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
Accession: DOID:1428
browse the term
Definition: A pancreas disease that is located_in the endocrine component of the pancreas, consisting of islet cells (islets of Langerhans) that create and release important hormones directly into the bloodstream. (DO)
Synonyms: xref: ICD10CM:E16 ; ICD9CM:251
For additional species annotation, visit the
Alliance of Genome Resources .
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ctf1
cardiotrophin 1
ISS
MouseDO
NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
G
Gucy2c
guanylate cyclase 2C
ISS
MouseDO
NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
G
Lep
leptin
ISS
MouseDO
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Neil1
nei-like DNA glycosylase 1
ISS
MouseDO
NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
G
Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15309680
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
G
Pparg
peroxisome proliferator-activated receptor gamma
ISS
MouseDO
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
G
Ppargc1a
PPARG coactivator 1 alpha
IEP
mRNA:increased expression:gastrocnemius muscle (rat)
RGD
PMID:23320128
RGD:7241841
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
G
Prkci
protein kinase C, iota
ISS
MouseDO
NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352
G
Sirt3
sirtuin 3
ISS
MouseDO
NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
G
Slc2a9
solute carrier family 2 member 9
ISS
MouseDO
NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Atp2a2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
IDA
protein:increased oxidation:cardiac muscle cell
RGD
PMID:23997093
RGD:13782087
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
G
Bax
BCL2 associated X, apoptosis regulator
treatment
IEP
RGD
PMID:27131981
RGD:13792503
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
G
Bcl2
BCL2, apoptosis regulator
treatment
IEP
RGD
PMID:27131981
RGD:13792503
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Fadd
Fas associated via death domain
treatment
IEP
RGD
PMID:27131981
RGD:13792503
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
G
Fas
Fas cell surface death receptor
IEP
RGD
PMID:30172001
RGD:13792561
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Lep
leptin
ISS
OMIM:605552
MouseDO
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Lpl
lipoprotein lipase
treatment
IDA
RGD
PMID:26996629
RGD:13794382
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
G
Mttp
microsomal triglyceride transfer protein
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1
ClinVar
PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 PMID:25741868 PMID:27578136 PMID:28492532 PMID:30522860 PMID:33258201 More...
NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
G
Tlr2
toll-like receptor 2
susceptibility
ISO
RGD
PMID:19841034
RGD:15090861
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tp53inp1
tumor protein p53 inducible nuclear protein 1
ISS
OMIM:605552
MouseDO
NCBI chr 5:24,253,986...24,272,250
Ensembl chr 5:24,260,568...24,267,968
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 PMID:29696776 PMID:33644933
NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
G
Dyrk1b
dual specificity tyrosine phosphorylation regulated kinase 1B
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: CENTRAL OBESITY, TYPE 2 DIABETES, HYPERTENSION, AND EARLY-ONSET CORONARY ARTERY DISEASE | ClinVar Annotator: match by term: DYRK1B-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:28492532 PMID:32041611 More...
NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cela2a
chymotrypsin like elastase 2A
ISO
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4
OMIM ClinVar
PMID:25741868 PMID:31358993
NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
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: ACTH deficiency
ClinVar
PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 PMID:28492532 PMID:30576320 PMID:31273949 PMID:31630094 More...
NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
G
Tbx19
T-box transcription factor 19
ISO ISS
OMIM:201400 ClinVar Annotator: match by term: ACTH deficiency | ClinVar Annotator: match by term: TBX19-related condition CTD Direct Evidence: marker/mechanism
OMIM MouseDO ClinVar CTD
PMID:2830787 PMID:9536098 PMID:11290323 PMID:12651888 PMID:15476446 PMID:15613420 PMID:16390921 PMID:17576681 PMID:17652218 PMID:22170728 PMID:25326635 PMID:25741868 PMID:28492532 PMID:33423260 More...
NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cpt1a
carnitine palmitoyltransferase 1A
ISO ISS
ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency OMIM:255120 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9048718 PMID:9536098 PMID:9691089 PMID:11350182 PMID:11350183 PMID:11441142 PMID:12111367 PMID:12189492 PMID:12351641 PMID:14517221 PMID:15110323 PMID:16169268 PMID:16199547 PMID:16958601 PMID:17576681 PMID:19181627 PMID:19217814 PMID:19345525 PMID:20301700 PMID:20696606 PMID:21253826 PMID:21763168 PMID:21962599 PMID:23090344 PMID:23430491 PMID:23430868 PMID:23430932 PMID:23700290 PMID:24033266 PMID:24847810 PMID:25449608 PMID:25640679 PMID:25741868 PMID:26010953 PMID:26820065 PMID:27066452 PMID:27341449 PMID:28125087 PMID:28468868 PMID:28492532 PMID:29519241 PMID:30101502 PMID:31319225 PMID:32088118 PMID:32561900 PMID:32781271 PMID:33845545 PMID:34131458 PMID:34869124 PMID:35360862 More...
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cpt2
carnitine palmitoyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile
CTD OMIM ClinVar
PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 PMID:2647738 PMID:2762996 PMID:7711730 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9536098 PMID:9562964 PMID:9600456 PMID:9758712 PMID:10090476 PMID:10398215 PMID:10734268 PMID:10862092 PMID:10868782 PMID:10873395 PMID:11477613 PMID:11855939 PMID:11994355 PMID:12362414 PMID:12410208 PMID:12673791 PMID:12707442 PMID:14605500 PMID:14615409 PMID:15363638 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:15811315 PMID:16168441 PMID:16199547 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17576681 PMID:17651973 PMID:17709715 PMID:17936304 PMID:18306170 PMID:18363739 PMID:18550408 PMID:18577113 PMID:18645163 PMID:18925671 PMID:19239046 PMID:19762733 PMID:20301431 PMID:20543534 PMID:20661589 PMID:20810031 PMID:20830526 PMID:20934285 PMID:20952238 PMID:21227726 PMID:21697855 PMID:21709843 PMID:21913903 PMID:22494076 PMID:22652984 PMID:22841441 PMID:22854105 PMID:22899091 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:23757202 PMID:23911907 PMID:24033266 PMID:24398345 PMID:24503134 PMID:24517888 PMID:24563797 PMID:24602495 PMID:25326635 PMID:25604974 PMID:25741868 PMID:25827434 PMID:25919294 PMID:26467025 PMID:26477380 PMID:26537576 PMID:26636822 PMID:27067077 PMID:27123472 PMID:27578510 PMID:27629963 PMID:27974123 PMID:28074886 PMID:28492532 PMID:28516040 PMID:28529889 PMID:28600779 PMID:28779239 PMID:28801073 PMID:28871440 PMID:29429925 PMID:29478820 PMID:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30293990 PMID:30455135 PMID:30476936 PMID:30609409 PMID:30957255 PMID:31372341 PMID:31770251 PMID:32295037 PMID:32489884 PMID:32528171 PMID:33123633 PMID:34063237 PMID:34112556 More...
NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL DNA:mutations:exon:multiple DNA:missense mutations, nonsense mutations, splice-site mutations:CDS:multiple DNA:missense mutations:exon:p.G1485E (c.4454G>A), p.D1506E (c.4518C>A), p.M1544K (c.4541T>A) (human) DNA:mutations:exon, intron:multiple DNA:deletion: :p.S1387del (human) CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:3202066 PMID:7716548 PMID:8751851 PMID:8923011 PMID:9041101 PMID:9536098 PMID:9618169 PMID:9648840 PMID:9867219 PMID:10194514 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685979 PMID:10685980 PMID:10720932 PMID:10923633 PMID:11226335 PMID:11272143 PMID:11318841 PMID:11692183 PMID:11872696 PMID:11999683 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12784138 PMID:12941782 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15807877 PMID:15855351 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16416420 PMID:16429405 PMID:16455067 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:16969006 PMID:17236890 PMID:17257281 PMID:17378627 PMID:17384337 PMID:17389331 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17575084 PMID:17576681 PMID:17668386 PMID:17823772 PMID:17919176 PMID:18025408 PMID:18339976 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18596924 PMID:18758683 PMID:18767144 PMID:18796520 PMID:18981553 PMID:18988933 PMID:19151370 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20215776 PMID:20301549 PMID:20301620 PMID:20424228 PMID:20427569 PMID:20432820 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20922570 PMID:20943781 PMID:21199866 PMID:21321069 PMID:21378087 PMID:21536946 PMID:21716120 PMID:21738553 PMID:21835061 PMID:21851374 PMID:21968111 PMID:21989597 PMID:21992908 PMID:22031516 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22311976 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22749773 PMID:22796691 PMID:22802590 PMID:22855730 PMID:23067144 PMID:23261959 PMID:23275527 PMID:23345197 PMID:23506826 PMID:23652837 PMID:23744072 PMID:23771172 PMID:24145932 PMID:24401662 PMID:24434300 PMID:24616771 PMID:24622368 PMID:24645945 PMID:24686051 PMID:24937539 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25518065 PMID:25584046 PMID:25639667 PMID:25741868 PMID:25781672 PMID:25931474 PMID:25972930 PMID:26180531 PMID:26431509 PMID:26448950 PMID:26467025 PMID:26545620 PMID:26740944 PMID:27065949 PMID:27175728 PMID:27188453 PMID:27538677 PMID:27573238 PMID:27682711 PMID:27754802 PMID:27810688 PMID:27908292 PMID:28270372 PMID:28323911 PMID:28439221 PMID:28442472 PMID:28492532 PMID:28667717 PMID:29082728 PMID:29893194 PMID:30114684 PMID:30186238 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30395892 PMID:30462810 PMID:30487145 PMID:30753133 PMID:30873120 PMID:31216263 PMID:31218401 PMID:31291970 PMID:31464105 PMID:31479591 PMID:31525223 PMID:31589614 PMID:31821855 PMID:32027066 PMID:32170320 PMID:32267248 PMID:32376986 PMID:32670376 PMID:32792356 PMID:32893419 PMID:32935446 PMID:33013711 PMID:33046911 PMID:33240318 PMID:33410562 PMID:33477506 PMID:33587123 PMID:34253504 PMID:34566892 PMID:34764980 PMID:34927408 PMID:34992182 PMID:35475025 PMID:36144251 PMID:36208030 PMID:36239000 PMID:36339418 PMID:36699461 PMID:36836406 PMID:38095268 PMID:38513803 PMID:7716548 PMID:23506826 PMID:23652837 PMID:20573158 PMID:16429405 PMID:24401662 PMID:21422196 PMID:18596924 More...
RGD:704365 , RGD:12790723 , RGD:11069847 , RGD:12790596 , RGD:11067821 , RGD:12790587 , RGD:11070657 , RGD:12743628
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Gck
glucokinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial hyperinsulinism
CTD ClinVar
PMID:15277402 PMID:19053014 PMID:19336674 PMID:21831042 PMID:23890519 PMID:25733449 PMID:27802864 PMID:31094068 PMID:34532767 PMID:34680961 More...
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
G
Glud1
glutamate dehydrogenase 1
ISO
ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar RGD
PMID:22730017 PMID:23506826 PMID:25741868 PMID:31119523 PMID:32005694 PMID:34992182 PMID:35951311 PMID:9571255 More...
RGD:1302513
NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
G
Hadh
hydroxyacyl-CoA dehydrogenase
ISO
DNA:deletion:cds (human)
RGD
PMID:14693719
RGD:2306664
NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
G
Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
DNA:mutations: : ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar RGD
PMID:10227563 PMID:10447526 PMID:10983627 PMID:12669197 PMID:15281001 PMID:15793260 PMID:15928245 PMID:16883527 PMID:16946562 PMID:17563455 PMID:18268044 PMID:18414213 PMID:20164212 PMID:21105491 PMID:22140441 PMID:22232426 PMID:23227446 PMID:23247789 PMID:24033266 PMID:24097065 PMID:24476040 PMID:25041077 PMID:25631608 PMID:25741868 PMID:25905084 PMID:26059258 PMID:26467025 PMID:26512799 PMID:26740944 PMID:26981542 PMID:27080136 PMID:27420379 PMID:27884173 PMID:28492532 PMID:29207974 PMID:29355436 PMID:29792621 PMID:30191603 PMID:31264968 PMID:31595705 PMID:32583173 PMID:33846082 PMID:34373539 PMID:34805411 PMID:35052457 PMID:35118593 PMID:35256061 PMID:20164212 More...
RGD:12904701
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | 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:deletion, insertion:exon DNA:missense mutation:exon:p.R34H (c.101G>A) (human)
CTD ClinVar RGD
PMID:9867219 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:15111507 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:15886397 PMID:15998776 PMID:16357843 PMID:16455067 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:20301620 PMID:20424228 PMID:20980454 PMID:21119644 PMID:21544516 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22831748 PMID:23275527 PMID:24018988 PMID:24383515 PMID:24401662 PMID:25741868 PMID:26448950 PMID:26467025 PMID:26545876 PMID:27908292 PMID:28123437 PMID:28492532 PMID:28938416 PMID:29893194 PMID:30377186 PMID:32935446 PMID:36208030 PMID:23506826 PMID:23652837 PMID:24401662 PMID:17316607 PMID:24421282 More...
RGD:12790723 , RGD:11069847 , RGD:12790587 , RGD:12743643 , RGD:12743624
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
G
Kcnt2
potassium sodium-activated channel subfamily T member 2
ISO
ClinVar Annotator: match by term: KCNT2-related condition
ClinVar
PMID:25741868 PMID:29069600
NCBI chr13:51,664,129...52,059,209
Ensembl chr13:51,664,686...52,056,987
G
Tbc1d4
TBC1 domain family, member 4
ISO
RGD
PMID:19470471
RGD:7248544
NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
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: Congenital isolated hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
OMIM ClinVar
PMID:1021286 PMID:2198959 PMID:3202066 PMID:7716548 PMID:7908292 PMID:8650576 PMID:8751851 PMID:8923011 PMID:9041101 PMID:9075812 PMID:9382893 PMID:9519757 PMID:9536098 PMID:9568693 PMID:9618169 PMID:9642650 PMID:9648840 PMID:9769320 PMID:10194514 PMID:10202168 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10400694 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685979 PMID:10685980 PMID:10720932 PMID:10828824 PMID:10857971 PMID:10923633 PMID:10993895 PMID:11018078 PMID:11226335 PMID:11272143 PMID:11395395 PMID:11457841 PMID:11697420 PMID:11867634 PMID:11999683 PMID:12166651 PMID:12169627 PMID:12199344 PMID:12364426 PMID:12559865 PMID:12627323 PMID:12784138 PMID:12941782 PMID:14593442 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15371948 PMID:15466080 PMID:15561897 PMID:15562009 PMID:15579781 PMID:15580558 PMID:15718250 PMID:15807877 PMID:15842514 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16367916 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:16969006 PMID:17236890 PMID:17317760 PMID:17378627 PMID:17384337 PMID:17389331 PMID:17446535 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17576681 PMID:17597441 PMID:17668386 PMID:17823772 PMID:17919176 PMID:17957187 PMID:17990484 PMID:18025408 PMID:18025464 PMID:18073294 PMID:18339976 PMID:18346985 PMID:18390792 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18596924 PMID:18599530 PMID:18758683 PMID:18767144 PMID:18796520 PMID:18981553 PMID:18988933 PMID:19151370 PMID:19475716 PMID:19766903 PMID:19933268 PMID:20042013 PMID:20215776 PMID:20301549 PMID:20427569 PMID:20432820 PMID:20573158 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20922570 PMID:20943779 PMID:20943781 PMID:21109997 PMID:21142918 PMID:21199866 PMID:21214702 PMID:21321069 PMID:21378087 PMID:21411514 PMID:21422196 PMID:21536946 PMID:21544516 PMID:21617188 PMID:21674179 PMID:21716120 PMID:21738553 PMID:21814221 PMID:21835061 PMID:21851374 PMID:21968111 PMID:21978130 PMID:21981106 PMID:21989597 PMID:21992908 PMID:22031516 PMID:22106158 PMID:22151254 PMID:22210575 PMID:22308858 PMID:22311976 PMID:22451668 PMID:22533711 PMID:22562119 PMID:22662265 PMID:22704848 PMID:22749773 PMID:22796691 PMID:22802363 PMID:22802590 PMID:22855730 PMID:22876564 PMID:22902787 PMID:23067144 PMID:23226049 PMID:23261959 PMID:23266803 PMID:23273570 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23506826 PMID:23652837 PMID:23744072 PMID:23771172 PMID:23771920 PMID:23798684 PMID:23903354 PMID:24033266 PMID:24044690 PMID:24072082 PMID:24080777 PMID:24145932 PMID:24332968 PMID:24401662 PMID:24411943 PMID:24434300 PMID:24616771 PMID:24622368 PMID:24645945 PMID:24686051 PMID:24750227 PMID:24768178 PMID:24814349 PMID:24937539 PMID:24959012 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25518065 PMID:25525159 PMID:25555642 PMID:25584046 PMID:25639667 PMID:25720052 PMID:25741868 PMID:25765446 PMID:25781672 PMID:25871929 PMID:25931474 PMID:25955821 PMID:25972930 PMID:26092864 PMID:26162674 PMID:26180531 PMID:26208381 PMID:26246406 PMID:26268944 PMID:26316440 PMID:26379717 PMID:26431509 PMID:26448950 PMID:26467025 PMID:26545620 PMID:26545876 PMID:26594346 PMID:26740944 PMID:26758964 PMID:26839896 PMID:27065949 PMID:27175728 PMID:27188453 PMID:27313609 PMID:27334808 PMID:27538677 PMID:27573238 PMID:27677908 PMID:27681997 PMID:27682711 PMID:27691052 PMID:27754802 PMID:27810688 PMID:27889714 PMID:27908292 PMID:27913849 PMID:28018462 PMID:28095440 PMID:28270372 PMID:28346775 PMID:28439221 PMID:28442472 PMID:28492532 PMID:28529015 PMID:28587604 PMID:28663158 PMID:28667717 PMID:28757749 PMID:28791793 PMID:29082728 PMID:29127764 PMID:29207974 PMID:29216354 PMID:29644095 PMID:29675256 PMID:29751826 PMID:30098243 PMID:30114684 PMID:30186238 PMID:30191644 PMID:30193751 PMID:30276209 PMID:30297969 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30395892 PMID:30447144 PMID:30462810 PMID:30487145 PMID:30515958 PMID:30753133 PMID:30873120 PMID:30977832 PMID:31002010 PMID:31110826 PMID:31208162 PMID:31216263 PMID:31218401 PMID:31291970 PMID:31464105 PMID:31479591 PMID:31525223 PMID:31589614 PMID:31595705 PMID:31604004 PMID:31700171 PMID:31727138 PMID:31821855 PMID:31997554 PMID:32027066 PMID:32041611 PMID:32170320 PMID:32202736 PMID:32267248 PMID:32376986 PMID:32418263 PMID:32640185 PMID:32670376 PMID:32763092 PMID:32792356 PMID:32893419 PMID:32928245 PMID:32934261 PMID:33013711 PMID:33046911 PMID:33240318 PMID:33300273 PMID:33400071 PMID:33410562 PMID:33477506 PMID:33502730 PMID:33587123 PMID:33728157 PMID:34015902 PMID:34032641 PMID:34135026 PMID:34171966 PMID:34194474 PMID:34253504 PMID:34304300 PMID:34309670 PMID:34426522 PMID:34462253 PMID:34566892 PMID:34631896 PMID:34764980 PMID:34777243 PMID:34927408 PMID:34992182 PMID:35402560 PMID:35475025 PMID:36034573 PMID:36144251 PMID:36239000 PMID:36339418 PMID:36407475 PMID:36626423 PMID:36699461 PMID:36836406 PMID:38095268 PMID:38513803 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Andpro
androgen regulated protein
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,718,601...136,725,131
Ensembl chr 3:136,718,602...136,724,966
G
Banf2
BANF family member 2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,387,107...131,442,837
Ensembl chr 3:131,388,130...131,442,832
G
Bfsp1
beaded filament structural protein 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,195,087...131,252,668
Ensembl chr 3:131,195,087...131,229,337
G
Cd93
CD93 molecule
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:135,891,859...135,898,378
Ensembl chr 3:135,891,859...135,898,378
G
Cfap61
cilia and flagella associated protein 61
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:133,354,400...133,633,310
Ensembl chr 3:133,354,197...133,633,320
G
Crnkl1
crooked neck pre-mRNA splicing factor 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:133,338,593...133,354,329
Ensembl chr 3:133,337,039...133,354,302 Ensembl chr 6:133,337,039...133,354,302
G
Cst11
cystatin 11
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,211,414...136,214,138
Ensembl chr 3:136,211,414...136,214,138
G
Cst3
cystatin C
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
G
Cst5
cystatin D
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:137,573,194...137,577,754
Ensembl chr 3:137,573,194...137,577,754
G
Cst8
cystatin 8
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,244,586...136,255,412
Ensembl chr 3:136,244,636...136,251,273
G
Cst9l
cystatin 9-like
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,288,093...136,290,906
Ensembl chr 3:136,288,093...136,290,906
G
Cstl1
cystatin-like 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,199,914...136,204,912
Ensembl chr 3:136,199,914...136,204,912
G
Dstn
destrin, actin depolymerizing factor
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,284,647...131,311,361
Ensembl chr 3:131,284,648...131,311,379
G
Dtd1
D-aminoacyl-tRNA deacylase 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,995,870...132,158,646
Ensembl chr 3:131,995,861...132,158,659
G
Dzank1
double zinc ribbon and ankyrin repeat domains 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,855,890...131,908,217
Ensembl chr 3:131,852,552...131,908,156
G
Foxa2
forkhead box A2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:135,470,123...135,474,326
Ensembl chr 3:135,470,131...135,474,326
G
Gzf1
GDNF-inducible zinc finger protein 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,119,004...136,131,223
Ensembl chr 3:136,119,113...136,131,223
G
Hadh
hydroxyacyl-CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:25741868 PMID:28492532 PMID:29280746 PMID:34055426 PMID:34547194
NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
G
Insm1
INSM transcriptional repressor 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:133,640,030...133,642,963
Ensembl chr 3:133,639,580...133,643,003
G
Kat14
lysine acetyltransferase 14
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,736,430...131,781,732
Ensembl chr 3:131,736,549...131,781,706
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:15580558 PMID:15718250 PMID:16885549 PMID:17466004 PMID:18414213 PMID:25741868 PMID:26448950 PMID:26467025 PMID:28492532 More...
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
G
Kif16b
kinesin family member 16B
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:129,974,692...130,254,194
Ensembl chr 3:129,974,800...130,254,019
G
Kiz
kizuna centrosomal protein
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:134,277,631...134,385,260
Ensembl chr 3:134,277,687...134,385,190
G
Mgme1
mitochondrial genome maintenance exonuclease 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932
G
Naa20
N(alpha)-acetyltransferase 20, NatB catalytic subunit
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:133,322,036...133,336,843
Ensembl chr 3:133,322,064...133,337,009
G
Napb
NSF attachment protein beta
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,132,248...136,179,280
Ensembl chr 3:136,133,428...136,179,345
G
Nkx2-2
NK2 homeobox 2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:134,619,701...134,630,282
Ensembl chr 3:134,620,039...134,622,411
G
Nkx2-4
NK2 homeobox 4
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:134,514,368...134,517,243
Ensembl chr 3:134,515,039...134,516,505
G
Nxt1
nuclear transport factor 2-like export factor 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,108,975...136,111,897
Ensembl chr 3:136,108,862...136,111,907
G
Otor
otoraplin
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:130,415,339...130,418,601
Ensembl chr 3:130,415,339...130,418,601
G
Ovol2
ovo-like zinc finger 2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,677,391...131,707,123
Ensembl chr 3:131,677,391...131,708,359
G
Pax1
paired box 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:134,792,330...134,801,637
Ensembl chr 3:134,789,182...134,801,636
G
Pcsk2
proprotein convertase subtilisin/kexin type 2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:130,880,422...131,183,127
Ensembl chr 3:130,880,422...131,183,127
G
Pet117
PET117 cytochrome c oxidase chaperone
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
G
Polr3f
RNA polymerase III subunit F
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,908,466...131,924,838
Ensembl chr 3:131,908,466...131,924,837
G
Ralgapa2
Ral GTPase activating protein catalytic subunit alpha 2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:133,658,725...133,938,821
Ensembl chr 3:133,659,761...133,938,916
G
Rbbp9
RB binding protein 9, serine hydrolase
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,925,095...131,939,042
Ensembl chr 3:131,925,341...131,932,156
G
Rin2
Ras and Rab interactor 2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:133,086,858...133,303,604
Ensembl chr 3:133,086,749...133,303,604
G
Rrbp1
ribosome binding protein 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,314,996...131,376,930
Ensembl chr 3:131,314,998...131,376,981
G
Scp2d1
SCP2 sterol-binding domain containing 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:132,201,979...132,202,729
Ensembl chr 3:132,200,744...132,212,725
G
Sec23b
Sec23 homolog B, COPII coat complex component
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,939,011...131,981,489
Ensembl chr 3:131,939,337...131,981,489
G
Slc24a3
solute carrier family 24 member 3
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:132,552,119...133,051,192
Ensembl chr 3:132,551,595...133,051,192
G
Snrpb2
small nuclear ribonucleoprotein polypeptide B2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:130,399,239...130,408,821
Ensembl chr 3:130,399,248...130,408,812
G
Snx5
sorting nexin 5
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,621,875...131,641,127
Ensembl chr 3:131,621,880...131,641,192
G
Sstr4
somatostatin receptor 4
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:135,854,826...135,856,689
Ensembl chr 3:135,854,826...135,856,689
G
Thbd
thrombomodulin
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
G
Xrn2
5'-3' exoribonuclease 2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:134,436,916...134,509,308
Ensembl chr 3:134,437,109...134,509,306
G
Zfp133
zinc finger protein 133
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,829,404...131,847,552
Ensembl chr 3:131,829,404...131,847,550
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:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:15111507 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:16455067 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:20301620 PMID:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22591706 PMID:22701567 PMID:22704848 PMID:25741868 PMID:26448950 PMID:26467025 PMID:28492532 PMID:29893194 PMID:32935446 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2
OMIM ClinVar
PMID:7847376 PMID:8897013 PMID:8923010 PMID:9356020 PMID:9867219 PMID:10338089 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:14551916 PMID:14715863 PMID:14871556 PMID:15111507 PMID:15115830 PMID:15504982 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15807877 PMID:15855351 PMID:15886397 PMID:15998776 PMID:16357843 PMID:16416420 PMID:16455067 PMID:16670688 PMID:17114887 PMID:17257281 PMID:17316607 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17673911 PMID:17823772 PMID:17956278 PMID:18250167 PMID:18290324 PMID:18414213 PMID:18596924 PMID:18758683 PMID:18767144 PMID:19214942 PMID:19233137 PMID:19357197 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20032456 PMID:20049716 PMID:20301620 PMID:20424228 PMID:20589481 PMID:20685672 PMID:20686794 PMID:20694718 PMID:20980454 PMID:21115269 PMID:21119644 PMID:21422196 PMID:21544516 PMID:21765448 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22311976 PMID:22471336 PMID:22512215 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22831748 PMID:22958899 PMID:23226049 PMID:23275527 PMID:23345197 PMID:23700433 PMID:24018988 PMID:24383515 PMID:24401662 PMID:24421282 PMID:24434300 PMID:24686051 PMID:24698822 PMID:25247988 PMID:25555642 PMID:25637631 PMID:25639667 PMID:25741868 PMID:25871929 PMID:25972930 PMID:26448950 PMID:26467025 PMID:26545876 PMID:26740944 PMID:27118464 PMID:27188453 PMID:27908292 PMID:28123437 PMID:28352326 PMID:28442472 PMID:28492532 PMID:28938416 PMID:29216354 PMID:29893194 PMID:30026763 PMID:30297969 PMID:30377186 PMID:30873120 PMID:31291970 PMID:31464105 PMID:32027066 PMID:32935446 PMID:33324081 PMID:33762279 PMID:33853507 PMID:34737607 PMID:35402560 PMID:36208030 More...
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Gck
glucokinase
ISO ISS
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3 | ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency OMIM:602485 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:1502186 PMID:2555564 PMID:7553875 PMID:7555485 PMID:8068341 PMID:8325892 PMID:8349034 PMID:8433729 PMID:8446612 PMID:8454109 PMID:8495817 PMID:9049484 PMID:9435328 PMID:9469993 PMID:9536098 PMID:9867845 PMID:10426385 PMID:10447526 PMID:10455021 PMID:10525657 PMID:10753050 PMID:11315850 PMID:11315851 PMID:11372010 PMID:11508276 PMID:11553210 PMID:11916951 PMID:11942313 PMID:12442280 PMID:12627330 PMID:14517946 PMID:14517956 PMID:14578306 PMID:14687251 PMID:15277402 PMID:15305805 PMID:15841481 PMID:15918042 PMID:15928245 PMID:15987895 PMID:16444761 PMID:16602010 PMID:16632067 PMID:16963153 PMID:16965331 PMID:17079173 PMID:17082186 PMID:17353190 PMID:17573900 PMID:17576681 PMID:17937063 PMID:18271687 PMID:18382660 PMID:18399931 PMID:18411240 PMID:19146401 PMID:19309449 PMID:19790256 PMID:20132997 PMID:20301620 PMID:20337973 PMID:20375417 PMID:21437567 PMID:21569204 PMID:21604084 PMID:21720051 PMID:21831042 PMID:22060211 PMID:22194744 PMID:22291974 PMID:22335469 PMID:22389783 PMID:22493702 PMID:22611063 PMID:22761713 PMID:23295292 PMID:23771925 PMID:24097065 PMID:24323243 PMID:24430320 PMID:24518839 PMID:24578721 PMID:24728127 PMID:24735133 PMID:24804978 PMID:24918535 PMID:25015100 PMID:25306193 PMID:25414397 PMID:25555642 PMID:25741868 PMID:25850297 PMID:26123671 PMID:26467025 PMID:27080136 PMID:27256595 PMID:27269892 PMID:27913849 PMID:28012402 PMID:28170077 PMID:28492532 PMID:28726111 PMID:29056535 PMID:29510678 PMID:29927023 PMID:30257192 PMID:30259503 PMID:30592380 PMID:30656436 PMID:31094068 PMID:31197960 PMID:31216263 PMID:31291970 PMID:31576961 PMID:31638168 PMID:31957151 PMID:32041611 PMID:32375122 PMID:32533152 PMID:32741144 PMID:32792356 PMID:33072637 PMID:33129248 PMID:33294763 PMID:33565752 PMID:33852230 PMID:34393998 PMID:34686905 PMID:34746319 PMID:35370948 PMID:35472491 PMID:36178555 PMID:36257325 PMID:37008541 More...
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Hadh
hydroxyacyl-CoA dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency
OMIM CTD ClinVar
PMID:904979 PMID:8825408 PMID:11489939 PMID:14693719 PMID:16725361 PMID:18414213 PMID:19318379 PMID:19417036 PMID:21252247 PMID:21347589 PMID:22579592 PMID:22662265 PMID:23273570 PMID:23275527 PMID:24686051 PMID:25741868 PMID:27104957 PMID:27771675 PMID:28492532 PMID:29280746 PMID:32876354 PMID:34055426 PMID:34547194 More...
NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
G
Insr
insulin receptor
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency
ClinVar
PMID:2002058 PMID:2211730 PMID:2365819 PMID:2983222 PMID:7042734 PMID:8257688 PMID:8288049 PMID:15161766 PMID:19135752 PMID:23705494 PMID:25741868 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:30663027 PMID:31989990 PMID:35000900 More...
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Insr
insulin receptor
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5 | ClinVar Annotator: match by term: Hyperinsulinism due to INSR deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2002058 PMID:2170418 PMID:2211730 PMID:2365819 PMID:2983222 PMID:7042734 PMID:8257688 PMID:8288049 PMID:15161766 PMID:19135752 PMID:23705494 PMID:25741868 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:30663027 PMID:31989990 PMID:35000900 More...
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Glud1
glutamate dehydrogenase 1
ISO
ClinVar Annotator: match by term: GLUD1-related condition | ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9469993 PMID:9536098 PMID:9571225 PMID:9571255 PMID:9843361 PMID:10636977 PMID:10871207 PMID:11214910 PMID:17576681 PMID:18414213 PMID:18928469 PMID:19046187 PMID:19344873 PMID:19690084 PMID:22730017 PMID:23506826 PMID:23869231 PMID:25008049 PMID:25741868 PMID:26467025 PMID:26759084 PMID:26839063 PMID:27188453 PMID:28165182 PMID:28492532 PMID:30252420 PMID:30306091 PMID:30352420 PMID:30425915 PMID:31119523 PMID:32005694 PMID:34992182 PMID:35951311 PMID:36239000 More...
NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
G
Shld2
shieldin complex subunit 2
ISO
ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr16:9,544,940...9,640,323
Ensembl chr16:9,548,660...9,639,965
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Slc16a1
solute carrier family 16 member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Exercise-induced hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 7
OMIM CTD ClinVar
PMID:11207177 PMID:17701893 PMID:18414213 PMID:19881260 PMID:25371203 PMID:25741868 PMID:25741869 PMID:26595136 PMID:28492532 More...
NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Slc25a36
solute carrier family 25 member 36
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 8
OMIM ClinVar
PMID:34576089 PMID:34971397 PMID:36695547
NCBI chr 8:97,659,848...97,693,735
Ensembl chr 8:97,662,127...97,693,703
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Hmgcs2
3-hydroxy-3-methylglutaryl-CoA synthase 2
ISO ISS
ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: HMGCS2-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY OMIM:605911 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9337379 PMID:9536098 PMID:9727719 PMID:11228257 PMID:11479731 PMID:12072887 PMID:12647205 PMID:16199547 PMID:17576681 PMID:20346956 PMID:23751782 PMID:25511235 PMID:25741868 PMID:28492532 PMID:29597274 PMID:30283815 PMID:30477625 PMID:31910233 PMID:32259399 PMID:32952630 PMID:33045405 PMID:35308163 PMID:38469099 More...
NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
G
Phgdh
phosphoglycerate dehydrogenase
ISO
ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency
ClinVar
PMID:25741868
NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abcc8
ATP binding cassette subfamily C member 8
ISS ISO
OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
MouseDO ClinVar
PMID:1021286 PMID:2198959 PMID:7716548 PMID:7908292 PMID:8650576 PMID:8751851 PMID:8923011 PMID:9382893 PMID:9519757 PMID:9536098 PMID:9568693 PMID:9618169 PMID:9648840 PMID:9769320 PMID:9867219 PMID:10194514 PMID:10202168 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10400694 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10685979 PMID:10685980 PMID:10720932 PMID:10923633 PMID:11226335 PMID:11272143 PMID:11318841 PMID:11395395 PMID:11692183 PMID:11867634 PMID:11872696 PMID:11999683 PMID:12169627 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12941782 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16455067 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:17236890 PMID:17257281 PMID:17378627 PMID:17384337 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17576681 PMID:17823772 PMID:18025408 PMID:18339976 PMID:18414213 PMID:18493152 PMID:18596924 PMID:18758683 PMID:18767144 PMID:18796520 PMID:18981553 PMID:18988933 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301549 PMID:20301620 PMID:20424228 PMID:20427569 PMID:20573158 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20943779 PMID:20943781 PMID:21214702 PMID:21378087 PMID:21422196 PMID:21536946 PMID:21674179 PMID:21716120 PMID:21835061 PMID:21851374 PMID:21968111 PMID:21978130 PMID:21989597 PMID:22031516 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22210575 PMID:22264780 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22855730 PMID:22876564 PMID:23067144 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23744072 PMID:24033266 PMID:24044690 PMID:24072082 PMID:24332968 PMID:24401662 PMID:24434300 PMID:24616771 PMID:24686051 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25741868 PMID:25765446 PMID:25972930 PMID:26180531 PMID:26379717 PMID:26431509 PMID:26448950 PMID:26467025 PMID:26740944 PMID:27065949 PMID:27175728 PMID:27188453 PMID:27313609 PMID:27538677 PMID:27573238 PMID:27681997 PMID:27682711 PMID:27754802 PMID:27889714 PMID:27908292 PMID:27913849 PMID:28492532 PMID:28701683 PMID:29644095 PMID:29893194 PMID:30098243 PMID:30186238 PMID:30193751 PMID:30297969 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30395892 PMID:30447144 PMID:30753133 PMID:30873120 PMID:30977832 PMID:31110826 PMID:31208162 PMID:31216263 PMID:31464105 PMID:31589614 PMID:31604004 PMID:31997554 PMID:32027066 PMID:32041611 PMID:32202736 PMID:32376986 PMID:32418263 PMID:32640185 PMID:32670376 PMID:32763092 PMID:32792356 PMID:32928245 PMID:32935446 PMID:33046911 PMID:33410562 PMID:34171966 PMID:34253504 PMID:34426522 PMID:34462253 PMID:34631896 PMID:34764980 PMID:34927408 PMID:36144251 PMID:36339418 PMID:38095268 PMID:38513803 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Gck
glucokinase
ISS
OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021
MouseDO
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
G
Hadh
hydroxyacyl-CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
ClinVar
PMID:8825408 PMID:16725361 PMID:19417036 PMID:21347589 PMID:23275527 PMID:25741868 PMID:27104957 PMID:27771675 PMID:28492532 PMID:29280746 PMID:32876354 PMID:34055426 PMID:34547194 More...
NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia
ClinVar
PMID:9867219 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:14871556 PMID:15111507 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:15886397 PMID:15998776 PMID:16357843 PMID:16455067 PMID:16670688 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:20301620 PMID:20424228 PMID:21119644 PMID:21544516 PMID:21765448 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22512215 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22831748 PMID:23275527 PMID:24018988 PMID:24401662 PMID:25741868 PMID:25972930 PMID:26448950 PMID:26467025 PMID:26545876 PMID:27908292 PMID:28123437 PMID:28352326 PMID:28492532 PMID:29893194 PMID:30377186 PMID:32935446 More...
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive
ClinVar RGD
PMID:1021286 PMID:7716548 PMID:8923011 PMID:9041101 PMID:9075812 PMID:9519757 PMID:9536098 PMID:9568693 PMID:9618169 PMID:9642650 PMID:9648840 PMID:9769320 PMID:9867219 PMID:10202168 PMID:10204114 PMID:10338089 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685979 PMID:10685980 PMID:10720932 PMID:10828824 PMID:10857971 PMID:10923633 PMID:10993895 PMID:11226335 PMID:11272143 PMID:11318841 PMID:11395395 PMID:11457841 PMID:11692183 PMID:11697420 PMID:11867634 PMID:11872696 PMID:11999683 PMID:12166651 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12941782 PMID:14593442 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15807877 PMID:15842514 PMID:15855351 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16367916 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16455067 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:16969006 PMID:17236890 PMID:17257281 PMID:17378627 PMID:17389331 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17576681 PMID:17668386 PMID:17823772 PMID:17919176 PMID:18025408 PMID:18025464 PMID:18073294 PMID:18339976 PMID:18346985 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18596924 PMID:18599530 PMID:18758683 PMID:18767144 PMID:18796520 PMID:18981553 PMID:18988933 PMID:19151370 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:19766903 PMID:19933268 PMID:20301549 PMID:20301620 PMID:20424228 PMID:20427569 PMID:20432820 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20922570 PMID:20943779 PMID:20943781 PMID:21142918 PMID:21321069 PMID:21378087 PMID:21411514 PMID:21422196 PMID:21536946 PMID:21544516 PMID:21716120 PMID:21738553 PMID:21814221 PMID:21851374 PMID:21978130 PMID:21989597 PMID:22031516 PMID:22082043 PMID:22151254 PMID:22163043 PMID:22209866 PMID:22210575 PMID:22264780 PMID:22533711 PMID:22562119 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22802363 PMID:22802590 PMID:22855730 PMID:22902787 PMID:23067144 PMID:23226049 PMID:23261959 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23652837 PMID:23744072 PMID:23771172 PMID:23771920 PMID:24145932 PMID:24332968 PMID:24401662 PMID:24434300 PMID:24616771 PMID:24645945 PMID:24686051 PMID:24768178 PMID:24814349 PMID:24937539 PMID:24959012 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25518065 PMID:25525159 PMID:25555642 PMID:25584046 PMID:25639667 PMID:25741868 PMID:25765446 PMID:25781672 PMID:25871929 PMID:25931474 PMID:25955821 PMID:25972930 PMID:26180531 PMID:26221353 PMID:26246406 PMID:26379717 PMID:26431509 PMID:26448950 PMID:26467025 PMID:26594346 PMID:26740944 PMID:26758964 PMID:26839896 PMID:27065949 PMID:27175728 PMID:27188453 PMID:27538677 PMID:27573238 PMID:27677908 PMID:27681997 PMID:27682711 PMID:27754802 PMID:27908292 PMID:27913849 PMID:28095440 PMID:28439221 PMID:28442472 PMID:28492532 PMID:28587604 PMID:28663158 PMID:28701683 PMID:28757749 PMID:29207974 PMID:29644095 PMID:29751826 PMID:29893194 PMID:30114684 PMID:30186238 PMID:30191644 PMID:30297969 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30447144 PMID:30462810 PMID:30515958 PMID:30753133 PMID:30873120 PMID:31216263 PMID:31291970 PMID:31464105 PMID:31604004 PMID:31700171 PMID:31727138 PMID:31821855 PMID:32027066 PMID:32041611 PMID:32333556 PMID:32376986 PMID:32640185 PMID:32670376 PMID:32792356 PMID:32934261 PMID:32935446 PMID:33013711 PMID:33046911 PMID:33185579 PMID:33240318 PMID:33300273 PMID:33400071 PMID:33410562 PMID:34032641 PMID:34171966 PMID:34194474 PMID:34309670 PMID:34426522 PMID:34462253 PMID:34566892 PMID:34631896 PMID:34777243 PMID:35402560 PMID:36034573 PMID:36144251 PMID:36208030 PMID:36339418 PMID:36407475 PMID:38095268 PMID:38513803 PMID:16416420 PMID:12199344 More...
RGD:1625279 , RGD:1598639
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Adcyap1
adenylate cyclase activating polypeptide 1
ISO
RGD
PMID:14742740
RGD:2325255
NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
G
Adipoq
adiponectin, C1Q and collagen domain containing
IEP
RGD
PMID:16414018
RGD:1599145
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
G
Adipor1
adiponectin receptor 1
IEP
mRNA:decreased expression:skeletal muscle cell
RGD
PMID:16326833
RGD:1625765
NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241
G
Adipor2
adiponectin receptor 2
IEP
mRNA:increased expression:skeletal muscle cell
RGD
PMID:16326833
RGD:1625765
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
G
Adm
adrenomedullin
ISO
associated with Obesity;protein:increased expression:plasma
RGD
PMID:15789277
RGD:1625301
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
G
Adra1b
adrenoceptor alpha 1B
susceptibility
ISO
RGD
PMID:14581480 PMID:14581480
RGD:1625772 , RGD:1625772
NCBI chr10:28,255,025...28,373,418
Ensembl chr10:28,255,025...28,312,919
G
Adrb3
adrenoceptor beta 3
ISO
associated with Obesity;mRNA:decreased expression:epidydimis, white fat
RGD
PMID:11014217
RGD:2313165
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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Agt
angiotensinogen
ISO
associated with obesity;DNA:polymorphism: :p.M235T
RGD
PMID:16713443
RGD:1601142
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
IEP
RGD
PMID:16565309
RGD:1642975
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Bbs1
Bardet-Biedl syndrome 1
ISO
RGD
PMID:33722691
RGD:243065268
NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086
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Brd2
bromodomain containing 2
ISO
RGD
PMID:19883376
RGD:9586446
NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
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Ccl2
C-C motif chemokine ligand 2
IEP ISO
mRNA, protein:increased expression:aorta (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29035695 PMID:17180354
RGD:8549642
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cd163
CD163 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd40
CD40 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cd68
Cd68 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
G
Cdkn1c
cyclin-dependent kinase inhibitor 1C
ISO
DNA:loss of heterozygosity:pancreatic islet
RGD
PMID:11723059
RGD:2311334
NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
G
Col3a1
collagen type III alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20836762
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Ddc
dopa decarboxylase
ISO
protein:increased expression:pancreatic beta cell (human)
RGD
PMID:16403819
RGD:5129140
NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
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Fanca
FA complementation group A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22482891
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Fancc
FA complementation group C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22482891
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
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Fbn1
fibrillin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20836762
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Foxa2
forkhead box A2
ISO
RGD
PMID:11445544
RGD:2313243
NCBI chr 3:135,470,123...135,474,326
Ensembl chr 3:135,470,131...135,474,326
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Gcg
glucagon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3019152
NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929
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Gck
glucokinase
ISO
hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar RGD
PMID:27269892 PMID:29510678 PMID:30257192 PMID:31197960 PMID:32375122 PMID:33129248 PMID:9435328 More...
RGD:1601294
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
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Gfpt1
glutamine fructose-6-phosphate transaminase 1
IEP
mRNA:increased expression:gastrocnemius
RGD
PMID:16555472
RGD:1624365
NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471
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Gip
gastric inhibitory polypeptide
IEP
protein:decreased expression:plasma (rat)
RGD
PMID:8059006
RGD:2312550
NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503
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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
ClinVar CTD RGD
PMID:9571255 PMID:25741868 PMID:26467025 PMID:28492532 PMID:10636977 PMID:20670938 More...
RGD:1601353 , RGD:6484656
NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
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Gpx1
glutathione peroxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15184668 PMID:18560803
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Hadh
hydroxyacyl-CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive
ClinVar
PMID:25741868 PMID:28492532 PMID:29280746 PMID:34055426 PMID:34547194
NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19171794
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency | ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar RGD
PMID:9267996 PMID:9313765 PMID:9449683 PMID:10983627 PMID:15793260 PMID:16883527 PMID:16917892 PMID:16946562 PMID:17563455 PMID:17573900 PMID:18268044 PMID:18811724 PMID:19406499 PMID:20164212 PMID:20705777 PMID:21353246 PMID:22662265 PMID:22802087 PMID:23348805 PMID:23485969 PMID:24033266 PMID:24285859 PMID:25741868 PMID:25819479 PMID:26467025 PMID:27245055 PMID:27846149 PMID:28458902 PMID:28492532 PMID:28693455 PMID:28844315 PMID:29493090 PMID:29998026 PMID:30005691 PMID:30977832 PMID:31523701 PMID:31529154 PMID:31529156 PMID:31875549 PMID:32583173 PMID:33770274 PMID:34789499 PMID:35052457 PMID:35118593 PMID:36208030 PMID:36257325 PMID:36504295 PMID:17407387 More...
RGD:12904698
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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Hp
haptoglobin
ISO
protein:increased expression:serum
RGD
PMID:17598972
RGD:1626335
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Il6
interleukin 6
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)
RGD
PMID:19375766
RGD:2307250
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:2991050 PMID:3511099 PMID:4019786 PMID:6382002 PMID:36764371 PMID:9667398 More...
RGD:1625121
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Insr
insulin receptor
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutation: :p.P1195L (mouse)
CTD RGD
PMID:10949030 PMID:18411068 PMID:10949030 PMID:21549686
RGD:1302523 , RGD:10403034
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Ireb2
iron responsive element binding protein 2
IEP
protein:increased expression:liver (rat)
RGD
PMID:25385842
RGD:12903966
NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
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Irs1
insulin receptor substrate 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19734900
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
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Itgam
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive protein:substitution: :p.H259R (human)
ClinVar RGD
PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12524280 PMID:12540637 PMID:12540638 PMID:14871556 PMID:15111507 PMID:15115830 PMID:15448106 PMID:15504982 PMID:15531505 PMID:15579791 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15797964 PMID:15838686 PMID:15855351 PMID:16123337 PMID:16205880 PMID:16416420 PMID:16455067 PMID:16609879 PMID:16670688 PMID:16731837 PMID:16885549 PMID:16885550 PMID:17065345 PMID:17257281 PMID:17316607 PMID:17327377 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17475937 PMID:17490422 PMID:17491708 PMID:17635943 PMID:17823772 PMID:17901525 PMID:18414213 PMID:18596924 PMID:18662362 PMID:18758683 PMID:18767144 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20022885 PMID:20032456 PMID:20049716 PMID:20220270 PMID:20301620 PMID:20424228 PMID:20466780 PMID:20589481 PMID:20685672 PMID:20980454 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22471336 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22768671 PMID:23700433 PMID:24068186 PMID:24383515 PMID:24434300 PMID:24622368 PMID:24698822 PMID:25308342 PMID:25639667 PMID:25741868 PMID:25871929 PMID:26448950 PMID:26467025 PMID:26740944 PMID:26839896 PMID:26958039 PMID:27173951 PMID:27181376 PMID:27681997 PMID:28480665 PMID:28492532 PMID:28938416 PMID:29893194 PMID:32027066 PMID:32893419 PMID:32935446 PMID:33046911 PMID:33987715 PMID:36208030 PMID:16416420 PMID:15998776 More...
RGD:1625279 , RGD:1625277
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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Lep
leptin
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9826672 PMID:22948215
RGD:12904911
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Lepem1Sage
leptin; zinc finger nuclease induced mutant1, Sage
IMP
RGD
PMID:22948215
RGD:12904911
G
Lepr
leptin receptor
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:3519326 PMID:15093691 PMID:22949526 PMID:24384915 PMID:25222487 PMID:29988851 PMID:30689673 PMID:33345901 PMID:26537785 More...
RGD:12911216
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Leprem4Lizh
leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh
IMP
RGD
PMID:26537785
RGD:12911216
G
Lipc
lipase C, hepatic type
IDA ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)
RGD
PMID:7047662 PMID:1592086 PMID:11095452
RGD:2308800 , RGD:2308794 , RGD:2308844
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Lta
lymphotoxin alpha
ISO
associated with Coronary Arteriosclerosis
RGD
PMID:9726033
RGD:1625034
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Mc4r
melanocortin 4 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23251400
NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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Mgrn1
mahogunin ring finger 1
ISO
RGD
PMID:16638826
RGD:1641947
NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315
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Mrc1
mannose receptor, C type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857
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Mttp
microsomal triglyceride transfer protein
susceptibility
ISO
DNA:polymorphism:promoter:-493G>T
RGD
PMID:11849654
RGD:1625490
NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
G
Neil1
nei-like DNA glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16446448
NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19008412
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Npy5r
neuropeptide Y receptor Y5
IDA
RGD
PMID:15187000
RGD:1625494
NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382
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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 chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
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Pfkfb1
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
IEP
associated with Obesity;protein:increased expression:liver
RGD
PMID:9705027
RGD:2302681
NCBI chr X:19,508,522...19,562,165
Ensembl chr X:19,508,546...19,562,182
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Pklr
pyruvate kinase L/R
ISO
mRNA:increased expression:liver
RGD
PMID:14766002
RGD:1625581
NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
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Prkcd
protein kinase C, delta
IEP
RGD
PMID:8826977
RGD:1625605
NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
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Prkcq
protein kinase C, theta
IEP
associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus
RGD
PMID:8826977
RGD:1625605
NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
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Pten
phosphatase and tensin homolog
IEP
protein:decreased expression:ovary
RGD
PMID:18421022
RGD:2292519
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Ptpn1
protein tyrosine phosphatase, non-receptor type 1
ISO IEP
CTD Direct Evidence: therapeutic associated with Carotid Artery Injuries;mRNA, protein:altered expression, altered activity:carotid artery (rat)
CTD RGD
PMID:28899902 PMID:19011046
RGD:401965418
NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
G
Ptprf
protein tyrosine phosphatase, receptor type, F
ISO
mouse model overexpressing human transgene
RGD
PMID:11309481
RGD:1642735
NCBI chr 5:131,741,959...131,824,000
Ensembl chr 5:131,742,754...131,810,023
G
Rbp4
retinol binding protein 4
onset
ISO
associated with coronary artery disease;protein:increased expression:blood serum (human)
RGD
PMID:25233041
RGD:329845593
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
G
Rps6kb1
ribosomal protein S6 kinase B1
IEP
protein:increased phosphorylation:liver, skeletal muscle
RGD
PMID:15692808
RGD:1643026
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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Scd
stearoyl-CoA desaturase
IEP
associated with Obesity
RGD
PMID:16284748
RGD:1580005
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Shld2
shieldin complex subunit 2
ISO
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar
NCBI chr16:9,544,940...9,640,323
Ensembl chr16:9,548,660...9,639,965
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Slc16a1
solute carrier family 16 member 1
ISO
ClinVar Annotator: match by term: Hyperinsulinism, Dominant
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611
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Slc27a1
solute carrier family 27 member 1
IEP
protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle
RGD
PMID:15281014
RGD:1642794
NCBI chr16:18,278,984...18,300,173
Ensembl chr16:18,278,984...18,296,063
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tsc22d3
TSC22 domain family, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22556341
NCBI chr X:104,217,898...104,277,886
Ensembl chr X:104,217,925...104,276,861
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Txnip
thioredoxin interacting protein
susceptibility
ISO
DNA:nonsense mutation
RGD
PMID:15047687
RGD:1642753
NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
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Ucp2
uncoupling protein 2
ISO
ClinVar Annotator: match by term: UCP2-related condition
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Abcc8
ATP binding cassette subfamily C member 8
IMP ISO
ClinVar Annotator: match by term: Hypoglycemia
ClinVar RGD
PMID:10204114 PMID:10685980 PMID:16380471 PMID:16416420 PMID:16613899 PMID:16885549 PMID:17539904 PMID:18025408 PMID:18596924 PMID:18981553 PMID:20849526 PMID:21989597 PMID:22210575 PMID:23275527 PMID:23345197 PMID:25741868 PMID:26467025 PMID:27538677 PMID:28492532 PMID:30297969 PMID:30447144 PMID:31604004 PMID:32027066 PMID:32041611 PMID:32640185 PMID:32792356 PMID:33565752 PMID:34171966 PMID:34426522 PMID:34462253 PMID:36208030 PMID:18776135 More...
RGD:2301896
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Agtr2
angiotensin II receptor, type 2
ISO
associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :1675G>A (human)
RGD
PMID:18328310
RGD:2313551
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34848246
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Akt2
AKT serine/threonine kinase 2
ISO
RGD
PMID:21979934
RGD:7248543
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15454078
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
G
Creb1
cAMP responsive element binding protein 1
ISO
RGD
PMID:11557984
RGD:734816
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Crh
corticotropin releasing hormone
IDA
RGD
PMID:12606499
RGD:704397
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
G
Epo
erythropoietin
ISO
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma
RGD
PMID:19211168
RGD:2313835
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
G
G6pc1
glucose-6-phosphatase catalytic subunit 1
ISO
ClinVar Annotator: match by term: Hypoglycemia
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:12713862 PMID:15316959 PMID:18008183 PMID:20301489 PMID:21599942 PMID:23312056 PMID:24033266 PMID:24082139 PMID:24385852 PMID:25308557 PMID:25741868 PMID:28397058 PMID:28492532 PMID:29750741 PMID:32313153 PMID:33224545 PMID:33763395 PMID:34093448 More...
NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
G
Gck
glucokinase
ISO
hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M
RGD
PMID:9435328
RGD:1601294
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
G
Glud1
glutamate dehydrogenase 1
ISO
familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A
RGD
PMID:10636977
RGD:1601353
NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
G
Gpx3
glutathione peroxidase 3
ISO
mRNA:increased expression:retina
RGD
PMID:21738719
RGD:401827130
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
G
Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
IEP
mRNA, protein:increased expression:cerebellum (rat)
RGD
PMID:20056114
RGD:4107025
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
G
Gsr
glutathione-disulfide reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20620209
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Hnf1a
HNF1 homeobox A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15787664
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
G
Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
associated with Hyperinsulinemia;DNA:frameshift mutation, nonsense mutation, splice-site mutation
RGD
PMID:18268044 PMID:17407387
RGD:2301837 , RGD:12904698
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
G
Igf2
insulin-like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3185662
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1884014
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Inppl1
inositol polyphosphate phosphatase-like 1
ISO
RGD
PMID:11343120
RGD:737755
NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500
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Ins1
insulin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:222008 PMID:3084764 PMID:6797439 PMID:18545258
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
G
Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:48835 PMID:1324617 PMID:1646414 PMID:1890151 PMID:2554359 PMID:20620209 PMID:22940631 More...
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Hypoglycemia
ClinVar
PMID:18596924 PMID:20032456 PMID:23700433 PMID:27908292 PMID:31464105
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
G
Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Hypoglycemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
G
Nsd2
nuclear receptor binding SET domain protein 2
ISO
ClinVar Annotator: match by term: Hypoglycemia
ClinVar
PMID:25741868
NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641
G
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
RGD
PMID:9988280
RGD:737788
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Pnmt
phenylethanolamine-N-methyltransferase
IEP
associated with Diabetes Mellitus, Experimental; mRNA:decreased expression:adrenal gland (rat)
RGD
PMID:15494609
RGD:5130725
NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16777972
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
G
Ppp1r3a
protein phosphatase 1, regulatory subunit 3A
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:insertion/deletion:3' UTR (human)
RGD
PMID:9814479
RGD:1601469
NCBI chr 4:42,937,353...42,980,195
Ensembl chr 4:42,939,599...42,980,638
G
Prl
prolactin
ISO
associated with Hypertension
RGD
PMID:16617309
RGD:1642557
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
G
Scn9a
sodium voltage-gated channel alpha subunit 9
ISO
ClinVar Annotator: match by term: Hypoglycemia
ClinVar
PMID:19763161 PMID:22604722 PMID:23129781 PMID:25250524 PMID:25741868 PMID:26467025 PMID:27504264 PMID:28492532 PMID:29176367 PMID:30642272 PMID:33216760 More...
NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
G
Serpina1
serpin family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17659342
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20620209
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Th
tyrosine hydroxylase
IEP
associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat)
RGD
PMID:16396986
RGD:5130724
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8774068
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ucp3
uncoupling protein 3
ISO
RGD
PMID:10935638
RGD:737762
NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Akt2
AKT serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and body hemihypertrophy | ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and hemihypertrophy
OMIM ClinVar
PMID:15166380 PMID:16722806 PMID:17327441 PMID:21518566 PMID:21979934 PMID:25741868 PMID:28341696 PMID:28492532 More...
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Acaca
acetyl-CoA carboxylase alpha
treatment
IDA IEP
RGD
PMID:16485039 PMID:26394137
RGD:1625727 , RGD:329955565
NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
G
Acacb
acetyl-CoA carboxylase beta
treatment
IDA IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22658938 PMID:16485039 PMID:26394137
RGD:1625727 , RGD:329955565
NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655
G
Ace
angiotensin I converting enzyme
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Acp1
acid phosphatase 1
ISO
associated with Obesity
RGD
PMID:17353188
RGD:2313180
NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021
G
Acsl1
acyl-CoA synthetase long-chain family member 1
ISO
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:16788709
RGD:1625735
NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541
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Adipoq
adiponectin, C1Q and collagen domain containing
treatment
IEP ISO
CTD Direct Evidence: therapeutic associated with Hypertension
CTD RGD
PMID:18931039 PMID:21484566 PMID:16041833 PMID:23089228 PMID:21872431
RGD:1599150 , RGD:8695951 , RGD:8695928
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adipor1
adiponectin receptor 1
resistance
ISO
associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C
RGD
PMID:17285539
RGD:1625762
NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241
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Adipor2
adiponectin receptor 2
treatment
IEP
RGD
PMID:30225267 PMID:24797033
RGD:21406435 , RGD:25824940
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
G
Adm
adrenomedullin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33491863
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
G
Adora1
adenosine A1 receptor
treatment
ISO IDA
associated with Obesity
RGD
PMID:11703426 PMID:15220221
RGD:2313807 , RGD:1625243
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
G
Adra1b
adrenoceptor alpha 1B
susceptibility
ISO
RGD
PMID:14581480 PMID:14581480
RGD:1625772 , RGD:1625772
NCBI chr10:28,255,025...28,373,418
Ensembl chr10:28,255,025...28,312,919
G
Adrb2
adrenoceptor beta 2
ISO IDA
DNA:polymorphism: :p.R16G CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19034036 PMID:15699455 PMID:11510954
RGD:1601125 , RGD:1598757
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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:17299491 PMID:10582543
RGD:1559326 , RGD:2313158 , RGD:5684421
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
G
Agtr2
angiotensin II receptor, type 2
IEP
protein:increased expression:dorsal root ganglion, neuron
RGD
PMID:22357959
RGD:6903873
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
G
Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25734695
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
G
Ahsg
alpha-2-HS-glycoprotein
susceptibility
ISO
protein:increased expression:plasma
RGD
PMID:17011519 PMID:17011519 PMID:16567827
RGD:1625793 , RGD:1625793 , RGD:1625794
NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999
G
Akt2
AKT serine/threonine kinase 2
no_association
ISO
DNA:SNPs
RGD
PMID:17327441
RGD:1601155
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
G
Aldh2
aldehyde dehydrogenase 2 family member
treatment
IEP
protein:altered expression, altered activity:liver (rat)
RGD
PMID:28688179
RGD:14981582
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
G
Alox15
arachidonate 15-lipoxygenase
ISO
RGD
PMID:19787041
RGD:5509625
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
G
Ankrd26
ankyrin repeat domain containing 26
ISO
RGD
PMID:18162531
RGD:9681744
NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968
G
Apln
apelin
IEP
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:17594060
RGD:1626170
NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
G
Apoa2
apolipoprotein A2
ISO
RGD
PMID:11246886
RGD:2313957
NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
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Apoc1
apolipoprotein C1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:11723061
RGD:2313951
NCBI chr 1:79,347,057...79,350,340
Ensembl chr 1:79,346,136...79,350,375
G
Apoc3
apolipoprotein C3
susceptibility treatment
ISO IEP
RGD
PMID:15734841 PMID:15007394
RGD:1601226 , RGD:1580750
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
G
Ar
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG
CTD RGD
PMID:21444647 PMID:17332526 PMID:16793958
RGD:1601244 , RGD:2306773
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Arg1
arginase 1
IEP
protein:decreased activity:liver (rat)
RGD
PMID:20593143
RGD:4142796
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
G
As3mt
arsenite methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr 1:245,595,939...245,628,921
Ensembl chr 1:245,596,108...245,627,872
G
Atm
ATM serine/threonine kinase
treatment
IEP ISO
protein:decreased expression:muscle: Associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNP:intron: (rs11212617) (human)
RGD
PMID:18534819 PMID:23171036
RGD:8693659 , RGD:126781688
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Atp1a2
ATPase Na+/K+ transporting subunit alpha 2
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:14576983
RGD:1601252
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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Bad
BCL2-associated agonist of cell death
IDA
protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart
RGD
PMID:21385329
RGD:10053645
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
G
Bche
butyrylcholinesterase
ISO
RGD
PMID:17917325
RGD:2306776
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Bdkrb1
bradykinin receptor B1
IMP IEP
RGD
PMID:17618300 PMID:17988733
RGD:5129217 , RGD:5129214
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
G
Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
IMP
RGD
PMID:25934999
RGD:11085488
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
G
Bscl2m1Kyo
BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo
IMP
RGD
PMID:25934999
RGD:11085488
G
C1r
complement C1r
ISO
protein:increased expression:adipocyte
RGD
PMID:17244723
RGD:1600551
NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
G
C3
complement C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18615583
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Capn10
calpain 10
ISO
DNA:SNP:intron:rs3792267 (human)
RGD
PMID:11018080
RGD:7247736
NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
G
Casp1
caspase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22325453
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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Casp3
caspase 3
treatment
IEP
RGD
PMID:29748970
RGD:13782289
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
G
Casp8
caspase 8
IEP
RGD
PMID:29748970
RGD:13782289
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Cat
catalase
ISO
associated with Obesity
RGD
PMID:19188683
RGD:5130761
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cblb
Cbl proto-oncogene B
ISO
RGD
PMID:17601987
RGD:2314038
NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839
G
Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
associated with Obesity in Diabetes;DNA:polymorphism:promoter:-2518A>G (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29035695 PMID:18762729 PMID:22983634
RGD:2306985 , RGD:8548844
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cd163
CD163 molecule
exacerbates
ISO
CTD Direct Evidence: marker/mechanism associated with hepatitis C, human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human)
CTD RGD
PMID:29035695 PMID:26554542
RGD:149735574
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
G
Cd36
CD36 molecule
ISO IMP
associated with Diabetes Mellitus, Type 2 CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14640889 PMID:15231693 PMID:25477422 PMID:12923231 PMID:11175782
RGD:2307217 , RGD:11041132 , RGD:11040926 , RGD:68930
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
G
Cd40
CD40 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd68
Cd68 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cers1
ceramide synthase 1
ameliorates
ISO
RGD
PMID:30605666
RGD:156431060
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
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Cnr1
cannabinoid receptor 1
IMP
associated with Obesity
RGD
PMID:19553924
RGD:2314662
NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
G
Cntf
ciliary neurotrophic factor
TAS
possible therapeutic agent
RGD
PMID:16675997
RGD:1626122
NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877
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Coq2
coenzyme Q2, polyprenyltransferase
IEP
associated with obesity
RGD
PMID:26296322
RGD:10755343
NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
G
Cpb2
carboxypeptidase B2
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma
RGD
PMID:11836301
RGD:2313645
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
G
Cpe
carboxypeptidase E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15358678
NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233
G
Cst3
cystatin C
ISO
associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human)
RGD
PMID:19765773
RGD:2314305
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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Ctf1
cardiotrophin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21803294
NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
G
Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
DNA:SNP:CDS: rs12794714|rs10766197 (human)
RGD
PMID:34906413
RGD:401900724
NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
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Dgat2
diacylglycerol O-acyltransferase 2
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
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Dio2
iodothyronine deiodinase 2
ISO
DNA:SNP: :rs225014, p.T92A (human)
RGD
PMID:11872697
RGD:2313698
NCBI chr 6:109,665,523...109,679,809
Ensembl chr 6:109,665,523...109,679,809
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Drd1
dopamine receptor D1
IEP
associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule
RGD
PMID:15798088
RGD:2302119
NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
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Ech1
enoyl-CoA hydratase 1
treatment
ISO
RGD
PMID:31961704
RGD:21408561
NCBI chr 1:84,114,494...84,120,788
Ensembl chr 1:84,112,751...84,120,795
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22238402
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
DNA:polymorphism:K121Q ClinVar Annotator: match by term: Insulin resistance, susceptibility to
ClinVar RGD
PMID:10480624 PMID:11739459 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:16025115 PMID:16607460 PMID:16968801 PMID:18950909 PMID:20981035 PMID:25741868 PMID:27238374 PMID:28492532 PMID:29979387 PMID:35738466 PMID:10480624 More...
RGD:1601043
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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F7
coagulation factor VII
severity
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
RGD
PMID:9187410
RGD:2312406
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Fabp2
fatty acid binding protein 2
no_association
ISO
DNA:SNP:CDS:p.A54T (human) ClinVar Annotator: match by term: FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF DNA:polymorphism:CDS:p.A54T (human) DNA:polymorphism:CDS:amino acid A54T, in healthy, moderately overweight subjects in Baton Rouge
ClinVar RGD
PMID:7883976 PMID:9253345 PMID:10946885 PMID:10999802 PMID:12161503 PMID:14666368 PMID:15572430 PMID:25741868 PMID:7883976 PMID:17211557 PMID:14981227 PMID:16311100 More...
RGD:1300314 , RGD:1626407 , RGD:1626400 , RGD:1578456
NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089
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Fabp3
fatty acid binding protein 3
severity
ISO
RGD
PMID:16249436
RGD:1578459
NCBI chr 5:142,651,962...142,658,707
Ensembl chr 5:142,651,956...142,658,718
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Fabp4
fatty acid binding protein 4
IEP
RGD
PMID:17391165
RGD:1625407
NCBI chr 2:91,580,879...91,585,567
Ensembl chr 2:91,580,885...91,585,578
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Fanca
FA complementation group A
ISO
RGD
PMID:22482891
RGD:11046266
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Fancc
FA complementation group C
ISO
RGD
PMID:22482891
RGD:11046266
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
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Fas
Fas cell surface death receptor
treatment
IEP
associated with hypothalamic disease
RGD
PMID:29522769
RGD:13792596
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fasn
fatty acid synthase
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
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Fgf19
fibroblast growth factor 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28673684
NCBI chr 1:200,056,526...200,060,980
Ensembl chr 1:200,056,644...200,060,287
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Fis1
fission, mitochondrial 1
IEP
protein:increased expression:liver (rat)
RGD
PMID:24663492
RGD:12453042
NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377
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Foxc2
forkhead box C2
ISO
DNA:polymorphism:5'ut:-512C>T
RGD
PMID:12453913
RGD:1601219
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
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Foxo1
forkhead box O1
IEP
mRNA:increased expression:adipose tissue:
RGD
PMID:16041833
RGD:1599150
NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO IEP
associated with diabetes mellitus;DNA:SNP: :rs9939609 (human) mRNA, protein:increased expression:liver DNA:SNPs, haplotype: :rs1121980, rs1558902, rs9939609 (human) associated with obesity;DNA:SNP:intron:rs17817449 (human)
RGD
PMID:30273662 PMID:35945320 PMID:20075932 PMID:21919686
RGD:329812018 , RGD:329951016 , RGD:329853775 , RGD:329812040
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Fxn
frataxin
ISO
DNA:repeats:intron:GAA (human)
RGD
PMID:10969848
RGD:2307049
NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540
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G6pd
glucose-6-phosphate dehydrogenase
IEP
associated with Obesity;protein:increased expression:pancreas
RGD
PMID:23015612
RGD:10449129
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Gck
glucokinase
IEP
protein:increased expression:pancreatic islet
RGD
PMID:19039094
RGD:7488970
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
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Gfpt1
glutamine fructose-6-phosphate transaminase 1
ISO
RGD
PMID:11118009
RGD:1625423
NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471
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Gh1
growth hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21559284
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17062894
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Gnb3
G protein subunit beta 3
ISO
DNA:polymorphism: :825C>T (human)
RGD
PMID:12624279
RGD:1580411
NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
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Gpam
glycerol-3-phosphate acyltransferase, mitochondrial
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639
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Gpr17
G protein-coupled receptor 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34144038
NCBI chr18:23,576,232...23,583,153
Ensembl chr18:23,577,242...23,582,966
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Gpx3
glutathione peroxidase 3
ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma
CTD RGD
PMID:19270708 PMID:24361363
RGD:401827920
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Grk2
G protein-coupled receptor kinase 2
ISO
RGD
PMID:15994203
RGD:1625791
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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Gsta4
glutathione S-transferase alpha 4
ISO
mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human)
RGD
PMID:20150287
RGD:5687771
NCBI chr 8:79,066,967...79,084,193
Ensembl chr 8:79,066,934...79,084,182
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Gys1
glycogen synthase 1
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human)
RGD
PMID:9267990
RGD:2313176
NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292
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Hamp
hepcidin antimicrobial peptide
IEP
mRNA:decreased expression:liver
RGD
PMID:17350134
RGD:1601515
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Hmga1
high mobility group AT-hook 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23512162
NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:18375438 PMID:19171794 PMID:12941774
RGD:1601621
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hnf1a
HNF1 homeobox A
ISO
mRNA:decreased expression:adipocyte ClinVar Annotator: match by term: SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF
ClinVar RGD
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: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:20031592 PMID:24728327 PMID:24933231 PMID:25741868 PMID:26467025 PMID:27130141 PMID:28492532 PMID:29895593 PMID:31109344 PMID:33363396 PMID:35328643 PMID:15094374 More...
RGD:1601482
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21786805
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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Hspd1
heat shock protein family D (Hsp60) member 1
IEP
RGD
PMID:18948349
RGD:10402862
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Htr2a
5-hydroxytryptamine receptor 2A
ISO
associated with Peripheral Vascular Diseases
RGD
PMID:17062970
RGD:1624367
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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Icam1
intercellular adhesion molecule 1
ISO
associated with Obesity;protein:increased secretion:plasma (human) protein:increased expression:serum
RGD
PMID:11782876 PMID:19394054
RGD:1625753 , RGD:2313467
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Igf2bp2
insulin-like growth factor 2 mRNA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr11:78,874,402...78,974,392
Ensembl chr11:78,874,414...78,974,377
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Igfals
insulin-like growth factor binding protein, acid labile subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17726072
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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Igfbp2
insulin-like growth factor binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22537059 PMID:17259371
RGD:1626479
NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937
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Igfbp3
insulin-like growth factor binding protein 3
ISO
RGD
PMID:17237715
RGD:2313762
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Igfbp6
insulin-like growth factor binding protein 6
ISO
human transgene overexpressed in mouse brain
RGD
PMID:15889232
RGD:2301717
NCBI chr 7:133,276,309...133,280,944
Ensembl chr 7:133,276,234...133,280,966
G
Igfbp7
insulin-like growth factor binding protein 7
ISO
protein:increased expression:serum associated with metabolic dysfunction-associated steatotic liver disease
RGD
PMID:16873698 PMID:31397492
RGD:1626516 , RGD:401960873
NCBI chr14:30,737,414...30,797,317
Ensembl chr14:30,737,164...30,797,314
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Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29036520 PMID:19073766
RGD:7495768
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
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Il18
interleukin 18
treatment
ISO
associated with Graves Disease
RGD
PMID:23257837 PMID:16732281
RGD:8655938 , RGD:14695532
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
treatment
ISO IEP
associated with Obesity;mRNA:increased expression:adipose tissue associated with hypothalamic disease
RGD
PMID:16865359 PMID:29522769
RGD:1626632 , RGD:13792596
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il6
interleukin 6
IDA IEP
associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat) mRNA:increased expression:islet of Langerhans
RGD
PMID:19328014 PMID:21826222
RGD:2307252 , RGD:10402828
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il6r
interleukin 6 receptor
ISO
protein:decreased expression:serum
RGD
PMID:14962155
RGD:1625431
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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Il7
interleukin 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20376352
NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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Inppl1
inositol polyphosphate phosphatase-like 1
IMP
associated with Metabolic Syndrome X
RGD
PMID:17327370 PMID:12453826
RGD:2312440 , RGD:2312442
NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500
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Ins1
insulin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19586609
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11522680 PMID:24648896 PMID:25796170 PMID:33651899 PMID:3322910
RGD:2311112
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Insr
insulin receptor
disease_progression treatment
ISO IEP
ClinVar Annotator: match by term: Insulin resistance | ClinVar Annotator: match by term: Insulin-resistance syndrome type A mRNA, protein:decreased expression:liver (rat) CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1314826 PMID:1644241 PMID:1890161 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 PMID:2121734 PMID:2203761 PMID:2211730 PMID:2365819 PMID:2460770 PMID:2544997 PMID:2544998 PMID:2662406 PMID:2859121 PMID:2983222 PMID:3283938 PMID:3384956 PMID:3510919 PMID:6339538 PMID:7042734 PMID:7657032 PMID:8096518 PMID:8202531 PMID:8257688 PMID:8288049 PMID:8314008 PMID:8432414 PMID:8900242 PMID:10084586 PMID:10933564 PMID:10949030 PMID:11463381 PMID:11887975 PMID:13302174 PMID:15161766 PMID:19135752 PMID:22775283 PMID:23705494 PMID:24033266 PMID:25741868 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:28765322 PMID:30663027 PMID:31989990 PMID:35000900 PMID:10949030 PMID:26300412 PMID:23538485 More...
RGD:1302523 , RGD:11529553 , RGD:10403037
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Irs1
insulin receptor substrate 1
ISO
DNA:polymorphism:exon:G972R CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Insulin resistance, susceptibility to
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 PMID:7623569 More...
RGD:1624973
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
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Irs2
insulin receptor substrate 2
ISO
DNA:polymorphism:exon:G1057D CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25808216 PMID:15811564
RGD:1625025
NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
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Itgam
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9032110
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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Kcnmb1
potassium calcium-activated channel subfamily M regulatory beta subunit 1
IEP
mRNA, protein:decreased expression:aorta, mesenteric artery
RGD
PMID:21425425
RGD:10412047
NCBI chr10:18,557,510...18,614,824
Ensembl chr10:18,557,904...18,565,798
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Klf11
KLF transcription factor 11
ISO
RGD
PMID:18505768
RGD:2311539
NCBI chr 6:41,285,699...41,297,548
Ensembl chr 6:41,285,842...41,297,550
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Klf14
KLF transcription factor 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29632379
NCBI chr 4:59,554,011...59,556,933
Ensembl chr 4:59,554,011...59,556,933
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Klk1
kallikrein 1
ISO
RGD
PMID:17272402
RGD:1641794
NCBI chr 1:94,642,644...94,646,760
Ensembl chr 1:94,642,687...94,646,754
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Klk1c12
kallikrein 1-related peptidase C12
ISO
RGD
PMID:17272402
RGD:1641794
NCBI chr 1:94,378,103...94,382,140
Ensembl chr 1:94,378,054...94,382,176
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Lep
leptin
IEP ISO IMP
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism|therapeutic DNA:nonsense mutation:cds: associated with Obesity
CTD RGD
PMID:10753628 PMID:11342529 PMID:24150608 PMID:29650965 PMID:19296906 PMID:23800849 PMID:19419916 More...
RGD:5128697 , RGD:8549777 , RGD:2311127
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepm1Kyo
leptin; ENU induced mutant1, Kyo
IMP
RGD
PMID:23800849
RGD:8549777
G
Lepr
leptin receptor
ISO IAGP
associated with Obesity;DNA:polymorphism: :p.K656N (human) CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K656N (human)
CTD RGD
PMID:19452630 PMID:20567778 PMID:25367288 PMID:28611668 PMID:29988851 PMID:30689673 PMID:18413223 PMID:23154293 PMID:18632178 More...
RGD:2311142 , RGD:13432147 , RGD:2311138
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Leprfa
leptin receptor; fa mutant
IAGP
RGD
PMID:23154293
RGD:13432147
G
Lipc
lipase C, hepatic type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15504970
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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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 More...
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Lpin1
lipin 1
ISO
RGD
PMID:17563064
RGD:1641822
NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097
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Lpl
lipoprotein lipase
ISO
RGD
PMID:18952837
RGD:2313300
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Lta
lymphotoxin alpha
no_association
ISO
DNA:polymorphism
RGD
PMID:9245742
RGD:1625035
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
G
Mapk3
mitogen activated protein kinase 3
treatment
IDA
associated with polycystic ovary syndrome
RGD
PMID:23349861
RGD:13800789
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Mc4r
melanocortin 4 receptor
ISO IEP IMP
CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expression:liver (rat) DNA:nonsense mutation:cds:p.K314X (rat)
CTD RGD
PMID:18454146 PMID:35945320 PMID:24400148
RGD:329951016 , RGD:13825242
NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
G
Mc4rm1Hubr
melanocortin 4 receptor; ENU induced mutation 1, Hubr
IMP
DNA:nonsense mutation:cds:p.K314X
RGD
PMID:24400148
RGD:13825242
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Metrnl
meteorin-like, glial cell differentiation regulator
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30213948
NCBI chr10:106,963,880...106,977,875
Ensembl chr10:106,963,880...106,977,869
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Mettl14
methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821
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Mfn2
mitofusin 2
treatment
IEP
RGD
PMID:24715199
RGD:13204838
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mif
macrophage migration inhibitory factor
ISO
protein:increased expression:plasma
RGD
PMID:12552367
RGD:1641955
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 Ensembl chr 4:12,790,902...12,799,504
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Mir125a
microRNA 125a
ISO
RGD
PMID:31988048
RGD:21403676
NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
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Mir155
microRNA 155
ISO
miRNA:increased expression:serum
RGD
PMID:29479888 PMID:27711113
RGD:24922220 , RGD:25671464
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir222
microRNA 222
ISO
associated with polycystic ovary syndrome; RNA:increased expression:blood
RGD
PMID:33230470
RGD:151893462
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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Mlxipl
MLX interacting protein-like
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
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Mlycd
malonyl-CoA decarboxylase
treatment
IEP
RGD
PMID:26394137
RGD:329955565
NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
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Mrc1
mannose receptor, C type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29035695
NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857
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Nampt
nicotinamide phosphoribosyltransferase
ISO
associated with Polycystic Ovary Syndrome;protein:increased expression:serum
RGD
PMID:17582143
RGD:1642341
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
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Neil1
nei-like DNA glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21285402
NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
associated with obesity; protein:decreased expression:hepatocyte: CTD Direct Evidence: therapeutic
CTD RGD
PMID:33933676 PMID:32102936
RGD:21201281
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nlrp3
NLR family, pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35226250
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nos2
nitric oxide synthase 2
IEP ISO
mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat)
RGD
PMID:22023455 PMID:21846719
RGD:5509041 , RGD:5509075
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
treatment
IEP ISO
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:11457755 PMID:12716763 PMID:12947532 PMID:19008412 PMID:18298918 PMID:28946194 More...
RGD:2292098 , RGD:13450950
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nppb
natriuretic peptide B
ISO
associated with Obesity and Hypertension;protein:decreased expression:serum
RGD
PMID:17392814
RGD:1642192
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
susceptibility
ISO
RGD
PMID:16557297
RGD:1625076
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Nr4a1
nuclear receptor subfamily 4, group A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17785466
NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
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Nr4a3
nuclear receptor subfamily 4, group A, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17785466
NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733
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Nus1
NUS1 dehydrodolichyl diphosphate synthase subunit
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33812996
NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
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Parl
presenilin associated, rhomboid-like
IEP
mRNA:decreased expression:gastrocnemius (rat)
RGD
PMID:19859837
RGD:12880442
NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
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Pdx1
pancreatic and duodenal homeobox 1
ISO IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:pancreatic islet (mouse) protein:increased expression:pancreatic duct (rat)
RGD
PMID:18288891 PMID:16046294
RGD:2311222 , RGD:2311223
NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO IDA
CTD Direct Evidence: marker/mechanism associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta
CTD RGD
PMID:14714311 PMID:17283057 PMID:16332940 PMID:10426374
RGD:1625211 , RGD:1625212 , RGD:1625262
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Pklr
pyruvate kinase L/R
treatment
ISO IEP
mRNA, protein:decreased expression:liver
RGD
PMID:12958186 PMID:26394137
RGD:1625583 , RGD:329955565
NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
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Pla2g1b
phospholipase A2 group IB
susceptibility
ISO
RGD
PMID:12376327
RGD:1302550
NCBI chr12:41,142,193...41,151,967
Ensembl chr12:41,142,200...41,153,226
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Plac8
placenta associated 8
IEP
associated with obesity
RGD
PMID:26296322
RGD:10755343
NCBI chr14:9,052,601...9,074,264
Ensembl chr14:9,063,048...9,074,264
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Plekhs1
pleckstrin homology domain containing S1
IEP
associated with obesity;
RGD
PMID:27523322
RGD:11532750
NCBI chr 1:255,495,634...255,525,353
Ensembl chr 1:255,495,634...255,525,353
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Plin2
perilipin 2
ISO
associated with Obesity
RGD
PMID:17484887
RGD:1625752
NCBI chr 5:101,156,648...101,211,738
Ensembl chr 5:101,154,411...101,242,319
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Pltp
phospholipid transfer protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754275
NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647
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Pmch
pro-melanin-concentrating hormone
IDA
RGD
PMID:16002548
RGD:1642484
NCBI chr 7:22,511,934...22,513,250
Ensembl chr 7:22,511,934...22,513,250
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Pon1
paraoxonase 1
ISO
DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001)
RGD
PMID:11788650
RGD:1642617
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:16168052 PMID:21324916 PMID:19322024
RGD:5683642
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Ppard
peroxisome proliferator-activated receptor delta
ISO
associated with Obesity associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:14676330 PMID:19818749
RGD:2324897 , RGD:2313780
NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
DNA:nonsense mutation CTD Direct Evidence: therapeutic
CTD RGD
PMID:16168052 PMID:21354099 PMID:21484566 PMID:12118251
RGD:1601446
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ppargc1a
PPARG coactivator 1 alpha
treatment
ISO IEP
DNA:missense mutation:cds:p.G482S rs8192678 (human) mRNA:decreased expression:liver (rat)
RGD
PMID:23449621 PMID:26394137 PMID:22658649
RGD:7241821 , RGD:329955565 , RGD:7242170
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Ppargc1b
PPARG coactivator 1 beta
treatment
ISO IEP
RGD
PMID:16896940 PMID:26394137
RGD:1642499 , RGD:329955565
NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194
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Ppp1r3a
protein phosphatase 1, regulatory subunit 3A
ISO
DNA:nonsense mutation ClinVar Annotator: match by term: Insulin resistance, susceptibility to DNA:polymorphism:exon:p.D905Y (human)
ClinVar RGD
PMID:7581368 PMID:25741868 PMID:12118251 PMID:7581368
RGD:1601446 , RGD:1601468
NCBI chr 4:42,937,353...42,980,195
Ensembl chr 4:42,939,599...42,980,638
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Prdx3
peroxiredoxin 3
IEP
associated with obesity;
RGD
PMID:27523322
RGD:11532750
NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
IDA ISO
associated with Obesity CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19934007 PMID:22231922
RGD:6484545
NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
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Prkaa2
protein kinase AMP-activated catalytic subunit alpha 2
susceptibility
ISO
DNA:SNPs CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19934007 PMID:16567511
RGD:1625266
NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29367455
NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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Prkcb
protein kinase C, beta
IDA
RGD
PMID:12665248
RGD:1625515
NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
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Prkcd
protein kinase C, delta
IEP ISO
protein:altered localization:nucleus associated with Obesity;protein:increased activity:adipocyte
RGD
PMID:12217885 PMID:15507533
RGD:729667 , RGD:1642527
NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
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Prkcq
protein kinase C, theta
IEP
associated with Obesity;protein:decreased expression:skeletal muscle protein:altered localization:skeletal muscle
RGD
PMID:10923637 PMID:9000691
RGD:1625603 , RGD:1625604
NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
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Prkcz
protein kinase C, zeta
ISO
RGD
PMID:12882908
RGD:1642650
NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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Prkd1
protein kinase D1
susceptibility
ISO
human gene in a mouse model
RGD
PMID:25173922
RGD:307436943
NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
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Prl
prolactin
ISO
associated with Hyperprolactinemia
RGD
PMID:3888755
RGD:1642560
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Prmt7
protein arginine methyltransferase 7
ISO
ClinVar Annotator: match by term: Insulin resistance
ClinVar
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392
NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
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Pten
phosphatase and tensin homolog
IDA ISO
protein:increased expression, decreased acetylation:liver protein:increased activity:liver (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18303120 PMID:18385463 PMID:24367090
RGD:2292521 , RGD:127285595
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptgds
prostaglandin D2 synthase
susceptibility
ISO
RGD
PMID:15970590
RGD:1642581
NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
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Ptgis
prostaglandin I2 synthase
IEP
protein:decreased activity:aorta (rat)
RGD
PMID:16528409
RGD:401960098
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Ptk2b
protein tyrosine kinase 2 beta
ISO
associated with Obesity
RGD
PMID:16039993
RGD:1642605
NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282
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Ptpn1
protein tyrosine phosphatase, non-receptor type 1
ISO IEP
DNA:insertion:3'utr:1484insG associated with congestive heart failure;protein:increased expression, increased activity:heart (rat) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Insulin resistance, susceptibility to
CTD ClinVar RGD
PMID:10744717 PMID:11833006 PMID:11833006 PMID:29929988
RGD:1625240 , RGD:401965403
NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
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Ptprf
protein tyrosine phosphatase, receptor type, F
ISO
mouse model overexpressing human transgene
RGD
PMID:11309481 PMID:9218523
RGD:1642735 , RGD:1642733
NCBI chr 5:131,741,959...131,824,000
Ensembl chr 5:131,742,754...131,810,023
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Pyy
peptide YY
ISO
protein:decreased expression
RGD
PMID:17045646
RGD:1625281
NCBI chr10:87,061,155...87,062,278
Ensembl chr10:87,061,161...87,061,815
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Rb1
RB transcriptional corepressor 1
ISO
mRNA:decreased expression:adipose tissue
RGD
PMID:23315497
RGD:8547988
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Rbp4
retinol binding protein 4
disease_progression ameliorates
ISO IEP
protein:decreased expression:blood serum (human)
RGD
PMID:29747616 PMID:21365528
RGD:329849113 , RGD:329853304
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Rela
RELA proto-oncogene, NF-kB subunit
ISO IEP
protein:altered localization:soleus
RGD
PMID:18198644 PMID:18073321
RGD:2298857 , RGD:2298860
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Retn
resistin
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16493877 PMID:18789551
RGD:2313499
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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Rrad
RRAD, Ras related glycolysis inhibitor and calcium channel regulator
ISO
RGD
PMID:16537411
RGD:2311703
NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417
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Scd
stearoyl-CoA desaturase
treatment
ISO IEP
CTD Direct Evidence: therapeutic
CTD RGD
PMID:21661758 PMID:26394137
RGD:329955565
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Selenop
selenoprotein P
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14714311
NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852
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Serpina1
serpin family A member 1
ISO
RGD
PMID:16752182
RGD:1601202
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpine1
serpin family E member 1
treatment
IEP IDA
mRNA:increased expression:white adipose tissue (rat)
RGD
PMID:19776253 PMID:26188590
RGD:8547949 , RGD:11073726
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpinf1
serpin family F member 1
treatment
ISO IDA
associated with Hypertension human protein in a rat model
RGD
PMID:19073347 PMID:22714715 PMID:24288442
RGD:2312339 , RGD:8655563 , RGD:8642993
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Shc1
SHC adaptor protein 1
ISO
mRNA:increased expression:adipose tissue
RGD
PMID:17986714
RGD:1643171
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
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Si
sucrase-isomaltase
IEP
associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine
RGD
PMID:9878708
RGD:1625544
NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260
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Sirt1
sirtuin 1
treatment
IDA ISO
associated with Obesity CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:20068143 PMID:21321189 PMID:24442997 PMID:25849131 PMID:26026874 PMID:19996381 More...
RGD:9585759
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Sirt4
sirtuin 4
IEP
RGD
PMID:20651844
RGD:9586052
NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439
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Slc27a1
solute carrier family 27 member 1
IDA
protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet
RGD
PMID:17400720
RGD:1642795
NCBI chr16:18,278,984...18,300,173
Ensembl chr16:18,278,984...18,296,063
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Slc27a4
solute carrier family 27 member 4
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:15168018
RGD:1625638
NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
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Slc2a3
solute carrier family 2 member 3
ISO
RGD
PMID:11436180
RGD:1642802
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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Slc2a4
solute carrier family 2 member 4
ISO
associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle CTD Direct Evidence: therapeutic
CTD RGD
PMID:11947963 PMID:18778861
RGD:2313624
NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
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Socs1
suppressor of cytokine signaling 1
ISO
associated with Diabetes Mellitus
RGD
PMID:15240880
RGD:1625677
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Socs3
suppressor of cytokine signaling 3
susceptibility
ISO
associated with Diabetes Mellitus associated with Obesity
RGD
PMID:15240880 PMID:17295835
RGD:1625677 , RGD:2313789
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22829583
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sod3
superoxide dismutase 3
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma
RGD
PMID:15171689
RGD:1625698
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Sorbs1
sorbin and SH3 domain containing 1
susceptibility
ISO
RGD
PMID:17351624
RGD:1642731
NCBI chr 1:239,107,882...239,330,276
Ensembl chr 1:239,108,777...239,330,169
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Sox6
SRY-box transcription factor 6
ISO
RGD
PMID:16148004
RGD:1581307
NCBI chr 1:169,723,306...170,334,846
Ensembl chr 1:169,729,194...170,277,386
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Sqstm1
sequestosome 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33933676
NCBI chr10:34,525,517...34,536,670
Ensembl chr10:34,525,519...34,536,673
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Srebf1
sterol regulatory element binding transcription factor 1
susceptibility treatment
ISO IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP CTD Direct Evidence: marker/mechanism associated with Fatty Liver;mRNA:increased expression:liver
CTD RGD
PMID:22658938 PMID:18692268 PMID:26394137 PMID:17241878
RGD:2308809 , RGD:329955565 , RGD:2308807
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
G
Srebf1_v2
sterol regulatory element binding factor 1, variant 2
IEP
associated with Fatty Liver;mRNA:increased expression:liver
RGD
PMID:17241878
RGD:2308807
G
Srebf2
sterol regulatory element binding transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20699619
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
G
Stk11
serine/threonine kinase 11
IEP
associated with obesity;protein:decreased expression:gastrocnemius
RGD
PMID:16352671
RGD:1601389
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
G
Sts
steroid sulfatase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24497646
NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402
G
Syn1
synapsin I
IEP
RGD
PMID:29566703
RGD:13542091
NCBI chr X:1,172,208...1,227,400
Ensembl chr X:1,172,208...1,227,396
G
Tbc1d4
TBC1 domain family, member 4
ISO
ClinVar Annotator: match by term: Insulin resistance
ClinVar
NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
G
Tcf7l2
transcription factor 7 like 2
ISO
DNA:SNP (human)
RGD
PMID:19509102
RGD:2312433
NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967
G
Tf
transferrin
IEP
protein:increased expression:plasma
RGD
PMID:17350134
RGD:1601515
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
G
Tfap2b
transcription factor AP-2 beta
ISO
RGD
PMID:16373417
RGD:1601544
NCBI chr 9:21,786,251...21,816,054
Ensembl chr 9:21,786,258...21,814,520
G
Thbd
thrombomodulin
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:11453033
RGD:2312460
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
G
Tlr4
toll-like receptor 4
severity
ISO
associated with Obesity protein:increased expression:skeletal muscle
RGD
PMID:19675137 PMID:17426960 PMID:18633101
RGD:2312483 , RGD:1620681 , RGD:2312489
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tnf
tumor necrosis factor
treatment
IDA IMP ISO IEP
associated with obesity CTD Direct Evidence: marker/mechanism associated with Obesity
CTD RGD
PMID:16493877 PMID:20943792 PMID:14764603 PMID:9832430 PMID:25016878
RGD:1580214 , RGD:14995428 , RGD:10450578
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf11b
TNF receptor superfamily member 11B
ISO
associated with obesity;protein:increased expression:serum
RGD
PMID:15936463
RGD:1620889
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression
RGD
PMID:11882518
RGD:1624180
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
G
Trib3
tribbles pseudokinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20461355
NCBI chr 3:140,809,634...140,815,230
Ensembl chr 3:140,809,043...140,814,497
G
Tsc1
TSC complex subunit 1
ISO
RGD
PMID:15380067
RGD:1624197
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
G
Ucp1
uncoupling protein 1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human)
RGD
PMID:16338218
RGD:1624979
NCBI chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852
G
Ucp2
uncoupling protein 2
ISO
DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human)
RGD
PMID:17870627
RGD:2313512
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
G
Ucp3
uncoupling protein 3
ISO
DNA:polymorphism:promoter:-55C>T (human)
RGD
PMID:17870627 PMID:17571165
RGD:2313512 , RGD:2313515
NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
G
Vcam1
vascular cell adhesion molecule 1
ISO
RGD
PMID:11882338
RGD:1580351
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
G
Vdr
vitamin D receptor
ISO
RGD
PMID:25801026
RGD:14402022
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
G
Vwf
von Willebrand factor
ISO
protein:increased expression:plasma
RGD
PMID:16631442
RGD:1625711
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
G
Xbp1
X-box binding protein 1
treatment
ISO IEP
CTD Direct Evidence: therapeutic
CTD RGD
PMID:27325692 PMID:15486293 PMID:26394137
RGD:2326004 , RGD:329955565
NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
G
Zc3h10
zinc finger CCCH type containing 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31775033
NCBI chr 7:973,415...977,742
Ensembl chr 7:972,855...979,349
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Insr
insulin receptor
ISO
ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1644241 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 PMID:2121734 PMID:2203761 PMID:2211730 PMID:2365819 PMID:2460770 PMID:2544997 PMID:2544998 PMID:2662406 PMID:2859121 PMID:2983222 PMID:3283938 PMID:3384956 PMID:3510919 PMID:6339538 PMID:7042734 PMID:7657032 PMID:8096518 PMID:8257688 PMID:8288049 PMID:8314008 PMID:8432414 PMID:8900242 PMID:10084586 PMID:10933564 PMID:11463381 PMID:13302174 PMID:15161766 PMID:19135752 PMID:22775283 PMID:23705494 PMID:24033266 PMID:25741868 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:28765322 PMID:30663027 PMID:31989990 PMID:35000900 More...
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
G
Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: IRAN, TYPE A
ClinVar
PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 More...
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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: Leucine-induced hypoglycemia | ClinVar Annotator: match by term: Leucine-sensitive hypoglycemia of infancy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7908292 PMID:8650576 PMID:8923011 PMID:9382893 PMID:9648840 PMID:10204114 PMID:10426386 PMID:10685980 PMID:10857971 PMID:11867634 PMID:14692646 PMID:14715863 PMID:15356046 PMID:15466080 PMID:15562009 PMID:16357843 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16613899 PMID:16882742 PMID:16885549 PMID:17236890 PMID:17378627 PMID:17466004 PMID:17539904 PMID:17823772 PMID:18025408 PMID:18414213 PMID:18596924 PMID:18796520 PMID:18981553 PMID:19475716 PMID:19766903 PMID:20301549 PMID:20427569 PMID:20685672 PMID:20799350 PMID:20849526 PMID:21142918 PMID:21378087 PMID:21536946 PMID:21674179 PMID:21814221 PMID:21989597 PMID:22151254 PMID:22210575 PMID:22533711 PMID:23067144 PMID:23275527 PMID:23345197 PMID:23563683 PMID:24401662 PMID:24434300 PMID:25008049 PMID:25117148 PMID:25741868 PMID:25871929 PMID:25972930 PMID:26180531 PMID:26431509 PMID:26467025 PMID:27188453 PMID:27538677 PMID:27573238 PMID:27677908 PMID:27908292 PMID:28492532 PMID:28587604 PMID:28757749 PMID:29751826 PMID:30098243 PMID:30193751 PMID:30297969 PMID:30447144 PMID:30515958 PMID:30977832 PMID:31110826 PMID:31464105 PMID:31604004 PMID:32027066 PMID:32041611 PMID:32376986 PMID:32640185 PMID:32670376 PMID:32792356 PMID:32928245 PMID:33046911 PMID:33400071 PMID:34171966 PMID:34194474 PMID:34426522 PMID:34462253 PMID:34777243 PMID:36144251 PMID:36339418 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Leucine-induced hypoglycemia
ClinVar
PMID:16885549 PMID:17466004 PMID:25741868 PMID:28492532
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Gcgr
glucagon receptor
ISO ISS
ClinVar Annotator: match by term: GCGR-related condition | ClinVar Annotator: match by term: GCGR-related hyperglucagonemia
OMIM ClinVar MouseDO
PMID:19657311 PMID:25695890 PMID:25741868 PMID:27933176 PMID:28492532 PMID:30032256 PMID:30294546 PMID:32785645 More...
NCBI chr10:105,808,474...105,816,641
Ensembl chr10:105,808,473...105,816,640
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abca1
ATP binding cassette subfamily A member 1
susceptibility
ISO
DNA:SNP:exon:p.R230C (rs9282541) (human)
RGD
PMID:17287470
RGD:1601092
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
G
Acaca
acetyl-CoA carboxylase alpha
ameliorates
ISO IEP
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438 PMID:27821167
RGD:329333017 , RGD:401799622
NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
G
Acacb
acetyl-CoA carboxylase beta
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438
RGD:329333017
NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655
G
Acadvl
acyl-CoA dehydrogenase, very long chain
treatment
IDA
RGD
PMID:25191539
RGD:10047118
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
G
Acat2
acetyl-CoA acetyltransferase 2
susceptibility
ISO
DNA:polymorphism
RGD
PMID:14557872
RGD:1581921
NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human) CTD Direct Evidence: marker/mechanism associated with vascular diseases; protein:decreased expression:plasma protein:decreased expression:serum
CTD RGD
PMID:16793964 PMID:17618945 PMID:18162013 PMID:20833989 PMID:19690575 PMID:17893004 PMID:21625822 PMID:21976521 More...
RGD:2313234 , RGD:5686800 , RGD:5686428 , RGD:5686407
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
G
Adrb2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphisms: :p.R16G, p.Q27E
RGD GAD
PMID:14557466 PMID:15118671
RGD:1601127 , RGD:1331525
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
G
Agt
angiotensinogen
IEP
mRNA, protein:increased expression:adipose tissue
RGD
PMID:17260464
RGD:1601134
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
G
Agtr1a
angiotensin II receptor, type 1a
susceptibility
ISO
DNA:snp:3' utr:c.5186A>C
RGD
PMID:17211857
RGD:1601146
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
G
Akp3
alkaline phosphatase 3, intestine, not Mn requiring
ISO
RGD
PMID:23569246
RGD:14349049
NCBI chr 9:87,804,680...87,808,715
Ensembl chr 9:87,804,749...87,807,913
G
Aldoa
aldolase, fructose-bisphosphate A
IEP
mRNA:increased expression:aorta
RGD
PMID:21890532
RGD:13673877
NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
G
Alpl
alkaline phosphatase, biomineralization associated
susceptibility
ISO
protein:increased expression:serum
RGD
PMID:16249437
RGD:1601174
NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
G
Apoa1
apolipoprotein A1
ISO
protein:decreased expression:serum (human) DNA: polymorphism: :G2, G3 and G5
RGD
PMID:17217166 PMID:21410987
RGD:1601183 , RGD:5508220
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
G
Apoa2
apolipoprotein A2
ISO
protein:decreased expression:serum
RGD
PMID:19817643
RGD:2313955
NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
G
Apoa5
apolipoprotein A5
susceptibility
ISO
DNA:polymorphism: :p.S19W (human)
RGD
PMID:18789138
RGD:2313315
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
G
Apob
apolipoprotein B
ISO
protein:increased expression:plasma
RGD
PMID:16828905
RGD:1601198
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
G
Apoc3
apolipoprotein C3
susceptibility
ISO
protein:increased expression:serum (human) DNA:polymorphism:promoter:-482C>T, -455T>C
RGD
PMID:16298371 PMID:17416293
RGD:2306766 , RGD:1601223
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
G
Apom
apolipoprotein M
ISO
protein:decreased expression:plasma
RGD
PMID:19539616
RGD:2314236
NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550
G
Atm
ATM serine/threonine kinase
ISO
RGD
PMID:17084711
RGD:1601248
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Atp12a
ATPase H+/K+ transporting non-gastric alpha2 subunit
IEP
RGD
PMID:23320804
RGD:13838660
NCBI chr15:30,443,571...30,468,229
Ensembl chr15:30,443,571...30,468,229
G
Bche
butyrylcholinesterase
ISO
protein:increased expression:serum
RGD
PMID:15907830
RGD:1601317
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
G
Bdnf
brain-derived neurotrophic factor
ISO
RGD
PMID:11935372
RGD:1580935
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
G
Bglap
bone gamma-carboxyglutamate protein
ISO
protein:decreased expression:serum
RGD
PMID:21760737
RGD:6483594
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
G
C3
complement C3
ISO
RGD
PMID:16488421
RGD:2314030
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
Capn10
calpain 10
ISO
DNA:polymorphism
RGD
PMID:16546286
RGD:1625050
NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
G
Cck
cholecystokinin
ISO
RGD
PMID:17443025
RGD:1625798
NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
G
Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16188961 PMID:18486454
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl5
C-C motif chemokine ligand 5
IEP
protein:increased secretion:plasma (rat)
RGD
PMID:19905967
RGD:4889977
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Cd163
CD163 molecule
susceptibility
ISO
protein:increased expression:blood serum (human)
RGD
PMID:31027316
RGD:127345132
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
G
Cd36
CD36 molecule
ISO IAGP
DNA:SNPs: :multiple (human)
RGD
PMID:18305138 PMID:9916795
RGD:2307208 , RGD:619666
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:16423632 PMID:20006362
RGD:2314214 , RGD:5490591
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
G
Cela2a
chymotrypsin like elastase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31358993
NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
G
Chek2
checkpoint kinase 2
IEP
mRNA:increased expression:heart left ventricle (rat)
RGD
PMID:25129990
RGD:10400905
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
G
Ciita
class II, major histocompatibility complex, transactivator
ISO
DNA:polymorphism:promoter:-168A>G (human)
RGD
PMID:17183695
RGD:5491201
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
G
Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16644639 PMID:21357282
RGD:6482318
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Cst3
cystatin C
ISO
protein:increased expression:serum (human)
RGD
PMID:19887833
RGD:2314295
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
G
Cyba
cytochrome b-245 alpha chain
IEP
RGD
PMID:16741160
RGD:2317864
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
G
Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
susceptibility
ISO
DNA:polymorphism:promoter:-344C>T (human)
RGD
PMID:17261471
RGD:2307294
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
G
Cyp11b3
cytochrome P450, family 11, subfamily b, polypeptide 3
susceptibility
ISO
DNA:polymorphism:promoter:-344C>T (human)
RGD
PMID:17261471
RGD:2307294
NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
G
Cyp7a1
cytochrome P450 family 7 subfamily A member 1
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
G
Ddr1
discoidin domain receptor tyrosine kinase 1
ISO
RGD
PMID:32360427
RGD:151347874
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
G
Dgat1
diacylglycerol O-acyltransferase 1
treatment
ISO
RGD
PMID:21990351
RGD:10401057
NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
G
Dio2
iodothyronine deiodinase 2
ISO
DNA:polymorphism: :p.T92A (human)
RGD
PMID:18198294
RGD:2313696
NCBI chr 6:109,665,523...109,679,809
Ensembl chr 6:109,665,523...109,679,809
G
Ephx2
epoxide hydrolase 2
IMP
RGD
PMID:22007192
RGD:5688391
NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
G
F3
coagulation factor III, tissue factor
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:12417540
RGD:2313865
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
G
Fabp2
fatty acid binding protein 2
ISO
RGD
PMID:16919542
RGD:1626401
NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089
G
Fabp4
fatty acid binding protein 4
ISO
protein:increased expression:serum
RGD
PMID:16919044
RGD:1625406
NCBI chr 2:91,580,879...91,585,567
Ensembl chr 2:91,580,885...91,585,578
G
Fadd
Fas associated via death domain
IEP
protein:increased expression:heart left ventricle
RGD
PMID:23657904
RGD:11344884
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
G
Fas
Fas cell surface death receptor
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:11934685
RGD:628329
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Fasn
fatty acid synthase
ameliorates
ISO IEP
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438 PMID:31353547 PMID:27821167
RGD:329333017 , RGD:401850595 , RGD:401799622
NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
G
Fgf19
fibroblast growth factor 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28673684
NCBI chr 1:200,056,526...200,060,980
Ensembl chr 1:200,056,644...200,060,287
G
Fgf21
fibroblast growth factor 21
treatment
ISO
RGD
PMID:25306889
RGD:10401890
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
G
Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO
DNA:SNPs: :rs1421085, rs1558902, rs8050136, rs9939609 (human) DNA:SNP: :rs9939973 (human)
RGD
PMID:21796137 PMID:32061761
RGD:329853776 , RGD:329901771
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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G6pc1
glucose-6-phosphatase catalytic subunit 1
ameliorates
IEP
RGD
PMID:27821167
RGD:401799622
NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
G
G6pd
glucose-6-phosphate dehydrogenase
treatment
IEP
RGD
PMID:19374165 PMID:24868532
RGD:2307350 , RGD:10449117
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Gcg
glucagon
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929
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Gch1
GTP cyclohydrolase 1
treatment
IDA
RGD
PMID:34200262
RGD:329970293
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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Gck
glucokinase
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
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Gckr
glucokinase regulator
ISO
RGD
PMID:19861489
RGD:7242423
NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654
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Ggt1
gamma-glutamyltransferase 1
susceptibility
ISO
RGD
PMID:17095717 PMID:24847614
RGD:1601300 , RGD:14747015
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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Ghrl
ghrelin and obestatin prepropeptide
ISO
DNA:polymorphisms ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to In peritoneal dialysis patients associated with Kidney Diseases;protein:decreased expression:serum
ClinVar RGD
PMID:11502844 PMID:12050239 PMID:12161552 PMID:16204371 PMID:25741868 PMID:16204371 PMID:18552255 PMID:18996292 More...
RGD:1625021 , RGD:7242555 , RGD:2313748
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
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Gpr17
G protein-coupled receptor 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34144038
NCBI chr18:23,576,232...23,583,153
Ensembl chr18:23,577,242...23,582,966
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Gpx3
glutathione peroxidase 3
ISO
protein:increased expression:serum
RGD
PMID:24819036
RGD:401827122
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Gsn
gelsolin
severity
ISO
RGD
PMID:29684438
RGD:329333017
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
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Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:29452132
RGD:14700976
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Hdac3
histone deacetylase 3
IEP
RGD
PMID:21763752
RGD:9590183
NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
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Hgf
hepatocyte growth factor
ISO
RGD
PMID:15713721
RGD:1642702
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Hmga1
high mobility group AT-hook 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23512162
NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ameliorates
IMP ISO IEP
RGD
PMID:19461650 PMID:31353547 PMID:27821167
RGD:5508692 , RGD:401850595 , RGD:401799622
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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Hmox1
heme oxygenase 1
treatment
IEP
RGD
PMID:22193921
RGD:10763276
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
RGD
PMID:16804065
RGD:1601642
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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Hp
haptoglobin
treatment
ISO IDA
protein:increased expression
RGD
PMID:17007284 PMID:20508159
RGD:1626341 , RGD:11041859
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
disease_progression susceptibility
IEP ISO
mRNA:increased expression:ascending aorta,epicardial fat (human) DNA:SNP: (rs12086634)T>G (human) DNA:SNPs:5'utr,enhancer: (rs846910,rs12086634) (human) DNA:SNP:: (rs846910) (human)
RGD
PMID:14697232 PMID:23007990 PMID:23869418 PMID:21622477 PMID:28750217
RGD:1625074 , RGD:329901930 , RGD:329901929 , RGD:329901919 , RGD:329901909
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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Htr2c
5-hydroxytryptamine receptor 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17632216 PMID:18515891 PMID:19142101
NCBI chr X:110,640,777...110,870,288
Ensembl chr X:110,641,153...110,870,287
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum
RGD
PMID:19394054
RGD:2313467
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
susceptibility
ISO
RGD
PMID:31064654
RGD:14985252
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Igf2
insulin-like growth factor 2
IAGP
DNA:insertion
RGD
PMID:18418699
RGD:2311520
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
G
Igfbp2
insulin-like growth factor binding protein 2
ISO
RGD
PMID:16915540
RGD:1626481
NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937
G
Il18
interleukin 18
treatment
IEP ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16644639 PMID:19717152 PMID:24456735
RGD:4889401 , RGD:8655985
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16644639
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Il6r
interleukin 6 receptor
susceptibility
ISO
DNA:polymorphism: :p.D358A
RGD
PMID:16817825
RGD:1625430
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
G
Inppl1
inositol polyphosphate phosphatase-like 1
ISO
DNA:SNPs: :rs2276047,snp8(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15220217 PMID:15220217
RGD:1626127
NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500
G
Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11274935 PMID:16259526
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
G
Insr
insulin receptor
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
G
Irs1
insulin receptor substrate 1
ameliorates
IEP ISO
protein:decreased expression:skeletal muscle
RGD
PMID:10842668 PMID:31353547
RGD:6482864 , RGD:401850595
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
G
Irs2
insulin receptor substrate 2
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
G
Itgav
integrin subunit alpha V
ISO
RGD
PMID:16784924
RGD:1627640
NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639
G
Kl
Klotho
IEP ISO
mRNA:decreased expression:kidney:
RGD
PMID:11027545 PMID:11027545
RGD:10403056 , RGD:10403056
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Lbp
lipopolysaccharide binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23349936
NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586
G
Ldlr
low density lipoprotein receptor
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Lep
leptin
ISO IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma (rat)
CTD RGD
PMID:16793964 PMID:18515891 PMID:19462476 PMID:25380250
RGD:2311125 , RGD:10053625
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Lepr
leptin receptor
IAGP
DNA:mutations:cds: : (rat) DNA:mutations::cds: : (rat)
RGD
PMID:32710530 PMID:10901178 PMID:28746409
RGD:401960103 , RGD:401965414 , RGD:401965413
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Lipe
lipase E, hormone sensitive type
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:29684438
RGD:329333017
NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
G
Lipg
lipase G, endothelial type
ISO
RGD
PMID:16354105
RGD:1580865
NCBI chr18:68,514,923...68,536,105
Ensembl chr18:68,514,923...68,536,260
G
Lmna
lamin A/C
ISO
DNA:SNP: :c.138747C>T (human)
RGD
PMID:15205219
RGD:2306121
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
G
Lrp6
LDL receptor related protein 6
ISO
DNA:missense mutation:cds
RGD
PMID:17332414
RGD:2298725
NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497
G
Lrpap1
LDL receptor related protein associated protein 1
susceptibility
ISO
associated with Coronary Disease;DNA:SNP:exon
RGD
PMID:14557872
RGD:1581921
NCBI chr14:75,651,371...75,663,380
Ensembl chr14:75,651,376...75,665,414
G
Map2k2
mitogen activated protein kinase kinase 2
ISO
mRNA:decreased expression:blood, leukocyte (human)
RGD
PMID:26956845
RGD:155791561
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
G
Mir122
microRNA 122
ISO
miRNA:increased expression:serum
RGD
PMID:27899485
RGD:14401601
NCBI chr18:58,758,703...58,758,787
G
Mlxipl
MLX interacting protein-like
ameliorates
IEP
RGD
PMID:27821167
RGD:401799622
NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
G
Mtmr9
myotubularin related protein 9
ISO
DNA:SNP: :rs2293855 (human)
RGD
PMID:21796137
RGD:329853776
NCBI chr15:37,769,161...37,791,195
Ensembl chr15:37,769,078...37,791,244
G
Mttp
microsomal triglyceride transfer protein
ISO
ClinVar Annotator: match by term: Metabolic syndrome X
ClinVar
PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 PMID:25741868 PMID:27578136 PMID:28492532 PMID:30522860 PMID:33258201 More...
NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
G
Nampt
nicotinamide phosphoribosyltransferase
ISO IAGP
protein:increased expression:plasma DNA:repeats:intron
RGD
PMID:17556870 PMID:15922301
RGD:1642337 , RGD:1642345
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
G
Neil1
nei-like DNA glycosylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16446448 PMID:17389588
NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
G
Ngf
nerve growth factor
ISO
RGD
PMID:11935372
RGD:1580935
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
G
Nnmt
nicotinamide N-methyltransferase
IEP
mRNA,protein:increased expression,increased activity:adipose tissue (rat)
RGD
PMID:25719492
RGD:401793724
NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655
G
Nos3
nitric oxide synthase 3
treatment
ISO IDA IMP
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 More...
RGD:13461762 , RGD:13450928
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Nox1
NADPH oxidase 1
ISO
protein:increased expression, increased activity:peripheral blood mononuclear cell (human)
RGD
PMID:16380495
RGD:1580973
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
G
Nr1h3
nuclear receptor subfamily 1, group H, member 3
ameliorates
IEP
RGD
PMID:27821167
RGD:401799622
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
G
Nr1i2
nuclear receptor subfamily 1, group I, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20869355
NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658
G
Nr1i3
nuclear receptor subfamily 1, group I, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20869355
NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906
G
Pck1
phosphoenolpyruvate carboxykinase 1
ameliorates
IEP
RGD
PMID:27821167
RGD:401799622
NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
G
Pcsk9
proprotein convertase subtilisin/kexin type 9
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
G
Pde9a
phosphodiesterase 9A
treatment
ISO
RGD
PMID:34618683
RGD:242170038
NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
G
Pla2g4a
phospholipase A2 group 4A
IEP
mRNA:decreased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
G
Pla2g6
phospholipase A2 group VI
IEP
mRNA:decreased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
G
Pla2g7
phospholipase A2 group VII
IEP
mRNA:increased expression:liver
RGD
PMID:21172452
RGD:6482748
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
G
Plat
plasminogen activator, tissue type
ISO
protein:increased expression:serum
RGD
PMID:18249307
RGD:2311664
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
G
Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21573798 PMID:14602783
RGD:1642618
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
G
Ppara
peroxisome proliferator activated receptor alpha
ameliorates
IEP ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:11934685 PMID:31353547
RGD:628329 , RGD:401850595
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
G
Pparg
peroxisome proliferator-activated receptor gamma
no_association ameliorates
ISO IDA
DNA:SNP: :p.P12A (human)
RGD
PMID:18959602 PMID:31353547 PMID:16186413 PMID:16183630
RGD:2301843 , RGD:401850595 , RGD:1580686 , RGD:1580683
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
G
Ppargc1a
PPARG coactivator 1 alpha
IEP
mRNA:decreased expression:gastrocnemius muscle (rat)
RGD
PMID:20383225
RGD:10059661
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
G
Prkaa2
protein kinase AMP-activated catalytic subunit alpha 2
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
G
Prl
prolactin
ISO
RGD
PMID:16303834
RGD:1642558
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
G
Ptgs2
prostaglandin-endoperoxide synthase 2
IEP
protein:increased expression:liver
RGD
PMID:17883899
RGD:1642586
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
G
Rbp4
retinol binding protein 4
disease_progression
ISO
protein:increased expression:blood serum (human) associated with obstructive sleep apnea;protein:increased expression:blood plasma (human)
RGD
PMID:19339013 PMID:19003725
RGD:329845591 , RGD:329853307
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
G
Reg1a
regenerating family member 1 alpha
treatment
IDA
RGD
PMID:21685239
RGD:10044029
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
G
Retn
resistin
ISO
DNA:SNP:promoter:-420G>C (rs1862513) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18328350 PMID:17598818
RGD:7207155
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
G
Scd
stearoyl-CoA desaturase
ameliorates
IEP ISO
RGD
PMID:27821167 PMID:31353547
RGD:401799622 , RGD:401850595
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
G
Scg3
secretogranin III
ISO
DNA:SNP: :rs3764220 (human)
RGD
PMID:21796137
RGD:329853776
NCBI chr 8:76,399,777...76,442,015
Ensembl chr 8:76,399,777...76,442,015
G
Selp
selectin P
ISO
RGD
PMID:19061719
RGD:2312292
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
G
Serpina12
serpin family A member 12
treatment
ISO
human protein in a mouse model
RGD
PMID:16030142
RGD:1547845
NCBI chr 6:122,952,552...122,967,271
Ensembl chr 6:122,952,552...122,967,271
G
Serpine1
serpin family E member 1
treatment
IDA
RGD
PMID:26084260
RGD:11073736
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Shbg
sex hormone binding globulin
ISO
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16968811 PMID:17992261 PMID:17884445
RGD:2313785
NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
G
Sim1
SIM bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: SIM1-associated metabolic syndrome
ClinVar
NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212
G
Sirt1
sirtuin 1
treatment
IDA ISO IEP
CTD Direct Evidence: marker/mechanism protein:decreased expression:hippocampus (rat)
CTD RGD
PMID:20068143 PMID:21514307 PMID:25356430
RGD:9585758 , RGD:10053569
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
G
Slc27a1
solute carrier family 27 member 1
susceptibility
ISO
RGD
PMID:16611988
RGD:1642790
NCBI chr16:18,278,984...18,300,173
Ensembl chr16:18,278,984...18,296,063
G
Slc2a1
solute carrier family 2 member 1
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
G
Slc2a4
solute carrier family 2 member 4
ameliorates
ISO
RGD
PMID:31353547
RGD:401850595
NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
G
Soat2
sterol O-acyltransferase 2
susceptibility
ISO
DNA:SNPs
RGD
PMID:14557872
RGD:1581921
NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915
G
Sod2
superoxide dismutase 2
treatment
ISO
RGD
PMID:28875871
RGD:26923956
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Srebf1
sterol regulatory element binding transcription factor 1
disease_progression ameliorates
ISO IEP
protein:increased expression:liver (mouse) mRNA:increased expression:liver (rat)
RGD
PMID:29173234 PMID:31353547 PMID:11934685
RGD:401827867 , RGD:401850595 , RGD:628329
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
G
Tf
transferrin
susceptibility
ISO
protein:increased expression:serum
RGD
PMID:17416791
RGD:1601514
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
G
Tgfb1
transforming growth factor, beta 1
IEP
mRNA:increased expression:left heart ventricle
RGD
PMID:18692559
RGD:2306739
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Thbd
thrombomodulin
ISO
associated with Diabetic Nephropathies;protein:increased expression:plasma
RGD
PMID:16567841
RGD:1601641
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
G
Tnf
tumor necrosis factor
treatment
IEP
RGD
PMID:24441717
RGD:10450604
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
associated with obesity;protein:increased expression:plasma
RGD
PMID:17200772
RGD:1624178
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
G
Trib3
tribbles pseudokinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18497449
NCBI chr 3:140,809,634...140,815,230
Ensembl chr 3:140,809,043...140,814,497
G
Ucp2
uncoupling protein 2
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:11934685
RGD:628329
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
G
Ucp3
uncoupling protein 3
treatment
IEP
RGD
PMID:11934685
RGD:628329
NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
G
Vcam1
vascular cell adhesion molecule 1
IEP
RGD
PMID:18718174
RGD:2313109
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
G
Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:plasma:
RGD
PMID:22206010
RGD:7483588
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Vwf
von Willebrand factor
ISO
protein:increased expression:plasma
RGD
PMID:16764036
RGD:1625709
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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: Neonatal hypoglycemia
ClinVar
PMID:10857971 PMID:16885549 PMID:17466004 PMID:21814221 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Akt2
AKT serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Hypoglycemia, neonatal, simulating foetopathia diabetica
ClinVar
PMID:15166380 PMID:16722806 PMID:17327441 PMID:21518566 PMID:25741868 PMID:28341696 PMID:28492532 More...
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Neonatal hypoglycemia
ClinVar
PMID:16609879 PMID:16885549 PMID:17446535 PMID:17466004 PMID:17635943 PMID:18073297 PMID:18414213 PMID:20301620 PMID:21340152 PMID:23226037 PMID:25741868 PMID:26388896 PMID:27223594 PMID:28492532 PMID:30286572 More...
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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