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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


show annotations for term's descendants           Sort by:
 
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO OMIM NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY ClinVar NCBI chr 1:82,803,155...82,835,465
Ensembl chr 1:117,800,843...117,833,462
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 Ensembl chr22:45,218,364...45,302,970 JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
JBrowse link
abdominal obesity-metabolic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO protein:increased oxidation:cardiac muscle cell RGD PMID:23997093 RGD:13782087 NCBI chr12:107,857,009...107,924,938
Ensembl chr12:111,246,508...111,311,923
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr11:65,300,889...65,305,020 JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:30172001 RGD:13792561 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G LPL lipoprotein lipase treatment ISO RGD PMID:26996629 RGD:13794382 NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
JBrowse link
G MTTP microsomal triglyceride transfer protein ISO OMIM NCBI chr 4:91,987,756...92,047,127
Ensembl chr 4:102,648,793...102,708,107
JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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 1:26,794,800...26,864,669 JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B ISO OMIM NCBI chr19:36,857,223...36,866,099
Ensembl chr19:45,405,431...45,411,387
JBrowse link
Abdominal Obesity-Metabolic Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CELA2A chymotrypsin like elastase 2A ISO OMIM NCBI chr 1:14,595,218...14,606,322
Ensembl chr 1:15,589,878...15,604,926
JBrowse link
G LIPE lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 ClinVar PMID:25741868 NCBI chr19:39,289,162...39,315,067
Ensembl chr19:47,881,292...47,907,066
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 1:67,666,784...67,687,891
Ensembl chr 1:69,623,775...69,644,904
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 chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
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 1:52,469,416...52,487,166
Ensembl chr 1:54,069,334...54,086,994
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
ClinVar Annotator: match by term: familial hyperinsulinism
DNA:deletion: :p.S1387del (human)
DNA:missense mutations:exon:p.G1485E (c.4454G>A), p.D1506E (c.4518C>A), p.M1544K (c.4541T>A) (human)
DNA:mutations:exon:multiple
DNA:mutations:exon, intron:multiple
DNA:missense mutations, nonsense mutations, splice-site mutations:CDS:multiple
CTD
ClinVar
RGD
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 chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
JBrowse link
G GCK glucokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15277402 NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO DNA:missense mutations: : RGD PMID:9571255 RGD:1302513 NCBI chr10:83,498,338...83,540,730 JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO DNA:deletion:cds (human) RGD PMID:14693719 RGD:2306664 NCBI chr 4:100,495,205...100,540,589 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 chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536
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
DNA:deletion, insertion:exon
CTD Direct Evidence: marker/mechanism
DNA:deletion, frameshift mutation, missense mutations:exon:multiple
DNA:missense mutations, frameshift mutations:CDS: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 chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729
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 chr 1:171,722,130...172,112,927
Ensembl chr 1:176,003,920...176,390,592
JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr13:56,513,065...56,706,491
Ensembl chr13:75,282,441...75,361,729
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 chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
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 chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729
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 chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO OMIM NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729
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 chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751
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 4:100,495,205...100,540,589 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 chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
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 chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
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 chr10:83,498,338...83,540,730 JBrowse link
G SHLD2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr10:83,639,020...83,643,420 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 1:115,555,561...115,600,302
Ensembl chr 1:124,755,250...124,800,032
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 chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
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 chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729
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 chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
JBrowse link
G ADCYAP1 adenylate cyclase activating polypeptide 1 ISO RGD PMID:14742740 RGD:2325255 NCBI chr18:13,414,618...13,421,668
Ensembl chr18:15,713,479...15,717,749
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:16414018 RGD:1599145 NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
JBrowse link
G ADIPOR1 adiponectin receptor 1 ISO mRNA:decreased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr 1:178,542,496...178,560,055
Ensembl chr 1:182,837,589...182,854,782
JBrowse link
G ADIPOR2 adiponectin receptor 2 ISO mRNA:increased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251
JBrowse link
G ADM adrenomedullin ISO associated with Obesity;protein:increased expression:plasma RGD PMID:15789277 RGD:1625301 NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842
JBrowse link
G ADRA1B adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480 RGD:1625772 NCBI chr 5:155,307,148...155,363,785
Ensembl chr 5:161,923,895...161,979,461
JBrowse link
G ADRB3 adrenoceptor beta 3 ISO associated with Obesity;mRNA:decreased expression:epidydimis, white fat RGD PMID:11014217 RGD:2313165 NCBI chr 8:37,263,730...37,267,475 JBrowse link
G AGT angiotensinogen ISO associated with obesity;DNA:polymorphism: :p.M235T RGD PMID:16713443 RGD:1601142 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:16565309 RGD:1642975 NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
JBrowse link
G BRD2 bromodomain containing 2 ISO RGD PMID:19883376 RGD:9586446 NCBI chr 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:aorta (rat)
CTD
RGD
PMID:17180354, PMID:29035695 RGD:8549642 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CD163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
JBrowse link
G CD40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO DNA:loss of heterozygosity:pancreatic islet RGD PMID:11723059 RGD:2311334 NCBI chr11:2,908,537...2,911,134 JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hyperinsulinemia ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 1:149,342,301...149,375,979
Ensembl chr 1:153,045,886...153,080,461
JBrowse link
G DDC dopa decarboxylase ISO protein:increased expression:pancreatic beta cell (human) RGD PMID:16403819 RGD:5129140 NCBI chr 7:51,101,169...51,206,031
Ensembl chr 7:51,345,228...51,449,710
JBrowse link
G FANCA FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
JBrowse link
G FANCC FA complementation group C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198
JBrowse link
G FBN1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
JBrowse link
G FOXA2 forkhead box A2 ISO RGD PMID:11445544 RGD:2313243 NCBI chr20:22,519,942...22,524,262 JBrowse link
G GCG glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:3019152 NCBI chr2B:49,436,379...49,446,559
Ensembl chr2B:166,806,016...166,811,155
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 chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chr2A:69,363,229...69,430,182
Ensembl chr2A:70,488,763...70,551,141
JBrowse link
G GIP gastric inhibitory polypeptide ISO protein:decreased expression:plasma (rat) RGD PMID:8059006 RGD:2312550 NCBI chr17:8,573,104...8,580,424 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 chr10:83,498,338...83,540,730 JBrowse link
G GPX1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15184668, PMID:18560803 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive ClinVar PMID:28492532 NCBI chr 4:100,495,205...100,540,589 JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19171794 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency
ClinVar Annotator: match by term: Hyperinsulinemia
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 chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536
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 7:23,415,922...23,420,767 JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:2991050, PMID:3511099, PMID:4019786, PMID:6382002, PMID:9667398 RGD:1625121 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
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 chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
JBrowse link
G IREB2 iron responsive element binding protein 2 ISO protein:increased expression:liver (rat) RGD PMID:25385842 RGD:12903966 NCBI chr15:57,367,314...57,430,322
Ensembl chr15:76,331,610...76,394,476
JBrowse link
G IRS1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734900 NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967
JBrowse link
G ITGAM integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406
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 chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729
JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9826672, PMID:22948215 RGD:12904911 NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:3519326, PMID:15093691, PMID:22949526, PMID:24384915, PMID:25222487, PMID:26537785, PMID:29988851, PMID:30689673 RGD:12911216 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
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 chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
JBrowse link
G LOC100971374 thioredoxin-interacting protein susceptibility ISO DNA:nonsense mutation RGD PMID:15047687 RGD:1642753 NCBI chr 1:90,007,878...90,012,055 JBrowse link
G LTA lymphotoxin alpha ISO associated with Coronary Arteriosclerosis RGD PMID:9726033 RGD:1625034 NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
JBrowse link
G MC4R melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23251400 NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257
JBrowse link
G MGRN1 mahogunin ring finger 1 ISO RGD PMID:16638826 RGD:1641947 NCBI chr16:3,550,352...3,615,693
Ensembl chr16:4,740,763...4,782,638
JBrowse link
G MRC1 mannose receptor C-type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr10:18,128,280...18,230,438
Ensembl chr10:18,398,310...18,500,367
JBrowse link
G MTTP microsomal triglyceride transfer protein susceptibility ISO DNA:polymorphism:promoter:-493G>T RGD PMID:11849654 RGD:1625490 NCBI chr 4:91,987,756...92,047,127
Ensembl chr 4:102,648,793...102,708,107
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 NCBI chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:19008412 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G NPY5R neuropeptide Y receptor Y5 ISO RGD PMID:15187000 RGD:1625494 NCBI chr 4:155,603,739...155,612,302 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 chr 3:180,862,434...180,921,197
Ensembl chr 3:189,032,816...189,088,036
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:47,143,081...47,209,034
Ensembl chr  X:55,374,807...55,441,024
JBrowse link
G PKLR pyruvate kinase L/R ISO mRNA:increased expression:liver RGD PMID:14766002 RGD:1625581 NCBI chr 1:130,634,111...130,646,644
Ensembl chr 1:134,239,565...134,251,351
JBrowse link
G PRKCD protein kinase C delta ISO RGD PMID:8826977 RGD:1625605 NCBI chr 3:53,104,137...53,135,588
Ensembl chr 3:54,330,328...54,357,910
JBrowse link
G PRKCQ protein kinase C theta ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus RGD PMID:8826977 RGD:1625605 NCBI chr10:6,458,138...6,610,781
Ensembl chr10:6,440,316...6,593,900
JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:ovary RGD PMID:18421022 RGD:2292519 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: therapeutic CTD PMID:28899902 NCBI chr20:46,854,918...46,929,509
Ensembl chr20:47,983,098...48,057,421
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 1:42,878,344...42,923,539
Ensembl chr 1:44,220,991...44,297,647
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased phosphorylation:liver, skeletal muscle RGD PMID:15692808 RGD:1643026 NCBI chr17:53,958,807...54,014,752
Ensembl chr17:58,799,069...58,853,653
JBrowse link
G SCD stearoyl-CoA desaturase ISO associated with Obesity RGD PMID:16284748 RGD:1580005 NCBI chr10:96,948,212...96,965,633 JBrowse link
G SHLD2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar NCBI chr10:83,639,020...83,643,420 JBrowse link
G SLC16A1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar PMID:25741868 NCBI chr 1:115,555,561...115,600,302
Ensembl chr 1:124,755,250...124,800,032
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 chr19:16,956,000...16,993,429
Ensembl chr19:17,929,785...17,966,171
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TSC22D3 TSC22 domain family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22556341 NCBI chr  X:96,806,179...96,870,020
Ensembl chr  X:107,179,077...107,242,902
JBrowse link
hypoglycemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 ISO RGD PMID:18776135 RGD:2301896 NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
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:105,252,903...105,257,171
Ensembl chr  X:115,671,594...115,672,685
JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISO RGD PMID:21979934 RGD:7248543 NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15454078 NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO RGD PMID:11557984 RGD:734816 NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
JBrowse link
G CRH corticotropin releasing hormone ISO RGD PMID:12606499 RGD:704397 NCBI chr 8:62,714,721...62,716,979
Ensembl chr 8:64,383,419...64,384,009
JBrowse link
G CYP2C9 cytochrome P450 family 2 subfamily C member 9 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphisms:cds:R144C, I359L (human) RGD PMID:15963101 RGD:2307154 NCBI chr10:91,547,865...91,598,918 JBrowse link
G EPO erythropoietin ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma RGD PMID:19211168 RGD:2313835 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
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 chr17:14,407,355...14,419,660
Ensembl chr17:14,635,667...14,646,674
JBrowse link
G GCK glucokinase ISO hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M RGD PMID:9435328 RGD:1601294 NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751
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 chr10:83,498,338...83,540,730 JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO mRNA, protein:increased expression:cerebellum (rat) RGD PMID:20056114 RGD:4107025 NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799
JBrowse link
G GSR glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G HDAC8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Hypoglycaemia ClinVar PMID:30311386 NCBI chr  X:61,565,790...61,811,588 JBrowse link
G HNF1A HNF1 homeobox A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787664 NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911
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 chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536
JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3185662 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO RGD PMID:11343120 RGD:737755 NCBI chr11:67,302,066...67,317,785
Ensembl chr11:70,527,017...70,540,846
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 chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Hypoglycemia ClinVar PMID:25741868 NCBI chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO RGD PMID:9988280 RGD:737788 NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960
JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO associated with Diabetes Mellitus, Experimental; mRNA:decreased expression:adrenal gland (rat) RGD PMID:15494609 RGD:5130725 NCBI chr17:17,618,399...17,620,691
Ensembl chr17:17,835,277...17,837,180
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16777972 Ensembl chr22:45,218,364...45,302,970 JBrowse link
G PPP1R3A protein phosphatase 1 regulatory subunit 3A ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:insertion/deletion:3' UTR (human) RGD PMID:9814479 RGD:1601469 NCBI chr 7:105,831,567...105,873,793
Ensembl chr 7:118,529,362...118,571,770
JBrowse link
G PRL prolactin ISO associated with Hypertension RGD PMID:16617309 RGD:1642557 NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829
JBrowse link
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17659342 NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G TH tyrosine hydroxylase ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat) RGD PMID:16396986 RGD:5130724 NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8774068 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G UCP3 uncoupling protein 3 ISO RGD PMID:10935638 RGD:737762 NCBI chr11:69,072,143...69,085,424
Ensembl chr11:72,380,180...72,389,274
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 chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
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 chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271
JBrowse link
Insulin Resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACACA acetyl-CoA carboxylase alpha ISO RGD PMID:16485039 RGD:1625727 NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651
JBrowse link
G ACACB acetyl-CoA carboxylase beta ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16485039, PMID:22658938 RGD:1625727 NCBI chr12:106,692,668...106,845,490
Ensembl chr12:110,086,374...110,239,847
JBrowse link
G ACP1 acid phosphatase 1 ISO associated with Obesity RGD PMID:17353188 RGD:2313180 NCBI chr2A:257,892...271,320
Ensembl chr2A:253,656...267,086
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:16788709 RGD:1625735 NCBI chr 4:176,920,811...176,991,495
Ensembl chr 4:189,145,403...189,198,646
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 chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
JBrowse link
G ADIPOR1 adiponectin receptor 1 resistance ISO associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C RGD PMID:17285539 RGD:1625762 NCBI chr 1:178,542,496...178,560,055
Ensembl chr 1:182,837,589...182,854,782
JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment ISO RGD PMID:24797033, PMID:30225267 RGD:21406435, RGD:25824940 NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251
JBrowse link
G ADORA1 adenosine A1 receptor treatment ISO associated with Obesity RGD PMID:11703426, PMID:15220221 RGD:1625243, RGD:2313807 NCBI chr 1:178,728,751...178,769,066
Ensembl chr 1:183,023,466...183,063,760
JBrowse link
G ADRA1B adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480 RGD:1625772 NCBI chr 5:155,307,148...155,363,785
Ensembl chr 5:161,923,895...161,979,461
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 chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
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 chr 8:37,263,730...37,267,475 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:105,252,903...105,257,171
Ensembl chr  X:115,671,594...115,672,685
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25734695 NCBI chr 7:17,949,254...17,998,737 JBrowse link
G AHSG alpha 2-HS glycoprotein susceptibility ISO protein:increased expression:plasma RGD PMID:16567827, PMID:17011519 RGD:1625793, RGD:1625794 NCBI chr 3:183,644,223...183,652,620
Ensembl chr 3:192,110,770...192,119,915
JBrowse link
G AKT2 AKT serine/threonine kinase 2 no_association ISO DNA:SNPs RGD PMID:17327441 RGD:1601155 NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member treatment ISO protein:altered expression, altered activity:liver (rat) RGD PMID:28688179 RGD:14981582 NCBI chr12:109,343,020...109,385,060 JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:19787041 RGD:5509625 NCBI chr17:4,686,339...4,696,877
Ensembl chr17:4,677,125...4,687,669
JBrowse link
G ANKRD26 ankyrin repeat domain 26 ISO RGD PMID:18162531 RGD:9681744 NCBI chr10:27,111,909...27,210,001
Ensembl chr10:27,478,452...27,572,261
JBrowse link
G APLN apelin ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chr  X:118,775,509...118,785,224 JBrowse link
G APOA2 apolipoprotein A2 ISO RGD PMID:11246886 RGD:2313957 NCBI chr 1:136,634,754...136,636,122 JBrowse link
G APOC1 apolipoprotein C1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11723061 RGD:2313951 NCBI chr19:41,862,168...41,878,231 JBrowse link
G APOC3 apolipoprotein C3 treatment
susceptibility
ISO RGD PMID:15007394, PMID:15734841 RGD:1580750, RGD:1601226 NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460
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:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357
JBrowse link
G ARG1 arginase 1 ISO protein:decreased activity:liver (rat) RGD PMID:20593143 RGD:4142796 NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ATM ATM serine/threonine kinase ISO protein:decreased expression:muscle: RGD PMID:18534819 RGD:8693659 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO mRNA:increased expression:skeletal muscle RGD PMID:14576983 RGD:1601252 NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303
JBrowse link
G BAD BCL2 associated agonist of cell death ISO protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart RGD PMID:21385329 RGD:10053645 NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257
JBrowse link
G BCHE butyrylcholinesterase ISO RGD PMID:17917325 RGD:2306776 NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481
JBrowse link
G BDKRB1 bradykinin receptor B1 ISO RGD PMID:17618300, PMID:17988733 RGD:5129214, RGD:5129217 NCBI chr14:76,885,923...76,894,456 JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO RGD PMID:25934999 RGD:11085488 NCBI chr11:58,046,842...58,064,219
Ensembl chr11:61,399,314...61,416,494
JBrowse link
G C1R complement C1r ISO protein:increased expression:adipocyte RGD PMID:17244723 RGD:1600551 NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18615583 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G CAPN10 calpain 10 ISO DNA:SNP:intron:rs3792267 (human) RGD PMID:11018080 RGD:7247736 NCBI chr2B:127,838,477...127,851,334
Ensembl chr2B:246,645,630...246,679,169
JBrowse link
G CASP1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22325453 NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:29748970 RGD:13782289 NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
JBrowse link
G CASP8 caspase 8 ISO RGD PMID:29748970 RGD:13782289 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
JBrowse link
G CAT catalase ISO associated with Obesity RGD PMID:19188683 RGD:5130761 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G CBLB Cbl proto-oncogene B ISO RGD PMID:17601987 RGD:2314038 NCBI chr 3:102,752,406...102,966,414
Ensembl chr 3:109,690,120...109,905,191
JBrowse link
G CCL2 C-C motif chemokine 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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CD163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
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 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
JBrowse link
G CD40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981
JBrowse link
G CNR1 cannabinoid receptor 1 ISO associated with Obesity RGD PMID:19553924 RGD:2314662 NCBI chr 6:86,017,141...86,044,889 JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr 4:40,913,015...40,934,594
Ensembl chr 4:46,762,659...46,784,014
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 chr13:26,926,788...26,979,767 JBrowse link
G CPE carboxypeptidase E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15358678 NCBI chr 4:157,575,157...157,705,173
Ensembl chr 4:169,659,007...169,780,739
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 chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425
JBrowse link
G DIO2 iodothyronine deiodinase 2 ISO DNA:SNP: :rs225014, p.T92A (human) RGD PMID:11872697 RGD:2313698 NCBI chr14:60,756,781...60,775,255 JBrowse link
G DRD1 dopamine receptor D1 ISO associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule RGD PMID:15798088 RGD:2302119 NCBI chr 5:170,787,115...170,792,383
Ensembl chr 5:177,688,917...177,690,257
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22238402 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
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 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644
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 chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995
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 chr 4:111,505,269...111,510,197
Ensembl chr 4:122,055,544...122,060,461
JBrowse link
G FABP3 fatty acid binding protein 3 severity ISO RGD PMID:16249436 RGD:1578459 NCBI chr 1:30,640,595...30,653,450
Ensembl chr 1:31,665,270...31,673,689
JBrowse link
G FABP4 fatty acid binding protein 4 ISO RGD PMID:17391165 RGD:1625407 NCBI chr 8:78,001,476...78,006,006
Ensembl chr 8:79,624,899...79,630,168
JBrowse link
G FANCA FA complementation group A ISO RGD PMID:22482891 RGD:11046266 NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
JBrowse link
G FANCC FA complementation group C ISO RGD PMID:22482891 RGD:11046266 NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198
JBrowse link
G FAS Fas cell surface death receptor treatment ISO associated with hypothalamic disease RGD PMID:29522769 RGD:13792596 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FGF19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr11:64,794,157...64,800,512
Ensembl chr11:68,085,306...68,090,028
JBrowse link
G FIS1 fission, mitochondrial 1 ISO protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr 7:93,381,058...93,386,483
Ensembl chr 7:106,621,211...106,626,683
JBrowse link
G FOXC2 forkhead box C2 ISO DNA:polymorphism:5'ut:-512C>T RGD PMID:12453913 RGD:1601219 NCBI chr16:67,237,476...67,239,545 JBrowse link
G FOXO1 forkhead box O1 ISO mRNA:increased expression:adipose tissue: RGD PMID:16041833 RGD:1599150 NCBI chr13:21,763,729...21,874,279 JBrowse link
G FXN frataxin ISO DNA:repeats:intron:GAA (human) RGD PMID:10969848 RGD:2307049 NCBI chr 9:55,690,483...55,754,755
Ensembl chr 9:67,800,579...67,866,031
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO associated with Obesity;protein:increased expression:pancreas RGD PMID:23015612 RGD:10449129 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
JBrowse link
G GCK glucokinase ISO protein:increased expression:pancreatic islet RGD PMID:19039094 RGD:7488970 NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chr2A:69,363,229...69,430,182
Ensembl chr2A:70,488,763...70,551,141
JBrowse link
G GNB3 G protein subunit beta 3 ISO DNA:polymorphism: :825C>T (human) RGD PMID:12624279 RGD:1580411 NCBI chr12:6,971,854...6,979,214
Ensembl chr12:6,883,280...6,890,692
JBrowse link
G GPX3 glutathione peroxidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270708 NCBI chr 5:146,447,939...146,456,476 JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO RGD PMID:15994203 RGD:1625791 NCBI chr11:62,624,647...62,644,846
Ensembl chr11:65,939,164...65,959,066
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 6:52,532,942...52,550,404
Ensembl chr 6:54,171,318...54,188,976
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 chr19:45,970,127...45,995,269
Ensembl chr19:54,761,479...54,786,726
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:17350134 RGD:1601515 NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861
JBrowse link
G HMGA1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr 6:33,807,171...33,816,603 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 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
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 chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21786805 NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:18948349 RGD:10402862 NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO associated with Peripheral Vascular Diseases RGD PMID:17062970 RGD:1624367 NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826
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 chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17726072 NCBI chr16:412,671...418,351
Ensembl chr16:1,843,979...1,848,442
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 chr2B:103,893,724...103,925,318 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO RGD PMID:17237715 RGD:2313762 NCBI chr 7:46,564,234...46,573,145 JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 ISO human transgene overexpressed in mouse brain RGD PMID:15889232 RGD:2301717 NCBI chr12:35,654,172...35,659,115
Ensembl chr12:36,435,221...36,440,132
JBrowse link
G IGFBP7 insulin like growth factor binding protein 7 ISO protein:increased expression:serum RGD PMID:16873698 RGD:1626516 NCBI chr 4:66,808,845...66,888,301
Ensembl chr 4:73,382,745...73,462,087
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 chr 8:41,515,613...41,576,229
Ensembl chr 8:38,960,594...39,020,971
JBrowse link
G IL18 interleukin 18 treatment ISO associated with Graves Disease RGD PMID:16732281, PMID:23257837 RGD:14695532, RGD:8655938 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
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 chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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 7:23,415,922...23,420,767 JBrowse link
G IL6R interleukin 6 receptor ISO protein:decreased expression:serum RGD PMID:14962155 RGD:1625431 NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
JBrowse link
G IL7 interleukin 7 ISO CTD Direct Evidence: therapeutic CTD PMID:20376352 NCBI chr 8:75,254,166...75,337,373
Ensembl chr 8:76,895,095...76,966,918
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 chr11:67,302,066...67,317,785
Ensembl chr11:70,527,017...70,540,846
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:3322910, PMID:11522680, PMID:24648896, PMID:25796170 RGD:2311112 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
JBrowse link
G INSR insulin receptor treatment
disease_progression
ISO ClinVar Annotator: match by term: Insulin resistance
mRNA, protein:decreased expression:liver (rat)
CTD Direct Evidence: marker/mechanism
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 chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
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 chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967
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 chr13:90,886,095...90,917,724 JBrowse link
G ITGAM integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032110 NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729
JBrowse link
G KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 ISO mRNA, protein:decreased expression:aorta, mesenteric artery RGD PMID:21425425 RGD:10412047 NCBI chr 5:165,712,588...165,747,948
Ensembl chr 5:172,495,762...172,507,318
JBrowse link
G KLF11 Kruppel like factor 11 ISO RGD PMID:18505768 RGD:2311539 NCBI chr2A:10,027,152...10,051,445
Ensembl chr2A:10,195,564...10,208,220
JBrowse link
G KLF14 Kruppel like factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29632379 NCBI chr 7:122,695,015...122,696,635 JBrowse link
G KLK1 kallikrein 1 ISO RGD PMID:17272402 RGD:1641794 NCBI chr19:47,784,368...47,789,004
Ensembl chr19:56,677,579...56,682,216
JBrowse link
G LEP leptin ISO protein:increased expression:plasma
associated with Obesity
DNA:nonsense mutation:cds:
CTD Direct Evidence: marker/mechanism|therapeutic
RGD
CTD
PMID:10753628, PMID:11342529, PMID:19296906, PMID:19419916, PMID:23800849, PMID:24150608 RGD:2311127, RGD:5128697, RGD:8549777 NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
JBrowse link
G LEPR leptin receptor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K656N (human)
associated with Obesity;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 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
JBrowse link
G LIPC lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:15504970 NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
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 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G LOC100971425 somatotropin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559284 NCBI chr17:58,010,848...58,013,421 JBrowse link
G LOC100972295 cardiotrophin-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr16:24,065,866...24,072,973 JBrowse link
G LOC100980944 delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chr19:35,909,348...35,925,686
Ensembl chr19:44,479,561...44,489,355
JBrowse link
G LOC100990650 guanine nucleotide-binding protein G(s) subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17062894 NCBI chr20:55,190,607...55,262,245 JBrowse link
G LOC100995326 serotransferrin ISO protein:increased expression:plasma RGD PMID:17350134 RGD:1601515 NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476
JBrowse link
G LPIN1 lipin 1 ISO RGD PMID:17563064 RGD:1641822 NCBI chr2A:11,664,727...11,815,497
Ensembl chr2A:11,857,961...11,961,551
JBrowse link
G LPL lipoprotein lipase ISO RGD PMID:18952837 RGD:2313300 NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
JBrowse link
G LTA lymphotoxin alpha no_association ISO DNA:polymorphism RGD PMID:9245742 RGD:1625035 NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO associated with polycystic ovary syndrome RGD PMID:23349861 RGD:13800789 Ensembl chr16:30,489,362...30,498,017 JBrowse link
G MC4R melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18454146 NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257
JBrowse link
G METRNL meteorin like, glial cell differentiation regulator ISO CTD Direct Evidence: therapeutic CTD PMID:30213948 NCBI chr17:77,511,681...77,527,677 JBrowse link
G MFN2 mitofusin 2 treatment ISO RGD PMID:24715199 RGD:13204838 NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
G MIF macrophage migration inhibitory factor ISO protein:increased expression:plasma RGD PMID:12552367 RGD:1641955 NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009
JBrowse link
G MRC1 mannose receptor C-type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr10:18,128,280...18,230,438
Ensembl chr10:18,398,310...18,500,367
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase ISO associated with Polycystic Ovary Syndrome;protein:increased expression:serum RGD PMID:17582143 RGD:1642341 NCBI chr 7:98,227,071...98,262,254 JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO associated with obesity; protein:decreased expression:hepatocyte: RGD PMID:32102936 RGD:21201281 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
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 chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism|therapeutic
RGD
CTD
PMID:11457755, PMID:12716763, PMID:12947532, PMID:18298918, PMID:19008412, PMID:28946194 RGD:13450950, RGD:2292098 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G NPPB natriuretic peptide B ISO associated with Obesity and Hypertension;protein:decreased expression:serum RGD PMID:17392814 RGD:1642192 NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 susceptibility ISO RGD PMID:16557297 RGD:1625076 NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058
JBrowse link
G NR4A1 nuclear receptor subfamily 4 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chr12:36,703,903...36,740,211
Ensembl chr12:37,480,300...37,501,188
JBrowse link
G NR4A3 nuclear receptor subfamily 4 group A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chr 9:70,907,056...70,950,221 JBrowse link
G PARL presenilin associated rhomboid like ISO mRNA:decreased expression:gastrocnemius (rat) RGD PMID:19859837 RGD:12880442 NCBI chr 3:180,862,434...180,921,197
Ensembl chr 3:189,032,816...189,088,036
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 chr13:9,199,572...9,206,202 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 chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960
JBrowse link
G PKLR pyruvate kinase L/R ISO mRNA, protein:decreased expression:liver RGD PMID:12958186 RGD:1625583 NCBI chr 1:130,634,111...130,646,644
Ensembl chr 1:134,239,565...134,251,351
JBrowse link
G PLA2G1B phospholipase A2 group IB susceptibility ISO RGD PMID:12376327 RGD:1302550 NCBI chr12:117,896,729...117,900,946
Ensembl chr12:121,270,082...121,275,740
JBrowse link
G PLAC8 placenta associated 8 ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr 4:41,089,847...41,115,061
Ensembl chr 4:46,943,940...46,964,131
JBrowse link
G PLEKHS1 pleckstrin homology domain containing S1 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr10:110,350,571...110,382,677
Ensembl chr10:113,784,348...113,813,542
JBrowse link
G PLIN2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr 9:18,928,455...18,951,132
Ensembl chr 9:19,421,928...19,462,222
JBrowse link
G PLTP phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr20:42,237,434...42,251,189
Ensembl chr20:43,324,609...43,337,999
JBrowse link
G PMCH pro-melanin concentrating hormone ISO RGD PMID:16002548 RGD:1642484 NCBI chr12:99,783,925...99,785,292
Ensembl chr12:103,181,497...103,182,616
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 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:16168052, PMID:19322024, PMID:21324916 RGD:5683642 Ensembl chr22:45,218,364...45,302,970 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 chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
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 chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
JBrowse link
G PPARGC1B PPARG coactivator 1 beta ISO RGD PMID:16896940 RGD:1642499 NCBI chr 5:145,154,517...145,315,567
Ensembl chr 5:151,203,088...151,278,837
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 chr 7:105,831,567...105,873,793
Ensembl chr 7:118,529,362...118,571,770
JBrowse link
G PRDX3 peroxiredoxin 3 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr10:115,738,346...115,749,482
Ensembl chr10:119,162,714...119,173,845
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 chr 5:69,581,748...69,620,721
Ensembl chr 5:74,627,830...74,666,505
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 1:55,928,577...55,998,628
Ensembl chr 1:57,664,237...57,702,227
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943
JBrowse link
G PRKCB protein kinase C beta ISO RGD PMID:12665248 RGD:1625515 NCBI chr16:13,888,936...14,268,759
Ensembl chr16:24,091,289...24,466,203
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 chr 3:53,104,137...53,135,588
Ensembl chr 3:54,330,328...54,357,910
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 chr10:6,458,138...6,610,781
Ensembl chr10:6,440,316...6,593,900
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 1:763,942...901,531
Ensembl chr 1:1,920,219...2,045,855
JBrowse link
G PRL prolactin ISO associated with Hyperprolactinemia RGD PMID:3888755 RGD:1642560 NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829
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 chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G PTGDS prostaglandin D2 synthase susceptibility ISO RGD PMID:15970590 RGD:1642581 NCBI chr 9:108,037,994...108,042,136 JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO associated with Obesity RGD PMID:16039993 RGD:1642605 NCBI chr 8:26,580,855...26,729,378
Ensembl chr 8:23,869,825...23,932,474
JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO DNA:insertion:3'utr:1484insG
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:10744717, PMID:11833006 RGD:1625240 NCBI chr20:46,854,918...46,929,509
Ensembl chr20:47,983,098...48,057,421
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 1:42,878,344...42,923,539
Ensembl chr 1:44,220,991...44,297,647
JBrowse link
G PYY peptide YY ISO protein:decreased expression RGD PMID:17045646 RGD:1625281 NCBI chr17:13,390,801...13,442,536
Ensembl chr17:13,608,080...13,608,827
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO mRNA:decreased expression:adipose tissue RGD PMID:23315497 RGD:8547988 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
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 chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
JBrowse link
G RETN resistin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16493877, PMID:18789551 RGD:2313499 NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909
JBrowse link
G RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO RGD PMID:16537411 RGD:2311703 NCBI chr16:47,236,886...47,240,799 JBrowse link
G SELENOP selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:14714311 NCBI chr 5:67,570,087...67,582,192
Ensembl chr 5:72,619,607...72,627,213
JBrowse link
G SERPINA1 serpin family A member 1 ISO RGD PMID:16752182 RGD:1601202 NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419
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 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO human protein in a rat model
associated with Hypertension
RGD PMID:19073347, PMID:22714715, PMID:24288442 RGD:2312339, RGD:8642993, RGD:8655563 NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
JBrowse link
G SHC1 SHC adaptor protein 1 ISO mRNA:increased expression:adipose tissue RGD PMID:17986714 RGD:1643171 NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008
JBrowse link
G SI sucrase-isomaltase ISO associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine RGD PMID:9878708 RGD:1625544 NCBI chr 3:161,961,038...162,104,054
Ensembl chr 3:170,057,750...170,154,502
JBrowse link
G SIRT1 sirtuin 1 treatment ISO associated with Obesity
CTD Direct Evidence: marker/mechanism|therapeutic
RGD
CTD
PMID:19996381, PMID:20068143, PMID:21321189, PMID:24442997, PMID:25849131, PMID:26026874 RGD:9585759 NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
JBrowse link
G SIRT4 sirtuin 4 ISO RGD PMID:20651844 RGD:9586052 NCBI chr12:117,867,453...117,887,968
Ensembl chr12:121,241,112...121,261,777
JBrowse link
G SLC27A1 solute carrier family 27 member 1 ISO protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet RGD PMID:17400720 RGD:1642795 NCBI chr19:16,956,000...16,993,429
Ensembl chr19:17,929,785...17,966,171
JBrowse link
G SLC27A4 solute carrier family 27 member 4 ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:15168018 RGD:1625638 NCBI chr 9:99,463,338...99,483,802
Ensembl chr 9:128,133,365...128,151,077
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 chr17:7,312,605...7,319,430
Ensembl chr17:7,299,966...7,306,344
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO associated with Diabetes Mellitus RGD PMID:15240880 RGD:1625677 NCBI chr16:10,196,432...10,198,205 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 chr17:72,433,206...72,436,500
Ensembl chr17:77,983,389...77,984,066
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22829583 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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 4:19,195,941...19,201,298
Ensembl chr 4:24,485,059...24,485,781
JBrowse link
G SORBS1 sorbin and SH3 domain containing 1 susceptibility ISO RGD PMID:17351624 RGD:1642731 NCBI chr10:91,922,292...92,172,339
Ensembl chr10:95,432,824...95,559,022
JBrowse link
G SOX6 SRY-box transcription factor 6 ISO RGD PMID:16148004 RGD:1581307 NCBI chr11:16,053,730...16,488,566
Ensembl chr11:15,747,495...16,175,246
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
associated with Fatty Liver;mRNA:increased expression:liver
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP
CTD
RGD
PMID:17241878, PMID:18692268, PMID:22658938 RGD:2308807, RGD:2308809 NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20699619 NCBI chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947
JBrowse link
G STK11 serine/threonine kinase 11 ISO associated with obesity;protein:decreased expression:gastrocnemius RGD PMID:16352671 RGD:1601389 Ensembl chr19:1,188,537...1,210,677 JBrowse link
G STS steroid sulfatase ISO CTD Direct Evidence: therapeutic CTD PMID:24497646 Ensembl chr  X:7,047,017...7,207,540 JBrowse link
G SYN1 synapsin I ISO RGD PMID:29566703 RGD:13542091 NCBI chr  X:40,007,777...40,055,801 JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Insulin resistance ClinVar NCBI chr13:56,513,065...56,706,491
Ensembl chr13:75,282,441...75,361,729
JBrowse link
G TCF7L2 transcription factor 7 like 2 ISO DNA:SNP (human) RGD PMID:19509102 RGD:2312433 NCBI chr10:109,541,524...109,759,499
Ensembl chr10:112,978,167...113,192,281
JBrowse link
G TFAP2B transcription factor AP-2 beta ISO RGD PMID:16373417 RGD:1601544 NCBI chr 6:50,376,157...50,406,740
Ensembl chr 6:51,635,899...51,664,691
JBrowse link
G THBD thrombomodulin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11453033 RGD:2312460 NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812
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 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNF tumor necrosis factor treatment ISO associated with obesity
associated with Obesity
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9832430, PMID:14764603, PMID:16202847, PMID:16493877, PMID:20943792, PMID:25016878 RGD:10450578, RGD:14995428, RGD:1580214, RGD:1580312 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO associated with obesity;protein:increased expression:serum RGD PMID:15936463 RGD:1620889 NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422
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 chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
JBrowse link
G TRIB3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20461355 NCBI chr20:583,267...605,416
Ensembl chr20:359,879...375,486
JBrowse link
G TSC1 TSC complex subunit 1 ISO RGD PMID:15380067 RGD:1624197 NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
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 4:132,921,033...132,930,714
Ensembl chr 4:144,230,858...144,240,178
JBrowse link
G UCP2 uncoupling protein 2 ISO DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) RGD PMID:17870627 RGD:2313512 NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185
JBrowse link
G UCP3 uncoupling protein 3 ISO DNA:polymorphism:promoter:-55C>T (human) RGD PMID:17571165, PMID:17870627 RGD:2313512, RGD:2313515 NCBI chr11:69,072,143...69,085,424
Ensembl chr11:72,380,180...72,389,274
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:11882338 RGD:1580351 NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
JBrowse link
G VDR vitamin D receptor ISO RGD PMID:25801026 RGD:14402022 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
G VWF von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16631442 RGD:1625711 NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153
JBrowse link
G XBP1 X-box binding protein 1 ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:15486293, PMID:27325692 RGD:2326004 NCBI chr22:9,863,479...9,869,491 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 chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
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 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain treatment ISO RGD PMID:25191539 RGD:10047118 NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417
JBrowse link
G ACAT2 acetyl-CoA acetyltransferase 2 susceptibility ISO DNA:polymorphism RGD PMID:14557872 RGD:1581921 NCBI chr 6:157,644,894...157,661,965
Ensembl chr 6:162,656,497...162,673,606
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 chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
JBrowse link
G ADRB2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphisms: :p.R16G, p.Q27E RGD PMID:14557466 RGD:1601127 NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
JBrowse link
G AGT angiotensinogen ISO mRNA, protein:increased expression:adipose tissue RGD PMID:17260464 RGD:1601134 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G AGTR1 angiotensin II receptor type 1 susceptibility ISO DNA:snp:3' utr:c.5186A>C RGD PMID:17211857 RGD:1601146 NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
JBrowse link
G ALDOA aldolase, fructose-bisphosphate A ISO mRNA:increased expression:aorta RGD PMID:21890532 RGD:13673877
G ALPL alkaline phosphatase, biomineralization associated susceptibility ISO protein:increased expression:serum RGD PMID:16249437 RGD:1601174 NCBI chr 1:20,702,509...20,772,301
Ensembl chr 1:21,667,732...21,736,688
JBrowse link
G APOA1 apolipoprotein A1 ISO protein:decreased expression:serum RGD PMID:17217166, PMID:21410987 RGD:1601183, RGD:5508220 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
JBrowse link
G APOA2 apolipoprotein A2 ISO protein:decreased expression:serum RGD PMID:19817643 RGD:2313955 NCBI chr 1:136,634,754...136,636,122 JBrowse link
G APOA5 apolipoprotein A5 susceptibility ISO DNA:polymorphism: :p.S19W (human) RGD PMID:18789138 RGD:2313315 NCBI chr11:111,625,403...111,627,932
Ensembl chr11:115,559,231...115,562,286
JBrowse link
G APOB apolipoprotein B ISO protein:increased expression:plasma RGD PMID:16828905 RGD:1601198 NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
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 chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460
JBrowse link
G APOM apolipoprotein M ISO protein:decreased expression:plasma RGD PMID:19539616 RGD:2314236 NCBI chr 6:31,313,543...31,319,374
Ensembl chr 6:32,206,514...32,209,249
JBrowse link
G ATM ATM serine/threonine kinase ISO RGD PMID:17084711 RGD:1601248 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit ISO RGD PMID:23320804 RGD:13838660 NCBI chr13:5,972,372...6,004,411
Ensembl chr13:24,268,003...24,294,136
JBrowse link
G BCHE butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15907830 RGD:1601317 NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481
JBrowse link
G BDNF brain derived neurotrophic factor ISO RGD PMID:11935372 RGD:1580935 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:21760737 RGD:6483594 NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432
JBrowse link
G C3 complement C3 ISO RGD PMID:16488421 RGD:2314030 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G CAPN10 calpain 10 ISO DNA:polymorphism RGD PMID:16546286 RGD:1625050 NCBI chr2B:127,838,477...127,851,334
Ensembl chr2B:246,645,630...246,679,169
JBrowse link
G CCK cholecystokinin ISO protein:decreased expression:plasma:associated with Obesity, Morbid (MeSH:D009767) RGD PMID:17443025 RGD:1625798 NCBI chr 3:42,168,012...42,176,358
Ensembl chr 3:42,431,022...42,439,396
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16188961, PMID:18486454 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:plasma (rat) RGD PMID:19905967 RGD:4889977 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CD36 CD36 molecule ISO DNA:SNPs: :multiple (human) RGD PMID:9916795, PMID:18305138 RGD:2307208, RGD:619666 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:serum RGD PMID:16423632, PMID:20006362 RGD:2314214, RGD:5490591 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
JBrowse link
G CELA2A chymotrypsin like elastase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31358993 NCBI chr 1:14,595,218...14,606,322
Ensembl chr 1:15,589,878...15,604,926
JBrowse link
G CHEK2 checkpoint kinase 2 ISO mRNA:increased expression:heart left ventricle (rat) RGD PMID:25129990 RGD:10400905 NCBI chr22:9,757,038...9,811,171 JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO DNA:polymorphism:promoter:-168A>G RGD PMID:17183695 RGD:5491201 NCBI chr16:9,819,440...9,885,379
Ensembl chr16:11,041,434...11,090,485
JBrowse link
G CRP C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16644639, PMID:21357282 RGD:6482318 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CST3 cystatin C ISO protein:increased expression:serum (human) RGD PMID:19887833 RGD:2314295 NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425
JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:21990351 RGD:10401057 NCBI chr 8:141,079,948...141,090,619
Ensembl chr 8:144,064,587...144,080,155
JBrowse link
G DIO2 iodothyronine deiodinase 2 ISO DNA:polymorphism: :p.T92A (human) RGD PMID:18198294 RGD:2313696 NCBI chr14:60,756,781...60,775,255 JBrowse link
G EPHX2 epoxide hydrolase 2 ISO RGD PMID:22007192 RGD:5688391 NCBI chr 8:26,761,090...26,818,436
Ensembl chr 8:23,964,094...24,017,749
JBrowse link
G F3 coagulation factor III, tissue factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:12417540 RGD:2313865 NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050
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 4:111,505,269...111,510,197
Ensembl chr 4:122,055,544...122,060,461
JBrowse link
G FABP4 fatty acid binding protein 4 ISO protein:increased expression:serum RGD PMID:16919044 RGD:1625406 NCBI chr 8:78,001,476...78,006,006
Ensembl chr 8:79,624,899...79,630,168
JBrowse link
G FADD Fas associated via death domain ISO protein:increased expression:heart left ventricle RGD PMID:23657904 RGD:11344884 NCBI chr11:65,300,889...65,305,020 JBrowse link
G FGF19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr11:64,794,157...64,800,512
Ensembl chr11:68,085,306...68,090,028
JBrowse link
G FGF21 fibroblast growth factor 21 treatment ISO RGD PMID:25306889 RGD:10401890 NCBI chr19:45,755,466...45,758,472 JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:19374165, PMID:24868532 RGD:10449117, RGD:2307350 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
JBrowse link
G GCKR glucokinase regulator ISO RGD PMID:19861489 RGD:7242423 NCBI chr2A:27,497,938...27,530,650
Ensembl chr2A:27,587,077...27,613,927
JBrowse link
G GGT1 gamma-glutamyltransferase 1 susceptibility ISO RGD PMID:17095717, PMID:24847614 RGD:14747015, RGD:1601300 NCBI chr22:5,424,334...5,469,705 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
In peritoneal dialysis patients
DNA:polymorphisms
RGD
ClinVar
PMID:11502844, PMID:12050239, PMID:12161552, PMID:16204371, PMID:18552255, PMID:18996292 RGD:1625021, RGD:2313748, RGD:7242555 NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723
JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO RGD PMID:29452132 RGD:14700976 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G HDAC3 histone deacetylase 3 ISO RGD PMID:21763752 RGD:9590183 NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322
JBrowse link
G HGF hepatocyte growth factor ISO study in the Japanese population RGD PMID:15713721 RGD:1642702 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
JBrowse link
G HMGA1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr 6:33,807,171...33,816,603 JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:19461650 RGD:5508692 NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:22193921 RGD:10763276 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
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 chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO RGD PMID:14697232 RGD:1625074 NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765
JBrowse link
G HTR2C 5-hydroxytryptamine receptor 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632216, PMID:18515891, PMID:19142101 NCBI chr  X:103,673,172...103,999,133
Ensembl chr  X:114,199,485...114,503,201
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:19394054 RGD:2313467 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 susceptibility ISO RGD PMID:31064654 RGD:14985252 NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
JBrowse link
G IGF2 insulin like growth factor 2 ISO DNA:insertion RGD PMID:18418699 RGD:2311520 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
JBrowse link
G IGFBP2 insulin like growth factor binding protein 2 ISO RGD PMID:16915540 RGD:1626481 NCBI chr2B:103,893,724...103,925,318 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 chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16644639 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IL6R interleukin 6 receptor susceptibility ISO DNA:polymorphism: :p.D358A RGD PMID:16817825 RGD:1625430 NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
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 chr11:67,302,066...67,317,785
Ensembl chr11:70,527,017...70,540,846
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11274935, PMID:16259526 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
JBrowse link
G IRS1 insulin receptor substrate 1 ISO protein:decreased expression:skeletal muscle RGD PMID:10842668 RGD:6482864 NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967
JBrowse link
G ITGAV integrin subunit alpha V ISO RGD PMID:16784924 RGD:1627640 NCBI chr2B:73,880,962...73,972,486
Ensembl chr2B:191,680,655...191,773,028
JBrowse link
G KL klotho ISO mRNA:decreased expression:kidney: RGD PMID:11027545 RGD:10403056 NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458
JBrowse link
G LBP lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349936 NCBI chr20:34,670,128...34,703,046
Ensembl chr20:35,780,768...35,813,188
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 chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
JBrowse link
G LIPG lipase G, endothelial type ISO RGD PMID:16354105 RGD:1580865 NCBI chr18:42,942,132...42,972,112
Ensembl chr18:46,292,154...46,320,652
JBrowse link
G LMNA lamin A/C ISO DNA:SNP: :c.138747C>T (human) RGD PMID:15205219 RGD:2306121 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G LOC100986914 cytochrome b-245 light chain ISO RGD PMID:16741160 RGD:2317864 NCBI chr16:69,356,396...69,364,225 JBrowse link
G LOC100995326 serotransferrin susceptibility ISO protein:increased expression:serum RGD PMID:17416791 RGD:1601514 NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476
JBrowse link
G LRP6 LDL receptor related protein 6 ISO DNA:missense mutation:cds RGD PMID:17332414 RGD:2298725 NCBI chr12:12,121,411...12,288,590
Ensembl chr12:12,508,108...12,657,973
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 4:3,663,649...3,683,450
Ensembl chr 4:3,646,179...3,666,098
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 7:98,227,071...98,262,254 JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448, PMID:17389588 NCBI chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474
JBrowse link
G NGF nerve growth factor ISO RGD PMID:11935372 RGD:1580935 NCBI chr 1:87,223,597...87,276,759 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 chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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:90,046,023...90,076,968
Ensembl chr  X:100,182,398...100,215,192
JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr 3:116,901,579...116,940,366
Ensembl chr 3:123,815,135...123,853,129
JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr 1:136,642,126...136,651,074
Ensembl chr 1:140,553,951...140,562,799
JBrowse link
G PLA2G4A phospholipase A2 group IVA ISO mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 1:162,362,600...162,521,974
Ensembl chr 1:166,512,870...166,672,101
JBrowse link
G PLA2G6 phospholipase A2 group VI ISO mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr22:18,998,060...19,094,507
Ensembl chr22:36,849,794...36,919,509
Ensembl chr22:36,849,794...36,919,509
JBrowse link
G PLA2G7 phospholipase A2 group VII ISO mRNA:increased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212
JBrowse link
G PLAT plasminogen activator, tissue type ISO protein:increased expression:serum RGD PMID:18249307 RGD:2311664 NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779
JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism
protein:decreased activity:serum
CTD
RGD
PMID:14602783, PMID:21573798 RGD:1642618 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
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 chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:decreased expression:gastrocnemius muscle (rat) RGD PMID:20383225 RGD:10059661 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
JBrowse link
G PRL prolactin ISO RGD PMID:16303834 RGD:1642558 NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:liver RGD PMID:17883899 RGD:1642586 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G RETN resistin ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-420C>G (human)
CTD
RGD
PMID:17598818, PMID:18328350 RGD:7207155 NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909
JBrowse link
G SELP selectin P ISO RGD PMID:19061719 RGD:2312292 NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701
JBrowse link
G SERPINA12 serpin family A member 12 treatment ISO human protein in a mouse model RGD PMID:16030142 RGD:1547845 NCBI chr14:75,110,414...75,141,569
Ensembl chr14:94,442,931...94,473,779
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO RGD PMID:26084260 RGD:11073736 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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 chr17:7,658,831...7,664,631
Ensembl chr17:7,645,187...7,650,552
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 chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
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 chr19:16,956,000...16,993,429
Ensembl chr19:17,929,785...17,966,171
JBrowse link
G SOAT2 sterol O-acyltransferase 2 susceptibility ISO DNA:SNPs RGD PMID:14557872 RGD:1581921 NCBI chr12:35,632,018...35,653,227
Ensembl chr12:36,413,954...36,434,074
JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:28875871 RGD:26923956 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO mRNA:increased expression:left heart ventricle RGD PMID:18692559 RGD:2306739 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G THBD thrombomodulin ISO associated with Diabetic Nephropathies;protein:increased expression:plasma RGD PMID:16567841 RGD:1601641 NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:24441717 RGD:10450604 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO associated with obesity;protein:increased expression:plasma RGD PMID:17200772 RGD:1624178 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
JBrowse link
G TRIB3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18497449 NCBI chr20:583,267...605,416
Ensembl chr20:359,879...375,486
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:18718174 RGD:2313109 NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:22206010 RGD:7483588 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
G VWF von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16764036 RGD:1625709 NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12751
    disease of anatomical entity 12281
      gastrointestinal system disease 3954
        pancreas disease 775
          endocrine pancreas disease 313
            abnormality of glucagon secretion 0
            gastrin secretion abnormality 0
            hyperinsulinism + 296
            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.