISO
protein:increased expression:serum
DNA:polymorphism:promoter:-482C>T, -455T>C
RGD PMID:16298371, PMID:17416293 RGD:2306766, RGD:1601223 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apom apolipoprotein M ISO protein:decreased expression:plasma RGD PMID:19539616 RGD:2314236 NCBI chr20:5,120,473...5,123,073
Ensembl chr20:5,120,474...5,123,073
JBrowse link
G Atm ATM serine/threonine kinase ISO RGD PMID:17084711 RGD:1601248 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit IEP RGD PMID:23320804 RGD:13838660 NCBI chr15:36,561,306...36,590,171
Ensembl chr15:36,565,495...36,590,171
JBrowse link
G Bche butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15907830 RGD:1601317 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:11935372 RGD:1580935 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:21760737 RGD:6483594 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G C3 complement C3 ISO RGD PMID:16488421 RGD:2314030 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Capn10 calpain 10 ISO DNA:polymorphism RGD PMID:16546286 RGD:1625050 NCBI chr 9:100,104,000...100,112,833
Ensembl chr 9:100,104,000...100,112,832
JBrowse link
G Cck cholecystokinin ISO RGD PMID:17443025 RGD:1625798 NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16188961, PMID:18486454 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEP protein:increased secretion:plasma (rat) RGD PMID:19905967 RGD:4889977 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Cd36 CD36 molecule ISO
IAGP
DNA:SNPs: :multiple (human) RGD PMID:18305138, PMID:9916795 RGD:2307208, RGD:619666 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:16423632, PMID:20006362 RGD:2314214, RGD:5490591 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cela2a chymotrypsin like elastase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31358993 NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
JBrowse link
G Chek2 checkpoint kinase 2 IEP mRNA:increased expression:heart left ventricle (rat) RGD PMID:25129990 RGD:10400905 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO DNA:polymorphism:promoter:-168A>G (human) RGD PMID:17183695 RGD:5491201 NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16644639, PMID:21357282 RGD:6482318 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cst3 cystatin C ISO protein:increased expression:serum (human) RGD PMID:19887833 RGD:2314295 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Cyba cytochrome b-245 alpha chain IEP RGD PMID:16741160 RGD:2317864 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 susceptibility ISO DNA:polymorphism:promoter:-344C>T (human) RGD PMID:17261471 RGD:2307294 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 susceptibility ISO DNA:polymorphism:promoter:-344C>T (human) RGD PMID:17261471 RGD:2307294 NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:21990351 RGD:10401057 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
JBrowse link
G Dio2 iodothyronine deiodinase 2 ISO DNA:polymorphism: :p.T92A (human) RGD PMID:18198294 RGD:2313696 NCBI chr 6:114,475,156...114,489,443
Ensembl chr 6:114,476,142...114,476,723
JBrowse link
G Ephx2 epoxide hydrolase 2 IMP RGD PMID:22007192 RGD:5688391 NCBI chr15:42,757,241...42,794,211
Ensembl chr15:42,757,235...42,794,279
JBrowse link
G F3 coagulation factor III, tissue factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:12417540 RGD:2313865 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Fabp2 fatty acid binding protein 2 ISO RGD PMID:16919542 RGD:1626401 NCBI chr 2:227,080,912...227,083,654
Ensembl chr 2:227,080,924...227,083,501
JBrowse link
G Fabp4 fatty acid binding protein 4 ISO protein:increased expression:serum RGD PMID:16919044 RGD:1625406 NCBI chr 2:93,792,666...93,797,267
Ensembl chr 2:93,792,601...93,797,305
JBrowse link
G Fadd Fas associated via death domain IEP protein:increased expression:heart left ventricle RGD PMID:23657904 RGD:11344884 NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
JBrowse link
G Fgf19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr 1:218,058,405...218,061,693
Ensembl chr 1:218,058,405...218,061,693
JBrowse link
G Fgf21 fibroblast growth factor 21 treatment ISO RGD PMID:25306889 RGD:10401890 NCBI chr 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IEP RGD PMID:19374165, PMID:24868532 RGD:2307350, RGD:10449117 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gckr glucokinase regulator ISO RGD PMID:19861489 RGD:7242423 NCBI chr 6:26,355,296...26,385,761
Ensembl chr 6:26,355,296...26,385,761
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 susceptibility ISO RGD PMID:17095717, PMID:24847614 RGD:1601300, RGD:14747015 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO DNA:polymorphisms
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
In peritoneal dialysis patients
associated with Kidney Diseases;protein:decreased expression:serum
ClinVar PMID:11502844, PMID:12050239, PMID:12161552, PMID:16204371, PMID:16204371, PMID:18552255, PMID:18996292 RGD:1625021, RGD:7242555, RGD:2313748 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:29452132 RGD:14700976 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Hdac3 histone deacetylase 3 IEP RGD PMID:21763752 RGD:9590183 NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
JBrowse link
G Hgf hepatocyte growth factor ISO RGD PMID:15713721 RGD:1642702 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr20:7,132,501...7,140,155
Ensembl chr20:7,136,007...7,138,980
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase IMP RGD PMID:19461650 RGD:5508692 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:22193921 RGD:10763276 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO RGD PMID:16804065 RGD:1601642 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Hp haptoglobin treatment ISO
IDA
protein:increased expression RGD PMID:17007284, PMID:20508159 RGD:1626341, RGD:11041859 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 IEP RGD PMID:14697232 RGD:1625074 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632216, PMID:18515891, PMID:19142101 NCBI chr  X:118,084,520...118,318,040
Ensembl chr  X:118,084,890...118,318,039
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:19394054 RGD:2313467 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 susceptibility ISO RGD PMID:31064654 RGD:14985252 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Igf2 insulin-like growth factor 2 IAGP DNA:insertion RGD PMID:18418699 RGD:2311520 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO RGD PMID:16915540 RGD:1626481 NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
JBrowse link
G Il18 interleukin 18 treatment IEP
ISO
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:16644639, PMID:19717152, PMID:24456735 RGD:4889401, RGD:8655985 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16644639 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6r interleukin 6 receptor susceptibility ISO DNA:polymorphism: :p.D358A RGD PMID:16817825 RGD:1625430 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
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 1:166,898,177...166,912,524
Ensembl chr 1:166,899,894...166,912,524
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11274935, PMID:16259526 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Irs1 insulin receptor substrate 1 IEP protein:decreased expression:skeletal muscle RGD PMID:10842668 RGD:6482864 NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
JBrowse link
G Itgav integrin subunit alpha V ISO RGD PMID:16784924 RGD:1627640 NCBI chr 3:71,113,269...71,205,958
Ensembl chr 3:71,114,100...71,202,411
JBrowse link
G Kl Klotho IEP
ISO
mRNA:decreased expression:kidney: RGD PMID:11027545, PMID:11027545 RGD:10403056, RGD:10403056 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Lbp lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349936 NCBI chr 3:154,786,232...154,812,910
Ensembl chr 3:154,786,215...154,813,464
JBrowse link
G Lep leptin ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma (rat)
CTD PMID:16793964, PMID:18515891, PMID:19462476, PMID:25380250 RGD:2311125, RGD:10053625 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lipg lipase G, endothelial type ISO RGD PMID:16354105 RGD:1580865 NCBI chr18:70,903,528...70,924,434
Ensembl chr18:70,901,710...70,924,708
JBrowse link
G Lmna lamin A/C ISO DNA:SNP: :c.138747C>T (human) RGD PMID:15205219 RGD:2306121 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lrp6 LDL receptor related protein 6 ISO DNA:missense mutation:cds RGD PMID:17332414 RGD:2298725 NCBI chr 4:168,194,054...168,323,962
Ensembl chr 4:168,194,927...168,323,751
JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 susceptibility ISO associated with Coronary Disease;DNA:SNP:exon RGD PMID:14557872 RGD:1581921 NCBI chr14:80,911,281...80,923,290
Ensembl chr14:80,911,270...80,924,831
JBrowse link
G Mir122 microRNA 122 ISO miRNA:increased expression:serum RGD PMID:27899485 RGD:14401601 NCBI chr18:60,755,285...60,755,369 JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO
IAGP
protein:increased expression:plasma
DNA:repeats:intron
RGD PMID:17556870, PMID:15922301 RGD:1642337, RGD:1642345 NCBI chr 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448, PMID:17389588 NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
JBrowse link
G Ngf nerve growth factor ISO RGD PMID:11935372 RGD:1580935 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO
IDA
IMP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
CTD
ClinVar
PMID:12947532, PMID:15269839, PMID:20876122, PMID:28361419, PMID:28967023, PMID:29127233 RGD:13461762, RGD:13450928 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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:104,909,328...104,932,508
Ensembl chr  X:104,909,326...104,932,508
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr13:89,585,072...89,591,278
Ensembl chr13:89,586,283...89,591,277
JBrowse link
G Pla2g4a phospholipase A2 group IVA IEP mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
JBrowse link
G Pla2g6 phospholipase A2 group VI IEP mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
G Pla2g7 phospholipase A2 group VII IEP mRNA:increased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:serum RGD PMID:18249307 RGD:2311664 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21573798, PMID:14602783 RGD:1642618 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma no_association ISO
IDA
DNA:SNP: :p.P12A (human) RGD PMID:18959602, PMID:16186413, PMID:16183630 RGD:2301843, RGD:1580686, RGD:1580683 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:decreased expression:gastrocnemius muscle (rat) RGD PMID:20383225 RGD:10059661 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Prl prolactin ISO RGD PMID:16303834 RGD:1642558 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP protein:increased expression:liver RGD PMID:17883899 RGD:1642586 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Reg1a regenerating family member 1 alpha treatment IDA RGD PMID:21685239 RGD:10044029 NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
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 chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
JBrowse link
G Selp selectin P ISO RGD PMID:19061719 RGD:2312292 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Serpina12 serpin family A member 12 treatment ISO human protein in a mouse model RGD PMID:16030142 RGD:1547845 NCBI chr 6:127,696,501...127,711,238
Ensembl chr 6:127,696,252...127,711,212
JBrowse link
G Serpine1 serpin family E member 1 treatment IDA RGD PMID:26084260 RGD:11073736 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 chr10:56,219,861...56,237,354
Ensembl chr10:56,219,858...56,223,245
JBrowse link
G Sirt1 sirtuin 1 treatment IDA
ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:decreased expression:hippocampus (rat)
CTD PMID:20068143, PMID:21514307, PMID:25356430 RGD:9585758, RGD:10053569 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slc27a1 solute carrier family 27 member 1 susceptibility ISO RGD PMID:16611988 RGD:1642790 NCBI chr16:19,997,823...20,016,193
Ensembl chr16:19,999,112...20,016,190
JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility ISO DNA:SNPs RGD PMID:14557872 RGD:1581921 NCBI chr 7:143,754,892...143,767,989
Ensembl chr 7:143,754,892...143,767,989
JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:28875871 RGD:26923956 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tf transferrin susceptibility ISO protein:increased expression:serum RGD PMID:17416791 RGD:1601514 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP mRNA:increased expression:left heart ventricle RGD PMID:18692559 RGD:2306739 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Thbd thrombomodulin ISO associated with Diabetic Nephropathies;protein:increased expression:plasma RGD PMID:16567841 RGD:1601641 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:24441717 RGD:10450604 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with obesity;protein:increased expression:plasma RGD PMID:17200772 RGD:1624178 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Trib3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18497449 NCBI chr 3:147,814,056...147,819,650
Ensembl chr 3:147,813,473...147,819,571
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP RGD PMID:18718174 RGD:2313109 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:22206010 RGD:7483588 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16764036 RGD:1625709 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      gastrointestinal system disease 4672
        pancreas disease 1106
          endocrine pancreas disease 579
            abnormality of glucagon secretion 0
            gastrin secretion abnormality 0
            hyperinsulinism + 561
            hypoglycemia + 44
            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.