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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 LOC110260333 hydroxymethylglutaryl-CoA synthase, mitochondrial-like ISO OMIM NCBI chr 4:101,385,486...101,404,273
Ensembl chr 4:101,385,512...101,443,405
JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY ClinVar NCBI chr 4:101,445,977...101,478,144
Ensembl chr 4:101,408,308...101,478,144
JBrowse link
abdominal obesity-metabolic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,708...3,366,361
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,961,909
JBrowse link
abdominal obesity-metabolic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO protein:increased oxidation:cardiac muscle cell RGD PMID:23997093 RGD:13782087 NCBI chr14:31,674,659...31,744,981
Ensembl chr14:31,674,757...31,744,973
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,187,260...54,228,144
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,186,744...3,194,792
JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:30172001 RGD:13792561 NCBI chr14:100,927,305...100,954,781 JBrowse link
G LPL lipoprotein lipase treatment ISO RGD PMID:26996629 RGD:13794382 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G MTTP microsomal triglyceride transfer protein ISO OMIM NCBI chr 8:120,820,660...120,871,468
Ensembl chr 8:120,819,142...120,879,388
JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
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 6:84,735,253...84,774,554 JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B ISO OMIM NCBI chr 6:48,305,837...48,314,523
Ensembl chr 6:48,305,844...48,314,886
JBrowse link
Abdominal Obesity-Metabolic Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CELA2A chymotrypsin-like elastase family, member 2A ISO OMIM NCBI chr 6:74,691,653...74,707,598
Ensembl chr 6:74,691,653...74,707,598
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 6:49,543,671...49,560,126
Ensembl chr 6:49,540,907...49,560,126
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 6:144,206,078...144,229,471
Ensembl chr 6:144,206,077...144,293,709
JBrowse link
G TBX19 T-box transcription factor 19 ISO OMIM NCBI chr 4:82,663,121...82,699,261
Ensembl chr 4:82,663,581...82,697,813
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 OMIM NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,984
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 OMIM NCBI chr 6:159,038,129...159,061,327
Ensembl chr 6:159,036,821...159,061,327
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 DNA:mutations:exon:multiple
ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
ClinVar Annotator: match by term: familial hyperinsulinism
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
DNA:deletion: :p.S1387del (human)
CTD Direct Evidence: marker/mechanism
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:missense mutations, nonsense mutations, splice-site mutations:CDS:multiple
RGD
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:18596924, 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:20573158, PMID:20672374, PMID:20685672, PMID:20799350, PMID:20943781, PMID:21378087, PMID:21422196, 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 RGD:11067821, RGD:11069847, RGD:11070657, RGD:12743628, RGD:12790587, RGD:12790596, RGD:12790723, RGD:704365 NCBI chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
JBrowse link
G GCK glucokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15277402 NCBI chr18:50,979,167...51,024,500
Ensembl chr18:50,790,472...51,028,917
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO DNA:missense mutations: : RGD PMID:9571255 RGD:1302513 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO DNA:deletion:cds (human) RGD PMID:14693719 RGD:2306664 NCBI chr 8:113,952,561...114,005,510
Ensembl chr 8:113,950,033...114,005,512
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO DNA:mutations: :
ClinVar Annotator: match by term: Familial hyperinsulinism
RGD
ClinVar
PMID:10227563, PMID:10768098, PMID:10983627, PMID:15281001, PMID:15793260, PMID:15928245, PMID:16883527, PMID:16946562, PMID:18414213, PMID:20164212, 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 RGD:12904701 NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,503
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO DNA:missense mutation:exon:p.R34H (c.101G>A) (human)
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, frameshift mutations:CDS:multiple
DNA:deletion, insertion:exon
DNA:deletion, frameshift mutation, missense mutations:exon:multiple
DNA:SNPs:exon:c.151G>T, c.1017G>T (human)
RGD
ClinVar
CTD
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579781, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17316607, 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:23506826, PMID:23652837, PMID:24401662, PMID:24421282, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852 RGD:11069847, RGD:12743624, RGD:12743643, RGD:12790587, RGD:12790723 NCBI chr 2:41,756,637...41,760,340
Ensembl chr 2:41,757,356...41,765,555
JBrowse link
G KCNT2 potassium sodium-activated channel subfamily T member 2 ISO ClinVar Annotator: match by term: KCNT2-related condition ClinVar PMID:29069600
G TBC1D4 TBC1 domain family member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr11:47,543,808...47,760,928
Ensembl chr11:47,543,814...47,818,561
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 OMIM NCBI chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
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 2:41,756,637...41,760,340
Ensembl chr 2:41,757,356...41,765,555
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 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO OMIM NCBI chr 2:41,756,637...41,760,340
Ensembl chr 2:41,757,356...41,765,555
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 OMIM NCBI chr18:50,979,167...51,024,500
Ensembl chr18:50,790,472...51,028,917
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 OMIM NCBI chr 8:113,952,561...114,005,510
Ensembl chr 8:113,950,033...114,005,512
JBrowse link
G INSR insulin receptor ISO ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency ClinVar PMID:8288049, PMID:15161766, PMID:25741868, PMID:27896077 NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,139
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 OMIM NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,139
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 OMIM NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G SHLD2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr14:88,005,599...88,121,155
Ensembl chr14:88,005,590...88,121,383
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 OMIM NCBI chr 4:107,510,920...107,547,609
Ensembl chr 4:107,494,463...107,641,703
JBrowse link
hyperinsulinemic hypoglycemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Islet cell hyperplasia
ClinVar Annotator: match by term: Nesidioblastosis
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 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
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 2:41,756,637...41,760,340
Ensembl chr 2:41,757,356...41,765,555
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 RGD
ClinVar
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12199344, 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 RGD:1598639 NCBI chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
JBrowse link
G ADCYAP1 adenylate cyclase activating polypeptide 1 ISO RGD PMID:14742740 RGD:2325255 NCBI chr 6:105,414,628...105,422,294
Ensembl chr 6:105,414,630...105,422,295
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:16414018 RGD:1599145 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G ADIPOR1 adiponectin receptor 1 ISO mRNA:decreased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr10:24,907,491...24,923,540 JBrowse link
G ADIPOR2 adiponectin receptor 2 ISO mRNA:increased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr 5:68,755,789...68,807,247
Ensembl chr 5:68,755,811...68,807,235
JBrowse link
G ADM adrenomedullin ISO associated with Obesity;protein:increased expression:plasma RGD PMID:15789277 RGD:1625301 NCBI chr 2:49,229,223...49,231,521
Ensembl chr 2:49,229,223...49,231,866
JBrowse link
G ADRA1B adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480 RGD:1625772 NCBI chr16:63,550,123...64,010,838
Ensembl chr16:63,550,128...63,603,034
JBrowse link
G ADRB3 adrenoceptor beta 3 ISO associated with Obesity;mRNA:decreased expression:epidydimis, white fat RGD PMID:11014217 RGD:2313165 NCBI chr15:48,468,803...48,478,370 JBrowse link
G AGT angiotensinogen ISO associated with obesity;DNA:polymorphism: :p.M235T RGD PMID:16713443 RGD:1601142 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:16565309 RGD:1642975 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,131
JBrowse link
G BRD2 bromodomain containing 2 ISO RGD PMID:19883376 RGD:9586446 NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,150,658...25,165,433
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO mRNA, protein:increased expression:aorta (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17180354, PMID:29035695 RGD:8549642 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CD163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,146...63,334,498
JBrowse link
G CD40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO DNA:loss of heterozygosity:pancreatic islet RGD PMID:11723059 RGD:2311334 NCBI chr 2:2,019,391...2,022,092
Ensembl chr 2:2,019,490...2,021,853
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hyperinsulinemia ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 9:116,109,970...116,140,635
Ensembl chr 9:116,109,982...116,139,427
JBrowse link
G DDC dopa decarboxylase ISO protein:increased expression:pancreatic beta cell (human) RGD PMID:16403819 RGD:5129140 NCBI chr 9:136,496,364...136,571,220
Ensembl chr 9:136,495,891...136,571,197
JBrowse link
G FANCA FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,224...300,155
JBrowse link
G FANCC FA complementation group C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chr10:26,796,546...27,055,271 JBrowse link
G FBN1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link
G FOXA2 forkhead box A2 ISO RGD PMID:11445544 RGD:2313243 NCBI chr17:29,997,397...30,001,704
Ensembl chr17:29,997,400...30,001,707
JBrowse link
G GCG glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:3019152 NCBI chr15:68,800,557...68,810,268
Ensembl chr15:68,800,561...68,810,244
JBrowse link
G GCK glucokinase ISO hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
RGD
ClinVar
PMID:9435328 RGD:1601294 NCBI chr18:50,979,167...51,024,500
Ensembl chr18:50,790,472...51,028,917
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chr 3:73,028,750...73,086,191
Ensembl chr 3:72,983,188...73,085,319
JBrowse link
G GIP gastric inhibitory polypeptide ISO protein:decreased expression:plasma (rat) RGD PMID:8059006 RGD:2312550 NCBI chr12:25,160,783...25,167,952
Ensembl chr12:25,160,789...25,167,940
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
RGD
ClinVar
CTD
PMID:9571255, PMID:10636977, PMID:20670938, PMID:25741868, PMID:26467025 RGD:1601353, RGD:6484656 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GPX1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15184668, PMID:18560803 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,914,932...31,917,335
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive ClinVar PMID:28492532 NCBI chr 8:113,952,561...114,005,510
Ensembl chr 8:113,950,033...114,005,512
JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19171794
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
RGD
ClinVar
PMID:9267996, PMID:9313765, PMID:9449683, PMID:10983627, PMID:15793260, PMID:16883527, PMID:16917892, PMID:16946562, PMID:17407387, 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 RGD:12904698 NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,503
JBrowse link
G HP haptoglobin ISO protein:increased expression:serum RGD PMID:17598972 RGD:1626335 NCBI chr 6:14,980,382...14,985,245 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 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:2991050, PMID:3511099, PMID:4019786, PMID:6382002, PMID:9667398 RGD:1625121 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
JBrowse link
G INSR insulin receptor ISO DNA:missense mutation: :p.P1195L (mouse)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10949030, PMID:18411068, PMID:21549686 RGD:10403034, RGD:1302523 NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,139
JBrowse link
G IREB2 iron responsive element binding protein 2 ISO protein:increased expression:liver (rat) RGD PMID:25385842 RGD:12903966 NCBI chr 7:47,481,539...47,529,199
Ensembl chr 7:47,479,629...47,529,227
JBrowse link
G IRS1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734900 NCBI chr15:128,245,846...128,307,321
Ensembl chr15:128,245,846...128,308,335
JBrowse link
G ITGAM integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,136,161...17,273,657
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO protein:substitution: :p.H259R (human)
ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive
RGD
ClinVar
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:15998776, 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 RGD:1625277 NCBI chr 2:41,756,637...41,760,340
Ensembl chr 2:41,757,356...41,765,555
JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9826672, PMID:22948215 RGD:12904911 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:3519326, PMID:15093691, PMID:22949526, PMID:24384915, PMID:25222487, PMID:26537785, PMID:29988851, PMID:30689673 RGD:12911216 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,798,979...146,896,108
JBrowse link
G LIPC lipase C, hepatic type 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:1592086, PMID:7047662, PMID:11095452 RGD:2308794, RGD:2308800, RGD:2308844 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
JBrowse link
G LTA lymphotoxin alpha ISO associated with Coronary Arteriosclerosis RGD PMID:9726033 RGD:1625034 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,039...23,698,302
JBrowse link
G MC4R melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23251400 NCBI chr 1:160,772,013...160,774,124
Ensembl chr 1:160,772,013...160,774,124
JBrowse link
G MGRN1 mahogunin ring finger 1 ISO RGD PMID:16638826 RGD:1641947 NCBI chr 3:37,694,798...37,748,106
Ensembl chr 3:37,689,708...37,748,068
JBrowse link
G MRC1 mannose receptor C-type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr10:44,107,926...44,226,734
Ensembl chr10:44,107,072...44,244,410
JBrowse link
G MTTP microsomal triglyceride transfer protein susceptibility ISO DNA:polymorphism:promoter:-493G>T RGD PMID:11849654 RGD:1625490 NCBI chr 8:120,820,660...120,871,468
Ensembl chr 8:120,819,142...120,879,388
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 NCBI chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,761...58,283,092
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:19008412 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NPY5R neuropeptide Y receptor Y5 ISO RGD PMID:15187000 RGD:1625494 NCBI chr 8:52,173,906...52,183,336
Ensembl chr 8:52,174,299...52,183,334
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 chr13:121,758,734...121,813,679 JBrowse link
G PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO associated with Obesity;protein:increased expression:liver RGD PMID:9705027 RGD:2302681 NCBI chr  X:47,771,751...47,859,079
Ensembl chr  X:47,759,307...47,859,078
JBrowse link
G PKLR pyruvate kinase L/R ISO mRNA:increased expression:liver RGD PMID:14766002 RGD:1625581 NCBI chr 4:94,536,978...94,546,561
Ensembl chr 4:94,536,954...94,547,591
JBrowse link
G PRKCD protein kinase C delta ISO RGD PMID:8826977 RGD:1625605 NCBI chr13:35,290,835...35,323,245
Ensembl chr13:35,290,264...35,323,356
JBrowse link
G PRKCQ protein kinase C theta ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus RGD PMID:8826977 RGD:1625605 NCBI chr10:64,442,588...64,596,528
Ensembl chr10:64,443,251...64,600,339
JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:ovary RGD PMID:18421022 RGD:2292519 NCBI chr14:99,929,590...100,021,619 JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: therapeutic CTD PMID:28899902 NCBI chr17:52,017,100...52,086,747
Ensembl chr17:52,017,104...52,086,736
JBrowse link
G PTPRF protein tyrosine phosphatase receptor type F ISO protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced RGD PMID:11309481 RGD:1642735 NCBI chr 6:167,656,674...167,743,750
Ensembl chr 6:167,656,680...167,743,721
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased phosphorylation:liver, skeletal muscle RGD PMID:15692808 RGD:1643026 NCBI chr12:36,111,584...36,159,287 JBrowse link
G SCD stearoyl-CoA desaturase ISO associated with Obesity RGD PMID:16284748 RGD:1580005 NCBI chr14:111,461,560...111,478,033
Ensembl chr14:111,461,560...111,478,031
JBrowse link
G SHLD2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar NCBI chr14:88,005,599...88,121,155
Ensembl chr14:88,005,590...88,121,383
JBrowse link
G SLC16A1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar PMID:25741868 NCBI chr 4:107,510,920...107,547,609
Ensembl chr 4:107,494,463...107,641,703
JBrowse link
G SLC27A1 solute carrier family 27 member 1 ISO protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle RGD PMID:15281014 RGD:1642794 NCBI chr 2:60,203,374...60,235,689
Ensembl chr 2:60,203,374...60,235,652
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TSC22D3 TSC22 domain family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22556341 NCBI chr  X:88,171,325...88,233,583
Ensembl chr  X:88,171,329...88,233,964
JBrowse link
G TXNIP thioredoxin interacting protein susceptibility ISO DNA:nonsense mutation RGD PMID:15047687 RGD:1642753 NCBI chr 4:99,348,589...99,351,760
Ensembl chr 4:99,348,575...99,352,241
JBrowse link
hypoglycemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 ISO RGD PMID:18776135 RGD:2301896 NCBI chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
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:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388
JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISO RGD PMID:21979934 RGD:7248543 NCBI chr 6:48,555,785...48,620,472
Ensembl chr 6:48,555,789...48,587,919
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15454078 NCBI chr 5:69,016,954...69,448,428 JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO RGD PMID:11557984 RGD:734816 NCBI chr15:110,705,548...110,773,037
Ensembl chr15:110,697,408...110,771,755
JBrowse link
G CRH corticotropin releasing hormone ISO RGD PMID:12606499 RGD:704397 NCBI chr 4:68,481,696...68,486,122
Ensembl chr 4:68,483,977...68,486,118
JBrowse link
G EPO erythropoietin ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma RGD PMID:19211168 RGD:2313835 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
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 chr12:19,965,885...19,975,783
Ensembl chr12:19,962,934...19,976,050
JBrowse link
G GCK glucokinase ISO hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M RGD PMID:9435328 RGD:1601294 NCBI chr18:50,979,167...51,024,500
Ensembl chr18:50,790,472...51,028,917
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A RGD PMID:10636977 RGD:1601353 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO mRNA, protein:increased expression:cerebellum (rat) RGD PMID:20056114 RGD:4107025 NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,526...58,927,583
JBrowse link
G GSR glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,989
JBrowse link
G HDAC8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Hypoglycaemia ClinVar PMID:30311386 NCBI chr  X:58,210,182...58,450,681 JBrowse link
G HNF1A HNF1 homeobox A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787664 NCBI chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO associated with Hyperinsulinemia;DNA:frameshift mutation, nonsense mutation, splice-site mutation RGD PMID:17407387, PMID:18268044 RGD:12904698, RGD:2301837 NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,503
JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3185662 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO RGD PMID:11343120 RGD:737755 NCBI chr 9:6,793,971...6,807,286
Ensembl chr 9:6,792,884...6,808,028
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:48835, PMID:1324617, PMID:1646414, PMID:1890151, PMID:2554359, PMID:20620209, PMID:22940631 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Hypoglycemia ClinVar PMID:25741868 NCBI chr 6:103,451,206...103,593,093
Ensembl chr 6:103,451,343...103,597,324
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO RGD PMID:9988280 RGD:737788 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,434,873...46,523,609
JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO associated with Diabetes Mellitus, Experimental; mRNA:decreased expression:adrenal gland (rat) RGD PMID:15494609 RGD:5130725 NCBI chr12:22,648,396...22,651,520
Ensembl chr12:22,648,397...22,650,002
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16777972 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,708...3,366,361
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 chr18:31,997,667...32,039,949
Ensembl chr18:31,997,713...32,039,853
JBrowse link
G PRL prolactin ISO associated with Hypertension RGD PMID:16617309 RGD:1642557 NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,741
JBrowse link
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17659342 NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,604,285...115,614,633
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G TH tyrosine hydroxylase ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat) RGD PMID:16396986 RGD:5130724 NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,618...1,506,615
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8774068 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G UCP3 uncoupling protein 3 ISO RGD PMID:10935638 RGD:737762 NCBI chr 9:8,378,023...8,389,452
Ensembl chr 9:8,378,019...8,386,211
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 OMIM NCBI chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
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 OMIM NCBI chr 6:48,555,785...48,620,472
Ensembl chr 6:48,555,789...48,587,919
JBrowse link
Insulin Resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACACA acetyl-CoA carboxylase alpha ISO RGD PMID:16485039 RGD:1625727 NCBI chr12:38,580,916...38,875,067
Ensembl chr12:38,581,449...38,875,134
JBrowse link
G ACACB acetyl-CoA carboxylase beta ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16485039, PMID:22658938 RGD:1625727 NCBI chr14:41,621,574...41,739,916 JBrowse link
G ACP1 acid phosphatase 1 ISO associated with Obesity RGD PMID:17353188 RGD:2313180 NCBI chr 3:132,671,408...132,684,793 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 chr15:45,866,858...45,936,327
Ensembl chr15:45,866,851...46,090,099
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing treatment ISO CTD Direct Evidence: therapeutic
associated with Hypertension
RGD
CTD
PMID:16041833, PMID:18931039, PMID:21484566, PMID:21872431, PMID:23089228 RGD:1599150, RGD:8695928, RGD:8695951 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
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 chr10:24,907,491...24,923,540 JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment ISO RGD PMID:24797033, PMID:30225267 RGD:21406435, RGD:25824940 NCBI chr 5:68,755,789...68,807,247
Ensembl chr 5:68,755,811...68,807,235
JBrowse link
G ADORA1 adenosine A1 receptor treatment ISO associated with Obesity RGD PMID:11703426, PMID:15220221 RGD:1625243, RGD:2313807 NCBI chr 9:113,835,279...113,875,899
Ensembl chr 9:113,835,920...113,875,719
JBrowse link
G ADRA1B adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480 RGD:1625772 NCBI chr16:63,550,123...64,010,838
Ensembl chr16:63,550,128...63,603,034
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO DNA:polymorphisms: :p.R16G
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11510954, PMID:15699455, PMID:19034036 RGD:1598757, RGD:1601125 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,032,782...150,035,591
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:2313158, RGD:5684421 NCBI chr15:48,468,803...48,478,370 JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO protein:increased expression:dorsal root ganglion, neuron RGD PMID:22357959 RGD:6903873 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25734695 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
JBrowse link
G AHSG alpha 2-HS glycoprotein susceptibility ISO protein:increased expression:plasma RGD PMID:16567827, PMID:17011519 RGD:1625793, RGD:1625794 NCBI chr13:124,426,313...124,438,848
Ensembl chr13:124,426,308...124,438,840
JBrowse link
G AKT2 AKT serine/threonine kinase 2 no_association ISO DNA:SNPs RGD PMID:17327441 RGD:1601155 NCBI chr 6:48,555,785...48,620,472
Ensembl chr 6:48,555,789...48,587,919
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member treatment ISO protein:altered expression, altered activity:liver (rat) RGD PMID:28688179 RGD:14981582 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:19787041 RGD:5509625 NCBI chr12:52,287,174...52,295,873
Ensembl chr12:52,286,019...52,414,907
JBrowse link
G APLN apelin ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chr  X:106,236,746...106,246,563
Ensembl chr  X:106,236,748...106,246,378
JBrowse link
G APOA2 apolipoprotein A2 ISO RGD PMID:11246886 RGD:2313957 NCBI chr 4:89,237,514...89,239,126
Ensembl chr 4:89,237,511...89,240,320
JBrowse link
G APOC3 apolipoprotein C3 susceptibility
treatment
ISO RGD PMID:15007394, PMID:15734841 RGD:1580750, RGD:1601226 NCBI chr 9:44,211,171...44,213,538 JBrowse link
G AR androgen receptor ISO associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16793958, PMID:17332526, PMID:21444647 RGD:1601244, RGD:2306773 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,805,578
JBrowse link
G ARG1 arginase 1 ISO protein:decreased activity:liver (rat) RGD PMID:20593143 RGD:4142796 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ATM ATM serine/threonine kinase ISO protein:decreased expression:muscle: RGD PMID:18534819 RGD:8693659 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO mRNA:increased expression:skeletal muscle RGD PMID:14576983 RGD:1601252 NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,291,344...90,396,160
JBrowse link
G BAD BCL2 associated agonist of cell death ISO protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart RGD PMID:21385329 RGD:10053645 NCBI chr 2:7,831,192...7,842,864
Ensembl chr 2:7,830,920...7,842,863
JBrowse link
G BCHE butyrylcholinesterase ISO RGD PMID:17917325 RGD:2306776 NCBI chr13:104,946,732...105,007,568 JBrowse link
G BDKRB1 bradykinin receptor B1 ISO RGD PMID:17618300, PMID:17988733 RGD:5129214, RGD:5129217 NCBI chr 7:117,491,350...117,492,410
Ensembl chr 7:117,491,350...117,492,410
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO RGD PMID:25934999 RGD:11085488 NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,888
JBrowse link
G C1R complement C1r ISO protein:increased expression:adipocyte RGD PMID:17244723 RGD:1600551 NCBI chr 5:63,644,097...63,655,149 JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18615583 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G CAPN10 calpain 10 ISO DNA:SNP:intron:rs3792267 (human) RGD PMID:11018080 RGD:7247736 NCBI chr15:139,557,643...139,568,764
Ensembl chr15:139,557,666...139,570,181
JBrowse link
G CASP1 caspase 1, apoptosis-related cysteine peptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22325453 NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:29748970 RGD:13782289 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,749...45,763,773
JBrowse link
G CASP8 caspase 8 ISO RGD PMID:29748970 RGD:13782289 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,470
JBrowse link
G CAT catalase ISO associated with Obesity RGD PMID:19188683 RGD:5130761 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CBLB Cbl proto-oncogene B ISO RGD PMID:17601987 RGD:2314038 NCBI chr13:153,480,525...153,700,115
Ensembl chr13:153,395,978...153,700,064
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human)
CTD
RGD
PMID:18762729, PMID:22983634, PMID:29035695 RGD:2306985, RGD:8548844 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CD163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,146...63,334,498
JBrowse link
G CD36 CD36 molecule ISO associated with Diabetes Mellitus, Type 2
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11175782, PMID:12923231, PMID:14640889, PMID:15231693, PMID:25477422 RGD:11040926, RGD:11041132, RGD:2307217, RGD:68930 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G CD40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695
JBrowse link
G CNR1 cannabinoid receptor 1 ISO associated with Obesity RGD PMID:19553924 RGD:2314662 NCBI chr 1:56,466,022...56,493,275
Ensembl chr 1:56,466,027...56,492,602
JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr 8:135,130,486...135,150,428
Ensembl chr 8:135,130,479...135,155,348
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 chr11:21,234,447...21,298,250
Ensembl chr11:21,234,447...21,298,244
JBrowse link
G CPE carboxypeptidase E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15358678 NCBI chr 8:43,568,744...43,695,475
Ensembl chr 8:43,503,667...43,695,628
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 chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
JBrowse link
G DIO2 iodothyronine deiodinase 2 ISO DNA:SNP: :rs225014, p.T92A (human) RGD PMID:11872697 RGD:2313698 NCBI chr 7:103,096,414...103,110,749
Ensembl chr 7:103,096,425...103,323,258
JBrowse link
G DRD1 dopamine receptor D1 ISO associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule RGD PMID:15798088 RGD:2302119 NCBI chr16:49,189,555...49,193,722
Ensembl chr16:49,188,936...49,193,709
JBrowse link
G ECH1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chr 6:47,627,056...47,638,961
Ensembl chr 6:47,627,056...47,639,437
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22238402 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,478,882
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO DNA:polymorphism:K121Q
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
RGD
ClinVar
PMID:10480624, PMID:11739459, PMID:14671192, PMID:14988267, PMID:15001634, PMID:15126519, PMID:16025115, PMID:16607460, PMID:16968801 RGD:1601043 NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595
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 chr11:78,512,389...78,518,668
Ensembl chr11:78,512,158...78,518,671
JBrowse link
G FABP2 fatty acid binding protein 2 no_association ISO DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups
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:14981227, PMID:16311100, PMID:17211557 RGD:1300314, RGD:1578456, RGD:1626400, RGD:1626407 NCBI chr 8:104,464,342...104,468,059
Ensembl chr 8:104,464,342...104,470,480
JBrowse link
G FABP3 fatty acid binding protein 3 severity ISO RGD PMID:16249436 RGD:1578459 NCBI chr 6:87,943,003...87,950,708
Ensembl chr 6:87,942,790...87,951,610
JBrowse link
G FABP4 fatty acid binding protein 4, adipocyte ISO RGD PMID:17391165 RGD:1625407 NCBI chr 4:55,096,400...55,101,209
Ensembl chr 4:55,096,404...55,101,897
JBrowse link
G FANCA FA complementation group A ISO RGD PMID:22482891 RGD:11046266 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,224...300,155
JBrowse link
G FANCC FA complementation group C ISO RGD PMID:22482891 RGD:11046266 NCBI chr10:26,796,546...27,055,271 JBrowse link
G FAS Fas cell surface death receptor treatment ISO associated with hypothalamic disease RGD PMID:29522769 RGD:13792596 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FGF19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr 2:3,583,027...3,586,985
Ensembl chr 2:3,583,027...3,587,825
JBrowse link
G FIS1 fission, mitochondrial 1 ISO protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr 3:8,938,250...8,942,102
Ensembl chr 3:8,931,104...8,941,865
JBrowse link
G FOXC2 forkhead box C2 ISO DNA:polymorphism:5'ut:-512C>T RGD PMID:12453913 RGD:1601219 NCBI chr 6:2,552,141...2,555,041
Ensembl chr 6:2,552,862...2,554,367
JBrowse link
G FOXO1 forkhead box O1 ISO mRNA:increased expression:adipose tissue: RGD PMID:16041833 RGD:1599150 NCBI chr11:15,317,222...15,410,059
Ensembl chr11:15,317,124...15,410,473
JBrowse link
G FXN frataxin ISO DNA:repeats:intron:GAA (human) RGD PMID:10969848 RGD:2307049 NCBI chr 1:222,412,485...222,433,224
Ensembl chr 1:222,412,500...222,461,943
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO associated with Obesity;protein:increased expression:pancreas RGD PMID:23015612 RGD:10449129 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G GCK glucokinase ISO protein:increased expression:pancreatic islet RGD PMID:19039094 RGD:7488970 NCBI chr18:50,979,167...51,024,500
Ensembl chr18:50,790,472...51,028,917
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chr 3:73,028,750...73,086,191
Ensembl chr 3:72,983,188...73,085,319
JBrowse link
G GNAS GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:17062894 NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021
JBrowse link
G GNB3 G protein subunit beta 3 ISO DNA:polymorphism: :825C>T (human) RGD PMID:12624279 RGD:1580411 NCBI chr 5:63,863,656...63,871,352
Ensembl chr 5:63,863,661...63,870,433
JBrowse link
G GPX3 glutathione peroxidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270708 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO RGD PMID:15994203 RGD:1625791 NCBI chr 2:5,209,435...5,227,543
Ensembl chr 2:5,209,436...5,227,748
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 7:46,635,903...46,656,491
Ensembl chr 7:46,610,467...46,656,451
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 6:54,234,600...54,250,211
Ensembl chr 6:54,233,050...54,250,261
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:17350134 RGD:1601515 NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,159...44,787,307
JBrowse link
G HMGA1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr 7:30,320,090...30,329,413 JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic
mRNA:decreased expression:muscle:defective protection against oxidative stress
CTD
RGD
PMID:12941774, PMID:18375438, PMID:19171794 RGD:1601621
G HNF1A HNF1 homeobox A ISO mRNA:decreased expression:adipocyte
ClinVar Annotator: match by term: Serum hdl cholesterol level, modifier of
RGD
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:15094374, 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 RGD:1601482 NCBI chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21786805 NCBI chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:18948349 RGD:10402862 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,527
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO associated with Peripheral Vascular Diseases RGD PMID:17062970 RGD:1624367 NCBI chr11:20,555,939...20,620,225
Ensembl chr11:20,555,961...20,619,629
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:serum
associated with Obesity;protein:increased secretion:plasma (human)
RGD PMID:11782876, PMID:19394054 RGD:1625753, RGD:2313467 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17726072 NCBI chr 3:40,173,595...40,177,789
Ensembl chr 3:40,174,764...40,177,785
JBrowse link
G IGFBP2 insulin like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17259371, PMID:22537059 RGD:1626479 NCBI chr15:118,822,092...118,850,985
Ensembl chr15:118,822,047...118,850,976
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO RGD PMID:17237715 RGD:2313762 NCBI chr18:50,002,921...50,009,425 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 5:18,352,884...18,357,225 JBrowse link
G IGFBP7 insulin like growth factor binding protein 7 ISO protein:increased expression:serum RGD PMID:16873698 RGD:1626516 NCBI chr 8:56,283,089...56,357,822
Ensembl chr 8:56,279,894...56,357,835
JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11533494, PMID:19073766, PMID:29036520 RGD:10045961, RGD:7495768 NCBI chr17:11,289,607...11,348,557
Ensembl chr17:11,289,690...11,348,553
JBrowse link
G IL18 interleukin 18 treatment ISO associated with Graves Disease RGD PMID:16732281, PMID:23257837 RGD:14695532, RGD:8655938 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL6 interleukin 6 ISO mRNA:increased expression:islet of Langerhans
associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat)
RGD PMID:19328014, PMID:21826222 RGD:10402828, RGD:2307252 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G IL6R interleukin 6 receptor ISO protein:decreased expression:serum RGD PMID:14962155 RGD:1625431 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,426...95,381,282
JBrowse link
G IL7 interleukin 7 ISO CTD Direct Evidence: therapeutic CTD PMID:20376352 NCBI chr 4:57,677,895...57,744,713
Ensembl chr 4:57,685,069...57,753,797
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO associated with Metabolic Syndrome X RGD PMID:12453826, PMID:17327370 RGD:2312440, RGD:2312442 NCBI chr 9:6,793,971...6,807,286
Ensembl chr 9:6,792,884...6,808,028
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:3322910, PMID:11522680, PMID:24648896, PMID:25796170 RGD:2311112 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
JBrowse link
G INSR insulin receptor disease_progression
treatment
ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Insulin resistance
mRNA, protein:decreased expression:liver (rat)
CTD
ClinVar
RGD
PMID:1314826, PMID:1890161, PMID:1963473, PMID:8202531, PMID:10949030, PMID:11887975, PMID:23538485, PMID:26300412, PMID:27896077 RGD:10403037, RGD:11529553, RGD:1302523 NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,139
JBrowse link
G IRS1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
DNA:polymorphism:exon:G972R
CTD
ClinVar
RGD
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 RGD:1624973 NCBI chr15:128,245,846...128,307,321
Ensembl chr15:128,245,846...128,308,335
JBrowse link
G IRS2 insulin receptor substrate 2 ISO DNA:polymorphism:exon:G1057D
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15811564, PMID:25808216 RGD:1625025 NCBI chr11:76,626,158...76,654,639
Ensembl chr11:76,626,179...76,653,881
JBrowse link
G ITGAM integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,136,161...17,273,657
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032110 NCBI chr 2:41,756,637...41,760,340
Ensembl chr 2:41,757,356...41,765,555
JBrowse link
G KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 ISO mRNA, protein:decreased expression:aorta, mesenteric artery RGD PMID:21425425 RGD:10412047 NCBI chr16:53,616,532...53,631,197
Ensembl chr16:53,618,603...53,631,197
JBrowse link
G KLF11 Kruppel like factor 11 ISO RGD PMID:18505768 RGD:2311539 NCBI chr 3:126,419,011...126,429,890
Ensembl chr 3:126,418,996...126,429,904
JBrowse link
G KLF14 Kruppel like factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29632379 NCBI chr18:18,147,124...18,149,177
Ensembl chr18:18,147,124...18,149,177
JBrowse link
G KLK1 kallikrein 1 ISO RGD PMID:17272402 RGD:1641794 NCBI chr 6:55,570,632...55,576,398
Ensembl chr 6:55,570,630...55,576,637
JBrowse link
G LEP leptin ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Obesity
DNA:nonsense mutation:cds:
RGD
CTD
PMID:10753628, PMID:11342529, PMID:19296906, PMID:19419916, PMID:23800849, PMID:24150608 RGD:2311127, RGD:5128697, RGD:8549777 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
JBrowse link
G LEPR leptin receptor ISO associated with Obesity;DNA:polymorphism: :p.K656N (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K656N (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18413223, PMID:18632178, PMID:19452630, PMID:20567778, PMID:23154293, PMID:25367288, PMID:28611668, PMID:29988851, PMID:30689673 RGD:13432147, RGD:2311138, RGD:2311142 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,798,979...146,896,108
JBrowse link
G LIPC lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:15504970 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
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 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G LOC100516390 ankyrin repeat domain-containing protein 26 ISO RGD PMID:18162531 RGD:9681744 NCBI chr10:48,694,806...48,795,783 JBrowse link
G LOC100736818 cardiotrophin-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr 3:17,539,927...17,545,250
Ensembl chr 3:17,540,499...17,545,240
JBrowse link
G LOC110258578 interleukin-1 beta-like treatment ISO associated with Obesity;mRNA:increased expression:adipose tissue
associated with hypothalamic disease
RGD PMID:16865359, PMID:29522769 RGD:13792596, RGD:1626632
G LPIN1 lipin 1 ISO RGD PMID:17563064 RGD:1641822 NCBI chr 3:124,940,557...125,074,137
Ensembl chr 3:124,940,548...125,074,123
JBrowse link
G LPL lipoprotein lipase ISO RGD PMID:18952837 RGD:2313300 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G LTA lymphotoxin alpha no_association ISO DNA:polymorphism RGD PMID:9245742 RGD:1625035 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,039...23,698,302
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO associated with polycystic ovary syndrome RGD PMID:23349861 RGD:13800789 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
JBrowse link
G MC4R melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18454146 NCBI chr 1:160,772,013...160,774,124
Ensembl chr 1:160,772,013...160,774,124
JBrowse link
G METRNL meteorin like, glial cell differentiation regulator ISO CTD Direct Evidence: therapeutic CTD PMID:30213948 NCBI chr12:228,228...241,491
Ensembl chr12:228,503...241,496
JBrowse link
G MFN2 mitofusin 2 treatment ISO RGD PMID:24715199 RGD:13204838 NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,026,722...72,056,439
JBrowse link
G MIF macrophage migration inhibitory factor ISO protein:increased expression:plasma RGD PMID:12552367 RGD:1641955 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,862,317
JBrowse link
G MIR125A microRNA mir-125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr 6:58,331,566...58,331,645
Ensembl chr 6:58,331,566...58,331,645
JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:serum RGD PMID:27711113, PMID:29479888 RGD:24922220, RGD:25671464 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G MRC1 mannose receptor C-type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr10:44,107,926...44,226,734
Ensembl chr10:44,107,072...44,244,410
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase ISO associated with Polycystic Ovary Syndrome;protein:increased expression:serum RGD PMID:17582143 RGD:1642341 NCBI chr 9:106,119,896...106,162,126
Ensembl chr 9:106,119,899...106,294,587
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,761...58,283,092
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO associated with obesity; protein:decreased expression:hepatocyte: RGD PMID:32102936 RGD:21201281 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
JBrowse link
G NOS2 nitric oxide synthase 2 ISO mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat) RGD PMID:21846719, PMID:22023455 RGD:5509041, RGD:5509075 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic
protein:decreased expression:serum
RGD
CTD
PMID:11457755, PMID:12716763, PMID:12947532, PMID:18298918, PMID:19008412, PMID:28946194 RGD:13450950, RGD:2292098 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NPPB natriuretic peptide B ISO associated with Obesity and Hypertension;protein:decreased expression:serum RGD PMID:17392814 RGD:1642192 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 susceptibility ISO RGD PMID:16557297 RGD:1625076 NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,288...83,684,604
JBrowse link
G NR4A3 nuclear receptor subfamily 4 group A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chr 1:241,569,867...241,611,735
Ensembl chr 1:241,569,905...241,611,734
JBrowse link
G PARL presenilin associated rhomboid like ISO mRNA:decreased expression:gastrocnemius (rat) RGD PMID:19859837 RGD:12880442 NCBI chr13:121,758,734...121,813,679 JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:pancreatic islet (mouse)
protein:increased expression:pancreatic duct (rat)
RGD PMID:16046294, PMID:18288891 RGD:2311222, RGD:2311223 NCBI chr11:5,303,609...5,309,063
Ensembl chr11:5,303,639...5,310,843
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10426374, PMID:14714311, PMID:16332940, PMID:17283057 RGD:1625211, RGD:1625212, RGD:1625262 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,434,873...46,523,609
JBrowse link
G PKLR pyruvate kinase L/R ISO mRNA, protein:decreased expression:liver RGD PMID:12958186 RGD:1625583 NCBI chr 4:94,536,978...94,546,561
Ensembl chr 4:94,536,954...94,547,591
JBrowse link
G PLA2G1B phospholipase A2 group IB susceptibility ISO RGD PMID:12376327 RGD:1302550 NCBI chr14:40,314,520...40,322,315
Ensembl chr14:40,314,444...40,322,319
JBrowse link
G PLAC8 placenta associated 8 ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr 8:135,250,761...135,279,091 JBrowse link
G PLEKHS1 pleckstrin homology domain containing S1 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr14:124,068,099...124,104,042
Ensembl chr14:124,068,439...124,102,970
JBrowse link
G PLIN2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 1:203,683,867...203,709,277
Ensembl chr 1:203,683,862...203,709,274
JBrowse link
G PLTP phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr17:48,089,789...48,101,604
Ensembl chr17:48,089,785...48,101,515
JBrowse link
G PMCH pro-melanin concentrating hormone ISO RGD PMID:16002548 RGD:1642484 NCBI chr 5:82,018,915...82,020,267
Ensembl chr 5:82,018,915...82,020,818
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 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:16168052, PMID:19322024, PMID:21324916 RGD:5683642 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,708...3,366,361
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:2313780, RGD:2324897 NCBI chr 7:31,222,533...31,295,221
Ensembl chr 7:31,222,589...31,295,212
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: therapeutic
DNA:nonsense mutation
CTD
RGD
PMID:12118251, PMID:16168052, PMID:21354099, PMID:21484566 RGD:1601446 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,655...68,433,947
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO DNA:missense mutation:cds:p.G482S rs8192678 (human)
mRNA:decreased expression:liver (rat)
RGD PMID:22658649, PMID:23449621 RGD:7241821, RGD:7242170 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,961,909
JBrowse link
G PPARGC1B PPARG coactivator 1 beta ISO RGD PMID:16896940 RGD:1642499 NCBI chr 2:150,823,338...150,924,871
Ensembl chr 2:150,823,373...150,919,378
JBrowse link
G PPP1R3A protein phosphatase 1 regulatory subunit 3A ISO DNA:polymorphism:exon:p.D905Y (human)
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
DNA:nonsense mutation
RGD
ClinVar
PMID:7581368, PMID:12118251, PMID:30311386 RGD:1601446, RGD:1601468 NCBI chr18:31,997,667...32,039,949
Ensembl chr18:31,997,713...32,039,853
JBrowse link
G PRDX3 peroxiredoxin 3 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr14:129,079,050...129,090,790
Ensembl chr14:129,079,052...129,090,788
JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism
associated with Obesity
CTD
RGD
PMID:19934007, PMID:22231922 RGD:6484545 NCBI chr16:25,745,902...25,783,524
Ensembl chr16:25,745,321...25,783,610
JBrowse link
G PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 susceptibility ISO DNA:SNPs
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16567511, PMID:19934007 RGD:1625266 NCBI chr 6:155,683,392...155,754,283
Ensembl chr 6:155,681,781...155,754,272
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,202
JBrowse link
G PRKCB protein kinase C beta ISO RGD PMID:12665248 RGD:1625515 NCBI chr 3:21,995,227...22,383,628
Ensembl chr 3:21,995,231...22,383,264
JBrowse link
G PRKCD protein kinase C delta ISO protein:altered localization:nucleus
associated with Obesity;protein:increased activity:adipocyte
RGD PMID:12217885, PMID:15507533 RGD:1642527, RGD:729667 NCBI chr13:35,290,835...35,323,245
Ensembl chr13:35,290,264...35,323,356
JBrowse link
G PRKCQ protein kinase C theta ISO associated with Obesity;protein:decreased expression:skeletal muscle
protein:altered localization:skeletal muscle
RGD PMID:9000691, PMID:10923637 RGD:1625603, RGD:1625604 NCBI chr10:64,442,588...64,596,528
Ensembl chr10:64,443,251...64,600,339
JBrowse link
G PRKCZ protein kinase C zeta ISO protein::skeletal muscle:reduced response to insulin in obese and diabetic subjects RGD PMID:12882908 RGD:1642650 NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,575...64,163,472
JBrowse link
G PRL prolactin ISO associated with Hyperprolactinemia RGD PMID:3888755 RGD:1642560 NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,741
JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
protein:increased expression, decreased acetylation:liver
CTD
RGD
PMID:18303120, PMID:18385463 RGD:2292521 NCBI chr14:99,929,590...100,021,619 JBrowse link
G PTGDS prostaglandin D2 synthase susceptibility ISO RGD PMID:15970590 RGD:1642581
G PTK2B protein tyrosine kinase 2 beta ISO associated with Obesity RGD PMID:16039993 RGD:1642605 NCBI chr14:11,063,662...11,194,196
Ensembl chr14:11,064,492...11,194,194
JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
DNA:insertion:3'utr:1484insG
CTD
ClinVar
RGD
PMID:10744717, PMID:11833006 RGD:1625240 NCBI chr17:52,017,100...52,086,747
Ensembl chr17:52,017,104...52,086,736
JBrowse link
G PTPRF protein tyrosine phosphatase receptor type F ISO protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05)
protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced
RGD PMID:9218523, PMID:11309481 RGD:1642733, RGD:1642735 NCBI chr 6:167,656,674...167,743,750
Ensembl chr 6:167,656,680...167,743,721
JBrowse link
G PYY peptide YY ISO protein:decreased expression RGD PMID:17045646 RGD:1625281 NCBI chr12:19,190,703...19,208,373 JBrowse link
G RB1 RB transcriptional corepressor 1 ISO mRNA:decreased expression:adipose tissue RGD PMID:23315497 RGD:8547988 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:altered localization:soleus RGD PMID:18073321, PMID:18198644 RGD:2298857, RGD:2298860 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,471
JBrowse link
G RETN resistin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16493877, PMID:18789551 RGD:2313499 NCBI chr 2:71,484,164...71,485,577
Ensembl chr 2:71,484,169...71,485,616
JBrowse link
G RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO RGD PMID:16537411 RGD:2311703 NCBI chr 6:27,601,692...27,605,127
Ensembl chr 6:27,601,692...27,605,083
JBrowse link
G SELENOP selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:14714311 NCBI chr16:27,537,885...27,547,863
Ensembl chr16:27,537,885...27,631,130
JBrowse link
G SERPINA1 serpin family A member 1 ISO RGD PMID:16752182 RGD:1601202 NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,604,285...115,614,633
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO mRNA:increased expression:white adipose tissue (rat) RGD PMID:19776253, PMID:26188590 RGD:11073726, RGD:8547949 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO associated with Hypertension
human protein in a rat model
RGD PMID:19073347, PMID:22714715, PMID:24288442 RGD:2312339, RGD:8642993, RGD:8655563 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
G SHC1 SHC adaptor protein 1 ISO mRNA:increased expression:adipose tissue RGD PMID:17986714 RGD:1643171 NCBI chr 4:94,818,226...94,831,766
Ensembl chr 4:94,810,875...94,831,765
JBrowse link
G SI sucrase-isomaltase ISO associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine RGD PMID:9878708 RGD:1625544 NCBI chr13:104,296,281...104,379,558
Ensembl chr13:104,296,283...104,379,478
JBrowse link
G SIRT1 sirtuin 1 treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic
associated with Obesity
CTD
RGD
PMID:19996381, PMID:20068143, PMID:21321189, PMID:24442997, PMID:25849131, PMID:26026874 RGD:9585759 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,157...71,123,299
JBrowse link
G SIRT4 sirtuin 4 ISO RGD PMID:20651844 RGD:9586052 NCBI chr14:40,290,288...40,303,887
Ensembl chr14:40,286,955...40,303,888
JBrowse link
G SLC27A1 solute carrier family 27 member 1 ISO protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet RGD PMID:17400720 RGD:1642795 NCBI chr 2:60,203,374...60,235,689
Ensembl chr 2:60,203,374...60,235,652
JBrowse link
G SLC27A4 solute carrier family 27 member 4 ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:15168018 RGD:1625638 NCBI chr 1:268,773,792...268,788,208
Ensembl chr 1:268,756,680...268,788,791
JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO mRNA,protein:decreased expression:muscle RGD PMID:11436180 RGD:1642802 NCBI chr 5:62,963,635...63,041,955 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
RGD
CTD
PMID:11947963, PMID:18778861 RGD:2313624 NCBI chr12:52,628,746...52,634,965
Ensembl chr12:52,628,450...52,634,967
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO associated with Diabetes Mellitus RGD PMID:15240880 RGD:1625677 NCBI chr 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,969
JBrowse link
G SOCS3 suppressor of cytokine signaling 3 susceptibility ISO associated with Obesity
associated with Diabetes Mellitus
RGD PMID:15240880, PMID:17295835 RGD:1625677, RGD:2313789 NCBI chr12:3,643,832...3,647,015
Ensembl chr12:3,643,929...3,647,012
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22829583 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G SOD3 superoxide dismutase 3 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma RGD PMID:15171689 RGD:1625698 NCBI chr 8:18,796,633...18,802,156
Ensembl chr 8:18,796,636...18,802,154
JBrowse link
G SORBS1 sorbin and SH3 domain containing 1 susceptibility ISO RGD PMID:17351624 RGD:1642731 NCBI chr14:106,895,764...107,137,469
Ensembl chr14:106,895,763...107,137,767
JBrowse link
G SOX6 SRY-box transcription factor 6 ISO RGD PMID:16148004 RGD:1581307 NCBI chr 2:42,447,391...43,068,824
Ensembl chr 2:42,448,216...43,068,325
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP
associated with Fatty Liver;mRNA:increased expression:liver
CTD
RGD
PMID:17241878, PMID:18692268, PMID:22658938 RGD:2308807, RGD:2308809 NCBI chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,265
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20699619 NCBI chr 5:6,719,484...6,784,724
Ensembl chr 5:6,719,487...6,784,672
JBrowse link
G STK11 serine/threonine kinase 11 ISO associated with obesity;protein:decreased expression:gastrocnemius RGD PMID:16352671 RGD:1601389 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
JBrowse link
G STS steroid sulfatase ISO CTD Direct Evidence: therapeutic CTD PMID:24497646 NCBI chr  X:3,926,027...4,076,900
NCBI chr  Y:2,747,102...2,828,322
JBrowse link
G SYN1 synapsin I ISO RGD PMID:29566703 RGD:13542091 NCBI chr  X:42,090,245...42,142,254
Ensembl chr  X:42,090,245...42,142,224
JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Insulin resistance ClinVar NCBI chr11:47,543,808...47,760,928
Ensembl chr11:47,543,814...47,818,561
JBrowse link
G TCF7L2 transcription factor 7 like 2 ISO DNA:SNP (human) RGD PMID:19509102 RGD:2312433 NCBI chr14:123,343,695...123,547,332
Ensembl chr14:123,343,694...123,546,417
JBrowse link
G TF transferrin ISO protein:increased expression:plasma RGD PMID:17350134 RGD:1601515 NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,970,599
JBrowse link
G TFAP2B transcription factor AP-2 beta ISO RGD PMID:16373417 RGD:1601544 NCBI chr 7:44,745,653...44,774,563
Ensembl chr 7:44,745,422...44,770,609
JBrowse link
G THBD thrombomodulin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11453033 RGD:2312460 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
JBrowse link
G TLR4 toll like receptor 4 severity ISO protein:increased expression:skeletal muscle
associated with Obesity
RGD PMID:17426960, PMID:18633101, PMID:19675137 RGD:1620681, RGD:2312483, RGD:2312489 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TNF tumor necrosis factor treatment ISO associated with Obesity
CTD Direct Evidence: marker/mechanism
associated with obesity
RGD
CTD
PMID:9832430, PMID:14764603, PMID:16202847, PMID:16493877, PMID:20943792, PMID:25016878 RGD:10450578, RGD:14995428, RGD:1580214, RGD:1580312 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO associated with obesity;protein:increased expression:serum RGD PMID:15936463 RGD:1620889 NCBI chr 4:19,850,212...19,879,132 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 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
JBrowse link
G TRIB3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20461355 NCBI chr17:34,808,273...34,819,592
Ensembl chr17:34,807,534...34,816,451
JBrowse link
G TSC1 TSC complex subunit 1 ISO RGD PMID:15380067 RGD:1624197 NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,952
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 chr 8:86,522,028...86,526,162 JBrowse link
G UCP2 uncoupling protein 2 ISO DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) RGD PMID:17870627 RGD:2313512 NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,333,153...8,365,558
JBrowse link
G UCP3 uncoupling protein 3 ISO DNA:polymorphism:promoter:-55C>T (human) RGD PMID:17571165, PMID:17870627 RGD:2313512, RGD:2313515 NCBI chr 9:8,378,023...8,389,452
Ensembl chr 9:8,378,019...8,386,211
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:11882338 RGD:1580351 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
JBrowse link
G VDR vitamin D receptor ISO RGD PMID:25801026 RGD:14402022 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
G VWF von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16631442 RGD:1625711 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,098
JBrowse link
G XBP1 X-box binding protein 1 ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:15486293, PMID:27325692 RGD:2326004 NCBI chr14:46,011,239...46,016,526
Ensembl chr14:46,008,377...46,017,036
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 OMIM NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,139
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 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain treatment ISO RGD PMID:25191539 RGD:10047118 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,401...52,581,755
JBrowse link
G ACAT2 acetyl-CoA acetyltransferase 2 susceptibility ISO DNA:polymorphism RGD PMID:14557872 RGD:1581921 NCBI chr 1:7,600,616...7,612,861
Ensembl chr 1:7,598,735...7,612,811
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO associated with vascular diseases; protein:decreased expression:plasma
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human)
protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16793964, PMID:17618945, PMID:17893004, PMID:18162013, PMID:19690575, PMID:20833989, PMID:21625822, PMID:21976521 RGD:2313234, RGD:5686407, RGD:5686428, RGD:5686800 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G ADRB2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphisms: :p.R16G, p.Q27E RGD PMID:14557466 RGD:1601127 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,032,782...150,035,591
JBrowse link
G AGT angiotensinogen ISO mRNA, protein:increased expression:adipose tissue RGD PMID:17260464 RGD:1601134 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AGTR1 angiotensin II receptor type 1 susceptibility ISO DNA:snp:3' utr:c.5186A>C RGD PMID:17211857 RGD:1601146 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,131
JBrowse link
G ALDOA aldolase, fructose-bisphosphate A ISO mRNA:increased expression:aorta RGD PMID:21890532 RGD:13673877 NCBI chr 3:18,246,036...18,260,167 JBrowse link
G ALPL alkaline phosphatase, biomineralization associated susceptibility ISO protein:increased expression:serum RGD PMID:16249437 RGD:1601174 NCBI chr 6:79,589,695...79,649,646
Ensembl chr 6:79,588,659...79,649,648
JBrowse link
G APOA1 apolipoprotein A1 ISO protein:decreased expression
DNA: polymorphism: :G2, G3 and G5
RGD PMID:17217166, PMID:21410987 RGD:1601183, RGD:5508220 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
JBrowse link
G APOA2 apolipoprotein A2 ISO protein:decreased expression:serum RGD PMID:19817643 RGD:2313955 NCBI chr 4:89,237,514...89,239,126
Ensembl chr 4:89,237,511...89,240,320
JBrowse link
G APOA5 apolipoprotein A5 susceptibility ISO DNA:polymorphism: :p.S19W (human) RGD PMID:18789138 RGD:2313315 NCBI chr 9:44,177,834...44,180,880 JBrowse link
G APOB apolipoprotein B ISO protein:increased expression:plasma RGD PMID:16828905 RGD:1601198 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G APOC3 apolipoprotein C3 susceptibility ISO DNA:polymorphism:promoter:-482C>T, -455T>C
protein:increased expression:serum
RGD PMID:16298371, PMID:17416293 RGD:1601223, RGD:2306766 NCBI chr 9:44,211,171...44,213,538 JBrowse link
G APOM apolipoprotein M ISO protein:decreased expression:plasma RGD PMID:19539616 RGD:2314236 NCBI chr 7:23,768,974...23,773,324
Ensembl chr 7:23,768,984...23,773,324
JBrowse link
G ATM ATM serine/threonine kinase ISO RGD PMID:17084711 RGD:1601248 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit ISO RGD PMID:23320804 RGD:13838660 NCBI chr11:113,901...144,765
Ensembl chr11:114,256...143,222
JBrowse link
G BCHE butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15907830 RGD:1601317 NCBI chr13:104,946,732...105,007,568 JBrowse link
G BDNF brain derived neurotrophic factor ISO RGD PMID:11935372 RGD:1580935 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,623,268...32,679,164
JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:21760737 RGD:6483594 NCBI chr 4:93,807,703...93,808,806
Ensembl chr 4:93,807,706...93,836,791
JBrowse link
G C3 complement C3 ISO RGD PMID:16488421 RGD:2314030 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G CAPN10 calpain 10 ISO DNA:polymorphism RGD PMID:16546286 RGD:1625050 NCBI chr15:139,557,643...139,568,764
Ensembl chr15:139,557,666...139,570,181
JBrowse link
G CCK cholecystokinin ISO protein:decreased expression:plasma:associated with Obesity, Morbid (MeSH:D009767) RGD PMID:17443025 RGD:1625798 NCBI chr13:25,940,674...25,945,879
Ensembl chr13:25,937,645...25,946,197
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16188961, PMID:18486454 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:plasma (rat) RGD PMID:19905967 RGD:4889977 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CD36 CD36 molecule ISO DNA:SNPs: :multiple (human) RGD PMID:9916795, PMID:18305138 RGD:2307208, RGD:619666 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:serum RGD PMID:16423632, PMID:20006362 RGD:2314214, RGD:5490591 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CELA2A chymotrypsin-like elastase family, member 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31358993 NCBI chr 6:74,691,653...74,707,598
Ensembl chr 6:74,691,653...74,707,598
JBrowse link
G CHEK2 checkpoint kinase 2 ISO mRNA:increased expression:heart left ventricle (rat) RGD PMID:25129990 RGD:10400905 NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,926,613...45,967,296
JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO DNA:polymorphism:promoter:-168A>G RGD PMID:17183695 RGD:5491201 NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16644639, PMID:21357282 RGD:6482318 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G CST3 cystatin C ISO protein:increased expression:serum (human) RGD PMID:19887833 RGD:2314295 NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
JBrowse link
G CYBA cytochrome b-245 alpha chain ISO RGD PMID:16741160 RGD:2317864 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,154...1,021,418
JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:21990351 RGD:10401057 NCBI chr 4:452,890...463,665
Ensembl chr 4:452,861...466,883
JBrowse link
G DIO2 iodothyronine deiodinase 2 ISO DNA:polymorphism: :p.T92A (human) RGD PMID:18198294 RGD:2313696 NCBI chr 7:103,096,414...103,110,749
Ensembl chr 7:103,096,425...103,323,258
JBrowse link
G EPHX2 epoxide hydrolase 2 ISO RGD PMID:22007192 RGD:5688391 NCBI chr14:11,217,125...11,293,018
Ensembl chr14:11,216,977...11,293,412
JBrowse link
G F3 coagulation factor III, tissue factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:12417540 RGD:2313865 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,992...122,837,672
JBrowse link
G FABP2 fatty acid binding protein 2 ISO DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India RGD PMID:16919542 RGD:1626401 NCBI chr 8:104,464,342...104,468,059
Ensembl chr 8:104,464,342...104,470,480
JBrowse link
G FABP4 fatty acid binding protein 4, adipocyte ISO protein:increased expression:serum RGD PMID:16919044 RGD:1625406 NCBI chr 4:55,096,400...55,101,209
Ensembl chr 4:55,096,404...55,101,897
JBrowse link
G FADD Fas associated via death domain ISO protein:increased expression:heart left ventricle RGD PMID:23657904 RGD:11344884 NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,186,744...3,194,792
JBrowse link
G FGF19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr 2:3,583,027...3,586,985
Ensembl chr 2:3,583,027...3,587,825
JBrowse link
G FGF21 fibroblast growth factor 21 treatment ISO RGD PMID:25306889 RGD:10401890 NCBI chr 6:54,082,653...54,084,532
Ensembl chr 6:54,080,739...54,084,604
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:19374165, PMID:24868532 RGD:10449117, RGD:2307350 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,025,257...125,041,033
JBrowse link
G GCKR glucokinase regulator ISO RGD PMID:19861489 RGD:7242423 NCBI chr 3:111,649,557...111,683,539
Ensembl chr 3:111,644,158...111,683,660
JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO In peritoneal dialysis patients
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
associated with Kidney Diseases;protein:decreased expression:serum
DNA:polymorphisms
RGD
ClinVar
PMID:11502844, PMID:12050239, PMID:12161552, PMID:16204371, PMID:18552255, PMID:18996292 RGD:1625021, RGD:2313748, RGD:7242555 NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,316,436...66,452,917
JBrowse link
G HDAC3 histone deacetylase 3 ISO RGD PMID:21763752 RGD:9590183 NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,191...143,287,387
JBrowse link
G HGF hepatocyte growth factor ISO study in the Japanese population RGD PMID:15713721 RGD:1642702 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G HMGA1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr 7:30,320,090...30,329,413 JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:19461650 RGD:5508692 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,225...84,402,956
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:22193921 RGD:10763276
G HNF4A hepatocyte nuclear factor 4 alpha ISO Finnish population; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2) RGD PMID:16804065 RGD:1601642 NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,503
JBrowse link
G HP haptoglobin treatment ISO protein:increased expression RGD PMID:17007284, PMID:20508159 RGD:11041859, RGD:1626341 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO RGD PMID:14697232 RGD:1625074 NCBI chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396
JBrowse link
G HTR2C 5-hydroxytryptamine receptor 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632216, PMID:18515891, PMID:19142101 NCBI chr  X:94,053,415...94,313,352
Ensembl chr  X:94,053,456...94,313,356
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:19394054 RGD:2313467 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 susceptibility ISO RGD PMID:31064654 RGD:14985252 NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,606...55,681,426
JBrowse link
G IGF2 insulin like growth factor 2 ISO DNA:insertion RGD PMID:18418699 RGD:2311520 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IGFBP2 insulin like growth factor binding protein 2 ISO RGD PMID:16915540 RGD:1626481 NCBI chr15:118,822,092...118,850,985
Ensembl chr15:118,822,047...118,850,976
JBrowse link
G IL18 interleukin 18 treatment ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD
RGD
PMID:16644639, PMID:19717152, PMID:24456735 RGD:4889401, RGD:8655985 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16644639 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G IL6R interleukin 6 receptor susceptibility ISO DNA:polymorphism: :p.D358A RGD PMID:16817825 RGD:1625430 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,426...95,381,282
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO DNA:SNPs: :rs2276047,snp8(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15220217 RGD:1626127 NCBI chr 9:6,793,971...6,807,286
Ensembl chr 9:6,792,884...6,808,028
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11274935, PMID:16259526 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
JBrowse link
G IRS1 insulin receptor substrate 1 ISO protein:decreased expression:skeletal muscle RGD PMID:10842668 RGD:6482864 NCBI chr15:128,245,846...128,307,321
Ensembl chr15:128,245,846...128,308,335
JBrowse link
G ITGAV integrin subunit alpha V ISO RGD PMID:16784924 RGD:1627640 NCBI chr15:91,604,666...91,711,843
Ensembl chr15:91,604,676...91,711,840
JBrowse link
G KL klotho ISO mRNA:decreased expression:kidney: RGD PMID:11027545 RGD:10403056 NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,198...9,478,346
JBrowse link
G LBP lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349936 NCBI chr17:41,398,935...41,429,467
Ensembl chr17:41,393,818...41,429,551
JBrowse link
G LEP leptin ISO protein:increased expression:plasma (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16793964, PMID:18515891, PMID:19462476, PMID:25380250 RGD:10053625, RGD:2311125 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
JBrowse link
G LIPG lipase G, endothelial type ISO RGD PMID:16354105 RGD:1580865 NCBI chr 1:99,081,940...99,110,671
Ensembl chr 1:99,081,938...99,110,876
JBrowse link
G LMNA lamin A/C ISO DNA:SNP: :c.138747C>T (human) RGD PMID:15205219 RGD:2306121 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,026...93,949,398
JBrowse link
G LOC106504546 serpin A12 treatment ISO human protein in a mouse model RGD PMID:16030142 RGD:1547845 NCBI chr 7:115,720,892...115,734,810
Ensembl chr 7:115,720,677...115,734,816
JBrowse link
G LOC110260194 cytochrome P450 11B1, mitochondrial susceptibility ISO DNA:polymorphism:promoter:-344C>T (human) RGD PMID:17261471 RGD:2307294 NCBI chr 4:1,365,725...1,373,138 JBrowse link
G LRP6 LDL receptor related protein 6 ISO DNA:missense mutation:cds RGD PMID:17332414 RGD:2298725 NCBI chr 5:60,149,041...60,318,719
Ensembl chr 5:60,149,028...60,314,689
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 chr 8:2,129,492...2,145,632
Ensembl chr 8:2,125,405...2,145,647
JBrowse link
G MIR122 microRNA mir-122 ISO miRNA:increased expression:serum RGD PMID:27899485 RGD:14401601 NCBI chr 1:162,329,776...162,329,860
Ensembl chr 1:162,329,767...162,329,860
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase ISO protein:increased expression:plasma
DNA:repeats:intron
RGD PMID:15922301, PMID:17556870 RGD:1642337, RGD:1642345 NCBI chr 9:106,119,896...106,162,126
Ensembl chr 9:106,119,899...106,294,587
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448, PMID:17389588 NCBI chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,761...58,283,092
JBrowse link
G NGF nerve growth factor ISO RGD PMID:11935372 RGD:1580935 NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,417...105,307,842
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
CTD
ClinVar
RGD
PMID:12947532, PMID:15269839, PMID:20876122, PMID:28361419, PMID:28967023, PMID:29127233 RGD:13450928, RGD:13461762 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
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:82,540,664...82,575,811
Ensembl chr  X:82,540,666...82,586,532
JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr13:140,373,571...140,406,129
Ensembl chr13:140,364,075...140,406,112
JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr 4:89,226,314...89,231,781
Ensembl chr 4:89,226,690...89,236,450
JBrowse link
G PLA2G4A phospholipase A2 group IVA ISO mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 9:127,853,581...128,164,825
Ensembl chr 9:127,859,051...128,162,636
JBrowse link
G PLA2G6 phospholipase A2 group VI ISO mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 5:9,713,809...9,777,921
Ensembl chr 5:9,685,214...9,777,922
JBrowse link
G PLA2G7 phospholipase A2 group VII ISO mRNA:increased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 7:41,488,152...41,531,383
Ensembl chr 7:41,486,843...41,531,331
JBrowse link
G PLAT plasminogen activator, tissue type ISO protein:increased expression:serum RGD PMID:18249307 RGD:2311664 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:14602783, PMID:21573798 RGD:1642618 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma no_association ISO DNA:SNP: :p.P12A (human) RGD PMID:16183630, PMID:16186413, PMID:18959602 RGD:1580683, RGD:1580686, RGD:2301843 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,655...68,433,947
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:decreased expression:gastrocnemius muscle (rat) RGD PMID:20383225 RGD:10059661 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,961,909
JBrowse link
G PRL prolactin ISO RGD PMID:16303834 RGD:1642558 NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,741
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:liver RGD PMID:17883899 RGD:1642586 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G RETN resistin ISO DNA:SNP:promoter:-420C>G (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17598818, PMID:18328350 RGD:7207155 NCBI chr 2:71,484,164...71,485,577
Ensembl chr 2:71,484,169...71,485,616
JBrowse link
G SELP selectin P ISO RGD PMID:19061719 RGD:2312292 NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,406,203
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO RGD PMID:26084260 RGD:11073736 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SHBG sex hormone binding globulin ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:serum
CTD
RGD
PMID:16968811, PMID:17884445, PMID:17992261 RGD:2313785 NCBI chr12:52,914,711...52,919,092 JBrowse link
G SIRT1 sirtuin 1 treatment ISO protein:decreased expression:hippocampus (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20068143, PMID:21514307, PMID:25356430 RGD:10053569, RGD:9585758 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,157...71,123,299
JBrowse link
G SLC27A1 solute carrier family 27 member 1 susceptibility ISO DNA:gene knockout::Slc27a1-/- mice resistant to diet-induced obesity and metabolic syndrome RGD PMID:16611988 RGD:1642790 NCBI chr 2:60,203,374...60,235,689
Ensembl chr 2:60,203,374...60,235,652
JBrowse link
G SOAT2 sterol O-acyltransferase 2 susceptibility ISO DNA:SNPs RGD PMID:14557872 RGD:1581921 NCBI chr 5:18,358,941...18,371,262
Ensembl chr 5:18,358,673...18,371,264
JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:28875871 RGD:26923956 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G TF transferrin susceptibility ISO protein:increased expression:serum RGD PMID:17416791 RGD:1601514 NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,970,599
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO mRNA:increased expression:left heart ventricle RGD PMID:18692559 RGD:2306739 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G THBD thrombomodulin ISO associated with Diabetic Nephropathies;protein:increased expression:plasma RGD PMID:16567841 RGD:1601641 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:24441717 RGD:10450604 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO associated with obesity;protein:increased expression:plasma RGD PMID:17200772 RGD:1624178 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
JBrowse link
G TRIB3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18497449 NCBI chr17:34,808,273...34,819,592
Ensembl chr17:34,807,534...34,816,451
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:18718174 RGD:2313109 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:22206010 RGD:7483588 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G VWF von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16764036 RGD:1625709 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,098
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12622
    disease of anatomical entity 12155
      gastrointestinal system disease 4024
        pancreas disease 796
          endocrine pancreas disease 315
            abnormality of glucagon secretion 0
            gastrin secretion abnormality 0
            hyperinsulinism + 298
            hypoglycemia + 43
            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.