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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 chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419
JBrowse link
G LOC608055 D-3-phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY ClinVar NCBI chr17:57,385,063...57,410,439 JBrowse link
abdominal obesity-metabolic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
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 chr26:8,148,181...8,209,392
Ensembl chr26:8,148,236...8,209,388
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chr18:48,087,447...48,094,497 JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:30172001 RGD:13792561 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G LPL lipoprotein lipase treatment ISO RGD PMID:26996629 RGD:13794382 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
JBrowse link
G MTTP microsomal triglyceride transfer protein ISO OMIM NCBI chr32:21,582,368...21,626,806
Ensembl chr32:21,570,801...21,628,624
JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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 2:72,711,626...72,762,802
Ensembl chr 2:72,747,701...72,752,605
JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B ISO OMIM NCBI chr 1:113,644,191...113,652,441
Ensembl chr 1:113,644,100...113,828,488
JBrowse link
Abdominal Obesity-Metabolic Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIPE lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 ClinVar PMID:25741868 NCBI chr 1:111,987,862...112,006,492
Ensembl chr 1:111,988,029...112,006,461
JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPE65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency ClinVar PMID:25741868, PMID:30576320 NCBI chr 6:76,887,399...76,911,133
Ensembl chr 6:76,887,399...76,911,131
JBrowse link
G TBX19 T-box transcription factor 19 ISO OMIM NCBI chr 7:30,198,912...30,248,410
Ensembl chr 7:30,185,850...30,365,512
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 chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117
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 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809
JBrowse link
Congenital Hyperinsulinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 ISO DNA:missense mutations, nonsense mutations, splice-site mutations:CDS:multiple
ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar Annotator: match by term: familial hyperinsulinism
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
DNA:missense mutations:exon:p.G1485E (c.4454G>A), p.D1506E (c.4518C>A), p.M1544K (c.4541T>A) (human)
DNA:mutations:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon:multiple
DNA:deletion: :p.S1387del (human)
RGD
ClinVar
CTD
PMID:7716548, PMID:8923011, PMID:9618169, PMID:9648840, PMID:9867219, PMID:10334322, PMID:10338089, PMID:10447255, PMID:10487673, PMID:10685980, PMID:10720932, PMID:10923633, PMID:11226335, PMID:11272143, PMID:11318841, PMID:11872696, PMID:11999683, PMID:12196481, PMID:12475776, PMID:12784138, PMID:12941782, PMID:14692646, PMID:14715863, PMID:14764815, PMID:15356046, PMID:15562009, PMID:15579781, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16186397, PMID:16357843, PMID:16416420, PMID:16429405, PMID:16455067, PMID:16595597, PMID:16860127, PMID:16969006, PMID:17236890, PMID:17257281, PMID:17378627, PMID:17384337, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17466004, PMID:17575084, PMID:17668386, PMID:17823772, PMID:18025408, PMID:18339976, PMID:18414213, PMID:18436707, PMID:18493152, PMID:18596924, PMID:18758683, PMID:18988933, PMID:19214942, PMID:19233137, PMID:19475716, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:20427569, PMID:20573158, PMID:20672374, PMID:20685672, PMID:20799350, PMID:20943781, PMID:21378087, PMID:21422196, PMID:21716120, PMID:21851374, PMID:21992908, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22802590, PMID:22855730, PMID:22992668, PMID:23067144, PMID:23261959, PMID:23275527, PMID:23345197, PMID:23506826, PMID:23652837, PMID:23771172, PMID:24145932, PMID:24401662, PMID:24442125, PMID:24616771, PMID:24645945, PMID:24686051, PMID:24937539, PMID:25115353, PMID:25117148, PMID:25201519, PMID:25306193, PMID:25323548, PMID:25741868, PMID:25781672, PMID:25972930, PMID:26180531, PMID:26467025, PMID:27175728, PMID:27188453, PMID:27573238, PMID:27682711, PMID:27754802, PMID:27810688, PMID:28442472, PMID:28492532, PMID:29681852, PMID:30352420, PMID:30462810 RGD:11067821, RGD:11069847, RGD:11070657, RGD:12743628, RGD:12790587, RGD:12790596, RGD:12790723, RGD:704365 NCBI chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981
JBrowse link
G GCK glucokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15277402
G GLUD1 glutamate dehydrogenase 1 ISO DNA:missense mutations: : RGD PMID:9571255 RGD:1302513 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO DNA:deletion:cds (human) RGD PMID:14693719 RGD:2306664 NCBI chr32:28,460,445...28,506,141
Ensembl chr32:28,460,193...28,531,280
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 chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO DNA:deletion, insertion:exon
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
DNA:SNPs:exon:c.151G>T, c.1017G>T (human)
DNA:deletion, frameshift mutation, missense mutations:exon:multiple
DNA:missense mutations, frameshift mutations:CDS:multiple
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.R34H (c.101G>A) (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 chr21:39,953,461...39,957,615
Ensembl chr21:39,955,551...39,956,723
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 chr38:3,006,639...3,382,234
Ensembl chr38:3,006,140...3,380,218
JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr22:29,109,079...29,175,357
Ensembl chr22:29,110,201...29,290,154
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 chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981
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 chr21:39,953,461...39,957,615
Ensembl chr21:39,955,551...39,956,723
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 chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO OMIM NCBI chr21:39,953,461...39,957,615
Ensembl chr21:39,955,551...39,956,723
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
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 chr32:28,460,445...28,506,141
Ensembl chr32:28,460,193...28,531,280
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 chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
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 chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
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 chr 4:34,629,046...34,662,711 JBrowse link
G SHLD2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 4:34,665,111...34,740,645
Ensembl chr 4:34,688,245...34,763,705
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 chr17:62,636,600...62,690,491
Ensembl chr17:62,622,902...62,787,481
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 chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981
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 chr21:39,953,461...39,957,615
Ensembl chr21:39,955,551...39,956,723
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 chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981
JBrowse link
G ADCYAP1 adenylate cyclase activating polypeptide 1 ISO RGD PMID:14742740 RGD:2325255 NCBI chr 7:67,682,421...67,691,035 JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:16414018 RGD:1599145 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G ADIPOR1 adiponectin receptor 1 ISO mRNA:decreased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr 7:240,035...254,287
Ensembl chr 7:240,065...282,845
JBrowse link
G ADIPOR2 adiponectin receptor 2 ISO mRNA:increased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr27:43,739,269...43,840,116
Ensembl chr27:43,741,679...43,878,467
JBrowse link
G ADM adrenomedullin ISO associated with Obesity;protein:increased expression:plasma RGD PMID:15789277 RGD:1625301 NCBI chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495
JBrowse link
G ADRA1B adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480 RGD:1625772 NCBI chr 4:50,676,816...50,724,999
Ensembl chr 4:50,677,255...50,724,999
JBrowse link
G ADRB3 adrenoceptor beta 3 ISO associated with Obesity;mRNA:decreased expression:epidydimis, white fat RGD PMID:11014217 RGD:2313165 NCBI chr16:27,445,601...27,446,796
Ensembl chr16:27,445,601...27,447,521
JBrowse link
G AGT angiotensinogen ISO associated with obesity;DNA:polymorphism: :p.M235T RGD PMID:16713443 RGD:1601142 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:16565309 RGD:1642975 NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
JBrowse link
G BRD2 bromodomain containing 2 ISO RGD PMID:19883376 RGD:9586446 NCBI chr12:2,534,034...2,546,029
Ensembl chr12:2,534,034...2,546,029
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:aorta (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17180354, PMID:29035695 RGD:8549642 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CD163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106
JBrowse link
G CD40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 5:32,500,899...32,503,355
Ensembl chr 5:32,501,380...32,503,183
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
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 7:25,378,705...25,406,975
Ensembl chr 7:25,378,705...25,406,947
JBrowse link
G DDC dopa decarboxylase ISO protein:increased expression:pancreatic beta cell (human) RGD PMID:16403819 RGD:5129140 NCBI chr18:1,802,239...1,876,714
Ensembl chr18:1,803,273...1,867,616
JBrowse link
G FANCA FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
JBrowse link
G FANCC FA complementation group C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506
JBrowse link
G FBN1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
JBrowse link
G FOXA2 forkhead box A2 ISO RGD PMID:11445544 RGD:2313243 NCBI chr24:1,010,370...1,013,791
Ensembl chr24:1,010,651...1,013,072
JBrowse link
G GCG glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:3019152 NCBI chr36:7,544,637...7,554,171
Ensembl chr36:7,544,637...7,554,021
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
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chr10:68,067,817...68,125,001
Ensembl chr10:68,073,062...68,125,007
JBrowse link
G GIP gastric inhibitory polypeptide ISO protein:decreased expression:plasma (rat) RGD PMID:8059006 RGD:2312550 NCBI chr 9:25,167,938...25,174,402
Ensembl chr 9:25,167,926...25,174,575
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 chr 4:34,629,046...34,662,711 JBrowse link
G GPX1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15184668, PMID:18560803 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive ClinVar PMID:28492532 NCBI chr32:28,460,445...28,506,141
Ensembl chr32:28,460,193...28,531,280
JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19171794 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar Annotator: match by term: Hyperinsulinemia
ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency
RGD
ClinVar
PMID:9267996, PMID:9313765, PMID:9449683, PMID:10983627, PMID:15793260, PMID:16883527, PMID:16917892, PMID:16946562, PMID:17407387, PMID:17573900, PMID:18811724, PMID:20164212, PMID:22662265, PMID:22802087, PMID:24033266, PMID:24285859, PMID:25741868, PMID:25819479, PMID:26467025, PMID:27245055, PMID:28458902, PMID:28492532, PMID:28693455, PMID:29998026 RGD:12904698 NCBI chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916
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 chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:2991050, PMID:3511099, PMID:4019786, PMID:6382002, PMID:9667398 RGD:1625121 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
JBrowse link
G INSR insulin receptor ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.P1195L (mouse)
CTD
RGD
PMID:10949030, PMID:18411068, PMID:21549686 RGD:10403034, RGD:1302523 NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
JBrowse link
G IREB2 iron responsive element binding protein 2 ISO protein:increased expression:liver (rat) RGD PMID:25385842 RGD:12903966 NCBI chr13:38,398,445...38,441,128
Ensembl chr13:38,400,591...38,441,015
JBrowse link
G IRS1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734900 NCBI chr25:39,624,554...39,687,991 JBrowse link
G ITGAM integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286
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 chr21:39,953,461...39,957,615
Ensembl chr21:39,955,551...39,956,723
JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:9826672, PMID:22948215 RGD:12904911 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
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 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
JBrowse link
G LIPC lipase C, hepatic type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat)
RGD PMID:1592086, PMID:7047662, PMID:11095452 RGD:2308794, RGD:2308800, RGD:2308844 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
JBrowse link
G LOC479668 haptoglobin-like ISO protein:increased expression:serum RGD PMID:17598972 RGD:1626335 NCBI chr 5:77,795,183...77,800,034 JBrowse link
G LTA lymphotoxin alpha ISO associated with Coronary Arteriosclerosis RGD PMID:9726033 RGD:1625034 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
JBrowse link
G MC4R melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23251400 NCBI chr 1:16,131,829...16,132,827
Ensembl chr 1:16,131,589...16,133,079
JBrowse link
G MGRN1 mahogunin ring finger 1 ISO RGD PMID:16638826 RGD:1641947 NCBI chr 6:36,716,071...36,775,893
Ensembl chr 6:36,716,343...36,769,417
JBrowse link
G MRC1 mannose receptor C-type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 2:19,090,580...19,185,943
Ensembl chr 2:19,069,120...19,185,691
JBrowse link
G MTTP microsomal triglyceride transfer protein susceptibility ISO DNA:polymorphism:promoter:-493G>T RGD PMID:11849654 RGD:1625490 NCBI chr32:21,582,368...21,626,806
Ensembl chr32:21,570,801...21,628,624
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 NCBI chr30:38,213,429...38,218,132
Ensembl chr30:38,213,250...38,218,130
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:19008412 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G NPY5R neuropeptide Y receptor Y5 ISO RGD PMID:15187000 RGD:1625494 NCBI chr15:59,600,212...59,608,576
Ensembl chr15:59,606,902...59,608,273
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 chr34:16,790,049...16,837,557
Ensembl chr34:16,781,139...16,837,545
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:46,617,522...46,691,375
Ensembl chr  X:46,613,847...46,691,038
JBrowse link
G PKLR pyruvate kinase L/R ISO mRNA:increased expression:liver RGD PMID:14766002 RGD:1625581 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755
JBrowse link
G PRKCD protein kinase C delta ISO RGD PMID:8826977 RGD:1625605 NCBI chr20:36,723,491...36,751,982
Ensembl chr20:36,723,809...36,752,191
JBrowse link
G PRKCQ protein kinase C theta ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus RGD PMID:8826977 RGD:1625605 NCBI chr 2:29,319,123...29,505,338
Ensembl chr 2:29,318,870...29,505,337
JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:ovary RGD PMID:18421022 RGD:2292519 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: therapeutic CTD PMID:28899902 NCBI chr24:36,936,469...37,010,929
Ensembl chr24:36,936,298...37,003,720
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 chr15:16,590,908...16,666,673
Ensembl chr15:16,591,308...16,666,673
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased phosphorylation:liver, skeletal muscle RGD PMID:15692808 RGD:1643026 NCBI chr 9:34,387,084...34,590,603
Ensembl chr 9:34,387,091...34,425,292
JBrowse link
G SCD stearoyl-CoA desaturase ISO associated with Obesity RGD PMID:16284748 RGD:1580005 NCBI chr28:13,112,741...13,129,129
Ensembl chr28:13,113,006...13,125,801
JBrowse link
G SHLD2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar NCBI chr 4:34,665,111...34,740,645
Ensembl chr 4:34,688,245...34,763,705
JBrowse link
G SLC16A1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar PMID:25741868 NCBI chr17:62,636,600...62,690,491
Ensembl chr17:62,622,902...62,787,481
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 chr20:45,309,094...45,341,101
Ensembl chr20:45,310,088...45,340,230
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TSC22D3 TSC22 domain family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22556341 NCBI chr  X:81,235,489...81,298,290
Ensembl chr  X:81,235,809...81,298,192
JBrowse link
G TXNIP thioredoxin interacting protein susceptibility ISO DNA:nonsense mutation RGD PMID:15047687 RGD:1642753 NCBI chr17:58,775,588...58,779,730
Ensembl chr17:58,776,871...58,779,531
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 chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981
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:88,703,551...88,708,451
Ensembl chr  X:88,705,765...88,706,853
JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISO RGD PMID:21979934 RGD:7248543 NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15454078 NCBI chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO RGD PMID:11557984 RGD:734816 NCBI chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556
JBrowse link
G CRH corticotropin releasing hormone ISO RGD PMID:12606499 RGD:704397 NCBI chr29:15,831,944...15,840,560
Ensembl chr29:15,831,944...15,834,384
JBrowse link
G EPO erythropoietin ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma RGD PMID:19211168 RGD:2313835 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
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 chr 9:20,132,973...20,143,642
Ensembl chr 9:20,132,978...20,143,642
JBrowse link
G GCK glucokinase ISO hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M RGD PMID:9435328 RGD:1601294
G GLUD1 glutamate dehydrogenase 1 ISO familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A RGD PMID:10636977 RGD:1601353 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO mRNA, protein:increased expression:cerebellum (rat) RGD PMID:20056114 RGD:4107025 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680
JBrowse link
G GSR glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
JBrowse link
G HDAC8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Hypoglycaemia ClinVar PMID:30311386 NCBI chr  X:56,357,205...56,574,443
Ensembl chr  X:56,357,177...56,574,401
JBrowse link
G HNF1A HNF1 homeobox A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787664 NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790
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 chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916
JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3185662 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO RGD PMID:11343120 RGD:737755 NCBI chr21:25,900,308...25,914,527
Ensembl chr21:25,900,900...25,915,577
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 chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Hypoglycemia ClinVar PMID:25741868 NCBI chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO RGD PMID:9988280 RGD:737788 NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970
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 chr 9:22,808,505...22,810,587
Ensembl chr 9:22,808,601...22,810,551
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16777972 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
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 chr14:53,169,836...53,216,817
Ensembl chr14:53,170,954...53,217,169
JBrowse link
G PRL prolactin ISO associated with Hypertension RGD PMID:16617309 RGD:1642557 NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
JBrowse link
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17659342 NCBI chr 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G TH tyrosine hydroxylase ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat) RGD PMID:16396986 RGD:5130724 NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8774068 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G UCP3 uncoupling protein 3 ISO RGD PMID:10935638 RGD:737762 NCBI chr21:24,272,522...24,290,304
Ensembl chr21:24,277,896...24,288,639
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 chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981
JBrowse link
Hypoinsulinemic Hypoglycemia with Hemihypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT2 AKT serine/threonine kinase 2 ISO OMIM NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131
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 chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892
JBrowse link
G ACACB acetyl-CoA carboxylase beta ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16485039, PMID:22658938 RGD:1625727 NCBI chr26:17,763,531...17,895,319
Ensembl chr26:17,747,362...17,894,400
JBrowse link
G ACP1 acid phosphatase 1 ISO associated with Obesity RGD PMID:17353188 RGD:2313180 NCBI chr17:243,757...251,151
Ensembl chr17:243,713...250,758
JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:16788709 RGD:1625735 NCBI chr16:45,735,675...45,806,235
Ensembl chr16:45,735,703...45,804,970
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing treatment ISO CTD Direct Evidence: therapeutic
associated with Hypertension
RGD
CTD
PMID:16041833, PMID:18931039, PMID:21484566, PMID:21872431, PMID:23089228 RGD:1599150, RGD:8695928, RGD:8695951 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
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 7:240,035...254,287
Ensembl chr 7:240,065...282,845
JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment ISO RGD PMID:24797033, PMID:30225267 RGD:21406435, RGD:25824940 NCBI chr27:43,739,269...43,840,116
Ensembl chr27:43,741,679...43,878,467
JBrowse link
G ADORA1 adenosine A1 receptor treatment ISO associated with Obesity RGD PMID:11703426, PMID:15220221 RGD:1625243, RGD:2313807 NCBI chr 7:44,819...74,217
Ensembl chr 7:44,820...73,051
JBrowse link
G ADRA1B adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480 RGD:1625772 NCBI chr 4:50,676,816...50,724,999
Ensembl chr 4:50,677,255...50,724,999
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :p.R16G
RGD
CTD
PMID:11510954, PMID:15699455, PMID:19034036 RGD:1598757, RGD:1601125 NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
JBrowse link
G ADRB3 adrenoceptor beta 3 no_association ISO DNA:missense mutation:cds:p.W64R rs4994 (human)
associated with Obesity;DNA:polymorphism: :p.W64R (human)
RGD PMID:10421225, PMID:10582543, PMID:17299491 RGD:1559326, RGD:2313158, RGD:5684421 NCBI chr16:27,445,601...27,446,796
Ensembl chr16:27,445,601...27,447,521
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:88,703,551...88,708,451
Ensembl chr  X:88,705,765...88,706,853
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25734695 NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444
JBrowse link
G AHSG alpha 2-HS glycoprotein susceptibility ISO protein:increased expression:plasma RGD PMID:16567827, PMID:17011519 RGD:1625793, RGD:1625794 NCBI chr34:19,221,034...19,228,866
Ensembl chr34:19,221,107...19,228,716
JBrowse link
G AKT2 AKT serine/threonine kinase 2 no_association ISO DNA:SNPs RGD PMID:17327441 RGD:1601155 NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member treatment ISO protein:altered expression, altered activity:liver (rat) RGD PMID:28688179 RGD:14981582 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:19787041 RGD:5509625 NCBI chr 5:31,883,544...31,891,357
Ensembl chr 5:31,882,501...32,038,119
JBrowse link
G APLN apelin ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chr  X:100,863,360...100,873,105 JBrowse link
G APOA2 apolipoprotein A2 ISO RGD PMID:11246886 RGD:2313957 NCBI chr38:21,263,641...21,265,887
Ensembl chr38:21,262,789...21,265,887
JBrowse link
G APOC1 apolipoprotein C1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11723061 RGD:2313951 NCBI chr 1:110,520,177...110,522,563
Ensembl chr 1:110,520,198...110,631,412
JBrowse link
G APOC3 apolipoprotein C3 treatment
susceptibility
ISO RGD PMID:15007394, PMID:15734841 RGD:1580750, RGD:1601226 NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992
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 chr24:34,713,390...34,731,461
NCBI chr  X:51,969,785...52,167,450
Ensembl chr  X:51,969,785...52,151,912
JBrowse link
G ARG1 arginase 1 ISO protein:decreased activity:liver (rat) RGD PMID:20593143 RGD:4142796 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ATM ATM serine/threonine kinase ISO protein:decreased expression:muscle: RGD PMID:18534819 RGD:8693659 NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
G ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 ISO mRNA:increased expression:skeletal muscle RGD PMID:14576983 RGD:1601252 NCBI chr38:22,023,176...22,080,656
Ensembl chr38:22,023,221...22,080,604
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 chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405
JBrowse link
G BCHE butyrylcholinesterase ISO RGD PMID:17917325 RGD:2306776 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
JBrowse link
G BDKRB1 bradykinin receptor B1 ISO RGD PMID:17618300, PMID:17988733 RGD:5129214, RGD:5129217 NCBI chr 8:65,017,655...65,028,899 JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO RGD PMID:25934999 RGD:11085488 NCBI chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119
JBrowse link
G C1R complement C1r ISO protein:increased expression:adipocyte RGD PMID:17244723 RGD:1600551 NCBI chr27:37,951,137...37,960,687
Ensembl chr27:37,950,246...37,960,557
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18615583 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G CAPN10 calpain 10 ISO DNA:SNP:intron:rs3792267 (human) RGD PMID:11018080 RGD:7247736 NCBI chr25:50,555,402...50,566,132
Ensembl chr25:50,555,425...50,566,135
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:29748970 RGD:13782289 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
JBrowse link
G CASP8 caspase 8 ISO RGD PMID:29748970 RGD:13782289 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
JBrowse link
G CAT catalase ISO associated with Obesity RGD PMID:19188683 RGD:5130761 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G CBLB Cbl proto-oncogene B ISO RGD PMID:17601987 RGD:2314038 NCBI chr33:11,255,453...11,665,755
Ensembl chr33:11,199,863...11,530,810
JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility ISO associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18762729, PMID:22983634, PMID:29035695 RGD:2306985, RGD:8548844 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CD163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106
JBrowse link
G CD36 CD36 molecule ISO CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Type 2
CTD
RGD
PMID:11175782, PMID:12923231, PMID:14640889, PMID:15231693, PMID:25477422 RGD:11040926, RGD:11041132, RGD:2307217, RGD:68930 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639
JBrowse link
G CD40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 5:32,500,899...32,503,355
Ensembl chr 5:32,501,380...32,503,183
JBrowse link
G CNR1 cannabinoid receptor 1 ISO associated with Obesity RGD PMID:19553924 RGD:2314662 NCBI chr12:47,537,240...47,560,723
Ensembl chr12:47,509,583...47,560,983
JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr32:7,143,476...7,162,765
Ensembl chr32:7,139,126...7,162,764
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 chr22:5,074,805...5,126,635
Ensembl chr22:5,074,816...5,126,170
JBrowse link
G CPE carboxypeptidase E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15358678 NCBI chr15:61,321,588...61,422,608
Ensembl chr15:61,321,227...61,414,789
JBrowse link
G CTF1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chr 6:17,299,561...17,303,095
Ensembl chr 6:17,299,561...17,303,095
JBrowse link
G DIO2 iodothyronine deiodinase 2 ISO DNA:SNP: :rs225014, p.T92A (human) RGD PMID:11872697 RGD:2313698 NCBI chr 8:52,686,211...52,695,226
Ensembl chr 8:52,686,211...52,695,226
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 4:37,550,454...37,554,641
Ensembl chr 4:37,549,708...37,553,287
JBrowse link
G ECH1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chr 1:114,281,754...114,291,211 JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22238402 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO DNA:polymorphism:K121Q
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
RGD
ClinVar
PMID:10480624, PMID:11739459, PMID:14671192, PMID:14988267, PMID:15001634, PMID:15126519, PMID:16025115, PMID:16607460, PMID:16968801 RGD:1601043 NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718
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 chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024
JBrowse link
G FABP2 fatty acid binding protein 2 no_association ISO DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups
DNA:SNP:CDS:p.A54T (human)
DNA:polymorphism:CDS:p.A54T (human)
DNA:polymorphism:CDS:amino acid A54T, in healthy, moderately overweight subjects in Baton Rouge
RGD PMID:7883976, PMID:14981227, PMID:16311100, PMID:17211557 RGD:1300314, RGD:1578456, RGD:1626400, RGD:1626407 NCBI chr32:38,244,065...38,248,093 JBrowse link
G FABP3 fatty acid binding protein 3 severity ISO RGD PMID:16249436 RGD:1578459 NCBI chr 2:69,651,140...69,659,082
Ensembl chr 2:69,650,322...69,658,443
JBrowse link
G FABP4 fatty acid binding protein 4 ISO RGD PMID:17391165 RGD:1625407 NCBI chr29:28,651,550...28,656,255
Ensembl chr29:28,652,146...28,656,228
JBrowse link
G FANCA FA complementation group A ISO RGD PMID:22482891 RGD:11046266 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
JBrowse link
G FANCC FA complementation group C ISO RGD PMID:22482891 RGD:11046266 NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506
JBrowse link
G FAS Fas cell surface death receptor treatment ISO associated with hypothalamic disease RGD PMID:29522769 RGD:13792596 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FGF19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr18:48,464,931...48,469,967
Ensembl chr18:48,464,928...48,469,782
JBrowse link
G FIS1 fission, mitochondrial 1 ISO protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr 6:8,642,014...8,645,812
Ensembl chr 6:8,642,039...8,648,851
JBrowse link
G FOXC2 forkhead box C2 ISO DNA:polymorphism:5'ut:-512C>T RGD PMID:12453913 RGD:1601219 NCBI chr 5:66,234,336...66,296,007
Ensembl chr 5:66,294,176...66,295,693
JBrowse link
G FOXO1 forkhead box O1 ISO mRNA:increased expression:adipose tissue: RGD PMID:16041833 RGD:1599150 NCBI chr25:603,433...706,961
Ensembl chr25:603,543...702,825
JBrowse link
G FXN frataxin ISO DNA:repeats:intron:GAA (human) RGD PMID:10969848 RGD:2307049 NCBI chr 1:88,288,566...88,311,228
Ensembl chr 1:88,288,566...88,311,228
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO associated with Obesity;protein:increased expression:pancreas RGD PMID:23015612 RGD:10449129 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G GCK glucokinase ISO protein:increased expression:pancreatic islet RGD PMID:19039094 RGD:7488970
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chr10:68,067,817...68,125,001
Ensembl chr10:68,073,062...68,125,007
JBrowse link
G GNAS GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:17062894 NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657
JBrowse link
G GNB3 G protein subunit beta 3 ISO DNA:polymorphism: :825C>T (human) RGD PMID:12624279 RGD:1580411 NCBI chr27:38,175,928...38,182,473
Ensembl chr27:38,175,931...38,181,763
JBrowse link
G GPX3 glutathione peroxidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270708 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO RGD PMID:15994203 RGD:1625791 NCBI chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428
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 chr12:20,426,724...20,443,200
Ensembl chr12:20,426,726...20,443,200
JBrowse link
G GYS1 glycogen synthase 1 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human) RGD PMID:9267990 RGD:2313176 NCBI chr 1:107,401,056...107,417,273
Ensembl chr 1:107,401,114...107,417,122
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:17350134 RGD:1601515 NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619
JBrowse link
G HMGA1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr12:3,528,818...3,538,533
Ensembl chr12:3,533,102...3,538,533
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 chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
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 chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21786805 NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:18948349 RGD:10402862 NCBI chr37:7,010,421...7,025,912 JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO associated with Peripheral Vascular Diseases RGD PMID:17062970 RGD:1624367 NCBI chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037
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 chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17726072 NCBI chr 6:39,115,744...39,118,831
Ensembl chr 6:39,114,315...39,119,652
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 chr37:23,553,227...23,569,321
Ensembl chr37:23,559,501...23,569,312
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO RGD PMID:17237715 RGD:2313762 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 ISO human transgene overexpressed in mouse brain RGD PMID:15889232 RGD:2301717 NCBI chr27:2,063,548...2,067,366
Ensembl chr27:1,989,772...2,067,298
JBrowse link
G IGFBP7 insulin like growth factor binding protein 7 ISO protein:increased expression:serum RGD PMID:16873698 RGD:1626516 NCBI chr13:49,138,406...49,207,235
Ensembl chr13:49,138,402...49,207,394
JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11533494, PMID:19073766, PMID:29036520 RGD:10045961, RGD:7495768 NCBI chr16:23,359,551...23,419,114
Ensembl chr16:23,359,813...23,419,075
JBrowse link
G IL18 interleukin 18 treatment ISO associated with Graves Disease RGD PMID:16732281, PMID:23257837 RGD:14695532, RGD:8655938 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL1B interleukin 1 beta treatment ISO associated with hypothalamic disease
associated with Obesity;mRNA:increased expression:adipose tissue
RGD PMID:16865359, PMID:29522769 RGD:13792596, RGD:1626632 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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 chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G IL6R interleukin 6 receptor ISO protein:decreased expression:serum RGD PMID:14962155 RGD:1625431 NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090
JBrowse link
G IL7 interleukin 7 ISO CTD Direct Evidence: therapeutic CTD PMID:20376352 NCBI chr29:26,384,493...26,422,586
Ensembl chr29:26,384,493...26,422,737
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 chr21:25,900,308...25,914,527
Ensembl chr21:25,900,900...25,915,577
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:3322910, PMID:11522680, PMID:24648896, PMID:25796170 RGD:2311112 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
JBrowse link
G INSR insulin receptor disease_progression
treatment
ISO mRNA, protein:decreased expression:liver (rat)
ClinVar Annotator: match by term: Insulin resistance
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 chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
JBrowse link
G IRS1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
DNA:polymorphism:exon:G972R
CTD
ClinVar
RGD
PMID:1311924, PMID:7623569, PMID:8104271, PMID:8647950, PMID:10084586, PMID:10430617, PMID:10591678, PMID:10843189, PMID:12843189, PMID:14671192, PMID:14707024, PMID:15240653, PMID:19734900 RGD:1624973 NCBI chr25:39,624,554...39,687,991 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 chr22:58,197,016...58,229,026
Ensembl chr22:58,223,387...58,227,535
JBrowse link
G ITGAM integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032110 NCBI chr21:39,953,461...39,957,615
Ensembl chr21:39,955,551...39,956,723
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 4:41,536,841...41,545,523
Ensembl chr 4:41,537,225...41,545,344
JBrowse link
G KLF11 Kruppel like factor 11 ISO RGD PMID:18505768 RGD:2311539 NCBI chr17:7,038,282...7,049,880
Ensembl chr17:7,010,313...7,049,426
JBrowse link
G KLF14 Kruppel like factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29632379 NCBI chr14:6,289,163...6,292,459
Ensembl chr14:6,289,163...6,290,110
JBrowse link
G KLK1 kallikrein 1 ISO RGD PMID:17272402 RGD:1641794 NCBI chr 1:106,009,125...106,028,331
Ensembl chr 1:105,963,564...106,028,331
JBrowse link
G LEP leptin ISO associated with Obesity
CTD Direct Evidence: marker/mechanism|therapeutic
protein:increased expression:plasma
DNA:nonsense mutation:cds:
RGD
CTD
PMID:10753628, PMID:11342529, PMID:19296906, PMID:19419916, PMID:23800849, PMID:24150608 RGD:2311127, RGD:5128697, RGD:8549777 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
JBrowse link
G LEPR leptin receptor ISO associated with Obesity;DNA:polymorphism: :p.K656N (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K656N (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18413223, PMID:18632178, PMID:19452630, PMID:20567778, PMID:23154293, PMID:25367288, PMID:28611668, PMID:29988851, PMID:30689673 RGD:13432147, RGD:2311138, RGD:2311142 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
JBrowse link
G LIPC lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:15504970 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
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 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G LOC100856420 ankyrin repeat domain-containing protein 26-like ISO RGD PMID:18162531 RGD:9681744 NCBI chr 2:6,703,880...6,765,327 JBrowse link
G LOC477072 serotransferrin ISO protein:increased expression:plasma RGD PMID:17350134 RGD:1601515 NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845
JBrowse link
G LOC607874 cystatin-C-like ISO associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) RGD PMID:19765773 RGD:2314305 NCBI chr23:49,562...53,618 JBrowse link
G LPIN1 lipin 1 ISO RGD PMID:17563064 RGD:1641822 NCBI chr17:8,348,860...8,480,447
Ensembl chr17:8,348,886...8,478,863
JBrowse link
G LPL lipoprotein lipase ISO RGD PMID:18952837 RGD:2313300 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
JBrowse link
G LTA lymphotoxin alpha no_association ISO DNA:polymorphism RGD PMID:9245742 RGD:1625035 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO associated with polycystic ovary syndrome RGD PMID:23349861 RGD:13800789 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425
JBrowse link
G MC4R melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18454146 NCBI chr 1:16,131,829...16,132,827
Ensembl chr 1:16,131,589...16,133,079
JBrowse link
G METRNL meteorin like, glial cell differentiation regulator ISO CTD Direct Evidence: therapeutic CTD PMID:30213948
G MFN2 mitofusin 2 treatment ISO RGD PMID:24715199 RGD:13204838 NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225
JBrowse link
G MIR125A microRNA mir-125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr 1:105,400,273...105,400,332
Ensembl chr 1:105,400,270...105,400,337
JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:serum RGD PMID:27711113, PMID:29479888 RGD:24922220, RGD:25671464 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
JBrowse link
G MRC1 mannose receptor C-type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 2:19,090,580...19,185,943
Ensembl chr 2:19,069,120...19,185,691
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase ISO associated with Polycystic Ovary Syndrome;protein:increased expression:serum RGD PMID:17582143 RGD:1642341 NCBI chr18:14,110,045...14,211,268
Ensembl chr18:13,993,022...14,208,657
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr30:38,213,429...38,218,132
Ensembl chr30:38,213,250...38,218,130
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO associated with obesity; protein:decreased expression:hepatocyte: RGD PMID:32102936 RGD:21201281 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
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 chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic
protein:decreased expression:serum
RGD
CTD
PMID:11457755, PMID:12716763, PMID:12947532, PMID:18298918, PMID:19008412, PMID:28946194 RGD:13450950, RGD:2292098 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G NPPB natriuretic peptide B ISO associated with Obesity and Hypertension;protein:decreased expression:serum RGD PMID:17392814 RGD:1642192 NCBI chr 2:84,395,844...84,397,473 JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 susceptibility ISO RGD PMID:16557297 RGD:1625076 NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116
JBrowse link
G NR4A1 nuclear receptor subfamily 4 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chr27:2,947,729...2,965,045
Ensembl chr27:2,891,053...2,955,655
JBrowse link
G NR4A3 nuclear receptor subfamily 4 group A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chr11:56,806,506...56,846,997
Ensembl chr11:56,812,804...56,847,689
JBrowse link
G PARL presenilin associated rhomboid like ISO mRNA:decreased expression:gastrocnemius (rat) RGD PMID:19859837 RGD:12880442 NCBI chr34:16,790,049...16,837,557
Ensembl chr34:16,781,139...16,837,545
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 chr25:11,741,863...11,746,885
Ensembl chr25:11,741,863...11,746,885
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism
associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta
CTD
RGD
PMID:10426374, PMID:14714311, PMID:16332940, PMID:17283057 RGD:1625211, RGD:1625212, RGD:1625262 NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970
JBrowse link
G PKLR pyruvate kinase L/R ISO mRNA, protein:decreased expression:liver RGD PMID:12958186 RGD:1625583 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755
JBrowse link
G PLA2G1B phospholipase A2 group IB susceptibility ISO RGD PMID:12376327 RGD:1302550 NCBI chr26:16,248,417...16,257,163
Ensembl chr26:16,248,409...16,257,178
JBrowse link
G PLAC8B placenta specific 8 B ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr32:7,004,147...7,049,877
Ensembl chr32:7,007,753...7,029,140
JBrowse link
G PLEKHS1 pleckstrin homology domain containing S1 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr28:24,643,803...24,685,947
Ensembl chr28:24,644,330...24,664,807
JBrowse link
G PLIN2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chr11:38,940,063...38,959,126
Ensembl chr11:38,940,065...38,959,070
JBrowse link
G PLTP phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chr24:33,189,098...33,199,935
Ensembl chr24:33,189,099...33,199,854
JBrowse link
G PMCH pro-melanin concentrating hormone ISO RGD PMID:16002548 RGD:1642484 NCBI chr15:41,036,428...41,037,571
Ensembl chr15:41,036,428...41,037,553
JBrowse link
G PON1 paraoxonase 1 ISO DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001) RGD PMID:11788650 RGD:1642617 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:16168052, PMID:19322024, PMID:21324916 RGD:5683642 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO DNA:nonsense mutation
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:12118251, PMID:16168052, PMID:21354099, PMID:21484566 RGD:1601446 NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO DNA:missense mutation:cds:p.G482S rs8192678 (human)
mRNA:decreased expression:liver (rat)
RGD PMID:22658649, PMID:23449621 RGD:7241821, RGD:7242170 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
JBrowse link
G PPARGC1B PPARG coactivator 1 beta ISO RGD PMID:16896940 RGD:1642499 NCBI chr 4:59,167,041...59,278,977
Ensembl chr 4:59,174,604...59,279,464
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 chr14:53,169,836...53,216,817
Ensembl chr14:53,170,954...53,217,169
JBrowse link
G PRDX3 peroxiredoxin 3 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr28:29,395,593...29,403,745
Ensembl chr28:29,395,581...29,403,745
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 4:68,579,061...68,614,548
Ensembl chr 4:68,579,037...68,611,841
JBrowse link
G PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs
CTD
RGD
PMID:16567511, PMID:19934007 RGD:1625266 NCBI chr 5:52,809,792...52,855,072
Ensembl chr 5:52,815,609...52,876,609
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683
JBrowse link
G PRKCB protein kinase C beta ISO RGD PMID:12665248 RGD:1625515 NCBI chr 6:21,742,970...22,064,360
Ensembl chr 6:21,742,973...22,065,185
JBrowse link
G PRKCD protein kinase C delta ISO protein:altered localization:nucleus
associated with Obesity;protein:increased activity:adipocyte
RGD PMID:12217885, PMID:15507533 RGD:1642527, RGD:729667 NCBI chr20:36,723,491...36,751,982
Ensembl chr20:36,723,809...36,752,191
JBrowse link
G PRKCQ protein kinase C theta ISO protein:altered localization:skeletal muscle
associated with Obesity;protein:decreased expression:skeletal muscle
RGD PMID:9000691, PMID:10923637 RGD:1625603, RGD:1625604 NCBI chr 2:29,319,123...29,505,338
Ensembl chr 2:29,318,870...29,505,337
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 5:57,012,020...57,113,346
Ensembl chr 5:57,012,070...57,112,664
JBrowse link
G PRL prolactin ISO associated with Hyperprolactinemia RGD PMID:3888755 RGD:1642560 NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:increased expression, decreased acetylation:liver
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18303120, PMID:18385463 RGD:2292521 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G PTGDS prostaglandin D2 synthase susceptibility ISO RGD PMID:15970590 RGD:1642581 NCBI chr 9:48,647,334...48,650,608
Ensembl chr 9:48,646,255...48,669,814
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO associated with Obesity RGD PMID:16039993 RGD:1642605 NCBI chr25:30,137,546...30,264,221
Ensembl chr25:30,138,209...30,264,133
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 chr24:36,936,469...37,010,929
Ensembl chr24:36,936,298...37,003,720
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 chr15:16,590,908...16,666,673
Ensembl chr15:16,591,308...16,666,673
JBrowse link
G PYY peptide YY ISO protein:decreased expression RGD PMID:17045646 RGD:1625281 NCBI chr 9:19,370,520...19,386,609 JBrowse link
G RB1 RB transcriptional corepressor 1 ISO mRNA:decreased expression:adipose tissue RGD PMID:23315497 RGD:8547988 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
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 chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
JBrowse link
G RETN resistin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16493877, PMID:18789551 RGD:2313499 NCBI chr20:52,434,148...52,435,627
Ensembl chr20:52,434,271...52,435,624
JBrowse link
G RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO RGD PMID:16537411 RGD:2311703 NCBI chr 5:82,392,608...82,395,574
Ensembl chr 5:82,392,557...82,395,561
JBrowse link
G SELENOP selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:14714311 NCBI chr 4:66,953,060...66,964,162
Ensembl chr 4:66,956,405...66,959,043
JBrowse link
G SERPINA1 serpin family A member 1 ISO RGD PMID:16752182 RGD:1601202 NCBI chr 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435
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 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
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 chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
JBrowse link
G SHC1 SHC adaptor protein 1 ISO mRNA:increased expression:adipose tissue RGD PMID:17986714 RGD:1643171 NCBI chr 7:42,501,829...42,509,613
Ensembl chr 7:42,500,185...42,508,276
JBrowse link
G SI sucrase-isomaltase ISO associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine RGD PMID:9878708 RGD:1625544 NCBI chr34:30,284,869...30,373,749
Ensembl chr34:30,284,858...30,373,780
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 chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279
JBrowse link
G SIRT4 sirtuin 4 ISO RGD PMID:20651844 RGD:9586052 NCBI chr26:16,228,831...16,244,104
Ensembl chr26:16,234,710...16,240,012
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 chr20:45,309,094...45,341,101
Ensembl chr20:45,310,088...45,340,230
JBrowse link
G SLC27A4 solute carrier family 27 member 4 ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:15168018 RGD:1625638 NCBI chr 9:55,164,106...55,177,567
Ensembl chr 9:55,164,817...55,177,511
JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO mRNA,protein:decreased expression:muscle RGD PMID:11436180 RGD:1642802 NCBI chr27:37,297,932...37,309,604
Ensembl chr27:37,297,932...37,428,410
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 chr 5:32,238,095...32,244,022
Ensembl chr 5:32,238,095...32,244,021
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO associated with Diabetes Mellitus RGD PMID:15240880 RGD:1625677 NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557
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 chr 9:2,859,267...2,859,944 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22829583 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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 3:85,382,698...85,387,144
Ensembl chr 3:85,382,484...85,387,455
JBrowse link
G SORBS1 sorbin and SH3 domain containing 1 susceptibility ISO RGD PMID:17351624 RGD:1642731 NCBI chr28:8,834,530...9,063,739
Ensembl chr28:8,837,338...9,063,777
JBrowse link
G SOX6 SRY-box transcription factor 6 ISO RGD PMID:16148004 RGD:1581307 NCBI chr21:38,737,072...39,320,257
Ensembl chr21:38,737,247...39,216,549
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 susceptibility ISO associated with Fatty Liver;mRNA:increased expression:liver
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17241878, PMID:18692268, PMID:22658938 RGD:2308807, RGD:2308809 NCBI chr 5:41,663,809...41,686,764
Ensembl chr 5:41,663,773...41,686,776
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20699619 NCBI chr10:23,451,923...23,532,765
Ensembl chr10:23,452,561...23,518,689
Ensembl chr10:23,452,561...23,518,689
JBrowse link
G STK11 serine/threonine kinase 11 ISO associated with obesity;protein:decreased expression:gastrocnemius RGD PMID:16352671 RGD:1601389 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
JBrowse link
G STS steroid sulfatase ISO CTD Direct Evidence: therapeutic CTD PMID:24497646 NCBI chr  X:4,396,867...4,470,093
Ensembl chr  X:4,325,665...4,467,284
JBrowse link
G SYN1 synapsin I ISO RGD PMID:29566703 RGD:13542091 NCBI chr  X:41,191,571...41,241,557
Ensembl chr  X:41,191,571...41,241,640
JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Insulin resistance ClinVar NCBI chr22:29,109,079...29,175,357
Ensembl chr22:29,110,201...29,290,154
JBrowse link
G TCF7L2 transcription factor 7 like 2 ISO DNA:SNP (human) RGD PMID:19509102 RGD:2312433 NCBI chr28:23,966,079...24,162,775
Ensembl chr28:23,966,073...24,163,737
JBrowse link
G TFAP2B transcription factor AP-2 beta ISO RGD PMID:16373417 RGD:1601544 NCBI chr12:18,544,176...18,574,300
Ensembl chr12:18,544,446...18,572,902
JBrowse link
G THBD thrombomodulin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11453033 RGD:2312460 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
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 chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TNF tumor necrosis factor treatment ISO associated with obesity
CTD Direct Evidence: marker/mechanism
associated with Obesity
RGD
CTD
PMID:9832430, PMID:14764603, PMID:16202847, PMID:16493877, PMID:20943792, PMID:25016878 RGD:10450578, RGD:14995428, RGD:1580214, RGD:1580312 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO associated with obesity;protein:increased expression:serum RGD PMID:15936463 RGD:1620889 NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444
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 chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
G TRIB3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20461355 NCBI chr24:20,450,281...20,461,141
Ensembl chr24:20,451,001...20,457,510
JBrowse link
G TSC1 TSC complex subunit 1 ISO RGD PMID:15380067 RGD:1624197 NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677
JBrowse link
G UCP1 uncoupling protein 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human) RGD PMID:16338218 RGD:1624979 NCBI chr19:2,254,881...2,289,902 JBrowse link
G UCP2 uncoupling protein 2 ISO DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) RGD PMID:17870627 RGD:2313512 NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128
JBrowse link
G UCP3 uncoupling protein 3 ISO DNA:polymorphism:promoter:-55C>T (human) RGD PMID:17571165, PMID:17870627 RGD:2313512, RGD:2313515 NCBI chr21:24,272,522...24,290,304
Ensembl chr21:24,277,896...24,288,639
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:11882338 RGD:1580351 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
JBrowse link
G VDR vitamin D receptor ISO RGD PMID:25801026 RGD:14402022 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G VWF von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16631442 RGD:1625711 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142
JBrowse link
G XBP1 X-box binding protein 1 ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:15486293, PMID:27325692 RGD:2326004 NCBI chr26:22,162,675...22,168,149 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 chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
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 chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain treatment ISO RGD PMID:25191539 RGD:10047118 NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990
JBrowse link
G ACAT2 acetyl-CoA acetyltransferase 2 susceptibility ISO DNA:polymorphism RGD PMID:14557872 RGD:1581921 NCBI chr 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human)
associated with vascular diseases; protein:decreased expression:plasma
CTD Direct Evidence: marker/mechanism
protein:decreased expression:serum
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 chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G ADRB2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphisms: :p.R16G, p.Q27E RGD PMID:14557466 RGD:1601127 NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
JBrowse link
G AGT angiotensinogen ISO mRNA, protein:increased expression:adipose tissue RGD PMID:17260464 RGD:1601134 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G AGTR1 angiotensin II receptor type 1 susceptibility ISO DNA:snp:3' utr:c.5186A>C RGD PMID:17211857 RGD:1601146 NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
JBrowse link
G ALDOA aldolase, fructose-bisphosphate A ISO mRNA:increased expression:aorta RGD PMID:21890532 RGD:13673877 NCBI chr 6:18,077,241...18,083,053 JBrowse link
G ALPL alkaline phosphatase, biomineralization associated susceptibility ISO protein:increased expression:serum RGD PMID:16249437 RGD:1601174 NCBI chr 2:77,559,791...77,614,102
Ensembl chr 2:77,559,791...77,614,820
JBrowse link
G APOA1 apolipoprotein A1 ISO protein:decreased expression
DNA: polymorphism: :G2, G3 and G5
RGD PMID:17217166, PMID:21410987 RGD:1601183, RGD:5508220 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
JBrowse link
G APOA2 apolipoprotein A2 ISO protein:decreased expression:serum RGD PMID:19817643 RGD:2313955 NCBI chr38:21,263,641...21,265,887
Ensembl chr38:21,262,789...21,265,887
JBrowse link
G APOA5 apolipoprotein A5 susceptibility ISO DNA:polymorphism: :p.S19W (human) RGD PMID:18789138 RGD:2313315 NCBI chr 5:16,774,117...16,777,535
Ensembl chr 5:16,774,501...16,777,768
JBrowse link
G APOB apolipoprotein B ISO protein:increased expression:plasma RGD PMID:16828905 RGD:1601198 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
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 chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992
JBrowse link
G APOM apolipoprotein M ISO protein:decreased expression:plasma RGD PMID:19539616 RGD:2314236 NCBI chr12:1,137,474...1,142,337
Ensembl chr12:1,140,316...1,142,331
JBrowse link
G ATM ATM serine/threonine kinase ISO RGD PMID:17084711 RGD:1601248 NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
G ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit ISO RGD PMID:23320804 RGD:13838660 NCBI chr25:18,753,192...18,779,781
Ensembl chr25:18,753,872...18,779,831
JBrowse link
G B9D2 B9 domain containing 2 ISO mRNA:increased expression:left heart ventricle RGD PMID:18692559 RGD:2306739 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G BCHE butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15907830 RGD:1601317 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
JBrowse link
G BDNF brain derived neurotrophic factor ISO RGD PMID:11935372 RGD:1580935 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:21760737 RGD:6483594 NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791
JBrowse link
G C3 complement C3 ISO RGD PMID:16488421 RGD:2314030 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G CAPN10 calpain 10 ISO DNA:polymorphism RGD PMID:16546286 RGD:1625050 NCBI chr25:50,555,402...50,566,132
Ensembl chr25:50,555,425...50,566,135
JBrowse link
G CCK cholecystokinin ISO protein:decreased expression:plasma:associated with Obesity, Morbid (MeSH:D009767) RGD PMID:17443025 RGD:1625798 NCBI chr23:11,414,254...11,419,990
Ensembl chr23:11,414,249...11,454,198
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16188961, PMID:18486454 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:plasma (rat) RGD PMID:19905967 RGD:4889977 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
JBrowse link
G CD36 CD36 molecule ISO DNA:SNPs: :multiple (human) RGD PMID:9916795, PMID:18305138 RGD:2307208, RGD:619666 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:serum RGD PMID:16423632, PMID:20006362 RGD:2314214, RGD:5490591 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CHEK2 checkpoint kinase 2 ISO mRNA:increased expression:heart left ventricle (rat) RGD PMID:25129990 RGD:10400905 NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO DNA:polymorphism:promoter:-168A>G RGD PMID:17183695 RGD:5491201 NCBI chr 6:31,774,486...31,837,025
Ensembl chr 6:31,774,609...31,836,820
JBrowse link
G CRP C-reactive protein ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16644639, PMID:21357282 RGD:6482318 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G CYBA cytochrome b-245 alpha chain ISO RGD PMID:16741160 RGD:2317864 NCBI chr 5:64,692,865...64,701,056
Ensembl chr 5:64,692,123...64,704,893
JBrowse link
G CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 susceptibility ISO DNA:polymorphism:promoter:-344C>T (human) RGD PMID:17261471 RGD:2307294 NCBI chr13:36,866,476...36,880,625 JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:21990351 RGD:10401057 NCBI chr13:37,745,395...37,761,337
Ensembl chr13:37,741,706...37,756,916
JBrowse link
G DIO2 iodothyronine deiodinase 2 ISO DNA:polymorphism: :p.T92A (human) RGD PMID:18198294 RGD:2313696 NCBI chr 8:52,686,211...52,695,226
Ensembl chr 8:52,686,211...52,695,226
JBrowse link
G EPHX2 epoxide hydrolase 2 ISO RGD PMID:22007192 RGD:5688391 NCBI chr25:30,045,040...30,107,110
Ensembl chr25:30,045,291...30,107,110
JBrowse link
G F3 coagulation factor III, tissue factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:12417540 RGD:2313865 NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607
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 chr32:38,244,065...38,248,093 JBrowse link
G FABP4 fatty acid binding protein 4 ISO protein:increased expression:serum RGD PMID:16919044 RGD:1625406 NCBI chr29:28,651,550...28,656,255
Ensembl chr29:28,652,146...28,656,228
JBrowse link
G FADD Fas associated via death domain ISO protein:increased expression:heart left ventricle RGD PMID:23657904 RGD:11344884 NCBI chr18:48,087,447...48,094,497 JBrowse link
G FGF19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chr18:48,464,931...48,469,967
Ensembl chr18:48,464,928...48,469,782
JBrowse link
G FGF21 fibroblast growth factor 21 treatment ISO RGD PMID:25306889 RGD:10401890 NCBI chr 1:107,571,449...107,576,630
Ensembl chr 1:107,571,446...107,573,281
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:19374165, PMID:24868532 RGD:10449117, RGD:2307350 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G GCKR glucokinase regulator ISO RGD PMID:19861489 RGD:7242423 NCBI chr17:21,431,113...21,460,143
Ensembl chr17:21,434,200...21,459,935
JBrowse link
G GGT1 gamma-glutamyltransferase 1 susceptibility ISO RGD PMID:17095717, PMID:24847614 RGD:14747015, RGD:1601300 NCBI chr26:28,301,455...28,315,029 JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO associated with Kidney Diseases;protein:decreased expression:serum
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
DNA:polymorphisms
In peritoneal dialysis patients
RGD
ClinVar
PMID:11502844, PMID:12050239, PMID:12161552, PMID:16204371, PMID:18552255, PMID:18996292 RGD:1625021, RGD:2313748, RGD:7242555 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510
JBrowse link
G HDAC3 histone deacetylase 3 ISO RGD PMID:21763752 RGD:9590183 NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682
JBrowse link
G HGF hepatocyte growth factor ISO study in the Japanese population RGD PMID:15713721 RGD:1642702 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
JBrowse link
G HMGA1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr12:3,528,818...3,538,533
Ensembl chr12:3,533,102...3,538,533
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:19461650 RGD:5508692 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:22193921 RGD:10763276 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
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 chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO RGD PMID:14697232 RGD:1625074 NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897
JBrowse link
G HTR2C 5-hydroxytryptamine receptor 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632216, PMID:18515891, PMID:19142101 NCBI chr  X:87,342,800...87,641,224
Ensembl chr  X:87,342,792...87,638,579
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:19394054 RGD:2313467 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 susceptibility ISO RGD PMID:31064654 RGD:14985252 NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496
JBrowse link
G IGF2 insulin like growth factor 2 ISO DNA:insertion RGD PMID:18418699 RGD:2311520 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G IGFBP2 insulin like growth factor binding protein 2 ISO RGD PMID:16915540 RGD:1626481 NCBI chr37:23,553,227...23,569,321
Ensembl chr37:23,559,501...23,569,312
JBrowse link
G IL18 interleukin 18 treatment ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16644639, PMID:19717152, PMID:24456735 RGD:4889401, RGD:8655985 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16644639 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G IL6R interleukin 6 receptor susceptibility ISO DNA:polymorphism: :p.D358A RGD PMID:16817825 RGD:1625430 NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090
JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO DNA:SNPs: :rs2276047,snp8(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15220217 RGD:1626127 NCBI chr21:25,900,308...25,914,527
Ensembl chr21:25,900,900...25,915,577
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11274935, PMID:16259526 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
JBrowse link
G IRS1 insulin receptor substrate 1 ISO protein:decreased expression:skeletal muscle RGD PMID:10842668 RGD:6482864 NCBI chr25:39,624,554...39,687,991 JBrowse link
G ITGAV integrin subunit alpha V ISO RGD PMID:16784924 RGD:1627640 NCBI chr36:28,815,215...28,890,569
Ensembl chr36:28,804,013...28,887,430
JBrowse link
G KL klotho ISO mRNA:decreased expression:kidney: RGD PMID:11027545 RGD:10403056 NCBI chr25:7,154,359...7,201,744
Ensembl chr25:7,156,620...7,199,558
JBrowse link
G LBP lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349936 NCBI chr24:26,810,369...26,833,515
Ensembl chr24:26,809,843...26,833,434
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 chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
JBrowse link
G LIPG lipase G, endothelial type ISO RGD PMID:16354105 RGD:1580865 NCBI chr 7:79,201,514...79,221,090
Ensembl chr 7:79,201,496...79,222,552
JBrowse link
G LMNA lamin A/C ISO DNA:SNP: :c.138747C>T (human) RGD PMID:15205219 RGD:2306121 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G LOC477072 serotransferrin susceptibility ISO protein:increased expression:serum RGD PMID:17416791 RGD:1601514 NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845
JBrowse link
G LOC479668 haptoglobin-like treatment ISO protein:increased expression RGD PMID:17007284, PMID:20508159 RGD:11041859, RGD:1626341 NCBI chr 5:77,795,183...77,800,034 JBrowse link
G LOC607874 cystatin-C-like ISO protein:increased expression:serum (human) RGD PMID:19887833 RGD:2314295 NCBI chr23:49,562...53,618 JBrowse link
G LRP6 LDL receptor related protein 6 ISO DNA:missense mutation:cds RGD PMID:17332414 RGD:2298725 NCBI chr27:34,003,334...34,166,334
Ensembl chr27:34,003,539...34,161,437
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 3:60,840,804...60,852,821
Ensembl chr 3:60,840,882...60,901,258
JBrowse link
G MIR122 microRNA mir-122 ISO miRNA:increased expression:serum RGD PMID:27899485 RGD:14401601 NCBI chr 1:17,593,858...17,593,915
Ensembl chr 1:17,593,837...17,593,929
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase ISO protein:increased expression:plasma
DNA:repeats:intron
RGD PMID:15922301, PMID:17556870 RGD:1642337, RGD:1642345 NCBI chr18:14,110,045...14,211,268
Ensembl chr18:13,993,022...14,208,657
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448, PMID:17389588 NCBI chr30:38,213,429...38,218,132
Ensembl chr30:38,213,250...38,218,130
JBrowse link
G NGF nerve growth factor ISO RGD PMID:11935372 RGD:1580935 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
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 chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
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:74,784,627...74,811,796
Ensembl chr  X:74,785,168...74,811,698
JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr33:23,444,367...23,456,405
Ensembl chr33:23,432,690...23,455,347
JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chr38:21,252,874...21,257,951
Ensembl chr38:21,253,089...21,258,827
JBrowse link
G PLA2G4A phospholipase A2 group IVA ISO mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr 7:19,804,412...19,955,215
Ensembl chr 7:19,832,664...19,966,936
JBrowse link
G PLA2G6 phospholipase A2 group VI ISO mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr10:26,499,033...26,559,533
Ensembl chr10:26,509,695...26,634,087
JBrowse link
G PLA2G7 phospholipase A2 group VII ISO mRNA:increased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114
JBrowse link
G PLAT plasminogen activator, tissue type ISO protein:increased expression:serum RGD PMID:18249307 RGD:2311664 NCBI chr16:23,469,590...23,496,013 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 chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
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 chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:decreased expression:gastrocnemius muscle (rat) RGD PMID:20383225 RGD:10059661 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
JBrowse link
G PRL prolactin ISO RGD PMID:16303834 RGD:1642558 NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:liver RGD PMID:17883899 RGD:1642586 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
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 chr20:52,434,148...52,435,627
Ensembl chr20:52,434,271...52,435,624
JBrowse link
G SELP selectin P ISO RGD PMID:19061719 RGD:2312292 NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313
JBrowse link
G SERPINA12 serpin family A member 12 treatment ISO human protein in a mouse model RGD PMID:16030142 RGD:1547845 NCBI chr 8:63,497,542...63,511,701
Ensembl chr 8:63,497,849...63,512,171
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO RGD PMID:26084260 RGD:11073736 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
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 chr 5:32,535,738...32,540,627
Ensembl chr 5:32,537,138...32,540,624
JBrowse link
G SIRT1 sirtuin 1 treatment ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:hippocampus (rat)
RGD
CTD
PMID:20068143, PMID:21514307, PMID:25356430 RGD:10053569, RGD:9585758 NCBI chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279
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 chr20:45,309,094...45,341,101
Ensembl chr20:45,310,088...45,340,230
JBrowse link
G SOAT2 sterol O-acyltransferase 2 susceptibility ISO DNA:SNPs RGD PMID:14557872 RGD:1581921 NCBI chr27:2,053,063...2,062,773
Ensembl chr27:2,053,067...2,062,329
JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:28875871 RGD:26923956 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G THBD thrombomodulin ISO associated with Diabetic Nephropathies;protein:increased expression:plasma RGD PMID:16567841 RGD:1601641 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:24441717 RGD:10450604 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO associated with obesity;protein:increased expression:plasma RGD PMID:17200772 RGD:1624178 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
G TRIB3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18497449 NCBI chr24:20,450,281...20,461,141
Ensembl chr24:20,451,001...20,457,510
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:18718174 RGD:2313109 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:22206010 RGD:7483588 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G VWF von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16764036 RGD:1625709 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12678
    disease of anatomical entity 12216
      gastrointestinal system disease 4061
        pancreas disease 794
          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.