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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.


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3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO OMIM NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY ClinVar NCBI chrNW_004955435:22,757,473...22,803,123
Ensembl chrNW_004955435:22,757,454...22,803,123
JBrowse link
abdominal obesity-metabolic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15309680 NCBI chrNW_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:23320128 RGD:7241841 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435
JBrowse link
abdominal obesity-metabolic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO protein:increased oxidation:cardiac muscle cell RGD PMID:23997093 RGD:13782087 NCBI chrNW_004955482:7,233,336...7,295,754
Ensembl chrNW_004955482:7,233,336...7,295,754
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
JBrowse link
G Fadd Fas associated via death domain treatment ISO RGD PMID:27131981 RGD:13792503 NCBI chrNW_004955422:16,026,323...16,035,808
Ensembl chrNW_004955422:16,031,280...16,036,281
JBrowse link
G Fas Fas cell surface death receptor ISO RGD PMID:30172001 RGD:13792561 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
JBrowse link
G Lpl lipoprotein lipase treatment ISO RGD PMID:26996629 RGD:13794382 NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO OMIM NCBI chrNW_004955496:7,963,323...8,022,393
Ensembl chrNW_004955496:7,963,262...8,009,838
JBrowse link
G Tlr2 toll like receptor 2 susceptibility ISO RGD PMID:19841034 RGD:15090861 NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
JBrowse link
abdominal obesity-metabolic syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahdc1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 ClinVar PMID:25741868 NCBI chrNW_004955452:6,767,250...6,832,989
Ensembl chrNW_004955452:6,767,266...6,832,868
JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO OMIM NCBI chrNW_004955578:1,187,128...1,195,574
Ensembl chrNW_004955578:1,187,742...1,195,574
JBrowse link
Abdominal Obesity-Metabolic Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4 ClinVar PMID:25741868 NCBI chrNW_004955555:511,085...531,165
Ensembl chrNW_004955555:514,410...530,759
JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency ClinVar PMID:25741868, PMID:30576320 NCBI chrNW_004955423:23,184,326...23,208,206
Ensembl chrNW_004955423:23,183,937...23,208,282
JBrowse link
G Tbx19 T-box transcription factor 19 ISO OMIM NCBI chrNW_004955462:8,830,280...8,856,721
Ensembl chrNW_004955462:8,830,280...8,856,721
JBrowse link
carnitine palmitoyltransferase I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt1a carnitine palmitoyltransferase 1A ISO OMIM NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
JBrowse link
Carnitine Palmitoyltransferase II Deficiency, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO OMIM NCBI chrNW_004955464:5,942,986...5,970,325
Ensembl chrNW_004955464:5,942,986...5,970,345
JBrowse link
Congenital Hyperinsulinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
ClinVar Annotator: match by term: familial hyperinsulinism
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
DNA:missense mutations, nonsense mutations, splice-site mutations:CDS:multiple
DNA:mutations:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
DNA:deletion: :p.S1387del (human)
DNA:mutations:exon:multiple
DNA:missense mutations:exon:p.G1485E (c.4454G>A), p.D1506E (c.4518C>A), p.M1544K (c.4541T>A) (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 chrNW_004955414:32,216,243...32,289,028
Ensembl chrNW_004955414:32,216,196...32,289,053
JBrowse link
G Gck glucokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15277402 NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO DNA:missense mutations: : RGD PMID:9571255 RGD:1302513 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO DNA:deletion:cds (human) RGD PMID:14693719 RGD:2306664 NCBI chrNW_004955496:1,835,034...1,861,410
Ensembl chrNW_004955496:1,835,034...1,861,407
JBrowse link
G Hnf4a hepatocyte nuclear factor 4 alpha ISO DNA:mutations: :
ClinVar Annotator: match by term: Familial hyperinsulinism
RGD
ClinVar
PMID:10227563, PMID:10768098, PMID:10983627, PMID:15281001, PMID:15793260, PMID:15928245, PMID:16883527, PMID:16946562, PMID:18414213, PMID:20164212, PMID:21105491, PMID:22140441, PMID:22232426, PMID:23247789, PMID:24033266, PMID:24097065, PMID:25041077, PMID:25631608, PMID:25741868, PMID:26059258, PMID:26467025, PMID:26512799, PMID:26740944, PMID:27080136, PMID:27420379, PMID:28492532 RGD:12904701 NCBI chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281
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:missense mutations, frameshift mutations:CDS:multiple
DNA:deletion, frameshift mutation, missense mutations:exon:multiple
DNA:missense mutation:exon:p.R34H (c.101G>A) (human)
CTD Direct Evidence: marker/mechanism
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 chrNW_004955414:32,209,426...32,212,424
Ensembl chrNW_004955414:32,210,545...32,211,717
JBrowse link
G Kcnt2 potassium sodium-activated channel subfamily T member 2 ISO ClinVar Annotator: match by term: KCNT2-related condition ClinVar PMID:29069600 NCBI chrNW_004955406:33,080,570...33,441,342
Ensembl chrNW_004955406:33,076,426...33,441,793
JBrowse link
G Tbc1d4 TBC1 domain family member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chrNW_004955404:31,516,727...31,691,414
Ensembl chrNW_004955404:31,622,102...31,691,517
JBrowse link
familial hyperinsulinemic hypoglycemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO OMIM NCBI chrNW_004955414:32,216,243...32,289,028
Ensembl chrNW_004955414:32,216,196...32,289,053
JBrowse link
G Kcnj11 potassium inwardly rectifying channel subfamily J member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chrNW_004955414:32,209,426...32,212,424
Ensembl chrNW_004955414:32,210,545...32,211,717
JBrowse link
familial hyperinsulinemic hypoglycemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 2 ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852 NCBI chrNW_004955414:32,216,243...32,289,028
Ensembl chrNW_004955414:32,216,196...32,289,053
JBrowse link
G Kcnj11 potassium inwardly rectifying channel subfamily J member 11 ISO OMIM NCBI chrNW_004955414:32,209,426...32,212,424
Ensembl chrNW_004955414:32,210,545...32,211,717
JBrowse link
familial hyperinsulinemic hypoglycemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gck glucokinase ISO OMIM NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129
JBrowse link
familial hyperinsulinemic hypoglycemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hadh hydroxyacyl-CoA dehydrogenase ISO OMIM NCBI chrNW_004955496:1,835,034...1,861,410
Ensembl chrNW_004955496:1,835,034...1,861,407
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency ClinVar PMID:8288049, PMID:15161766, PMID:25741868, PMID:27896077 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
JBrowse link
familial hyperinsulinemic hypoglycemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO OMIM NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
JBrowse link
familial hyperinsulinemic hypoglycemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glud1 glutamate dehydrogenase 1 ISO OMIM NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955510:6,021,477...6,114,745
Ensembl chrNW_004955510:6,075,510...6,114,898
JBrowse link
familial hyperinsulinemic hypoglycemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a1 solute carrier family 16 member 1 ISO OMIM NCBI chrNW_004955435:16,334,382...16,361,737
Ensembl chrNW_004955435:16,334,793...16,342,552
JBrowse link
hyperinsulinemic hypoglycemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Islet cell hyperplasia
ClinVar Annotator: match by term: Nesidioblastosis
ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 NCBI chrNW_004955414:32,216,243...32,289,028
Ensembl chrNW_004955414:32,216,196...32,289,053
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 chrNW_004955414:32,209,426...32,212,424
Ensembl chrNW_004955414:32,210,545...32,211,717
JBrowse link
hyperinsulinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 susceptibility ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive RGD
ClinVar
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12199344, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 RGD:1598639 NCBI chrNW_004955414:32,216,243...32,289,028
Ensembl chrNW_004955414:32,216,196...32,289,053
JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO RGD PMID:14742740 RGD:2325255 NCBI chrNW_004955402:9,091,927...9,099,803
Ensembl chrNW_004955402:9,091,725...9,099,803
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:16414018 RGD:1599145 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
JBrowse link
G Adipor1 adiponectin receptor 1 ISO mRNA:decreased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chrNW_004955406:38,939,167...38,955,647
Ensembl chrNW_004955406:38,936,588...38,955,352
JBrowse link
G Adipor2 adiponectin receptor 2 ISO mRNA:increased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chrNW_004955454:4,243,898...4,327,255
Ensembl chrNW_004955454:4,243,898...4,327,308
JBrowse link
G Adm adrenomedullin ISO associated with Obesity;protein:increased expression:plasma RGD PMID:15789277 RGD:1625301 NCBI chrNW_004955414:25,951,473...25,953,593
Ensembl chrNW_004955414:25,951,349...25,953,645
JBrowse link
G Adra1b adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480 RGD:1625772 NCBI chrNW_004955408:13,883,574...13,937,798
Ensembl chrNW_004955408:13,883,574...13,937,709
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO associated with Obesity;mRNA:decreased expression:epidydimis, white fat RGD PMID:11014217 RGD:2313165 NCBI chrNW_004955463:13,663,064...13,665,553 JBrowse link
G Agt angiotensinogen ISO associated with obesity;DNA:polymorphism: :p.M235T RGD PMID:16713443 RGD:1601142 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO RGD PMID:16565309 RGD:1642975 NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255
JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:19883376 RGD:9586446 NCBI chrNW_004955437:1,584,890...1,592,486
Ensembl chrNW_004955437:1,584,479...1,592,826
JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
JBrowse link
G Cd68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004955467:9,340,490...9,343,912
Ensembl chrNW_004955467:9,341,364...9,343,836
JBrowse link
G Cdkn1c cyclin dependent kinase inhibitor 1C ISO DNA:loss of heterozygosity:pancreatic islet RGD PMID:11723059 RGD:2311334 NCBI chrNW_004955422:14,576,971...14,578,868 JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hyperinsulinemia ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chrNW_004955406:13,964,087...13,991,691
Ensembl chrNW_004955406:13,964,087...13,991,691
JBrowse link
G Ddc dopa decarboxylase ISO protein:increased expression:pancreatic beta cell (human) RGD PMID:16403819 RGD:5129140 NCBI chrNW_004955456:3,513,779...3,582,851
Ensembl chrNW_004955456:3,513,042...3,582,911
JBrowse link
G Fanca FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chrNW_004955541:3,272,936...3,320,229
Ensembl chrNW_004955541:3,273,022...3,320,052
JBrowse link
G Fancc FA complementation group C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22482891 NCBI chrNW_004955422:22,031,825...22,246,478
Ensembl chrNW_004955422:22,032,258...22,247,044
JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761
JBrowse link
G Foxa2 forkhead box A2 ISO RGD PMID:11445544 RGD:2313243 NCBI chrNW_004955415:29,982,940...29,987,093
Ensembl chrNW_004955415:29,982,940...29,986,255
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:3019152 NCBI chrNW_004955449:11,708,152...11,716,429
Ensembl chrNW_004955449:11,708,152...11,716,429
JBrowse link
G Gck glucokinase ISO hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
RGD
ClinVar
PMID:9435328 RGD:1601294 NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO mRNA:increased expression:gastrocnemius RGD PMID:16555472 RGD:1624365 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894
JBrowse link
G Gip gastric inhibitory polypeptide ISO protein:decreased expression:plasma (rat) RGD PMID:8059006 RGD:2312550 NCBI chrNW_004955451:12,390,938...12,396,599 JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9571255, PMID:10636977, PMID:20670938, PMID:25741868, PMID:26467025 RGD:1601353, RGD:6484656 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15184668, PMID:18560803 NCBI chrNW_004955532:1,298,336...1,298,830 JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive ClinVar PMID:28492532 NCBI chrNW_004955496:1,835,034...1,861,410
Ensembl chrNW_004955496:1,835,034...1,861,407
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19171794 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G Hnf4a hepatocyte nuclear factor 4 alpha ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar Annotator: match by term: Hyperinsulinemia
ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency
RGD
ClinVar
PMID:9267996, PMID:9313765, PMID:9449683, PMID:10983627, PMID:15793260, PMID:16883527, PMID:16917892, PMID:16946562, PMID:17407387, PMID:17573900, PMID:18811724, PMID:20164212, PMID:22662265, PMID:22802087, PMID:24033266, PMID:24285859, PMID:25741868, PMID:25819479, PMID:26467025, PMID:27245055, PMID:28458902, PMID:28492532, PMID:28693455, PMID:29998026 RGD:12904698 NCBI chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281
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 chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:2991050, PMID:3511099, PMID:4019786, PMID:6382002, PMID:9667398 RGD:1625121 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
JBrowse link
G Insr insulin receptor ISO DNA:missense mutation: :p.P1195L (mouse)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10949030, PMID:18411068, PMID:21549686 RGD:10403034, RGD:1302523 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO protein:increased expression:liver (rat) RGD PMID:25385842 RGD:12903966 NCBI chrNW_004955450:852,554...898,908
Ensembl chrNW_004955450:852,554...900,011
JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734900 NCBI chrNW_004955453:7,685,715...7,742,262
Ensembl chrNW_004955453:7,685,715...7,742,262
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759
JBrowse link
G Kcnj11 potassium inwardly rectifying channel subfamily J member 11 ISO protein:substitution: :p.H259R (human)
ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive
RGD
ClinVar
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:15998776, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 RGD:1625277 NCBI chrNW_004955414:32,209,426...32,212,424
Ensembl chrNW_004955414:32,210,545...32,211,717
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:9826672, PMID:22948215 RGD:12904911 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:3519326, PMID:15093691, PMID:22949526, PMID:24384915, PMID:25222487, PMID:26537785, PMID:29988851, PMID:30689673 RGD:12911216 NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407
JBrowse link
G Lipc lipase C, hepatic type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat)
RGD PMID:1592086, PMID:7047662, PMID:11095452 RGD:2308794, RGD:2308800, RGD:2308844 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766
JBrowse link
G Lta lymphotoxin alpha ISO associated with Coronary Arteriosclerosis RGD PMID:9726033 RGD:1625034 NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529
JBrowse link
G Mc4r melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23251400 NCBI chrNW_004955402:44,453,973...44,456,689
Ensembl chrNW_004955402:44,455,294...44,456,292
JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO RGD PMID:16638826 RGD:1641947 NCBI chrNW_004955442:12,780,795...12,823,716
Ensembl chrNW_004955442:12,781,539...12,824,222
JBrowse link
G Mrc1 mannose receptor C-type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004955429:10,139,398...10,232,541
Ensembl chrNW_004955429:10,139,355...10,232,600
JBrowse link
G Mttp microsomal triglyceride transfer protein susceptibility ISO DNA:polymorphism:promoter:-493G>T RGD PMID:11849654 RGD:1625490 NCBI chrNW_004955496:7,963,323...8,022,393
Ensembl chrNW_004955496:7,963,262...8,009,838
JBrowse link
G Neil1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 NCBI chrNW_004955450:2,883,344...2,889,593
Ensembl chrNW_004955450:2,883,560...2,887,736
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:19008412 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Npy5r neuropeptide Y receptor Y5 ISO RGD PMID:15187000 RGD:1625494 NCBI chrNW_004955403:41,667,632...41,675,619
Ensembl chrNW_004955403:41,667,632...41,675,619
JBrowse link
G Parl presenilin associated rhomboid like no_association ISO DNA:missense mutation:cds:p.L262V (human) RGD PMID:15729572, PMID:19185381 RGD:12880443, RGD:12880445 NCBI chrNW_004955420:23,549,125...23,581,782 JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO associated with Obesity;protein:increased expression:liver RGD PMID:9705027 RGD:2302681 NCBI chrNW_004955475:2,279,390...2,343,881
Ensembl chrNW_004955475:2,279,390...2,342,750
JBrowse link
G Pklr pyruvate kinase L/R ISO mRNA:increased expression:liver RGD PMID:14766002 RGD:1625581 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632
JBrowse link
G Prkcd protein kinase C delta ISO RGD PMID:8826977 RGD:1625605 NCBI chrNW_004955430:3,125,066...3,151,857
Ensembl chrNW_004955430:3,124,738...3,153,274
JBrowse link
G Prkcq protein kinase C theta ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus RGD PMID:8826977 RGD:1625605 NCBI chrNW_004955421:23,072,607...23,151,591
Ensembl chrNW_004955421:23,070,955...23,175,699
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:ovary RGD PMID:18421022 RGD:2292519 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Ptpn1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: therapeutic CTD PMID:28899902 NCBI chrNW_004955445:7,754,313...7,819,229
Ensembl chrNW_004955445:7,754,319...7,819,275
JBrowse link
G Ptprf protein tyrosine phosphatase receptor type F ISO protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced RGD PMID:11309481 RGD:1642735 NCBI chrNW_004955537:3,096,601...3,185,682
Ensembl chrNW_004955537:3,096,603...3,185,682
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO protein:increased phosphorylation:liver, skeletal muscle RGD PMID:15692808 RGD:1643026 NCBI chrNW_004955451:3,181,085...3,225,610 JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar NCBI chrNW_004955510:6,021,477...6,114,745
Ensembl chrNW_004955510:6,075,510...6,114,898
JBrowse link
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Hyperinsulinism, Dominant ClinVar PMID:25741868 NCBI chrNW_004955435:16,334,382...16,361,737
Ensembl chrNW_004955435:16,334,793...16,342,552
JBrowse link
G Slc27a1 solute carrier family 27 member 1 ISO protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle RGD PMID:15281014 RGD:1642794 NCBI chrNW_004955524:803,793...821,920
Ensembl chrNW_004955524:805,014...821,838
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Tsc22d3 TSC22 domain family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22556341 NCBI chrNW_004955490:8,177,356...8,238,373
Ensembl chrNW_004955490:8,177,356...8,238,373
JBrowse link
G Txnip thioredoxin interacting protein susceptibility ISO DNA:nonsense mutation RGD PMID:15047687 RGD:1642753 NCBI chrNW_004955568:103,801...107,791
Ensembl chrNW_004955568:103,762...107,785
JBrowse link
hypoglycemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO RGD PMID:18776135 RGD:2301896 NCBI chrNW_004955414:32,216,243...32,289,028
Ensembl chrNW_004955414:32,216,196...32,289,053
JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :1675G>A (human) RGD PMID:18328310 RGD:2313551 NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248
JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO RGD PMID:21979934 RGD:7248543 NCBI chrNW_004955578:950,258...1,004,438 JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15454078 NCBI chrNW_004955454:4,573,647...5,199,046
Ensembl chrNW_004955454:4,490,923...5,198,506
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO RGD PMID:11557984 RGD:734816 NCBI chrNW_004955457:7,424,403...7,490,630
Ensembl chrNW_004955457:7,431,736...7,491,149
JBrowse link
G Crh corticotropin releasing hormone ISO RGD PMID:12606499 RGD:704397 NCBI chrNW_004955444:12,989,210...12,991,300 JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma RGD PMID:19211168 RGD:2313835 NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355
JBrowse link
G G6pc glucose-6-phosphatase catalytic subunit ISO ClinVar Annotator: match by term: Hypoglycaemia ClinVar PMID:2172641, PMID:7573034, PMID:7623438, PMID:7744838, PMID:7814621, PMID:8182131, PMID:8211187, PMID:8734807, PMID:9332655, PMID:10612834, PMID:10834516, PMID:10874313, PMID:11310582, PMID:11739393, PMID:12093795, PMID:12373566, PMID:15316959, PMID:18008183, PMID:20301489, PMID:21599942, PMID:23312056, PMID:24033266, PMID:24082139, PMID:24385852, PMID:25308557, PMID:25333069, PMID:25741868, PMID:28397058, PMID:28492532, PMID:32313153 NCBI chrNW_004955451:16,672,512...16,680,001
Ensembl chrNW_004955451:16,672,979...16,680,001
JBrowse link
G Gck glucokinase ISO hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M RGD PMID:9435328 RGD:1601294 NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A RGD PMID:10636977 RGD:1601353 NCBI chrNW_004955510:5,987,811...6,021,001 JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO mRNA, protein:increased expression:cerebellum (rat) RGD PMID:20056114 RGD:4107025 NCBI chrNW_004955413:10,358,931...10,780,004
Ensembl chrNW_004955413:10,376,597...10,779,145
JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Hypoglycaemia ClinVar PMID:30311386 NCBI chrNW_004955475:11,748,502...12,012,884 JBrowse link
G Hnf1a HNF1 homeobox A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787664 NCBI chrNW_004955455:10,694,102...10,717,613
Ensembl chrNW_004955455:10,694,102...10,717,613
JBrowse link
G Hnf4a hepatocyte nuclear factor 4 alpha ISO associated with Hyperinsulinemia;DNA:frameshift mutation, nonsense mutation, splice-site mutation RGD PMID:17407387, PMID:18268044 RGD:12904698, RGD:2301837 NCBI chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281
JBrowse link
G Igf2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3185662 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Inppl1 inositol polyphosphate phosphatase like 1 ISO RGD PMID:11343120 RGD:737755 NCBI chrNW_004955414:19,146,304...19,163,923
Ensembl chrNW_004955414:19,145,432...19,163,923
JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:48835, PMID:1324617, PMID:1646414, PMID:1890151, PMID:2554359, PMID:20620209, PMID:22940631 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
JBrowse link
G LOC102021597 alpha-1-antiproteinase S-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17659342 NCBI chrNW_004955438:17,920,200...17,929,105 JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Hypoglycemia ClinVar PMID:25741868 NCBI chrNW_004955402:7,293,415...7,418,226
Ensembl chrNW_004955402:7,297,502...7,417,583
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO RGD PMID:9988280 RGD:737788 NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820
JBrowse link
G Pnmt phenylethanolamine N-methyltransferase ISO associated with Diabetes Mellitus, Experimental; mRNA:decreased expression:adrenal gland (rat) RGD PMID:15494609 RGD:5130725 NCBI chrNW_004955451:14,414,836...14,417,972
Ensembl chrNW_004955451:14,416,121...14,417,901
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16777972 NCBI chrNW_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500
JBrowse link
G Ppp1r3a protein phosphatase 1 regulatory subunit 3A ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:insertion/deletion:3' UTR (human) RGD PMID:9814479 RGD:1601469 NCBI chrNW_004955432:19,854,649...19,893,148
Ensembl chrNW_004955432:19,858,423...19,893,175
JBrowse link
G Prl prolactin ISO associated with Hypertension RGD PMID:16617309 RGD:1642557 NCBI chrNW_004955483:4,495,257...4,503,377 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620209 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Th tyrosine hydroxylase ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat) RGD PMID:16396986 RGD:5130724 NCBI chrNW_004955422:13,943,590...13,951,102
Ensembl chrNW_004955422:13,943,552...13,951,137
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8774068 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Ucp3 uncoupling protein 3 ISO RGD PMID:10935638 RGD:737762 NCBI chrNW_004955414:17,558,889...17,578,108
Ensembl chrNW_004955414:17,558,889...17,578,737
JBrowse link
Hypoglycemia, Leucine-Induced term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO OMIM NCBI chrNW_004955414:32,216,243...32,289,028
Ensembl chrNW_004955414:32,216,196...32,289,053
JBrowse link
Hypoinsulinemic Hypoglycemia with Hemihypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt2 AKT serine/threonine kinase 2 ISO OMIM NCBI chrNW_004955578:950,258...1,004,438 JBrowse link
Insulin Resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaca acetyl-CoA carboxylase alpha ISO RGD PMID:16485039 RGD:1625727 NCBI chrNW_004955451:679,033...909,892
Ensembl chrNW_004955451:600,254...909,892
JBrowse link
G Acacb acetyl-CoA carboxylase beta ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16485039, PMID:22658938 RGD:1625727 NCBI chrNW_004955455:10,282,308...10,427,439
Ensembl chrNW_004955455:10,308,192...10,426,076
JBrowse link
G Acp1 acid phosphatase 1 ISO associated with Obesity RGD PMID:17353188 RGD:2313180 NCBI chrNW_004955487:290,434...302,405 JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:16788709 RGD:1625735 NCBI chrNW_004955403:24,190,674...24,235,354
Ensembl chrNW_004955403:24,190,674...24,236,780
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment ISO CTD Direct Evidence: therapeutic
associated with Hypertension
CTD
RGD
PMID:16041833, PMID:18931039, PMID:21484566, PMID:21872431, PMID:23089228 RGD:1599150, RGD:8695928, RGD:8695951 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
JBrowse link
G Adipor1 adiponectin receptor 1 resistance ISO associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C RGD PMID:17285539 RGD:1625762 NCBI chrNW_004955406:38,939,167...38,955,647
Ensembl chrNW_004955406:38,936,588...38,955,352
JBrowse link
G Adipor2 adiponectin receptor 2 treatment ISO RGD PMID:24797033, PMID:30225267 RGD:21406435, RGD:25824940 NCBI chrNW_004955454:4,243,898...4,327,255
Ensembl chrNW_004955454:4,243,898...4,327,308
JBrowse link
G Adora1 adenosine A1 receptor treatment ISO associated with Obesity RGD PMID:11703426, PMID:15220221 RGD:1625243, RGD:2313807 NCBI chrNW_004955406:39,148,811...39,183,577
Ensembl chrNW_004955406:39,149,689...39,187,688
JBrowse link
G Adra1b adrenoceptor alpha 1B susceptibility ISO RGD PMID:14581480 RGD:1625772 NCBI chrNW_004955408:13,883,574...13,937,798
Ensembl chrNW_004955408:13,883,574...13,937,709
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphisms: :p.R16G
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11510954, PMID:15699455, PMID:19034036 RGD:1598757, RGD:1601125 NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980
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 chrNW_004955463:13,663,064...13,665,553 JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO protein:increased expression:dorsal root ganglion, neuron RGD PMID:22357959 RGD:6903873 NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25734695 NCBI chrNW_004955410:20,428,531...20,459,482 JBrowse link
G Ahsg alpha 2-HS glycoprotein susceptibility ISO protein:increased expression:plasma RGD PMID:16567827, PMID:17011519 RGD:1625793, RGD:1625794 NCBI chrNW_004955420:21,071,111...21,078,397
Ensembl chrNW_004955420:21,069,681...21,078,298
JBrowse link
G Akt2 AKT serine/threonine kinase 2 no_association ISO DNA:SNPs RGD PMID:17327441 RGD:1601155 NCBI chrNW_004955578:950,258...1,004,438 JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member treatment ISO protein:altered expression, altered activity:liver (rat) RGD PMID:28688179 RGD:14981582 NCBI chrNW_004955482:8,352,569...8,383,097 JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:19787041 RGD:5509625 NCBI chrNW_004955467:10,032,792...10,039,789 JBrowse link
G Apln apelin ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:17594060 RGD:1626170 NCBI chrNW_004955473:5,346,822...5,356,359
Ensembl chrNW_004955473:5,346,747...5,356,359
JBrowse link
G Apoa2 apolipoprotein A2 ISO RGD PMID:11246886 RGD:2313957 NCBI chrNW_004955468:12,977,956...12,979,282
Ensembl chrNW_004955468:12,977,956...12,979,753
JBrowse link
G Apoc1 apolipoprotein C1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11723061 RGD:2313951 NCBI chrNW_004955555:2,005,962...2,007,239 JBrowse link
G Apoc3 apolipoprotein C3 susceptibility
treatment
ISO RGD PMID:15007394, PMID:15734841 RGD:1580750, RGD:1601226 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015
JBrowse link
G Ar androgen receptor ISO associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16793958, PMID:17332526, PMID:21444647 RGD:1601244, RGD:2306773 NCBI chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069
JBrowse link
G Arg1 arginase 1 ISO protein:decreased activity:liver (rat) RGD PMID:20593143 RGD:4142796 NCBI chrNW_004955436:12,235,767...12,247,817
Ensembl chrNW_004955436:12,235,767...12,251,972
JBrowse link
G Atm ATM serine/threonine kinase ISO protein:decreased expression:muscle: RGD PMID:18534819 RGD:8693659 NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO mRNA:increased expression:skeletal muscle RGD PMID:14576983 RGD:1601252 NCBI chrNW_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400
JBrowse link
G Bad BCL2 associated agonist of cell death ISO protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart RGD PMID:21385329 RGD:10053645 NCBI chrNW_004955422:20,795,585...20,809,039
Ensembl chrNW_004955422:20,795,676...20,809,245
JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:17917325 RGD:2306776 NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970
JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO RGD PMID:17618300, PMID:17988733 RGD:5129214, RGD:5129217 NCBI chrNW_004955438:16,500,219...16,505,394
Ensembl chrNW_004955438:16,500,633...16,501,691
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO RGD PMID:25934999 RGD:11085488 NCBI chrNW_004955599:505,725...514,225
Ensembl chrNW_004955599:507,501...514,151
JBrowse link
G C1r complement C1r ISO protein:increased expression:adipocyte RGD PMID:17244723 RGD:1600551 NCBI chrNW_004955413:4,652,156...4,660,897
Ensembl chrNW_004955413:4,652,308...4,660,304
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18615583 NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
JBrowse link
G Capn10 calpain 10 ISO DNA:SNP:intron:rs3792267 (human) RGD PMID:11018080 RGD:7247736 NCBI chrNW_004955542:874,083...885,085
Ensembl chrNW_004955542:874,083...885,084
JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:29748970 RGD:13782289 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Casp8 caspase 8 ISO RGD PMID:29748970 RGD:13782289 NCBI chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053
JBrowse link
G Cat catalase ISO associated with Obesity RGD PMID:19188683 RGD:5130761 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
JBrowse link
G Cblb Cbl proto-oncogene B ISO RGD PMID:17601987 RGD:2314038 NCBI chrNW_004955427:6,601,651...6,812,896
Ensembl chrNW_004955427:6,604,820...6,812,882
JBrowse link
G Cd36 CD36 molecule ISO associated with Diabetes Mellitus, Type 2
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11175782, PMID:12923231, PMID:14640889, PMID:15231693, PMID:25477422 RGD:11040926, RGD:11041132, RGD:2307217, RGD:68930 NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313
JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
JBrowse link
G Cd68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004955467:9,340,490...9,343,912
Ensembl chrNW_004955467:9,341,364...9,343,836
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO associated with Obesity RGD PMID:19553924 RGD:2314662 NCBI chrNW_004955411:15,052,151...15,077,320
Ensembl chrNW_004955411:15,052,163...15,077,320
JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chrNW_004955474:6,403,409...6,422,135 JBrowse link
G Cpb2 carboxypeptidase B2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma RGD PMID:11836301 RGD:2313645 NCBI chrNW_004955518:3,740,348...3,803,540
Ensembl chrNW_004955518:3,740,348...3,803,539
JBrowse link
G Cpe carboxypeptidase E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15358678 NCBI chrNW_004955403:39,862,893...39,971,902
Ensembl chrNW_004955403:39,862,191...39,971,902
JBrowse link
G Cst3 cystatin C ISO associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) RGD PMID:19765773 RGD:2314305 NCBI chrNW_004955415:30,507,972...30,512,109 JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21803294 NCBI chrNW_004955493:7,735,996...7,737,559 JBrowse link
G Dio2 iodothyronine deiodinase 2 ISO DNA:SNP: :rs225014, p.T92A (human) RGD PMID:11872697 RGD:2313698 NCBI chrNW_004955438:3,946,830...3,961,049
Ensembl chrNW_004955438:3,950,983...3,960,355
JBrowse link
G Drd1 dopamine receptor D1 ISO associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule RGD PMID:15798088 RGD:2302119 NCBI chrNW_004955408:28,003,229...28,006,595
Ensembl chrNW_004955408:28,003,229...28,006,595
JBrowse link
G Ech1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chrNW_004955468:686,171...692,737 JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22238402 NCBI chrNW_004955456:321,222...456,431 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 chrNW_004955436:12,416,147...12,477,214
Ensembl chrNW_004955436:12,415,737...12,480,359
JBrowse link
G F7 coagulation factor VII severity ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:9187410 RGD:2312406 NCBI chrNW_004955404:685,170...692,797
Ensembl chrNW_004955404:680,594...693,665
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:polymorphism:CDS:p.A54T (human)
DNA:SNP: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 chrNW_004955428:20,930,512...20,933,950
Ensembl chrNW_004955428:20,930,479...20,933,950
JBrowse link
G Fabp3 fatty acid binding protein 3 severity ISO RGD PMID:16249436 RGD:1578459 NCBI chrNW_004955452:9,851,182...9,858,735
Ensembl chrNW_004955452:9,846,689...9,861,971
JBrowse link
G Fabp4 fatty acid binding protein 4 ISO RGD PMID:17391165 RGD:1625407 NCBI chrNW_004955444:141,955...146,279
Ensembl chrNW_004955444:141,840...148,467
JBrowse link
G Fanca FA complementation group A ISO RGD PMID:22482891 RGD:11046266 NCBI chrNW_004955541:3,272,936...3,320,229
Ensembl chrNW_004955541:3,273,022...3,320,052
JBrowse link
G Fancc FA complementation group C ISO RGD PMID:22482891 RGD:11046266 NCBI chrNW_004955422:22,031,825...22,246,478
Ensembl chrNW_004955422:22,032,258...22,247,044
JBrowse link
G Fas Fas cell surface death receptor treatment ISO associated with hypothalamic disease RGD PMID:29522769 RGD:13792596 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
JBrowse link
G Fgf19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chrNW_004955422:16,415,880...16,419,528
Ensembl chrNW_004955422:16,415,648...16,420,515
JBrowse link
G Fis1 fission, mitochondrial 1 ISO protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chrNW_004955456:16,057,158...16,060,623
Ensembl chrNW_004955456:16,038,221...16,060,623
JBrowse link
G Foxo1 forkhead box O1 ISO mRNA:increased expression:adipose tissue: RGD PMID:16041833 RGD:1599150 NCBI chrNW_004955431:5,797,359...5,890,758 JBrowse link
G Fxn frataxin ISO DNA:repeats:intron:GAA (human) RGD PMID:10969848 RGD:2307049 NCBI chrNW_004955434:3,983,225...4,008,324
Ensembl chrNW_004955434:3,980,653...4,008,761
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO associated with Obesity;protein:increased expression:pancreas RGD PMID:23015612 RGD:10449129 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
JBrowse link
G Gck glucokinase ISO protein:increased expression:pancreatic islet RGD PMID:19039094 RGD:7488970 NCBI chrNW_004955456:7,784,269...7,838,260
Ensembl chrNW_004955456:7,783,760...7,842,129
JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO RGD PMID:11118009 RGD:1625423 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894
JBrowse link
G Gnb3 G protein subunit beta 3 ISO DNA:polymorphism: :825C>T (human) RGD PMID:12624279 RGD:1580411 NCBI chrNW_004955413:4,440,693...4,447,419
Ensembl chrNW_004955413:4,440,693...4,447,416
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270708 NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO RGD PMID:15994203 RGD:1625791 NCBI chrNW_004955422:18,173,438...18,192,357
Ensembl chrNW_004955422:18,170,616...18,192,412
JBrowse link
G Gys1 glycogen synthase 1 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human) RGD PMID:9267990 RGD:2313176 NCBI chrNW_004955559:1,674,969...1,690,098
Ensembl chrNW_004955559:1,674,969...1,690,098
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:17350134 RGD:1601515 NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649
JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chrNW_004955437:2,478,414...2,486,809
Ensembl chrNW_004955437:2,478,414...2,486,809
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:decreased expression:muscle:defective protection against oxidative stress
CTD Direct Evidence: marker/mechanism|therapeutic
RGD
CTD
PMID:12941774, PMID:18375438, PMID:19171794 RGD:1601621 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G Hnf1a HNF1 homeobox A ISO mRNA:decreased expression:adipocyte
ClinVar Annotator: match by term: Serum hdl cholesterol level, modifier of
RGD
ClinVar
PMID:8945470, PMID:9112026, PMID:9287053, PMID:9604876, PMID:10333057, PMID:10588527, PMID:10634407, PMID:10852449, PMID:12627330, PMID:12675668, PMID:12788852, PMID:15031772, PMID:15094374, PMID:15761192, PMID:15928245, PMID:16963153, PMID:17033837, PMID:17192490, PMID:17407072, PMID:17425917, PMID:17440016, PMID:17573900, PMID:17937063, PMID:18332101, PMID:18498634, PMID:18811724, PMID:24728327, PMID:25741868, PMID:26467025 RGD:1601482 NCBI chrNW_004955455:10,694,102...10,717,613
Ensembl chrNW_004955455:10,694,102...10,717,613
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21786805 NCBI chrNW_004955489:2,500,928...2,524,715
Ensembl chrNW_004955489:2,497,680...2,524,805
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:18948349 RGD:10402862 NCBI chrNW_004955403:3,062,724...3,073,419 JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO associated with Peripheral Vascular Diseases RGD PMID:17062970 RGD:1624367 NCBI chrNW_004955431:583,165...646,991
Ensembl chrNW_004955431:580,713...647,345
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum
associated with Obesity;protein:increased secretion:plasma (human)
RGD PMID:11782876, PMID:19394054 RGD:1625753, RGD:2313467 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
JBrowse link
G Igfals insulin like growth factor binding protein acid labile subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17726072 NCBI chrNW_004955442:15,469,602...15,482,115
Ensembl chrNW_004955442:15,478,202...15,482,115
JBrowse link
G Igfbp2 insulin like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:17259371, PMID:22537059 RGD:1626479 NCBI chrNW_004955453:16,556,873...16,584,737
Ensembl chrNW_004955453:16,557,194...16,584,634
JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO RGD PMID:17237715 RGD:2313762 NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845
JBrowse link
G Igfbp6 insulin like growth factor binding protein 6 ISO human transgene overexpressed in mouse brain RGD PMID:15889232 RGD:2301717 NCBI chrNW_004955458:377,929...382,109
Ensembl chrNW_004955458:377,929...382,567
JBrowse link
G Igfbp7 insulin like growth factor binding protein 7 ISO protein:increased expression:serum RGD PMID:16873698 RGD:1626516 NCBI chrNW_004955447:14,048,834...14,110,264
Ensembl chrNW_004955447:14,047,732...14,108,414
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11533494, PMID:19073766, PMID:29036520 RGD:10045961, RGD:7495768 NCBI chrNW_004955536:611,965...658,647
Ensembl chrNW_004955536:612,774...658,647
JBrowse link
G Il18 interleukin 18 treatment ISO associated with Graves Disease RGD PMID:16732281, PMID:23257837 RGD:14695532, RGD:8655938 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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 chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Il6 interleukin 6 ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat)
mRNA:increased expression:islet of Langerhans
RGD PMID:19328014, PMID:21826222 RGD:10402828, RGD:2307252 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Il6r interleukin 6 receptor ISO protein:decreased expression:serum RGD PMID:14962155 RGD:1625431 NCBI chrNW_004955545:932,814...979,359
Ensembl chrNW_004955545:950,765...981,762
JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: therapeutic CTD PMID:20376352 NCBI chrNW_004955444:2,365,077...2,400,953 JBrowse link
G Inppl1 inositol polyphosphate phosphatase like 1 ISO associated with Metabolic Syndrome X RGD PMID:12453826, PMID:17327370 RGD:2312440, RGD:2312442 NCBI chrNW_004955414:19,146,304...19,163,923
Ensembl chrNW_004955414:19,145,432...19,163,923
JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:3322910, PMID:11522680, PMID:24648896, PMID:25796170 RGD:2311112 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
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 chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
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 chrNW_004955453:7,685,715...7,742,262
Ensembl chrNW_004955453:7,685,715...7,742,262
JBrowse link
G Irs2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:G1057D
CTD
RGD
PMID:15811564, PMID:25808216 RGD:1625025 NCBI chrNW_004955404:2,531,484...2,555,383
Ensembl chrNW_004955404:2,531,484...2,555,689
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759
JBrowse link
G Kcnj11 potassium inwardly rectifying channel subfamily J member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032110 NCBI chrNW_004955414:32,209,426...32,212,424
Ensembl chrNW_004955414:32,210,545...32,211,717
JBrowse link
G Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 ISO mRNA, protein:decreased expression:aorta, mesenteric artery RGD PMID:21425425 RGD:10412047 NCBI chrNW_004955408:23,306,286...23,335,170
Ensembl chrNW_004955408:23,325,225...23,335,298
JBrowse link
G Klf11 Kruppel like factor 11 ISO RGD PMID:18505768 RGD:2311539 NCBI chrNW_004955487:5,448,869...5,454,322 JBrowse link
G Klf14 Kruppel like factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29632379 NCBI chrNW_004955410:36,891,213...36,932,136 JBrowse link
G Klk1 kallikrein 1 ISO RGD PMID:17272402 RGD:1641794 NCBI chrNW_004955559:457,030...461,086 JBrowse link
G Lep leptin ISO protein:increased expression:plasma
associated with Obesity
DNA:nonsense mutation:cds:
CTD Direct Evidence: marker/mechanism|therapeutic
RGD
CTD
PMID:10753628, PMID:11342529, PMID:19296906, PMID:19419916, PMID:23800849, PMID:24150608 RGD:2311127, RGD:5128697, RGD:8549777 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K656N (human)
associated with Obesity;DNA:polymorphism: :p.K656N (human)
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 chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407
JBrowse link
G Lipc lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:15504970 NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Insulin resistance syndrome, type A ClinVar PMID:15919811, PMID:16478798, PMID:20848652, PMID:23785128, PMID:24033266, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
G LOC102021597 alpha-1-antiproteinase S-like ISO RGD PMID:16752182 RGD:1601202 NCBI chrNW_004955438:17,920,200...17,929,105 JBrowse link
G Lpin1 lipin 1 ISO RGD PMID:17563064 RGD:1641822 NCBI chrNW_004955487:6,139,188...6,207,316
Ensembl chrNW_004955487:6,138,926...6,210,012
JBrowse link
G Lpl lipoprotein lipase ISO RGD PMID:18952837 RGD:2313300 NCBI chrNW_004955403:43,646,084...43,672,116
Ensembl chrNW_004955403:43,646,084...43,673,967
JBrowse link
G Lta lymphotoxin alpha no_association ISO DNA:polymorphism RGD PMID:9245742 RGD:1625035 NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 treatment ISO associated with polycystic ovary syndrome RGD PMID:23349861 RGD:13800789 NCBI chrNW_004955493:6,870,699...6,876,836
Ensembl chrNW_004955493:6,869,668...6,879,152
JBrowse link
G Mc4r melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18454146 NCBI chrNW_004955402:44,453,973...44,456,689
Ensembl chrNW_004955402:44,455,294...44,456,292
JBrowse link
G Metrnl meteorin like, glial cell differentiation regulator ISO CTD Direct Evidence: therapeutic CTD PMID:30213948 NCBI chrNW_004955506:133,337...146,472
Ensembl chrNW_004955506:133,337...165,317
JBrowse link
G Mfn2 mitofusin 2 treatment ISO RGD PMID:24715199 RGD:13204838 NCBI chrNW_004955486:1,937,873...1,962,577
Ensembl chrNW_004955486:1,937,802...1,962,772
JBrowse link
G Mif macrophage migration inhibitory factor ISO protein:increased expression:plasma RGD PMID:12552367 RGD:1641955 NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
JBrowse link
G Mrc1 mannose receptor C-type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chrNW_004955429:10,139,398...10,232,541
Ensembl chrNW_004955429:10,139,355...10,232,600
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO associated with Polycystic Ovary Syndrome;protein:increased expression:serum RGD PMID:17582143 RGD:1642341 NCBI chrNW_004955410:10,717,664...10,742,109
Ensembl chrNW_004955410:10,717,664...10,751,177
JBrowse link
G Neil1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chrNW_004955450:2,883,344...2,889,593
Ensembl chrNW_004955450:2,883,560...2,887,736
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2 like 2 ISO associated with obesity; protein:decreased expression:hepatocyte: RGD PMID:32102936 RGD:21201281 NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944
JBrowse link
G Nos2 nitric oxide synthase 2 ISO mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat) RGD PMID:21846719, PMID:22023455 RGD:5509041, RGD:5509075 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic
protein:decreased expression:serum
CTD
RGD
PMID:11457755, PMID:12716763, PMID:12947532, PMID:18298918, PMID:19008412, PMID:28946194 RGD:13450950, RGD:2292098 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Nppb natriuretic peptide B ISO associated with Obesity and Hypertension;protein:decreased expression:serum RGD PMID:17392814 RGD:1642192 NCBI chrNW_004955486:2,054,775...2,056,130 JBrowse link
G Nr1h4 nuclear receptor subfamily 1 group H member 4 susceptibility ISO RGD PMID:16557297 RGD:1625076 NCBI chrNW_004955405:36,160,360...36,236,258
Ensembl chrNW_004955405:36,160,049...36,237,751
JBrowse link
G Nr4a1 nuclear receptor subfamily 4 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chrNW_004955547:2,404,532...2,426,882
Ensembl chrNW_004955547:2,404,532...2,431,050
JBrowse link
G Nr4a3 nuclear receptor subfamily 4 group A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785466 NCBI chrNW_004955419:25,779,368...25,817,445
Ensembl chrNW_004955419:25,779,178...25,818,706
JBrowse link
G Parl presenilin associated rhomboid like ISO mRNA:decreased expression:gastrocnemius (rat) RGD PMID:19859837 RGD:12880442 NCBI chrNW_004955420:23,549,125...23,581,782 JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:pancreatic islet (mouse)
protein:increased expression:pancreatic duct (rat)
RGD PMID:16046294, PMID:18288891 RGD:2311222, RGD:2311223 NCBI chrNW_004955497:7,281,886...7,307,969 JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10426374, PMID:14714311, PMID:16332940, PMID:17283057 RGD:1625211, RGD:1625212, RGD:1625262 NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820
JBrowse link
G Pklr pyruvate kinase L/R ISO mRNA, protein:decreased expression:liver RGD PMID:12958186 RGD:1625583 NCBI chrNW_004955545:1,742,432...1,749,632
Ensembl chrNW_004955545:1,739,152...1,749,632
JBrowse link
G Pla2g1b phospholipase A2 group IB susceptibility ISO RGD PMID:12376327 RGD:1302550 NCBI chrNW_004955455:11,308,848...11,316,245
Ensembl chrNW_004955455:11,308,643...11,316,254
JBrowse link
G Plac8 placenta associated 8 ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chrNW_004955474:6,518,459...6,533,251
Ensembl chrNW_004955474:6,522,204...6,534,312
JBrowse link
G Plekhs1 pleckstrin homology domain containing S1 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chrNW_004955431:18,745,990...18,798,517
Ensembl chrNW_004955431:18,745,791...18,770,112
JBrowse link
G Plin2 perilipin 2 ISO associated with Obesity RGD PMID:17484887 RGD:1625752 NCBI chrNW_004955434:21,573,860...21,580,990
Ensembl chrNW_004955434:21,574,292...21,580,988
JBrowse link
G Pltp phospholipid transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12754275 NCBI chrNW_004955445:11,384,723...11,399,217
Ensembl chrNW_004955445:11,384,723...11,399,217
JBrowse link
G Pmch pro-melanin concentrating hormone ISO RGD PMID:16002548 RGD:1642484 NCBI chrNW_004955405:37,357,468...37,360,695
Ensembl chrNW_004955405:37,356,755...37,360,695
JBrowse link
G Pon1 paraoxonase 1 ISO DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001) RGD PMID:11788650 RGD:1642617 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
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 chrNW_004955413:30,306,563...30,366,245
Ensembl chrNW_004955413:30,307,219...30,359,500
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 chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387
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 chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435
JBrowse link
G Ppargc1b PPARG coactivator 1 beta ISO RGD PMID:16896940 RGD:1642499 NCBI chrNW_004955415:4,638,057...4,756,885
Ensembl chrNW_004955415:4,644,998...4,757,093
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 chrNW_004955432:19,854,649...19,893,148
Ensembl chrNW_004955432:19,858,423...19,893,175
JBrowse link
G Prdx3 peroxiredoxin 3 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chrNW_004955431:23,640,775...23,651,738
Ensembl chrNW_004955431:23,638,765...23,652,191
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO associated with Obesity
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19934007, PMID:22231922 RGD:6484545 NCBI chrNW_004955426:25,079,718...25,102,090
Ensembl chrNW_004955426:25,079,718...25,102,090
JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 susceptibility ISO DNA:SNPs
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16567511, PMID:19934007 RGD:1625266 NCBI chrNW_004955464:2,996,608...3,062,197
Ensembl chrNW_004955464:3,003,837...3,062,197
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chrNW_004955478:4,241,283...4,262,119
Ensembl chrNW_004955478:4,241,283...4,263,087
JBrowse link
G Prkcb protein kinase C beta ISO RGD PMID:12665248 RGD:1625515 NCBI chrNW_004955493:2,395,494...2,710,522
Ensembl chrNW_004955493:2,395,109...2,710,934
JBrowse link
G Prkcd protein kinase C delta ISO associated with Obesity;protein:increased activity:adipocyte
protein:altered localization:nucleus
RGD PMID:12217885, PMID:15507533 RGD:1642527, RGD:729667 NCBI chrNW_004955430:3,125,066...3,151,857
Ensembl chrNW_004955430:3,124,738...3,153,274
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 chrNW_004955421:23,072,607...23,151,591
Ensembl chrNW_004955421:23,070,955...23,175,699
JBrowse link
G Prkcz protein kinase C zeta ISO protein::skeletal muscle:reduced response to insulin in obese and diabetic subjects RGD PMID:12882908 RGD:1642650 NCBI chrNW_004955486:8,947,579...9,021,702
Ensembl chrNW_004955486:8,947,579...9,021,702
JBrowse link
G Prl prolactin ISO associated with Hyperprolactinemia RGD PMID:3888755 RGD:1642560 NCBI chrNW_004955483:4,495,257...4,503,377 JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
protein:increased expression, decreased acetylation:liver
CTD
RGD
PMID:18303120, PMID:18385463 RGD:2292521 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Ptgds prostaglandin D2 synthase susceptibility ISO RGD PMID:15970590 RGD:1642581 NCBI chrNW_004955513:5,009,530...5,012,781 JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO associated with Obesity RGD PMID:16039993 RGD:1642605 NCBI chrNW_004955403:49,856,056...49,970,800
Ensembl chrNW_004955403:49,855,541...49,973,225
JBrowse link
G Ptpn1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Insulin resistance, susceptibility to
DNA:insertion:3'utr:1484insG
CTD
ClinVar
RGD
PMID:10744717, PMID:11833006 RGD:1625240 NCBI chrNW_004955445:7,754,313...7,819,229
Ensembl chrNW_004955445:7,754,319...7,819,275
JBrowse link
G Ptprf protein tyrosine phosphatase receptor type F ISO protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05)
protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced
RGD PMID:9218523, PMID:11309481 RGD:1642733, RGD:1642735 NCBI chrNW_004955537:3,096,601...3,185,682
Ensembl chrNW_004955537:3,096,603...3,185,682
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO mRNA:decreased expression:adipose tissue RGD PMID:23315497 RGD:8547988 NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:altered localization:soleus RGD PMID:18073321, PMID:18198644 RGD:2298857, RGD:2298860 NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
JBrowse link
G Retn resistin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16493877, PMID:18789551 RGD:2313499 NCBI chrNW_004955563:1,607,814...1,609,273
Ensembl chrNW_004955563:1,607,814...1,609,273
JBrowse link
G Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO RGD PMID:16537411 RGD:2311703 NCBI chrNW_004955433:23,426,258...23,439,094
Ensembl chrNW_004955433:23,426,643...23,438,923
JBrowse link
G Selenop selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:14714311 NCBI chrNW_004955426:26,951,003...26,961,839 JBrowse link
G Serpine1 serpin family E member 1 treatment ISO mRNA:increased expression:white adipose tissue (rat) RGD PMID:19776253, PMID:26188590 RGD:11073726, RGD:8547949 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
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 chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241
JBrowse link
G Shc1 SHC adaptor protein 1 ISO mRNA:increased expression:adipose tissue RGD PMID:17986714 RGD:1643171 NCBI chrNW_004955545:1,468,391...1,479,209
Ensembl chrNW_004955545:1,468,391...1,476,814
JBrowse link
G Si sucrase-isomaltase ISO associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine RGD PMID:9878708 RGD:1625544 NCBI chrNW_004955448:14,686,315...14,777,298
Ensembl chrNW_004955448:14,685,963...14,777,338
JBrowse link
G Sirt1 sirtuin 1 treatment ISO CTD Direct Evidence: marker/mechanism|therapeutic
associated with Obesity
CTD
RGD
PMID:19996381, PMID:20068143, PMID:21321189, PMID:24442997, PMID:25849131, PMID:26026874 RGD:9585759 NCBI chrNW_004955425:20,280,725...20,307,663
Ensembl chrNW_004955425:20,279,963...20,307,663
JBrowse link
G Sirt4 sirtuin 4 ISO RGD PMID:20651844 RGD:9586052 NCBI chrNW_004955455:11,322,812...11,334,786
Ensembl chrNW_004955455:11,324,479...11,334,817
JBrowse link
G Slc27a1 solute carrier family 27 member 1 ISO protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet RGD PMID:17400720 RGD:1642795 NCBI chrNW_004955524:803,793...821,920
Ensembl chrNW_004955524:805,014...821,838
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:15168018 RGD:1625638 NCBI chrNW_004955570:853,856...866,383
Ensembl chrNW_004955570:853,849...866,383
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 chrNW_004955467:9,630,304...9,636,005
Ensembl chrNW_004955467:9,630,304...9,636,005
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO associated with Diabetes Mellitus RGD PMID:15240880 RGD:1625677 NCBI chrNW_004955442:7,321,337...7,323,109
Ensembl chrNW_004955442:7,321,337...7,323,109
JBrowse link
G Socs3 suppressor of cytokine signaling 3 susceptibility ISO associated with Obesity
associated with Diabetes Mellitus
RGD PMID:15240880, PMID:17295835 RGD:1625677, RGD:2313789 NCBI chrNW_004955506:4,222,455...4,225,563
Ensembl chrNW_004955506:4,222,455...4,225,563
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22829583 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Sod3 superoxide dismutase 3 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma RGD PMID:15171689 RGD:1625698 NCBI chrNW_004955480:257,716...263,149 JBrowse link
G Sorbs1 sorbin and SH3 domain containing 1 susceptibility ISO RGD PMID:17351624 RGD:1642731 NCBI chrNW_004955507:1,622,567...1,849,047
Ensembl chrNW_004955507:1,622,567...1,738,423
JBrowse link
G Sox6 SRY-box transcription factor 6 ISO RGD PMID:16148004 RGD:1581307 NCBI chrNW_004955414:30,965,626...31,532,473
Ensembl chrNW_004955414:30,971,920...31,335,263
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP
associated with Fatty Liver;mRNA:increased expression:liver
CTD
RGD
PMID:17241878, PMID:18692268, PMID:22658938 RGD:2308807, RGD:2308809 NCBI chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20699619 NCBI chrNW_004955413:27,271,717...27,326,655
Ensembl chrNW_004955413:27,271,953...27,326,759
JBrowse link
G Stk11 serine/threonine kinase 11 ISO associated with obesity;protein:decreased expression:gastrocnemius RGD PMID:16352671 RGD:1601389 NCBI chrNW_004955495:6,678,195...6,699,408
Ensembl chrNW_004955495:6,678,195...6,699,058
JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: therapeutic CTD PMID:24497646 NCBI chrNW_004955499:5,180,451...5,347,862
Ensembl chrNW_004955499:5,180,214...5,345,221
JBrowse link
G Syn1 synapsin I ISO RGD PMID:29566703 RGD:13542091 NCBI chrNW_004955516:460,258...521,484
Ensembl chrNW_004955516:460,198...521,484
JBrowse link
G Tbc1d4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Insulin resistance ClinVar NCBI chrNW_004955404:31,516,727...31,691,414
Ensembl chrNW_004955404:31,622,102...31,691,517
JBrowse link
G Tcf7l2 transcription factor 7 like 2 ISO DNA:SNP (human) RGD PMID:19509102 RGD:2312433 NCBI chrNW_004955431:18,020,309...18,207,926
Ensembl chrNW_004955431:18,020,409...18,209,134
JBrowse link
G Tfap2b transcription factor AP-2 beta ISO RGD PMID:16373417 RGD:1601544 NCBI chrNW_004955411:7,143,095...7,171,285
Ensembl chrNW_004955411:7,142,607...7,170,467
JBrowse link
G Thbd thrombomodulin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:11453033 RGD:2312460 NCBI chrNW_004955415:30,222,830...30,226,406 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 chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
JBrowse link
G Tnf tumor necrosis factor treatment ISO CTD Direct Evidence: marker/mechanism
associated with obesity
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 chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO associated with obesity;protein:increased expression:serum RGD PMID:15936463 RGD:1620889 NCBI chrNW_004955417:24,804,708...24,831,338
Ensembl chrNW_004955417:24,804,664...24,831,894
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression RGD PMID:11882518 RGD:1624180 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
JBrowse link
G Trib3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20461355 NCBI chrNW_004955597:259,209...265,896
Ensembl chrNW_004955597:260,790...265,326
JBrowse link
G Tsc1 TSC complex subunit 1 ISO RGD PMID:15380067 RGD:1624197 NCBI chrNW_004955513:2,197,037...2,244,992
Ensembl chrNW_004955513:2,197,037...2,244,992
JBrowse link
G Ucp1 uncoupling protein 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human) RGD PMID:16338218 RGD:1624979 NCBI chrNW_004955428:3,253,363...3,282,518
Ensembl chrNW_004955428:3,274,810...3,283,237
JBrowse link
G Ucp2 uncoupling protein 2 ISO DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) RGD PMID:17870627 RGD:2313512 NCBI chrNW_004955414:17,592,914...17,596,477
Ensembl chrNW_004955414:17,592,914...17,596,477
JBrowse link
G Ucp3 uncoupling protein 3 ISO DNA:polymorphism:promoter:-55C>T (human) RGD PMID:17571165, PMID:17870627 RGD:2313512, RGD:2313515 NCBI chrNW_004955414:17,558,889...17,578,108
Ensembl chrNW_004955414:17,558,889...17,578,737
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO RGD PMID:11882338 RGD:1580351 NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:25801026 RGD:14402022 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16631442 RGD:1625711 NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571
JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:15486293, PMID:27325692 RGD:2326004 NCBI chrNW_004955455:3,037,885...3,041,827 JBrowse link
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO OMIM NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
JBrowse link
Metabolic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 susceptibility ISO DNA:SNP:exon:p.R230C (rs9282541) (human) RGD PMID:17287470 RGD:1601092 NCBI chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619
JBrowse link
G Acadvl acyl-CoA dehydrogenase very long chain treatment ISO RGD PMID:25191539 RGD:10047118 NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
JBrowse link
G Acat2 acetyl-CoA acetyltransferase 2 susceptibility ISO DNA:polymorphism RGD PMID:14557872 RGD:1581921 NCBI chrNW_004955439:21,123,886...21,142,562
Ensembl chrNW_004955439:21,122,923...21,142,480
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with vascular diseases; protein:decreased expression:plasma
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human)
protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16793964, PMID:17618945, PMID:17893004, PMID:18162013, PMID:19690575, PMID:20833989, PMID:21625822, PMID:21976521 RGD:2313234, RGD:5686407, RGD:5686428, RGD:5686800 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphisms: :p.R16G, p.Q27E RGD PMID:14557466 RGD:1601127 NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980
JBrowse link
G Agt angiotensinogen ISO mRNA, protein:increased expression:adipose tissue RGD PMID:17260464 RGD:1601134 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
JBrowse link
G Agtr1 angiotensin II receptor type 1 susceptibility ISO DNA:snp:3' utr:c.5186A>C RGD PMID:17211857 RGD:1601146 NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated susceptibility ISO protein:increased expression:serum RGD PMID:16249437 RGD:1601174 NCBI chrNW_004955452:1,820,212...1,873,877
Ensembl chrNW_004955452:1,820,174...1,874,226
JBrowse link
G Apoa1 apolipoprotein A1 ISO DNA: polymorphism: :G2, G3 and G5
protein:decreased expression
RGD PMID:17217166, PMID:21410987 RGD:1601183, RGD:5508220 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298
JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:decreased expression:serum RGD PMID:19817643 RGD:2313955 NCBI chrNW_004955468:12,977,956...12,979,282
Ensembl chrNW_004955468:12,977,956...12,979,753
JBrowse link
G Apoa5 apolipoprotein A5 susceptibility ISO DNA:polymorphism: :p.S19W (human) RGD PMID:18789138 RGD:2313315 NCBI chrNW_004955412:18,128,861...18,131,752
Ensembl chrNW_004955412:18,129,603...18,131,115
JBrowse link
G Apob apolipoprotein B ISO protein:increased expression:plasma RGD PMID:16828905 RGD:1601198 NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
JBrowse link
G Apoc3 apolipoprotein C3 susceptibility ISO DNA:polymorphism:promoter:-482C>T, -455T>C
protein:increased expression:serum
RGD PMID:16298371, PMID:17416293 RGD:1601223, RGD:2306766 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015
JBrowse link
G Apom apolipoprotein M ISO protein:decreased expression:plasma RGD PMID:19539616 RGD:2314236 NCBI chrNW_004955437:190,609...192,781
Ensembl chrNW_004955437:190,609...197,342
JBrowse link
G Atm ATM serine/threonine kinase ISO RGD PMID:17084711 RGD:1601248 NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
JBrowse link
G Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit ISO RGD PMID:23320804 RGD:13838660 NCBI chrNW_004955497:225,401...251,024
Ensembl chrNW_004955497:225,158...252,789
JBrowse link
G Bche butyrylcholinesterase ISO protein:increased expression:serum RGD PMID:15907830 RGD:1601317 NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970
JBrowse link
G Bdnf brain derived neurotrophic factor ISO RGD PMID:11935372 RGD:1580935 NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:21760737 RGD:6483594 NCBI chrNW_004955545:2,381,091...2,382,114
Ensembl chrNW_004955545:2,381,156...2,381,978
JBrowse link
G C3 complement C3 ISO RGD PMID:16488421 RGD:2314030 NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
JBrowse link
G Capn10 calpain 10 ISO DNA:polymorphism RGD PMID:16546286 RGD:1625050 NCBI chrNW_004955542:874,083...885,085
Ensembl chrNW_004955542:874,083...885,084
JBrowse link
G Cck cholecystokinin ISO protein:decreased expression:plasma:associated with Obesity, Morbid (MeSH:D009767) RGD PMID:17443025 RGD:1625798 NCBI chrNW_004955420:28,438,806...28,443,458
Ensembl chrNW_004955420:28,438,806...28,443,458
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:plasma (rat) RGD PMID:19905967 RGD:4889977 NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
JBrowse link
G Cd36 CD36 molecule ISO DNA:SNPs: :multiple (human) RGD PMID:9916795, PMID:18305138 RGD:2307208, RGD:619666 NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:16423632, PMID:20006362 RGD:2314214, RGD:5490591 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
JBrowse link
G Chek2 checkpoint kinase 2 ISO mRNA:increased expression:heart left ventricle (rat) RGD PMID:25129990 RGD:10400905 NCBI chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173
JBrowse link
G Ciita class II major histocompatibility complex transactivator ISO DNA:polymorphism:promoter:-168A>G RGD PMID:17183695 RGD:5491201 NCBI chrNW_004955442:7,600,903...7,647,619
Ensembl chrNW_004955442:7,603,893...7,647,624
JBrowse link
G Cst3 cystatin C ISO protein:increased expression:serum (human) RGD PMID:19887833 RGD:2314295 NCBI chrNW_004955415:30,507,972...30,512,109 JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 treatment ISO RGD PMID:21990351 RGD:10401057 NCBI chrNW_004955454:2,933,904...2,944,675
Ensembl chrNW_004955454:2,934,152...2,944,492
JBrowse link
G Dio2 iodothyronine deiodinase 2 ISO DNA:polymorphism: :p.T92A (human) RGD PMID:18198294 RGD:2313696 NCBI chrNW_004955438:3,946,830...3,961,049
Ensembl chrNW_004955438:3,950,983...3,960,355
JBrowse link
G Ephx2 epoxide hydrolase 2 ISO RGD PMID:22007192 RGD:5688391 NCBI chrNW_004955403:49,999,563...50,038,800
Ensembl chrNW_004955403:49,999,563...50,041,572
JBrowse link
G F3 coagulation factor III, tissue factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:12417540 RGD:2313865 NCBI chrNW_004955423:254,060...264,448
Ensembl chrNW_004955423:254,189...264,159
JBrowse link
G Fabp2 fatty acid binding protein 2 ISO DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India RGD PMID:16919542 RGD:1626401 NCBI chrNW_004955428:20,930,512...20,933,950
Ensembl chrNW_004955428:20,930,479...20,933,950
JBrowse link
G Fabp4 fatty acid binding protein 4 ISO protein:increased expression:serum RGD PMID:16919044 RGD:1625406 NCBI chrNW_004955444:141,955...146,279
Ensembl chrNW_004955444:141,840...148,467
JBrowse link
G Fadd Fas associated via death domain ISO protein:increased expression:heart left ventricle RGD PMID:23657904 RGD:11344884 NCBI chrNW_004955422:16,026,323...16,035,808
Ensembl chrNW_004955422:16,031,280...16,036,281
JBrowse link
G Fgf19 fibroblast growth factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28673684 NCBI chrNW_004955422:16,415,880...16,419,528
Ensembl chrNW_004955422:16,415,648...16,420,515
JBrowse link
G Fgf21 fibroblast growth factor 21 treatment ISO RGD PMID:25306889 RGD:10401890 NCBI chrNW_004955559:1,818,400...1,821,423
Ensembl chrNW_004955559:1,817,110...1,820,417
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:19374165, PMID:24868532 RGD:10449117, RGD:2307350 NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083
JBrowse link
G Gckr glucokinase regulator ISO RGD PMID:19861489 RGD:7242423 NCBI chrNW_004955469:9,461,541...9,485,034
Ensembl chrNW_004955469:9,461,848...9,484,707
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 susceptibility ISO RGD PMID:17095717, PMID:24847614 RGD:14747015, RGD:1601300 NCBI chrNW_004955455:8,082,578...8,099,523 JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO In peritoneal dialysis patients
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
DNA:polymorphisms
associated with Kidney Diseases;protein:decreased expression:serum
RGD
ClinVar
PMID:11502844, PMID:12050239, PMID:12161552, PMID:16204371, PMID:18552255, PMID:18996292 RGD:1625021, RGD:2313748, RGD:7242555 NCBI chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812
JBrowse link
G Hdac3 histone deacetylase 3 ISO RGD PMID:21763752 RGD:9590183 NCBI chrNW_004955415:12,138,520...12,154,234
Ensembl chrNW_004955415:12,138,870...12,154,234
JBrowse link
G Hgf hepatocyte growth factor ISO study in the Japanese population RGD PMID:15713721 RGD:1642702 NCBI chrNW_004955410:4,114,280...4,181,953
Ensembl chrNW_004955410:4,114,778...4,182,058
JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chrNW_004955437:2,478,414...2,486,809
Ensembl chrNW_004955437:2,478,414...2,486,809
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:19461650 RGD:5508692 NCBI chrNW_004955425:25,362,165...25,380,611
Ensembl chrNW_004955425:25,359,884...25,380,745
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO RGD PMID:22193921 RGD:10763276 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G Hnf4a hepatocyte nuclear factor 4 alpha ISO Finnish population; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2) RGD PMID:16804065 RGD:1601642 NCBI chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO RGD PMID:14697232 RGD:1625074 NCBI chrNW_004955489:2,500,928...2,524,715
Ensembl chrNW_004955489:2,497,680...2,524,805
JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632216, PMID:18515891, PMID:19142101 NCBI chrNW_004955490:912,615...1,126,347
Ensembl chrNW_004955490:910,415...1,126,373
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:19394054 RGD:2313467 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 susceptibility ISO RGD PMID:31064654 RGD:14985252 NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
JBrowse link
G Igf2 insulin like growth factor 2 ISO DNA:insertion RGD PMID:18418699 RGD:2311520 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
JBrowse link
G Igfbp2 insulin like growth factor binding protein 2 ISO RGD PMID:16915540 RGD:1626481 NCBI chrNW_004955453:16,556,873...16,584,737
Ensembl chrNW_004955453:16,557,194...16,584,634
JBrowse link
G Il18 interleukin 18 treatment ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
RGD
CTD
PMID:16644639, PMID:19717152, PMID:24456735 RGD:4889401, RGD:8655985 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16644639 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Il6r interleukin 6 receptor susceptibility ISO DNA:polymorphism: :p.D358A RGD PMID:16817825 RGD:1625430 NCBI chrNW_004955545:932,814...979,359
Ensembl chrNW_004955545:950,765...981,762
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 chrNW_004955414:19,146,304...19,163,923
Ensembl chrNW_004955414:19,145,432...19,163,923
JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11274935, PMID:16259526 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
JBrowse link
G Irs1 insulin receptor substrate 1 ISO protein:decreased expression:skeletal muscle RGD PMID:10842668 RGD:6482864 NCBI chrNW_004955453:7,685,715...7,742,262
Ensembl chrNW_004955453:7,685,715...7,742,262
JBrowse link
G Itgav integrin subunit alpha V ISO RGD PMID:16784924 RGD:1627640 NCBI chrNW_004955403:11,588,536...11,669,809
Ensembl chrNW_004955403:11,592,339...11,659,297
JBrowse link
G Kl klotho ISO mRNA:decreased expression:kidney: RGD PMID:11027545 RGD:10403056 NCBI chrNW_004955431:12,782,913...12,833,215
Ensembl chrNW_004955431:12,782,846...12,833,215
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma (rat)
CTD
RGD
PMID:16793964, PMID:18515891, PMID:19462476, PMID:25380250 RGD:10053625, RGD:2311125 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
JBrowse link
G Lipg lipase G, endothelial type ISO RGD PMID:16354105 RGD:1580865 NCBI chrNW_004955402:34,666,757...34,689,726
Ensembl chrNW_004955402:34,667,036...34,687,568
JBrowse link
G Lmna lamin A/C ISO DNA:SNP: :c.138747C>T (human) RGD PMID:15205219 RGD:2306121 NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
G LOC102004641 cytochrome b-245 light chain ISO RGD PMID:16741160 RGD:2317864 NCBI chrNW_004955541:2,570,843...2,573,822
Ensembl chrNW_004955541:2,569,727...2,574,118
JBrowse link
G Lrp6 LDL receptor related protein 6 ISO DNA:missense mutation:cds RGD PMID:17332414 RGD:2298725 NCBI chrNW_004955413:9,080,901...9,237,644
Ensembl chrNW_004955413:9,080,914...9,237,650
JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 susceptibility ISO associated with Coronary Disease;DNA:SNP:exon RGD PMID:14557872 RGD:1581921 NCBI chrNW_004955514:2,195,228...2,208,258
Ensembl chrNW_004955514:2,195,228...2,208,688
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO DNA:repeats:intron
protein:increased expression:plasma
RGD PMID:15922301, PMID:17556870 RGD:1642337, RGD:1642345 NCBI chrNW_004955410:10,717,664...10,742,109
Ensembl chrNW_004955410:10,717,664...10,751,177
JBrowse link
G Neil1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448, PMID:17389588 NCBI chrNW_004955450:2,883,344...2,889,593
Ensembl chrNW_004955450:2,883,560...2,887,736
JBrowse link
G Ngf nerve growth factor ISO RGD PMID:11935372 RGD:1580935 NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059
JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to
CTD
ClinVar
RGD
PMID:12947532, PMID:15269839, PMID:20876122, PMID:28361419, PMID:28967023, PMID:29127233 RGD:13450928, RGD:13461762 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Nox1 NADPH oxidase 1 ISO protein:increased expression, increased activity:peripheral blood mononuclear cell (human) RGD PMID:16380495 RGD:1580973 NCBI chrNW_004955503:6,973,965...7,020,182
Ensembl chrNW_004955503:6,974,239...6,997,618
JBrowse link
G Nr1i2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chrNW_004955427:19,459,936...19,487,276
Ensembl chrNW_004955427:19,459,936...19,487,276
JBrowse link
G Nr1i3 nuclear receptor subfamily 1 group I member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20869355 NCBI chrNW_004955468:12,985,105...13,002,850 JBrowse link
G Pla2g4a phospholipase A2 group IVA ISO mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chrNW_004955406:25,257,361...25,392,079
Ensembl chrNW_004955406:25,257,355...25,394,206
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO mRNA:decreased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chrNW_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO mRNA:increased expression:liver RGD PMID:21172452 RGD:6482748 NCBI chrNW_004955437:11,534,251...11,577,942
Ensembl chrNW_004955437:11,534,173...11,555,996
JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:serum RGD PMID:18249307 RGD:2311664 NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394
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 chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma no_association ISO DNA:SNP: :p.P12A (human) RGD PMID:16183630, PMID:16186413, PMID:18959602 RGD:1580683, RGD:1580686, RGD:2301843 NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO mRNA:decreased expression:gastrocnemius muscle (rat) RGD PMID:20383225 RGD:10059661 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435
JBrowse link
G Prl prolactin ISO RGD PMID:16303834 RGD:1642558 NCBI chrNW_004955483:4,495,257...4,503,377 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:liver RGD PMID:17883899 RGD:1642586 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Retn resistin ISO DNA:SNP:promoter:-420C>G (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17598818, PMID:18328350 RGD:7207155 NCBI chrNW_004955563:1,607,814...1,609,273
Ensembl chrNW_004955563:1,607,814...1,609,273
JBrowse link
G Selp selectin P ISO RGD PMID:19061719 RGD:2312292 NCBI chrNW_004955462:7,658,371...7,692,870
Ensembl chrNW_004955462:7,652,437...7,693,994
JBrowse link
G Serpina12 serpin family A member 12 treatment ISO human protein in a mouse model RGD PMID:16030142 RGD:1547845 NCBI chrNW_004955438:17,826,596...17,849,341
Ensembl chrNW_004955438:17,833,919...17,849,393
JBrowse link
G Serpine1 serpin family E member 1 treatment ISO RGD PMID:26084260 RGD:11073736 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
JBrowse link
G Shbg sex hormone binding globulin ISO protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16968811, PMID:17884445, PMID:17992261 RGD:2313785 NCBI chrNW_004955467:9,301,173...9,305,010 JBrowse link
G Sirt1 sirtuin 1 treatment ISO protein:decreased expression:hippocampus (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20068143, PMID:21514307, PMID:25356430 RGD:10053569, RGD:9585758 NCBI chrNW_004955425:20,280,725...20,307,663
Ensembl chrNW_004955425:20,279,963...20,307,663
JBrowse link
G Slc27a1 solute carrier family 27 member 1 susceptibility ISO DNA:gene knockout::Slc27a1-/- mice resistant to diet-induced obesity and metabolic syndrome RGD PMID:16611988 RGD:1642790 NCBI chrNW_004955524:803,793...821,920
Ensembl chrNW_004955524:805,014...821,838
JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility ISO DNA:SNPs RGD PMID:14557872 RGD:1581921 NCBI chrNW_004955458:383,123...394,003
Ensembl chrNW_004955458:382,892...394,749
JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:28875871 RGD:26923956 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO mRNA:increased expression:left heart ventricle RGD PMID:18692559 RGD:2306739 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Thbd thrombomodulin ISO associated with Diabetic Nephropathies;protein:increased expression:plasma RGD PMID:16567841 RGD:1601641 NCBI chrNW_004955415:30,222,830...30,226,406 JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:24441717 RGD:10450604 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with obesity;protein:increased expression:plasma RGD PMID:17200772 RGD:1624178 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
JBrowse link
G Trib3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18497449 NCBI chrNW_004955597:259,209...265,896
Ensembl chrNW_004955597:260,790...265,326
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO RGD PMID:18718174 RGD:2313109 NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:22206010 RGD:7483588 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Vwf von Willebrand factor ISO protein:increased expression:plasma RGD PMID:16764036 RGD:1625709 NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11814
    disease of anatomical entity 11367
      gastrointestinal system disease 3750
        pancreas disease 731
          endocrine pancreas disease 297
            abnormality of glucagon secretion 0
            gastrin secretion abnormality 0
            hyperinsulinism + 280
            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.