Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:1428 term browser browse the term
Synonyms:primary_id: RDO:9004498
 xref: ICD10CM:E16;   ICD9CM:251
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO OMIM NCBI chrNW_004936627:4,451,847...4,473,163 JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY ClinVar NCBI chrNW_004936627:4,414,122...4,448,347 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 chrNW_004936629:3,672,445...3,725,645 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chrNW_004936477:4,881,230...5,488,208 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 chrNW_004936558:3,300,941...3,357,595 JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chrNW_004936664:2,968,103...2,973,652 JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chrNW_004936497:2,209,136...2,373,580 JBrowse link
G Fadd Fas associated via death domain treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chrNW_004936599:633,501...639,412 JBrowse link
G Fas Fas cell surface death receptor ISO RGD PMID:30172001 RGD:13792561 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Lpl lipoprotein lipase treatment ISO RGD PMID:26996629 RGD:13794382 NCBI chrNW_004936555:4,084,099...4,108,219 JBrowse link
G Mttp microsomal triglyceride transfer protein ISO OMIM NCBI chrNW_004936520:3,337,726...3,417,818 JBrowse link
G Tlr2 toll like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chrNW_004936576:522,234...531,660 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 chrNW_004936474:11,824,692...11,846,355 JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO OMIM NCBI chrNW_004936661:2,436,702...2,444,758 JBrowse link
Abdominal Obesity-Metabolic Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 ClinVar PMID:25741868 NCBI chrNW_004936706:122,939...139,506 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 chrNW_004936591:3,347,346...3,368,062 JBrowse link
G Tbx19 T-box transcription factor 19 ISO OMIM NCBI chrNW_004936481:17,990,435...18,013,180 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 chrNW_004936599:1,491,934...1,535,101 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 chrNW_004936522:7,858,172...7,875,679 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:missense mutations:exon:p.G1485E (c.4454G>A), p.D1506E (c.4518C>A), p.M1544K (c.4541T>A) (human)
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:mutations:exon:multiple
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple
DNA:deletion: :p.S1387del (human)
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 chrNW_004936528:1,608,782...1,682,873 JBrowse link
G Gck glucokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15277402 NCBI chrNW_004936478:19,104,477...19,118,915 JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO DNA:missense mutations: : RGD PMID:9571255 RGD:1302513 NCBI chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO DNA:deletion:cds (human) RGD PMID:14693719 RGD:2306664 NCBI chrNW_004936818:575,272...623,496 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 chrNW_004936530:2,401,053...2,425,989 JBrowse link
G Kcnj11 potassium inwardly rectifying channel subfamily J member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
DNA:SNPs:exon:c.151G>T, c.1017G>T (human)
DNA:deletion, frameshift mutation, missense mutations:exon:multiple
DNA:deletion, insertion:exon
DNA:missense mutations, frameshift mutations:CDS:multiple
DNA:missense mutation:exon:p.R34H (c.101G>A) (human)
CTD
ClinVar
RGD
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 chrNW_004936528:1,685,015...1,688,220 JBrowse link
G Kcnt2 potassium sodium-activated channel subfamily T member 2 ISO ClinVar Annotator: match by term: KCNT2-related condition ClinVar PMID:29069600 NCBI chrNW_004936638:3,789,339...4,154,356 JBrowse link
G Tbc1d4 TBC1 domain family member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chrNW_004936511:5,789,683...5,858,930 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 chrNW_004936528:1,608,782...1,682,873 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 chrNW_004936528:1,685,015...1,688,220 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 chrNW_004936528:1,608,782...1,682,873 JBrowse link
G Kcnj11 potassium inwardly rectifying channel subfamily J member 11 ISO OMIM NCBI chrNW_004936528:1,685,015...1,688,220 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 chrNW_004936478:19,104,477...19,118,915 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 chrNW_004936818:575,272...623,496 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 chrNW_004936588:4,345,306...4,453,380 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 chrNW_004936588:4,345,306...4,453,380 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 chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936601:5,315,297...5,400,752 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 chrNW_004936690:1,448,289...1,461,525 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 chrNW_004936528:1,608,782...1,682,873 JBrowse link
G Kcnj11 potassium inwardly rectifying channel subfamily J member 11 ISO ClinVar Annotator: match by term: Nesidioblastosis
ClinVar Annotator: match by term: Islet cell hyperplasia
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 chrNW_004936528:1,685,015...1,688,220 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 chrNW_004936528:1,608,782...1,682,873 JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO RGD PMID:14742740 RGD:2325255 NCBI chrNW_004936672:3,461,387...3,468,053 JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:16414018 RGD:1599145 NCBI chrNW_004936578:3,168,599...3,179,369 JBrowse link
G Adipor1 adiponectin receptor 1 ISO mRNA:decreased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chrNW_004936567:1,658,405...1,674,794 JBrowse link
G Adipor2 adiponectin receptor 2 ISO mRNA:increased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chrNW_004936606:1,911,104...2,007,109 JBrowse link
G Adm adrenomedullin ISO associated with Obesity;protein:increased expression:plasma RGD PMID:15789277 RGD:1625301 NCBI chrNW_004936528:8,005,223...8,007,586 JBrowse link
G Adra1b adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480 RGD:1625772 NCBI chrNW_004936515:3,523,799...3,572,467 JBrowse link
G Adrb3 adrenoceptor beta 3 ISO associated with Obesity;mRNA:decreased expression:epidydimis, white fat RGD PMID:11014217 RGD:2313165 NCBI chrNW_004936710:1,410,589...1,413,279 JBrowse link
G Agt angiotensinogen ISO associated with obesity;DNA:polymorphism: :p.M235T RGD PMID:16713443 RGD:1601142 NCBI chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO RGD PMID:16565309 RGD:1642975 NCBI chrNW_004936519:6,831,096...6,873,977 JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:19883376 RGD:9586446 NCBI chrNW_004936476:25,807,179...25,818,914 JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004936514:6,936,915...6,947,246 JBrowse link
G Cd68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004936595:858,289...861,131 JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chrNW_004936506:8,886,494...8,923,921 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 chrNW_004936481:14,029,478...14,052,724 JBrowse link
G Ddc dopa decarboxylase ISO protein:increased expression:pancreatic beta cell (human) RGD PMID:16403819 RGD:5129140 NCBI chrNW_004936686:1,322,153...1,405,434 JBrowse link
G Fanca FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chrNW_004936641:281,119...319,796 JBrowse link
G Fancc FA complementation group C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chrNW_004936626:3,980,311...4,147,042 JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chrNW_004936471:10,747,030...10,969,223 JBrowse link
G Foxa2 forkhead box A2 ISO RGD PMID:11445544 RGD:2313243 NCBI chrNW_004936620:2,966,341...2,969,349 JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:3019152 NCBI chrNW_004936469:16,906,658...16,916,045 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 chrNW_004936478:19,104,477...19,118,915 JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chrNW_004936491:13,603,256...13,665,298 JBrowse link
G Gip gastric inhibitory polypeptide ISO protein:decreased expression:plasma (rat) RGD PMID:8059006 RGD:2312550 NCBI chrNW_004936490:12,487,025...12,492,214 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 chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15184668, PMID:18560803 NCBI chrNW_004936529:997,943...999,123 JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive ClinVar PMID:28492532 NCBI chrNW_004936818:575,272...623,496 JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19171794 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
G Hnf4a hepatocyte nuclear factor 4 alpha ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar Annotator: match by term: Hyperinsulinemia
ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency
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 chrNW_004936530:2,401,053...2,425,989 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 chrNW_004936816:1,002,137...1,003,357 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 chrNW_004936588:4,345,306...4,453,380 JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO protein:increased expression:liver (rat) RGD PMID:25385842 RGD:12903966 NCBI chrNW_004936471:36,547,552...36,601,327 JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734900 NCBI chrNW_004936525:9,064,442...9,125,972 JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004936543:8,460,526...8,508,524 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 chrNW_004936528:1,685,015...1,688,220 JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9826672, PMID:22948215 RGD:12904911 NCBI chrNW_004936479:15,394,966...15,411,334 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 chrNW_004936591:5,771,371...5,846,177 JBrowse link
G Lipc lipase C, hepatic type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat)
RGD PMID:1592086, PMID:7047662, PMID:11095452 RGD:2308794, RGD:2308800, RGD:2308844 NCBI chrNW_004936471:19,604,083...19,733,721 JBrowse link
G LOC101976500 haptoglobin ISO protein:increased expression:serum RGD PMID:17598972 RGD:1626335 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G Lta lymphotoxin alpha ISO associated with Coronary Arteriosclerosis RGD PMID:9726033 RGD:1625034 NCBI chrNW_004936727:1,940,081...1,941,022 JBrowse link
G Mc4r melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23251400 NCBI chrNW_004936497:4,636,370...4,638,205 JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO RGD PMID:16638826 RGD:1641947 NCBI chrNW_004936530:4,647,550...4,693,143 JBrowse link
G Mrc1 mannose receptor C-type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004936520:9,463,007...9,547,321 JBrowse link
G Mttp microsomal triglyceride transfer protein susceptibility ISO DNA:polymorphism:promoter:-493G>T RGD PMID:11849654 RGD:1625490 NCBI chrNW_004936520:3,337,726...3,417,818 JBrowse link
G Neil1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 NCBI chrNW_004936471:34,184,273...34,192,675 JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:19008412 NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Npy5r neuropeptide Y receptor Y5 ISO RGD PMID:15187000 RGD:1625494 NCBI chrNW_004936555:2,248,699...2,252,637 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 chrNW_004936578:5,945,765...5,992,972 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 chrNW_004936751:1,753,627...1,806,315 JBrowse link
G Pklr pyruvate kinase L/R ISO mRNA:increased expression:liver RGD PMID:14766002 RGD:1625581 NCBI chrNW_004936580:4,770,977...4,799,316 JBrowse link
G Prkcd protein kinase C delta ISO RGD PMID:8826977 RGD:1625605 NCBI chrNW_004936473:3,892,625...3,923,467 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 chrNW_004936484:8,048,239...8,166,058 JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:ovary RGD PMID:18421022 RGD:2292519 NCBI chrNW_004936735:1,252,414...1,338,318 JBrowse link
G Ptpn1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: therapeutic CTD PMID:28899902 NCBI chrNW_004936514:4,065,455...4,083,847 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 chrNW_004936474:24,908,103...24,984,678 JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO protein:increased phosphorylation:liver, skeletal muscle RGD PMID:15692808 RGD:1643026 NCBI chrNW_004936490:3,441,046...3,492,917 JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar NCBI chrNW_004936601:5,315,297...5,400,752 JBrowse link
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar PMID:25741868 NCBI chrNW_004936690:1,448,289...1,461,525 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 chrNW_004936596:3,426,807...3,451,259 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tsc22d3 TSC22 domain family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22556341 NCBI chrNW_004936499:6,977,924...7,044,173 JBrowse link
G Txnip thioredoxin interacting protein susceptibility ISO DNA:nonsense mutation RGD PMID:15047687 RGD:1642753 NCBI chrNW_004936867:722,544...726,595 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 chrNW_004936528:1,608,782...1,682,873 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 chrNW_004936479:13,252,678...13,255,570 JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO RGD PMID:21979934 RGD:7248543 NCBI chrNW_004936661:2,652,568...2,694,039 JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15454078 NCBI chrNW_004936606:2,168,104...2,867,560 JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO RGD PMID:11557984 RGD:734816 NCBI chrNW_004936631:3,721,307...3,785,346 JBrowse link
G Crh corticotropin releasing hormone ISO RGD PMID:12606499 RGD:704397 NCBI chrNW_004936496:7,759,656...7,761,555 JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma RGD PMID:19211168 RGD:2313835 NCBI chrNW_004936543:742,722...745,332 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 chrNW_004936490:17,605,865...17,614,754 JBrowse link
G Gck glucokinase ISO hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M RGD PMID:9435328 RGD:1601294 NCBI chrNW_004936478:19,104,477...19,118,915 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 chrNW_004936601:5,415,857...5,435,964 JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO mRNA, protein:increased expression:cerebellum (rat) RGD PMID:20056114 RGD:4107025 NCBI chrNW_004936587:3,406,055...3,806,956 JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chrNW_004936792:531,076...579,083 JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Hypoglycaemia ClinVar PMID:30311386 NCBI chrNW_004936762:1,425,337...1,652,058 JBrowse link
G Hnf1a HNF1 homeobox A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787664 NCBI chrNW_004936668:62,103...81,549 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 chrNW_004936530:2,401,053...2,425,989 JBrowse link
G Igf2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3185662 NCBI chrNW_004936816:972,902...981,232 JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Inppl1 inositol polyphosphate phosphatase like 1 ISO RGD PMID:11343120 RGD:737755 NCBI chrNW_004936498:1,524,128...1,539,680 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 chrNW_004936816:1,002,137...1,003,357 JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Hypoglycemia ClinVar PMID:25741868 NCBI chrNW_004936672:1,351,053...1,481,954 JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO RGD PMID:9988280 RGD:737788 NCBI chrNW_004936480:1,188,408...1,273,210 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 chrNW_004936490:14,858,682...14,861,614 JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16777972 NCBI chrNW_004936629:3,672,445...3,725,645 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 chrNW_004936589:4,789,547...4,827,727 JBrowse link
G Prl prolactin ISO associated with Hypertension RGD PMID:16617309 RGD:1642557 NCBI chrNW_004936552:7,204,298...7,212,632 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Th tyrosine hydroxylase ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat) RGD PMID:16396986 RGD:5130724 NCBI chrNW_004936794:478,651...486,887 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8774068 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Ucp3 uncoupling protein 3 ISO RGD PMID:10935638 RGD:737762 NCBI chrNW_004936498:3,082,575...3,095,739 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 chrNW_004936528:1,608,782...1,682,873 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 chrNW_004936661:2,652,568...2,694,039 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 chrNW_004936490:927,769...1,191,483 JBrowse link
G Acacb acetyl-CoA carboxylase beta ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16485039, PMID:22658938 RGD:1625727 NCBI chrNW_004936769:950,970...1,053,671 JBrowse link
G Acp1 acid phosphatase 1 ISO associated with Obesity RGD PMID:17353188 RGD:2313180 NCBI chrNW_004936532:130,799...145,285 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 chrNW_004936554:4,425,518...4,484,853 JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment ISO CTD Direct Evidence: therapeutic
associated with Hypertension
CTD
RGD
PMID:16041833, PMID:18931039, PMID:21484566, PMID:21872431, PMID:23089228 RGD:1599150, RGD:8695928, RGD:8695951 NCBI chrNW_004936578:3,168,599...3,179,369 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 chrNW_004936567:1,658,405...1,674,794 JBrowse link
G Adipor2 adiponectin receptor 2 treatment ISO RGD PMID:24797033, PMID:30225267 RGD:21406435, RGD:25824940 NCBI chrNW_004936606:1,911,104...2,007,109 JBrowse link
G Adora1 adenosine A1 receptor treatment ISO associated with Obesity RGD PMID:11703426, PMID:15220221 RGD:1625243, RGD:2313807 NCBI chrNW_004936567:1,430,128...1,508,626 JBrowse link
G Adra1b adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480 RGD:1625772 NCBI chrNW_004936515:3,523,799...3,572,467 JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :p.R16G
CTD
RGD
PMID:11510954, PMID:15699455, PMID:19034036 RGD:1598757, RGD:1601125 NCBI chrNW_004936504:5,985,407...5,987,453 JBrowse link
G Adrb3 adrenoceptor beta 3 no_association ISO associated with Obesity;DNA:polymorphism: :p.W64R (human)
DNA:missense mutation:cds:p.W64R rs4994 (human)
RGD PMID:10421225, PMID:10582543, PMID:17299491 RGD:1559326, RGD:2313158, RGD:5684421 NCBI chrNW_004936710:1,410,589...1,413,279 JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO protein:increased expression:dorsal root ganglion, neuron RGD PMID:22357959 RGD:6903873 NCBI chrNW_004936479:13,252,678...13,255,570 JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25734695 NCBI chrNW_004936546:3,737,908...3,783,492 JBrowse link
G Ahsg alpha 2-HS glycoprotein susceptibility ISO protein:increased expression:plasma RGD PMID:16567827, PMID:17011519 RGD:1625793, RGD:1625794 NCBI chrNW_004936578:3,332,934...3,339,903 JBrowse link
G Akt2 AKT serine/threonine kinase 2 no_association ISO DNA:SNPs RGD PMID:17327441 RGD:1601155 NCBI chrNW_004936661:2,652,568...2,694,039 JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member treatment ISO protein:altered expression, altered activity:liver (rat) RGD PMID:28688179 RGD:14981582 NCBI chrNW_004936558:4,362,693...4,387,705 JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:19787041 RGD:5509625 NCBI chrNW_004936677:3,232,183...3,241,307 JBrowse link
G Apln apelin ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chrNW_004936479:1,889,930...1,899,811 JBrowse link
G Apoa2 apolipoprotein A2 ISO RGD PMID:11246886 RGD:2313957 NCBI chrNW_004936903:520,420...521,726 JBrowse link
G Apoc1 apolipoprotein C1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11723061 RGD:2313951 NCBI chrNW_004936706:1,519,248...1,520,102 JBrowse link
G Apoc3 apolipoprotein C3 susceptibility
treatment
ISO RGD PMID:15007394, PMID:15734841 RGD:1580750, RGD:1601226 NCBI chrNW_004936542:2,106,927...2,108,412 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 chrNW_004936635:485,903...647,820 JBrowse link
G Atm ATM serine/threonine kinase ISO protein:decreased expression:muscle: RGD PMID:18534819 RGD:8693659 NCBI chrNW_004936551:359,134...534,672 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 chrNW_004936599:4,924,349...4,933,683 JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:17917325 RGD:2306776 NCBI chrNW_004936707:1,784,338...1,913,401 JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO RGD PMID:17618300, PMID:17988733 RGD:5129214, RGD:5129217 NCBI chrNW_004936604:551,774...567,014 JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO RGD PMID:25934999 RGD:11085488 NCBI chrNW_004936581:567,426...576,859 JBrowse link
G C1r complement C1r ISO protein:increased expression:adipocyte RGD PMID:17244723 RGD:1600551 NCBI chrNW_004936709:709,001...719,758 JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18615583 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G Capn10 calpain 10 ISO DNA:SNP:intron:rs3792267 (human) RGD PMID:11018080 RGD:7247736 NCBI chrNW_004936745:1,029,514...1,039,524 JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:29748970 RGD:13782289 NCBI chrNW_004936554:4,571,072...4,593,765 JBrowse link
G Casp8 caspase 8 ISO RGD PMID:29748970 RGD:13782289 NCBI chrNW_004936726:554,627...596,334 JBrowse link
G Cat catalase ISO associated with Obesity RGD PMID:19188683 RGD:5130761 NCBI chrNW_004936533:3,601,270...3,637,128 JBrowse link
G Cblb Cbl proto-oncogene B ISO RGD PMID:17601987 RGD:2314038 NCBI chrNW_004936701:1,157,790...1,353,375 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 chrNW_004936810:791,823...838,303 JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004936514:6,936,915...6,947,246 JBrowse link
G Cd68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004936595:858,289...861,131 JBrowse link
G Cnr1 cannabinoid receptor 1 ISO associated with Obesity RGD PMID:19553924 RGD:2314662 NCBI chrNW_004936510:3,779,930...3,806,615 JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chrNW_004936738:1,354,424...1,371,497 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 chrNW_004936857:577,067...609,855 JBrowse link
G Cpe carboxypeptidase E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15358678 NCBI chrNW_004936555:531,842...641,905 JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chrNW_004936501:13,286,821...13,291,280 JBrowse link
G Dio2 iodothyronine deiodinase 2 ISO DNA:SNP: :rs225014, p.T92A (human) RGD PMID:11872697 RGD:2313698 NCBI chrNW_004936488:8,769,555...8,783,157 JBrowse link
G Drd1 dopamine receptor D1 ISO associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule RGD PMID:15798088 RGD:2302119 NCBI chrNW_004936609:790,647...795,187 JBrowse link
G Ech1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chrNW_004936661:1,780,706...1,785,864 JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22238402 NCBI chrNW_004936678:365,005...560,546 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 chrNW_004936472:505,751...515,375 JBrowse link
G Fabp2 fatty acid binding protein 2 no_association ISO DNA:polymorphism:CDS:amino acid A54T, in healthy, moderately overweight subjects in Baton Rouge
DNA:polymorphism:CDS:p.A54T (human)
DNA:SNP:CDS:p.A54T (human)
DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups
RGD PMID:7883976, PMID:14981227, PMID:16311100, PMID:17211557 RGD:1300314, RGD:1578456, RGD:1626400, RGD:1626407 NCBI chrNW_004936869:146,567...149,929 JBrowse link
G Fabp3 fatty acid binding protein 3 severity ISO RGD PMID:16249436 RGD:1578459 NCBI chrNW_004936474:14,576,582...14,584,362 JBrowse link
G Fabp4 fatty acid binding protein 4 ISO RGD PMID:17391165 RGD:1625407 NCBI chrNW_004936656:2,722,970...2,727,383 JBrowse link
G Fanca FA complementation group A ISO RGD PMID:22482891 RGD:11046266 NCBI chrNW_004936641:281,119...319,796 JBrowse link
G Fancc FA complementation group C ISO RGD PMID:22482891 RGD:11046266 NCBI chrNW_004936626:3,980,311...4,147,042 JBrowse link
G Fas Fas cell surface death receptor treatment ISO associated with hypothalamic disease RGD PMID:29522769 RGD:13792596 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Fgf19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chrNW_004936599:923,943...932,428 JBrowse link
G Fis1 fission, mitochondrial 1 ISO protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chrNW_004936543:1,112,746...1,116,521 JBrowse link
G Foxc2 forkhead box C2 ISO DNA:polymorphism:5'ut:-512C>T RGD PMID:12453913 RGD:1601219 NCBI chrNW_004936641:2,236,224...2,238,501 JBrowse link
G Foxo1 forkhead box O1 ISO mRNA:increased expression:adipose tissue: RGD PMID:16041833 RGD:1599150 NCBI chrNW_004936565:5,210,014...5,299,213 JBrowse link
G Fxn frataxin ISO DNA:repeats:intron:GAA (human) RGD PMID:10969848 RGD:2307049 NCBI chrNW_004936503:5,323,206...5,343,228 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO associated with Obesity;protein:increased expression:pancreas RGD PMID:23015612 RGD:10449129 NCBI chrNW_004936809:1,269,900...1,285,853 JBrowse link
G Gck glucokinase ISO protein:increased expression:pancreatic islet RGD PMID:19039094 RGD:7488970 NCBI chrNW_004936478:19,104,477...19,118,915 JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chrNW_004936491:13,603,256...13,665,298 JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:17062894 NCBI chrNW_004936530:1,353,432...1,407,437 JBrowse link
G Gnb3 G protein subunit beta 3 ISO DNA:polymorphism: :825C>T (human) RGD PMID:12624279 RGD:1580411 NCBI chrNW_004936709:970,169...977,059 JBrowse link
G Gpx3 glutathione peroxidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270708 NCBI chrNW_004936647:3,904,787...3,914,223 JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO RGD PMID:15994203 RGD:1625791 NCBI chrNW_004936599:2,437,061...2,456,141 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 chrNW_004936476:7,873,218...7,888,301 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 chrNW_004936664:2,978,546...2,995,145 JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:17350134 RGD:1601515 NCBI chrNW_004936570:1,009,344...1,010,654 JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chrNW_004936476:24,795,854...24,803,138 JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:decreased expression:muscle:defective protection against oxidative stress
CTD Direct Evidence: marker/mechanism|therapeutic
RGD
CTD
PMID:12941774, PMID:18375438, PMID:19171794 RGD:1601621 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
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 chrNW_004936668:62,103...81,549 JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21786805 NCBI chrNW_004936557:3,358,809...3,403,461 JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:18948349 RGD:10402862 NCBI chrNW_004936506:1,678,069...1,687,632 JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO associated with Peripheral Vascular Diseases RGD PMID:17062970 RGD:1624367 NCBI chrNW_004936565:335,238...394,683 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO associated with Obesity;protein:increased secretion:plasma (human)
protein:increased expression:serum
RGD PMID:11782876, PMID:19394054 RGD:1625753, RGD:2313467 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Igfals insulin like growth factor binding protein acid labile subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17726072 NCBI chrNW_004936694:2,205,294...2,207,343 JBrowse link
G Igfbp2 insulin like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:17259371, PMID:22537059 RGD:1626479 NCBI chrNW_004936586:671,760...696,783 JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO RGD PMID:17237715 RGD:2313762 NCBI chrNW_004936478:20,511,490...20,518,251 JBrowse link
G Igfbp6 insulin like growth factor binding protein 6 ISO human transgene overexpressed in mouse brain RGD PMID:15889232 RGD:2301717 NCBI chrNW_004936512:10,415,004...10,419,698 JBrowse link
G Igfbp7 insulin like growth factor binding protein 7 ISO protein:increased expression:serum RGD PMID:16873698 RGD:1626516 NCBI chrNW_004936482:19,119,339...19,186,679 JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11533494, PMID:19073766, PMID:29036520 RGD:10045961, RGD:7495768 NCBI chrNW_004936785:358,128...406,751 JBrowse link
G Il18 interleukin 18 treatment ISO associated with Graves Disease RGD PMID:16732281, PMID:23257837 RGD:14695532, RGD:8655938 NCBI chrNW_004936612:2,306,963...2,325,086 JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Obesity;mRNA:increased expression:adipose tissue
associated with hypothalamic disease
RGD PMID:16865359, PMID:29522769 RGD:13792596, RGD:1626632 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Il6r interleukin 6 receptor ISO protein:decreased expression:serum RGD PMID:14962155 RGD:1625431 NCBI chrNW_004936580:4,055,438...4,081,876 JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: therapeutic CTD PMID:20376352 NCBI chrNW_004936702:110,625...162,957 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 chrNW_004936498:1,524,128...1,539,680 JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:3322910, PMID:11522680, PMID:24648896, PMID:25796170 RGD:2311112 NCBI chrNW_004936816:1,002,137...1,003,357 JBrowse link
G Insr insulin receptor treatment
disease_progression
ISO ClinVar Annotator: match by term: Insulin resistance
CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:liver (rat)
RGD
ClinVar
CTD
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 chrNW_004936588:4,345,306...4,453,380 JBrowse link
G Irs1 insulin receptor substrate 1 ISO DNA:polymorphism:exon:G972R
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
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 chrNW_004936525:9,064,442...9,125,972 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 chrNW_004936472:2,772,187...2,796,398 JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004936543:8,460,526...8,508,524 JBrowse link
G Kcnj11 potassium inwardly rectifying channel subfamily J member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032110 NCBI chrNW_004936528:1,685,015...1,688,220 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 chrNW_004936609:4,451,526...4,458,665 JBrowse link
G Klf11 Kruppel like factor 11 ISO RGD PMID:18505768 RGD:2311539 NCBI chrNW_004936532:6,282,313...6,290,569 JBrowse link
G Klf14 Kruppel like factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29632379 NCBI chrNW_004936579:4,587,072...4,588,505 JBrowse link
G Klk1 kallikrein 1 ISO RGD PMID:17272402 RGD:1641794 NCBI chrNW_004936889:534,127...537,913 JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism|therapeutic
protein:increased expression:plasma
DNA:nonsense mutation:cds:
associated with Obesity
CTD
RGD
PMID:10753628, PMID:11342529, PMID:19296906, PMID:19419916, PMID:23800849, PMID:24150608 RGD:2311127, RGD:5128697, RGD:8549777 NCBI chrNW_004936479:15,394,966...15,411,334 JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism
associated with Obesity;DNA:polymorphism: :p.K656N (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K656N (human)
CTD
RGD
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 chrNW_004936591:5,771,371...5,846,177 JBrowse link
G Lipc lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:15504970 NCBI chrNW_004936471:19,604,083...19,733,721 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 chrNW_004936580:5,374,208...5,395,442 JBrowse link
G LOC101964456 ectonucleotide pyrophosphatase/phosphodiesterase family member 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 chrNW_004937067:194,375...246,607 JBrowse link
G LOC101966570 sodium/potassium-transporting ATPase subunit alpha-2 ISO mRNA:increased expression:skeletal muscle RGD PMID:14576983 RGD:1601252 NCBI chrNW_004936740:489,357...514,235 JBrowse link
G LOC101969021 somatotropin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559284 NCBI chrNW_004936541:4,524,397...4,528,234 JBrowse link
G Lpin1 lipin 1 ISO RGD PMID:17563064 RGD:1641822 NCBI chrNW_004936532:7,596,279...7,654,139 JBrowse link
G Lpl lipoprotein lipase ISO RGD PMID:18952837 RGD:2313300 NCBI chrNW_004936555:4,084,099...4,108,219 JBrowse link
G Lta lymphotoxin alpha no_association ISO DNA:polymorphism RGD PMID:9245742 RGD:1625035 NCBI chrNW_004936727:1,940,081...1,941,022 JBrowse link
G Mapk3 mitogen-activated protein kinase 3 treatment ISO associated with polycystic ovary syndrome RGD PMID:23349861 RGD:13800789 NCBI chrNW_004936501:12,342,670...12,390,650 JBrowse link
G Mc4r melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18454146 NCBI chrNW_004936497:4,636,370...4,638,205 JBrowse link
G Metrnl meteorin like, glial cell differentiation regulator ISO CTD Direct Evidence: therapeutic CTD PMID:30213948 NCBI chrNW_004936923:423,618...442,261 JBrowse link
G Mfn2 mitofusin 2 treatment ISO RGD PMID:24715199 RGD:13204838 NCBI chrNW_004936474:767,754...795,258 JBrowse link
G Mif macrophage migration inhibitory factor ISO protein:increased expression:plasma RGD PMID:12552367 RGD:1641955 NCBI chrNW_004936619:1,207,058...1,208,010 JBrowse link
G Mrc1 mannose receptor C-type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004936520:9,463,007...9,547,321 JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO associated with Polycystic Ovary Syndrome;protein:increased expression:serum RGD PMID:17582143 RGD:1642341 NCBI chrNW_004936479:17,682,070...17,716,713 JBrowse link
G Neil1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chrNW_004936471:34,184,273...34,192,675 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2 like 2 ISO associated with obesity; protein:decreased expression:hepatocyte: RGD PMID:32102936 RGD:21201281 NCBI chrNW_004936509:6,589,967...6,621,171 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 chrNW_004936538:4,052,277...4,097,051 JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic
protein:decreased expression:serum
CTD
RGD
PMID:11457755, PMID:12716763, PMID:12947532, PMID:18298918, PMID:19008412, PMID:28946194 RGD:13450950, RGD:2292098 NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Nppb natriuretic peptide B ISO associated with Obesity and Hypertension;protein:decreased expression:serum RGD PMID:17392814 RGD:1642192 NCBI chrNW_004936474:683,325...684,662 JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 susceptibility ISO RGD PMID:16557297 RGD:1625076 NCBI chrNW_004936492:13,315,265...13,365,186 JBrowse link
G Nr4a1 nuclear receptor subfamily 4 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chrNW_004936512:9,486,096...9,508,338 JBrowse link
G Nr4a3 nuclear receptor subfamily 4 group A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chrNW_004936524:8,252,321...8,290,747 JBrowse link
G Parl presenilin associated rhomboid like ISO mRNA:decreased expression:gastrocnemius (rat) RGD PMID:19859837 RGD:12880442 NCBI chrNW_004936578:5,945,765...5,992,972 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 chrNW_004936472:23,102,534...23,107,127 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 chrNW_004936480:1,188,408...1,273,210 JBrowse link
G Pklr pyruvate kinase L/R ISO mRNA, protein:decreased expression:liver RGD PMID:12958186 RGD:1625583 NCBI chrNW_004936580:4,770,977...4,799,316 JBrowse link
G Pla2g1b phospholipase A2 group IB susceptibility ISO RGD PMID:12376327 RGD:1302550 NCBI chrNW_004936668:608,848...616,982 JBrowse link
G Plac8 placenta associated 8 ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chrNW_004936738:1,484,905...1,503,181 JBrowse link
G Plekhs1 pleckstrin homology domain containing S1 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chrNW_004936486:4,130,916...4,159,110 JBrowse link
G Plin2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chrNW_004936652:1,039,248...1,059,983 JBrowse link
G Pltp phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chrNW_004936514:7,121,023...7,131,475 JBrowse link
G Pmch pro-melanin concentrating hormone ISO RGD PMID:16002548 RGD:1642484 NCBI chrNW_004936492:11,947,489...11,948,896 JBrowse link
G Pon1 paraoxonase 1 ISO DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001) RGD PMID:11788650 RGD:1642617 NCBI chrNW_004936585:4,954,871...4,979,560 JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:16168052, PMID:19322024, PMID:21324916 RGD:5683642 NCBI chrNW_004936629:3,672,445...3,725,645 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 chrNW_004936602:1,230,907...1,368,588 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA:decreased expression:liver (rat)
DNA:missense mutation:cds:p.G482S rs8192678 (human)
RGD PMID:22658649, PMID:23449621 RGD:7241821, RGD:7242170 NCBI chrNW_004936477:4,881,230...5,488,208 JBrowse link
G Ppargc1b PPARG coactivator 1 beta ISO RGD PMID:16896940 RGD:1642499 NCBI chrNW_004936504:5,099,334...5,198,279 JBrowse link
G Ppp1r3a protein phosphatase 1 regulatory subunit 3A ISO DNA:nonsense mutation
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
DNA:polymorphism:exon:p.D905Y (human)
RGD
ClinVar
PMID:7581368, PMID:12118251, PMID:30311386 RGD:1601446, RGD:1601468 NCBI chrNW_004936589:4,789,547...4,827,727 JBrowse link
G Prdx3 peroxiredoxin 3 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chrNW_004936486:8,597,479...8,606,727 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 chrNW_004936518:1,817,051...1,843,376 JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs
CTD
RGD
PMID:16567511, PMID:19934007 RGD:1625266 NCBI chrNW_004936522:4,872,360...4,939,873 JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chrNW_004936541:7,845,876...7,863,677 JBrowse link
G Prkcb protein kinase C beta ISO RGD PMID:12665248 RGD:1625515 NCBI chrNW_004936501:8,410,273...8,729,238 JBrowse link
G Prkcd protein kinase C delta ISO associated with Obesity;protein:increased activity:adipocyte
protein:altered localization:nucleus
RGD PMID:12217885, PMID:15507533 RGD:1642527, RGD:729667 NCBI chrNW_004936473:3,892,625...3,923,467 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 chrNW_004936484:8,048,239...8,166,058 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 chrNW_004936737:1,303,502...1,383,135 JBrowse link
G Prl prolactin ISO associated with Hyperprolactinemia RGD PMID:3888755 RGD:1642560 NCBI chrNW_004936552:7,204,298...7,212,632 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 chrNW_004936735:1,252,414...1,338,318 JBrowse link
G Ptgds prostaglandin D2 synthase susceptibility ISO RGD PMID:15970590 RGD:1642581 NCBI chrNW_004936669:961,246...964,584 JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO associated with Obesity RGD PMID:16039993 RGD:1642605 NCBI chrNW_004936675:216,970...325,670 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 chrNW_004936514:4,065,455...4,083,847 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 chrNW_004936474:24,908,103...24,984,678 JBrowse link
G Pyy peptide YY ISO protein:decreased expression RGD PMID:17045646 RGD:1625281 NCBI chrNW_004936541:470,806...471,518 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO mRNA:decreased expression:adipose tissue RGD PMID:23315497 RGD:8547988 NCBI chrNW_004936565:1,596,227...1,746,706 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 chrNW_004936599:3,800,142...3,810,583 JBrowse link
G Retn resistin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16493877, PMID:18789551 RGD:2313499 NCBI chrNW_004936588:4,705,295...4,706,653 JBrowse link
G Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO RGD PMID:16537411 RGD:2311703 NCBI chrNW_004936475:17,173,170...17,176,446 JBrowse link
G Selenop selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:14714311 NCBI chrNW_004936518:155,905...166,932 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 chrNW_004936543:1,032,543...1,040,956 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 chrNW_004936538:7,885,816...7,898,308 JBrowse link
G Shc1 SHC adaptor protein 1 ISO mRNA:increased expression:adipose tissue RGD PMID:17986714 RGD:1643171 NCBI chrNW_004936580:4,511,560...4,522,003 JBrowse link
G Si sucrase-isomaltase ISO associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine RGD PMID:9878708 RGD:1625544 NCBI chrNW_004936707:1,153,538...1,228,220 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 chrNW_004936521:10,296,097...10,316,673 JBrowse link
G Sirt4 sirtuin 4 ISO RGD PMID:20651844 RGD:9586052 NCBI chrNW_004936668:628,875...633,425 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 chrNW_004936596:3,426,807...3,451,259 JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:15168018 RGD:1625638 NCBI chrNW_004936487:15,877,075...15,905,752 JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO CTD Direct Evidence: therapeutic
associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle
CTD
RGD
PMID:11947963, PMID:18778861 RGD:2313624 NCBI chrNW_004936595:567,267...574,051 JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO associated with Diabetes Mellitus RGD PMID:15240880 RGD:1625677 NCBI chrNW_004936530:9,312,965...9,315,593 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 chrNW_004936594:2,932,297...2,935,358 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22829583 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Sorbs1 sorbin and SH3 domain containing 1 susceptibility ISO RGD PMID:17351624 RGD:1642731 NCBI chrNW_004936636:3,834,887...4,066,293 JBrowse link
G Sox6 SRY-box transcription factor 6 ISO RGD PMID:16148004 RGD:1581307 NCBI chrNW_004936528:2,331,706...2,912,423 JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP
associated with Fatty Liver;mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17241878, PMID:18692268, PMID:22658938 RGD:2308807, RGD:2308809 NCBI chrNW_004936741:1,408,669...1,419,717 JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20699619 NCBI chrNW_004936492:115,923...174,614 JBrowse link
G Stk11 serine/threonine kinase 11 ISO associated with obesity;protein:decreased expression:gastrocnemius RGD PMID:16352671 RGD:1601389 NCBI chrNW_004936588:579,816...601,033 JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: therapeutic CTD PMID:24497646 NCBI chrNW_004936644:1,328,327...1,395,856 JBrowse link
G Syn1 synapsin I ISO RGD PMID:29566703 RGD:13542091 NCBI chrNW_004936502:13,334,998...13,387,082 JBrowse link
G Tbc1d4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Insulin resistance ClinVar NCBI chrNW_004936511:5,789,683...5,858,930 JBrowse link
G Tcf7l2 transcription factor 7 like 2 ISO DNA:SNP (human) RGD PMID:19509102 RGD:2312433 NCBI chrNW_004936486:3,473,877...3,660,565 JBrowse link
G Tf transferrin ISO protein:increased expression:plasma RGD PMID:17350134 RGD:1601515 NCBI chrNW_004936529:6,856,042...6,895,989 JBrowse link
G Tfap2b transcription factor AP-2 beta ISO RGD PMID:16373417 RGD:1601544 NCBI chrNW_004936476:9,855,992...9,884,788 JBrowse link
G Thbd thrombomodulin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11453033 RGD:2312460 NCBI chrNW_004936620:2,563,900...2,568,117 JBrowse link
G Tlr4 toll like receptor 4 severity ISO associated with Obesity
protein:increased expression:skeletal muscle
RGD PMID:17426960, PMID:18633101, PMID:19675137 RGD:1620681, RGD:2312483, RGD:2312489 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
G Tnf tumor necrosis factor treatment ISO CTD Direct Evidence: marker/mechanism
associated with obesity
associated with Obesity
CTD
RGD
PMID:9832430, PMID:14764603, PMID:16202847, PMID:16493877, PMID:20943792, PMID:25016878 RGD:10450578, RGD:14995428, RGD:1580214, RGD:1580312 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO associated with obesity;protein:increased expression:serum RGD PMID:15936463 RGD:1620889 NCBI chrNW_004936470:27,571,263...27,598,725 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 chrNW_004936709:1,407,327...1,421,448 JBrowse link
G Trib3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20461355 NCBI chrNW_004936485:18,077,850...18,082,817 JBrowse link
G Tsc1 TSC complex subunit 1 ISO RGD PMID:15380067 RGD:1624197 NCBI chrNW_004936487:19,331,183...19,386,841 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 chrNW_004936535:7,258,146...7,265,475 JBrowse link
G Ucp2 uncoupling protein 2 ISO DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) RGD PMID:17870627 RGD:2313512 NCBI chrNW_004936498:3,059,700...3,066,112 JBrowse link
G Ucp3 uncoupling protein 3 ISO DNA:polymorphism:promoter:-55C>T (human) RGD PMID:17571165, PMID:17870627 RGD:2313512, RGD:2313515 NCBI chrNW_004936498:3,082,575...3,095,739 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO RGD PMID:11882338 RGD:1580351 NCBI chrNW_004936748:785,491...802,791 JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:25801026 RGD:14402022 NCBI chrNW_004936512:5,741,836...5,800,999 JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16631442 RGD:1625711 NCBI chrNW_004936709:1,578,137...1,741,877 JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:15486293, PMID:27325692 RGD:2326004 NCBI chrNW_004936657:2,891,171...2,895,409 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 chrNW_004936588:4,345,306...4,453,380 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 chrNW_004936559:7,177,887...7,312,660 JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain treatment ISO RGD PMID:25191539 RGD:10047118 NCBI chrNW_004936595:514,883...520,223 JBrowse link
G Acat2 acetyl-CoA acetyltransferase 2 susceptibility ISO DNA:polymorphism RGD PMID:14557872 RGD:1581921 NCBI chrNW_004936489:11,255,871...11,273,848 JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:serum
associated with vascular diseases; protein:decreased expression:plasma
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 chrNW_004936578:3,168,599...3,179,369 JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphisms: :p.R16G, p.Q27E RGD PMID:14557466 RGD:1601127 NCBI chrNW_004936504:5,985,407...5,987,453 JBrowse link
G Agt angiotensinogen ISO mRNA, protein:increased expression:adipose tissue RGD PMID:17260464 RGD:1601134 NCBI chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Agtr1 angiotensin II receptor type 1 susceptibility ISO DNA:snp:3' utr:c.5186A>C RGD PMID:17211857 RGD:1601146 NCBI chrNW_004936519:6,831,096...6,873,977 JBrowse link
G Alpl alkaline phosphatase, biomineralization associated susceptibility ISO protein:increased expression:serum RGD PMID:16249437 RGD:1601174 NCBI chrNW_004936474:7,209,196...7,229,899 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 chrNW_004936542:2,111,055...2,112,626 JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:decreased expression:serum RGD PMID:19817643 RGD:2313955 NCBI chrNW_004936903:520,420...521,726 JBrowse link
G Apoa5 apolipoprotein A5 susceptibility ISO DNA:polymorphism: :p.S19W (human) RGD PMID:18789138 RGD:2313315 NCBI chrNW_004936542:2,069,683...2,071,344 JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:plasma RGD PMID:16828905 RGD:1601198 NCBI chrNW_004936493:10,509,118...10,549,144 JBrowse link
G Apoc3 apolipoprotein C3 susceptibility ISO protein:increased expression:serum
DNA:polymorphism:promoter:-482C>T, -455T>C
RGD PMID:16298371, PMID:17416293 RGD:1601223, RGD:2306766 NCBI chrNW_004936542:2,106,927...2,108,412 JBrowse link
G Apom apolipoprotein M ISO protein:decreased expression:plasma RGD PMID:19539616 RGD:2314236 NCBI chrNW_004936727:1,868,751...1,874,347 JBrowse link
G Atm ATM serine/threonine kinase ISO RGD PMID:17084711 RGD:1601248 NCBI chrNW_004936551:359,134...534,672 JBrowse link
G Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit ISO RGD PMID:23320804 RGD:13838660 NCBI chrNW_004936720:2,363,933...2,378,426 JBrowse link
G Bche butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15907830 RGD:1601317 NCBI chrNW_004936707:1,784,338...1,913,401 JBrowse link
G Bdnf brain derived neurotrophic factor ISO RGD PMID:11935372 RGD:1580935 NCBI chrNW_004936540:5,530,081...5,582,765 JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:21760737 RGD:6483594 NCBI chrNW_004936580:5,480,023...5,482,288 JBrowse link
G C3 complement C3 ISO RGD PMID:16488421 RGD:2314030 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G Capn10 calpain 10 ISO DNA:polymorphism RGD PMID:16546286 RGD:1625050 NCBI chrNW_004936745:1,029,514...1,039,524 JBrowse link
G Cck cholecystokinin ISO protein:decreased expression:plasma:associated with Obesity, Morbid (MeSH:D009767) RGD PMID:17443025 RGD:1625798 NCBI chrNW_004936695:2,776,705...2,782,280 JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:plasma (rat) RGD PMID:19905967 RGD:4889977 NCBI chrNW_004936490:253,279...259,947 JBrowse link
G Cd36 CD36 molecule ISO DNA:SNPs: :multiple (human) RGD PMID:9916795, PMID:18305138 RGD:2307208, RGD:619666 NCBI chrNW_004936810:791,823...838,303 JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:16423632, PMID:20006362 RGD:2314214, RGD:5490591 NCBI chrNW_004936513:10,607,617...10,620,403 JBrowse link
G Chek2 checkpoint kinase 2 ISO mRNA:increased expression:heart left ventricle (rat) RGD PMID:25129990 RGD:10400905 NCBI chrNW_004936657:2,805,947...2,848,180 JBrowse link
G Ciita class II major histocompatibility complex transactivator ISO DNA:polymorphism:promoter:-168A>G RGD PMID:17183695 RGD:5491201 NCBI chrNW_004936530:9,033,510...9,073,341 JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16644639, PMID:21357282 RGD:6482318 NCBI chrNW_004936740:885,855...888,854 JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:21990351 RGD:10401057 NCBI chrNW_004936470:7,916,438...7,926,089 JBrowse link
G Dio2 iodothyronine deiodinase 2 ISO DNA:polymorphism: :p.T92A (human) RGD PMID:18198294 RGD:2313696 NCBI chrNW_004936488:8,769,555...8,783,157 JBrowse link
G Ephx2 epoxide hydrolase 2 ISO RGD PMID:22007192 RGD:5688391 NCBI chrNW_004936675:350,357...392,919 JBrowse link
G F3 coagulation factor III, tissue factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:12417540 RGD:2313865 NCBI chrNW_004936537:4,637,028...4,647,915 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 chrNW_004936869:146,567...149,929 JBrowse link
G Fabp4 fatty acid binding protein 4 ISO protein:increased expression:serum RGD PMID:16919044 RGD:1625406 NCBI chrNW_004936656:2,722,970...2,727,383 JBrowse link
G Fadd Fas associated via death domain ISO protein:increased expression:heart left ventricle RGD PMID:23657904 RGD:11344884 NCBI chrNW_004936599:633,501...639,412 JBrowse link
G Fgf19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chrNW_004936599:923,943...932,428 JBrowse link
G Fgf21 fibroblast growth factor 21 treatment ISO RGD PMID:25306889 RGD:10401890 NCBI chrNW_004936664:2,826,823...2,828,330 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:19374165, PMID:24868532 RGD:10449117, RGD:2307350 NCBI chrNW_004936809:1,269,900...1,285,853 JBrowse link
G Gckr glucokinase regulator ISO RGD PMID:19861489 RGD:7242423 NCBI chrNW_004936493:5,080,517...5,101,892 JBrowse link
G Ggt1 gamma-glutamyltransferase 1 susceptibility ISO RGD PMID:17095717, PMID:24847614 RGD:14747015, RGD:1601300 NCBI chrNW_004936619:762,278...791,610 JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO associated with Kidney Diseases;protein:decreased expression:serum
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
DNA:polymorphisms
In peritoneal dialysis patients
RGD
ClinVar
PMID:11502844, PMID:12050239, PMID:12161552, PMID:16204371, PMID:18552255, PMID:18996292 RGD:1625021, RGD:2313748, RGD:7242555 NCBI chrNW_004936602:3,037,862...3,044,863 JBrowse link
G Hdac3 histone deacetylase 3 ISO RGD PMID:21763752 RGD:9590183 NCBI chrNW_004936504:12,530,546...12,546,556 JBrowse link
G Hgf hepatocyte growth factor ISO study in the Japanese population RGD PMID:15713721 RGD:1642702 NCBI chrNW_004936734:354,798...428,356 JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chrNW_004936476:24,795,854...24,803,138 JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:19461650 RGD:5508692 NCBI chrNW_004936549:1,378,536...1,400,501 JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO RGD PMID:22193921 RGD:10763276 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
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 chrNW_004936530:2,401,053...2,425,989 JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO RGD PMID:14697232 RGD:1625074 NCBI chrNW_004936557:3,358,809...3,403,461 JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632216, PMID:18515891, PMID:19142101 NCBI chrNW_004936499:1,002,083...1,109,446 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:19394054 RGD:2313467 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 susceptibility ISO RGD PMID:31064654 RGD:14985252 NCBI chrNW_004936483:15,845,777...15,864,341 JBrowse link
G Igf2 insulin like growth factor 2 ISO DNA:insertion RGD PMID:18418699 RGD:2311520 NCBI chrNW_004936816:972,902...981,232 JBrowse link
G Igfbp2 insulin like growth factor binding protein 2 ISO RGD PMID:16915540 RGD:1626481 NCBI chrNW_004936586:671,760...696,783 JBrowse link
G Il18 interleukin 18 treatment ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16644639, PMID:19717152, PMID:24456735 RGD:4889401, RGD:8655985 NCBI chrNW_004936612:2,306,963...2,325,086 JBrowse link
G Il6r interleukin 6 receptor susceptibility ISO DNA:polymorphism: :p.D358A RGD PMID:16817825 RGD:1625430 NCBI chrNW_004936580:4,055,438...4,081,876 JBrowse link
G Inppl1 inositol polyphosphate phosphatase like 1 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs: :rs2276047,snp8(human)
CTD
RGD
PMID:15220217 RGD:1626127 NCBI chrNW_004936498:1,524,128...1,539,680 JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11274935, PMID:16259526 NCBI chrNW_004936816:1,002,137...1,003,357 JBrowse link
G Irs1 insulin receptor substrate 1 ISO protein:decreased expression:skeletal muscle RGD PMID:10842668 RGD:6482864 NCBI chrNW_004936525:9,064,442...9,125,972 JBrowse link
G Itgav integrin subunit alpha V ISO RGD PMID:16784924 RGD:1627640 NCBI chrNW_004936506:10,750,116...10,839,018 JBrowse link
G Kl klotho ISO mRNA:decreased expression:kidney: RGD PMID:11027545 RGD:10403056 NCBI chrNW_004936472:27,604,681...27,649,613 JBrowse link
G Lbp lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349936 NCBI chrNW_004936561:3,017,471...3,035,481 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 chrNW_004936479:15,394,966...15,411,334 JBrowse link
G Lipg lipase G, endothelial type ISO RGD PMID:16354105 RGD:1580865 NCBI chrNW_004936497:13,406,402...13,429,833 JBrowse link
G Lmna lamin A/C ISO DNA:SNP: :c.138747C>T (human) RGD PMID:15205219 RGD:2306121 NCBI chrNW_004936580:5,374,208...5,395,442 JBrowse link
G LOC101967032 cytochrome b-245 light chain ISO RGD PMID:16741160 RGD:2317864 NCBI chrNW_004936641:1,036,967...1,044,954 JBrowse link
G LOC101976500 haptoglobin treatment ISO protein:increased expression RGD PMID:17007284, PMID:20508159 RGD:11041859, RGD:1626341 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G Lrp6 LDL receptor related protein 6 ISO DNA:missense mutation:cds RGD PMID:17332414 RGD:2298725 NCBI chrNW_004936587:5,065,200...5,143,029 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 chrNW_004936477:20,234,582...20,250,756 JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO DNA:repeats:intron
protein:increased expression:plasma
RGD PMID:15922301, PMID:17556870 RGD:1642337, RGD:1642345 NCBI chrNW_004936479:17,682,070...17,716,713 JBrowse link
G Neil1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448, PMID:17389588 NCBI chrNW_004936471:34,184,273...34,192,675 JBrowse link
G Ngf nerve growth factor ISO RGD PMID:11935372 RGD:1580935 NCBI chrNW_004936627:635,784...641,290 JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:12947532, PMID:15269839, PMID:20876122, PMID:28361419, PMID:28967023, PMID:29127233 RGD:13450928, RGD:13461762 NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Nox1 NADPH oxidase 1 ISO protein:increased expression, increased activity:peripheral blood mononuclear cell (human) RGD PMID:16380495 RGD:1580973 NCBI chrNW_004936584:6,023,960...6,040,041 JBrowse link
G Nr1i2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chrNW_004936536:6,691,590...6,726,421 JBrowse link
G Nr1i3 nuclear receptor subfamily 1 group I member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chrNW_004936903:527,838...533,930 JBrowse link
G Pla2g4a phospholipase A2 group IVA ISO mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chrNW_004936481:3,559,377...3,689,797 JBrowse link
G Pla2g6 phospholipase A2 group VI ISO mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chrNW_004936492:3,011,752...3,060,962 JBrowse link
G Pla2g7 phospholipase A2 group VII ISO mRNA:increased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chrNW_004936476:13,609,847...13,646,174 JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:serum RGD PMID:18249307 RGD:2311664 NCBI chrNW_004936785:476,200...503,371 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 chrNW_004936585:4,954,871...4,979,560 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 chrNW_004936602:1,230,907...1,368,588 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA:decreased expression:gastrocnemius muscle (rat) RGD PMID:20383225 RGD:10059661 NCBI chrNW_004936477:4,881,230...5,488,208 JBrowse link
G Prl prolactin ISO RGD PMID:16303834 RGD:1642558 NCBI chrNW_004936552:7,204,298...7,212,632 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:liver RGD PMID:17883899 RGD:1642586 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Reg1a regenerating family member 1 alpha treatment ISO RGD PMID:21685239 RGD:10044029 NCBI chrNW_004936556:4,873,331...4,875,608 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 chrNW_004936588:4,705,295...4,706,653 JBrowse link
G Selp selectin P ISO RGD PMID:19061719 RGD:2312292 NCBI chrNW_004936481:17,076,660...17,112,501 JBrowse link
G Serpine1 serpin family E member 1 treatment ISO RGD PMID:26084260 RGD:11073736 NCBI chrNW_004936543:1,032,543...1,040,956 JBrowse link
G Shbg sex hormone binding globulin ISO protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16968811, PMID:17884445, PMID:17992261 RGD:2313785 NCBI chrNW_004936595:894,048...897,249 JBrowse link
G Sirt1 sirtuin 1 treatment ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:hippocampus (rat)
CTD
RGD
PMID:20068143, PMID:21514307, PMID:25356430 RGD:10053569, RGD:9585758 NCBI chrNW_004936521:10,296,097...10,316,673 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 chrNW_004936596:3,426,807...3,451,259 JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility ISO DNA:SNPs RGD PMID:14557872 RGD:1581921 NCBI chrNW_004936512:10,420,847...10,430,813 JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:28875871 RGD:26923956 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Tf transferrin susceptibility ISO protein:increased expression:serum RGD PMID:17416791 RGD:1601514 NCBI chrNW_004936529:6,856,042...6,895,989 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO mRNA:increased expression:left heart ventricle RGD PMID:18692559 RGD:2306739 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Thbd thrombomodulin ISO associated with Diabetic Nephropathies;protein:increased expression:plasma RGD PMID:16567841 RGD:1601641 NCBI chrNW_004936620:2,563,900...2,568,117 JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:24441717 RGD:10450604 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with obesity;protein:increased expression:plasma RGD PMID:17200772 RGD:1624178 NCBI chrNW_004936709:1,407,327...1,421,448 JBrowse link
G Trib3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18497449 NCBI chrNW_004936485:18,077,850...18,082,817 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO RGD PMID:18718174 RGD:2313109 NCBI chrNW_004936748:785,491...802,791 JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:22206010 RGD:7483588 NCBI chrNW_004936476:16,245,134...16,261,180 JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16764036 RGD:1625709 NCBI chrNW_004936709:1,578,137...1,741,877 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11942
    disease of anatomical entity 11503
      gastrointestinal system disease 3774
        pancreas disease 740
          endocrine pancreas disease 300
            abnormality of glucagon secretion 0
            gastrin secretion abnormality 0
            hyperinsulinism + 283
            hypoglycemia + 42
            hypoglycemic coma 0
            pancreatic cholera 0
            post-surgical hypoinsulinemia 0
paths to the root

NHLBI Logo

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