RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | type 2 diabetes mellitus |
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Accession: | DOID:9352
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browse the term
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Definition: | A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. (DO) |
Synonyms: | exact_synonym: | Diabetes Mellitus, Type II; Diabetes mellitus with hyperinsulinemia; Diabetes mellitus, noninsulin-dependent, late-onset; Ketosis-Resistant Diabetes Mellitus; Maturity Onset Diabetes Mellitus; Maturity-Onset Diabetes; NIDDM; Non-Insulin-Dependent Diabetes Mellitus; Noninsulin-Dependent Diabetes Mellitus; T2D; adult-onset diabetes mellitus; insulin-resistant diabetes mellitus; slow-onset diabetes mellitus; stable diabetes mellitus; type 2 diabetes |
| narrow_synonym: | DIABETES MELLITUS, NONINSULIN-DEPENDENT, MATERNALLY TRANSMITTED; DIABETES MELLITUS, NONINSULIN-DEPENDENT, WITH ACANTHOSIS NIGRICANS AND HYPERTENSION; DIABETES MELLITUS, TYPE II, DIGENIC; INSULIN RESISTANCE, SEVERE, DIGENIC |
| related_synonym: | DIABETES MELLITUS TYPE 2, SUSCEPTIBILITY TO; DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO; HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO; MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO; NEUROD1-RELATED CONDITION; UCP3 polymorphism G/A; diabetes mellitus type 2, protection against; noninsulin-dependent diabetes mellitus, association with |
| primary_id: | MESH:D003924 |
| alt_id: | MIM:125853 |
| xref: | EFO:0001360; EFO:0010164; ICD10CM:E11; MONDO:0005148; NCI:C26747 |
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Aanat |
aralkylamine N-acetyltransferase |
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IDA |
mRNA, protein:increased expression, decreased activity:pineal gland |
RGD |
PMID:16441550 |
RGD:2301037 |
NCBI chr10:101,827,072...101,831,805
Ensembl chr10:101,827,301...101,831,801
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Abca1 |
ATP binding cassette subfamily A member 1 |
onset |
ISO |
DNA:SNP:exon:p.R230C (rs9282541) (human) |
RGD |
PMID:18003760 |
RGD:2312576 |
NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
DNA:polymorphism:exon (human) |
RGD |
PMID:19470683 |
RGD:2312331 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcc2 |
ATP binding cassette subfamily C member 2 |
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IEP ISO |
mRNA: decreased expression: liver protein: increased expression mRNA:decreased expression:liver |
RGD |
PMID:15319330 PMID:18189363 PMID:25152023 |
RGD:2312736, RGD:2312726, RGD:14700811 |
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcc8 |
ATP binding cassette subfamily C member 8 |
susceptibility |
ISO |
DNA:missense mutations: :p.R248Q, p.K1521N, p.Y356C (human) DNA:missense mutation::A1369S (human) DNA:polymorphism:exon: DNA:polymorphism:intron:IVS16-3T>C (human) DNA:polymorphism: :p.S1369A (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus |
OMIM CTD ClinVar RGD |
PMID:1021286 PMID:3202066 PMID:7716548 PMID:8650576 PMID:8751851 PMID:8923011 PMID:9041101 PMID:9382893 PMID:9519757 PMID:9536098 PMID:9568693 PMID:9618169 PMID:9642650 PMID:9648840 PMID:9769320 PMID:9867219 PMID:10194514 PMID:10202168 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685979 PMID:10685980 PMID:10720932 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:12196481 PMID:12199344 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12784138 PMID:12941782 PMID:14593442 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15807877 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:16969006 PMID:17236890 PMID:17257281 PMID:17378627 PMID:17384337 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: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:19766903 PMID:19933268 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:21674179 PMID:21716120 PMID:21738553 PMID:21835061 PMID:21851374 PMID:21968111 PMID:21978130 PMID:21989597 PMID:21992908 PMID:22031516 PMID:22082043 PMID:22151254 PMID:22163043 PMID:22209866 PMID:22210575 PMID:22264780 PMID:22308858 PMID:22533711 PMID:22591706 PMID:22704848 PMID:22749773 PMID:22796691 PMID:22802363 PMID:22802590 PMID:22855730 PMID:22876564 PMID:23067144 PMID:23261959 PMID:23266803 PMID:23273570 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23506826 PMID:23563683 PMID:23652837 PMID:23744072 PMID:23771172 PMID:23798684 PMID:24145932 PMID:24332968 PMID:24401662 PMID:24434300 PMID:24616771 PMID:24622368 PMID:24645945 PMID:24686051 PMID:24750227 PMID:24814349 PMID:24937539 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25518065 PMID:25525159 PMID:25584046 PMID:25639667 PMID:25720052 PMID:25741868 PMID:25765446 PMID:25781672 PMID:25931474 PMID:25972930 PMID:26162674 PMID:26180531 PMID:26208381 PMID:26246406 PMID:26268944 PMID:26316440 PMID:26379717 PMID:26431509 PMID:26467025 PMID:26594346 PMID:26740944 PMID:27065949 PMID:27175728 PMID:27188453 PMID:27538677 PMID:27573238 PMID:27681997 PMID:27682711 PMID:27754802 PMID:27810688 PMID:27889714 PMID:27908292 PMID:27913849 PMID:28018462 PMID:28123437 PMID:28270372 PMID:28346775 PMID:28439221 PMID:28442472 PMID:28492532 PMID:28587604 PMID:28663158 PMID:28701683 PMID:28757749 PMID:28791793 PMID:29082728 PMID:29127764 PMID:29207974 PMID:29644095 PMID:29751826 PMID:29893194 PMID:30098243 PMID:30114684 PMID:30186238 PMID:30191644 PMID:30297969 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30447144 PMID:30462810 PMID:30487145 PMID:30515958 PMID:30753133 PMID:30873120 PMID:30977832 PMID:31110826 PMID:31208162 PMID:31216263 PMID:31218401 PMID:31264968 PMID:31291970 PMID:31464105 PMID:31589614 PMID:31604004 PMID:31727138 PMID:31821855 PMID:31957151 PMID:31997554 PMID:32027066 PMID:32041611 PMID:32170320 PMID:32202736 PMID:32267248 PMID:32376986 PMID:32640185 PMID:32670376 PMID:32792356 PMID:32893419 PMID:32928245 PMID:32934261 PMID:33013711 PMID:33046911 PMID:33240318 PMID:33400071 PMID:33410562 PMID:33477506 PMID:33502730 PMID:33587123 PMID:34055426 PMID:34171966 PMID:34194474 PMID:34304300 PMID:34309670 PMID:34426522 PMID:34462253 PMID:34566892 PMID:34682101 PMID:34764980 PMID:34927408 PMID:35402560 PMID:35475025 PMID:36034573 PMID:36239000 PMID:36339418 PMID:36407475 PMID:38095268 PMID:38513803 PMID:18346985 PMID:15579791 PMID:17259403 PMID:11030411 PMID:18664331 PMID:18599530 More...
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RGD:2301901, RGD:1598640, RGD:2313628, RGD:737749, RGD:2301897, RGD:2301898 |
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Abcg2 |
ATP binding cassette subfamily G member 2 |
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IEP |
mRNA:decreased expression:liver |
RGD |
PMID:25152023 |
RGD:14700811 |
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Acads |
acyl-CoA dehydrogenase short chain |
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ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:18523805 PMID:25741868 PMID:28492532 |
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NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898
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Ace |
angiotensin I converting enzyme |
susceptibility |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
GAD RGD |
PMID:15118671 PMID:24452036 |
RGD:1331525, RGD:8142353 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Acot2 |
acyl-CoA thioesterase 2 |
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IDA |
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RGD |
PMID:16979414 |
RGD:1625728 |
NCBI chr 6:103,611,738...103,619,404
Ensembl chr 6:103,611,544...103,619,245
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Acp1 |
acid phosphatase 1 |
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ISO |
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RGD |
PMID:15281007 |
RGD:2313183 |
NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021
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Acp7 |
acid phosphatase 7, tartrate resistant |
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ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,896,485...83,923,436
Ensembl chr 1:83,898,153...83,920,634
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Actn4 |
actinin alpha 4 |
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ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
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Ada |
adenosine deaminase |
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ISO |
protein:increased expression:serum |
RGD |
PMID:15168879 |
RGD:2313539 |
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Adam17 |
ADAM metallopeptidase domain 17 |
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ISO |
protein:increased activity:artery smooth muscle protein:increased activity:skeletal muscle tissue |
RGD |
PMID:19581416 PMID:19633828 |
RGD:2313250, RGD:2312470 |
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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Adamts9 |
ADAM metallopeptidase with thrombospondin type 1 motif, 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18372903 PMID:23967108 |
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NCBI chr 4:125,290,633...125,462,988
Ensembl chr 4:125,291,490...125,462,929
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Adcy5 |
adenylate cyclase 5 |
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ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20081858 PMID:23202124 PMID:12607610 |
RGD:13464136 |
NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO IEP |
protein:decreased expression:plasma, myocardium: associated with myocardial infarction;protein:decreased expression: : DNA:SNP: :g.45T>G (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12114044 PMID:12354786 PMID:15734870 PMID:19622782 PMID:19708766 PMID:21155820 PMID:16822679 PMID:18472407 PMID:24655058 PMID:28843383 More...
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RGD:2313238, RGD:2313230, RGD:5686359, RGD:5686752, RGD:5686807, RGD:8694412, RGD:14975146 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adipor2 |
adiponectin receptor 2 |
no_association |
ISO |
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RGD |
PMID:18075289 PMID:19631916 PMID:18548168 PMID:18363889 |
RGD:2312490, RGD:2312476, RGD:2312480, RGD:2312486 |
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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Adm |
adrenomedullin |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:17557032 |
RGD:2313313 |
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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Adra2a |
adrenoceptor alpha 2A |
susceptibility |
IEP ISO |
mRNA, protein:increased expression:pancreatic islet DNA:SNP:3' utr:rs553668 (human) |
RGD |
PMID:19965390 PMID:19965390 |
RGD:2316628, RGD:2316628 |
NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
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Adra2b |
adrenoceptor alpha 2B |
onset |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:17039423 PMID:17277585 |
RGD:2313544, RGD:2313543 |
NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355
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Adrb2 |
adrenoceptor beta 2 |
no_association |
ISO |
DNA:polymorphisms: :p.R16G, p.Q27E |
RGD GAD |
PMID:17221209 PMID:15118671 |
RGD:1601119, RGD:1331525 |
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Adrb3 |
adrenoceptor beta 3 |
onset no_association susceptibility |
ISO |
DNA:missense mutation: :p.I62M (human) DNA:missense mutation:cds:p.W64R rs4994 (human) DNA:polymorphism: :p.W64R (human) |
RGD |
PMID:16444766 PMID:19659999 PMID:17727676 |
RGD:2313163, RGD:2313148, RGD:2313149 |
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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Agap2 |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 |
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ISO |
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RGD |
PMID:20068140 |
RGD:13838849 |
NCBI chr 7:62,897,282...62,914,295
Ensembl chr 7:62,897,282...62,914,295
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Ager |
advanced glycosylation end product-specific receptor |
treatment no_association |
ISO IDA IEP |
protein:increased expression:jejunum, intestinal villi (rat) DNA:SNPs:promoter:-374T>A, -429T/C (human) DNA:polymorphisms, deletion:promoter, :-374T>A, -429T>C (human) DNA:SNP: :2245A>G (human) DNA:SNP: :1704G>T, 2184A>G (human) DNA:SNP: :557G>A (rs2070600, p.G82S) (human) |
RGD |
PMID:23630304 PMID:19735169 PMID:23403079 PMID:22154374 PMID:15896660 PMID:11884895 PMID:11884895 PMID:21067572 More...
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RGD:7243184, RGD:7244245, RGD:7244262, RGD:8695962, RGD:8695969, RGD:8695991, RGD:8695991, RGD:8548676 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agrp |
agouti related neuropeptide |
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IEP ISO |
mRNA:decreased expression:hypothalamus DNA:polymorphism:promoter:-38C>T (human) |
RGD |
PMID:18001323 PMID:11554767 |
RGD:2311538, RGD:2314000 |
NCBI chr19:33,447,992...33,481,602
Ensembl chr19:33,447,992...33,449,584
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Agt |
angiotensinogen |
no_association |
ISO |
mRNA, protein:increased expression:smooth muscle cell, carotid artery DNA:polymorphism: :p.T174M, p.M235T (human) |
RGD |
PMID:17170378 PMID:9258285 |
RGD:1601138, RGD:8548863 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr2 |
angiotensin II receptor, type 2 |
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IEP |
mRNA, protein:increased expression:aorta |
RGD |
PMID:18463192 |
RGD:2313550 |
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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G |
Ahi1 |
Abelson helper integration site 1 |
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ISO |
mRNA:increased expression:vastus lateralis |
RGD |
PMID:20045148 |
RGD:11537398 |
NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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Ahsg |
alpha-2-HS-glycoprotein |
susceptibility |
ISO |
DNA:polymorphism: :-469T>G (rs2077119) (human) |
RGD |
PMID:18316360 PMID:18633113 |
RGD:2313812, RGD:2313811 |
NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999
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Ak1 |
adenylate kinase 1 |
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IEP |
protein:increased expression:gastrocnemius muscle (rat) |
RGD |
PMID:20127051 |
RGD:5134362 |
NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
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G |
Akr1b1 |
aldo-keto reductase family 1 member B1 |
susceptibility |
ISO |
DNA:repeat, snp:promoter:g.(AC)n, g.-106C>T (human) |
RGD |
PMID:15569136 |
RGD:8548678 |
NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
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Akt1 |
AKT serine/threonine kinase 1 |
treatment |
ISO IDA IEP |
protein:increased serine phosphorylation:vascular associated smooth muscle cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:31626838 PMID:19289493 PMID:19052261 PMID:24735788 |
RGD:2311130, RGD:2313556, RGD:39128151 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Akt2 |
AKT serine/threonine kinase 2 |
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ISO ISS |
DNA:missense mutation:cds:p.R274H (human) protein:decreased activity, phosphorylation:vastus lateralis (human) ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus |
OMIM ClinVar CTD MouseDO RGD |
PMID:9536098 PMID:15166380 PMID:16722806 PMID:17327441 PMID:17576681 PMID:19164855 PMID:21479466 PMID:21518566 PMID:25157968 PMID:25741868 PMID:28166811 PMID:28341696 PMID:28492532 PMID:32041611 PMID:33848288 PMID:15166380 PMID:18204829 PMID:18972094 PMID:19289493 PMID:11387480 More...
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RGD:2313408, RGD:2313405, RGD:2307342, RGD:2311130, RGD:734545 |
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
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Aldh2 |
aldehyde dehydrogenase 2 family member |
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ISO |
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RGD |
PMID:15563966 |
RGD:2311149 |
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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G |
Aldob |
aldolase, fructose-bisphosphate B |
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IDA ISO IEP |
DNA:SNP:intron: (human) mRNA:decreased expression:soleus (rat) |
RGD |
PMID:19106228 PMID:12646233 PMID:19106228 |
RGD:2313414, RGD:2313434, RGD:2313414 |
NCBI chr 5:63,889,045...63,902,086
Ensembl chr 5:63,889,046...63,902,116
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G |
Alms1 |
ALMS1, centrosome and basal body associated protein |
no_association |
ISO |
DNA:SNPs: :rs1320374, rs1881245, rs3820700 (human) |
RGD |
PMID:16601972 |
RGD:8696017 |
NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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G |
Alox12 |
arachidonate 12-lipoxygenase, 12S type |
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ISO |
protein:decreased activity:platelet (human) |
RGD |
PMID:9500559 |
RGD:2313877 |
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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G |
Angpt2 |
angiopoietin 2 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:15823283 |
RGD:2313815 |
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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G |
Angptl3 |
angiopoietin-like 3 |
|
ISO |
protein:increased expression:liver |
RGD |
PMID:15094378 |
RGD:2314234 |
NCBI chr 5:113,703,007...113,710,044
Ensembl chr 5:113,703,012...113,709,957
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G |
Ankrd23 |
ankyrin repeat domain 23 |
|
IEP |
RNA:altered expression:heart, brown adipose tissue, skeletal muscle tissue |
RGD |
PMID:12456686 |
RGD:2314859 |
NCBI chr 9:38,773,234...38,778,705
Ensembl chr 9:38,773,240...38,779,839
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G |
Aoc3 |
amine oxidase, copper containing 3 |
|
ISO IDA |
protein:increased expression:serum |
RGD |
PMID:14656718 PMID:12663473 PMID:19336232 |
RGD:2313822, RGD:2313823, RGD:2313820 |
NCBI chr10:86,272,757...86,280,702
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G |
Ap3s2 |
adaptor related protein complex 3 subunit sigma 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21874001 |
|
NCBI chr 1:133,818,825...133,859,269
Ensembl chr 1:133,818,825...133,859,322
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G |
Apln |
apelin |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:18484561 |
RGD:2313944 |
NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
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G |
Aplnr |
apelin receptor |
|
ISO |
protein:decreased expression:renal artery |
RGD |
PMID:17692936 |
RGD:2313945 |
NCBI chr 3:70,217,407...70,221,052
Ensembl chr 3:70,217,385...70,221,050
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G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
protein:altered localization:plasma lipoprotein particle protein:increased expression, increased glycation:plasma |
RGD |
PMID:9649952 PMID:18079481 |
RGD:2313961, RGD:7241576 |
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Apoa2 |
apolipoprotein A2 |
|
ISO |
protein:altered localization:plasma lipoprotein particle protein:decreased expression:serum |
RGD |
PMID:9649952 PMID:19817643 |
RGD:2313961, RGD:2313955 |
NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
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G |
Apoa5 |
apolipoprotein A5 |
no_association |
ISO |
DNA:polymorphism: :c.553G>T (human) DNA:polymorphism: :-1131T>C (human) |
RGD |
PMID:17087641 PMID:16039297 PMID:17548321 |
RGD:2313319, RGD:2313321, RGD:2313318 |
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
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G |
Apob |
apolipoprotein B |
treatment |
ISO |
|
RGD |
PMID:18945923 PMID:15161783 |
RGD:2313981, RGD:11354945 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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G |
Apoc1 |
apolipoprotein C1 |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:3757210 |
RGD:2313953 |
NCBI chr 1:79,347,057...79,350,340
Ensembl chr 1:79,346,136...79,350,375
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G |
Apoc2 |
apolipoprotein C2 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:3757210 PMID:12733353 |
RGD:2313953, RGD:2313966 |
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
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G |
Apod |
apolipoprotein D |
|
ISO |
DNA:polymorphism |
RGD |
PMID:15369805 PMID:7895459 |
RGD:2311177, RGD:2311178 |
NCBI chr11:69,431,261...69,452,306
Ensembl chr11:69,431,260...69,452,305
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G |
Apoe |
apolipoprotein E |
|
ISO |
protein:increased expression:pancreatic islet |
RGD GAD |
PMID:18950899 PMID:15118671 |
RGD:2317556, RGD:1331525 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Apoh |
apolipoprotein H |
|
ISO |
|
RGD |
PMID:16126948 |
RGD:2313984 |
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
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G |
Apom |
apolipoprotein M |
susceptibility |
ISO |
DNA:SNP:promoter:g.-778T>C(rs805296)(human) |
RGD |
PMID:16572495 |
RGD:2314248 |
NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550
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G |
Aqp7 |
aquaporin 7 |
|
ISO |
protein:increased expression:skeletal muscle: |
RGD |
PMID:29783856 |
RGD:13782361 |
NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642
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G |
Ar |
androgen receptor |
|
ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
|
|
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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|
G |
Arnt |
aryl hydrocarbon receptor nuclear translocator |
|
ISO |
mRNA:decreased expression:pancreatic islet |
RGD |
PMID:16096055 |
RGD:2313995 |
NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
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G |
Arrb2 |
arrestin, beta 2 |
treatment |
IEP |
|
RGD |
PMID:24337852 |
RGD:13506901 |
NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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G |
Arx |
aristaless related homeobox |
|
IEP |
|
RGD |
PMID:16772326 |
RGD:1599258 |
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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G |
Asip |
agouti signaling protein |
|
ISO ISS |
mRNA:increased expression:adipose tissue OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO RGD |
PMID:14633851 |
RGD:2313999 |
NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
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G |
Asl |
argininosuccinate lyase |
|
ISO |
mRNA:increased expression:leukocyte |
RGD |
PMID:16121806 |
RGD:2314010 |
NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
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G |
Atf3 |
activating transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
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NCBI chr13:102,751,278...102,800,520
Ensembl chr13:102,751,321...102,764,631
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G |
Atp2a1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
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IEP |
|
RGD |
PMID:22009485 |
RGD:6771327 |
NCBI chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838
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G |
Atp2a2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
|
IEP ISO IDA |
mRNA:decreased expression:heart left ventricle CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16123366 PMID:21216827 PMID:22009485 PMID:27222135 |
RGD:6892953, RGD:6771327, RGD:13782085 |
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
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G |
Atp2a3 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
|
NCBI chr10:57,581,742...57,612,758
Ensembl chr10:57,582,128...57,612,748
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G |
Atp5f1b |
ATP synthase F1 subunit beta |
|
IEP |
protein:decreased expression:islet of Langerhans (rat) |
RGD |
PMID:21117707 |
RGD:13792619 |
NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
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G |
Auts2 |
activator of transcription and developmental regulator AUTS2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
|
NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416
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G |
Avp |
arginine vasopressin |
|
IEP |
protein:increased expression:hypothalamus |
RGD |
PMID:17940875 |
RGD:2301922 |
NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
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G |
Axl |
Axl receptor tyrosine kinase |
|
ISO |
|
RGD |
PMID:10528229 |
RGD:2325834 |
NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
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G |
B2m |
beta-2 microglobulin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:15127324 |
RGD:2311236 |
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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G |
Bace2 |
beta-secretase 2 |
treatment |
ISO |
|
RGD |
PMID:28337562 |
RGD:13782177 |
NCBI chr11:36,707,447...36,789,550
Ensembl chr11:36,707,458...36,789,546
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G |
Bad |
BCL2-associated agonist of cell death |
|
IEP |
|
RGD |
PMID:23032698 |
RGD:10053698 |
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:31626838 PMID:22543177 |
RGD:10054139 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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|
G |
Bche |
butyrylcholinesterase |
susceptibility |
ISO |
DNA:polymorphism: :p.A539T (human) |
RGD GAD |
PMID:11793025 PMID:15118671 PMID:16442234 |
RGD:2306782, RGD:1331525, RGD:2306780 |
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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G |
Bcl2 |
BCL2, apoptosis regulator |
|
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16959961 PMID:31626838 PMID:23032698 |
RGD:10053698 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Bcl2l1 |
Bcl2-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16959961 |
|
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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G |
Bcl2l11 |
Bcl2-like 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr 3:115,366,783...115,404,068
Ensembl chr 3:115,366,646...115,404,068
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|
G |
Bdnf |
brain-derived neurotrophic factor |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:17151862 |
RGD:10059350 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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G |
Becn1 |
beclin 1 |
treatment |
IEP |
|
RGD |
PMID:21820301 |
RGD:11561956 |
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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G |
Bglap |
bone gamma-carboxyglutamate protein |
|
ISO |
protein:decreased expression:serum: |
RGD |
PMID:15747054 |
RGD:7207410 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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G |
Bhmt |
betaine-homocysteine S-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23665415 |
|
NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742
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|
G |
Bmal2 |
basic helix-loop-helix ARNT like 2 |
|
ISO |
DNA:SNPs: :rs7950226, rs11022775(human) |
RGD |
PMID:17728404 |
RGD:2314371 |
NCBI chr 4:179,699,432...179,747,710
Ensembl chr 4:179,699,502...179,746,949
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
no_association |
IAGP |
|
RGD |
PMID:12584444 |
RGD:1600600 |
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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G |
Btc |
betacellulin |
susceptibility |
ISO |
DNA:polymorphism:promoter:-226A/G (human) DNA:polymorphism:exon:p.C7G (human) |
RGD |
PMID:16306376 PMID:15793259 |
RGD:2306967, RGD:2306973 |
NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
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G |
C12h12orf43 |
similar to human chromosome 12 open reading frame 43 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:25057215 |
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NCBI chr12:41,672,089...41,677,722
Ensembl chr12:41,672,114...41,677,714
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G |
C17h10orf67 |
similar to human chromosome 10 open reading frame 67 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
|
|
NCBI chr17:82,062,461...82,174,401
Ensembl chr17:82,071,838...82,174,353
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G |
C1h19orf47 |
similar to human chromosome 19 open reading frame 47 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
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G |
C2cd4a |
C2 calcium-dependent domain containing 4A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20818381 |
|
NCBI chr 8:68,467,017...68,469,781
Ensembl chr 8:68,466,664...68,470,031
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G |
C2cd4b |
C2 calcium-dependent domain containing 4B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20818381 |
|
NCBI chr 8:68,372,793...68,396,477
Ensembl chr 8:68,384,847...68,396,328
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G |
C3 |
complement C3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20504758 |
|
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Cacna1d |
calcium voltage-gated channel subunit alpha1 D |
susceptibility |
ISO |
DNA:SNPs: :rs9841978,rs312486(human) mRNA:decreased expression:pancreatic islet: |
RGD |
PMID:23229155 PMID:23229155 |
RGD:13506727, RGD:13506727 |
NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
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G |
Cadm2 |
cell adhesion molecule 2 |
|
ISO |
DNA:SNP: :rs13078807 (human) |
RGD |
PMID:28401323 |
RGD:15092076 |
NCBI chr11:4,548,367...5,525,420
Ensembl chr11:4,555,159...5,525,400
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G |
Calca |
calcitonin-related polypeptide alpha |
|
IEP ISO |
protein:decreased expression:dorsal root ganglion, neuron |
RGD |
PMID:17151309 PMID:19816194 |
RGD:2314035, RGD:2314032 |
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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G |
Calm1 |
calmodulin 1 |
|
IEP |
mRNA:decreased expression:heart |
RGD |
PMID:21216827 |
RGD:6892953 |
NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227
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G |
Capn10 |
calpain 10 |
|
ISO IEP IAGP |
mRNA:increased expression:pancreas mRNA:decreased expression DNA:SNP DNA:polymorphism associated with Hypertension;DNA:SNPs:intron:rs3792267, rs2975760 (human) DNA:SNP:intron:rs2975760 (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23349674 PMID:19688040 PMID:14646187 PMID:14658759 PMID:16721485 PMID:22012129 PMID:20406624 PMID:18554168 More...
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RGD:4107074, RGD:1625063, RGD:737693, RGD:1625049, RGD:7247733, RGD:7247734, RGD:7247735 |
NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
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G |
Capn12 |
calpain 12 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,171,059...84,183,161
Ensembl chr 1:84,171,059...84,183,119
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G |
Cartpt |
CART prepropeptide |
|
IEP |
protein:increased expression:pancreatic B cell |
RGD |
PMID:16443761 |
RGD:2313632 |
NCBI chr 2:31,255,098...31,257,452
Ensembl chr 2:31,255,098...31,290,713
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G |
Casp12 |
caspase 12 |
|
IEP |
|
RGD |
PMID:23032698 |
RGD:10053698 |
NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
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G |
Casp3 |
caspase 3 |
|
ISO |
protein:increased activity:pancreatic B cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15531508 PMID:19100955 |
RGD:2311446 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Casp7 |
caspase 7 |
|
IEP |
|
RGD |
PMID:23032698 |
RGD:10053698 |
NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729
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G |
Casp8 |
caspase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15531508 PMID:17563067 |
RGD:2311429 |
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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G |
Casp9 |
caspase 9 |
|
ISO |
DNA:SNP (human) |
RGD |
PMID:16038259 |
RGD:2311246 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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|
G |
Casq1 |
calsequestrin 1 |
no_association |
ISO |
DNA:snp: :rs617698(human) DNA:snps: :multiple DNA:snp: :rs2275703(human) |
RGD |
PMID:18269685 PMID:15561963 PMID:15561962 PMID:17681849 |
RGD:2314133, RGD:2314135, RGD:2314136, RGD:2314134 |
NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339
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G |
Cat |
catalase |
|
ISO |
protein:decreased activity:plasma: CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:15111504 PMID:15531508 PMID:12357295 |
RGD:9068922 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Cbs |
cystathionine beta synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23665415 |
|
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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G |
Ccdc92 |
coiled-coil domain containing 92 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr12:31,796,102...31,823,333
Ensembl chr12:31,796,684...31,823,337
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G |
Cckar |
cholecystokinin A receptor |
|
IAGP |
DNA:deletion |
RGD |
PMID:16815799 |
RGD:1625200 |
NCBI chr14:57,292,397...57,300,747
Ensembl chr14:57,292,397...57,300,747
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|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
IEP |
protein:increased expression:urine |
RGD |
PMID:18388116 PMID:25899686 |
RGD:2301862, RGD:14995493 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:17966842 |
RGD:2307064 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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G |
Ccn2 |
cellular communication network factor 2 |
|
IEP |
mRNA, protein:increased expression:left ventricle (rat) |
RGD |
PMID:19902320 |
RGD:2314357 |
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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G |
Ccnd2 |
cyclin D2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24464100 |
|
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
protein:increased expression:monocyte |
RGD |
PMID:16631114 |
RGD:2313561 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
treatment |
ISO IEP |
protein:increased expression:monocyte |
RGD |
PMID:17966842 PMID:23063706 |
RGD:2307064, RGD:8552229 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Cd36 |
CD36 molecule |
severity |
ISO IEP |
protein:increased expression:plasma protein:increased expression:aorta DNA:SNP:promoter DNA:nonsense mutation: :p.L360X protein:increased expression:heart protein:increased expression:platelet CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus |
CTD ClinVar RGD |
PMID:16911630 PMID:16952981 PMID:25741868 PMID:31626838 PMID:32347024 PMID:32796572 PMID:16952981 PMID:17127041 PMID:16911630 PMID:15221799 PMID:7544802 PMID:20134099 PMID:12479587 More...
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RGD:2307212, RGD:2307211, RGD:2307213, RGD:2307218, RGD:2307219, RGD:6893499, RGD:11040908 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Cd38 |
CD38 molecule |
|
ISO IEP |
mRNA:decreased expression:pancreatic islet DNA:missense mutation: :p.R140W (human) |
RGD |
PMID:12242463 PMID:7669044 PMID:9754820 |
RGD:2307232, RGD:2307234, RGD:2307233 |
NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
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G |
Cd40lg |
CD40 ligand |
|
ISO |
protein:increased expression:serum associated with non-alcoholic steatohepatitis;mRNA:increased expression:visceral abdominal adipose tissue |
RGD |
PMID:16423632 PMID:19280268 |
RGD:2314214, RGD:5688143 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Cdk4 |
cyclin-dependent kinase 4 |
no_association |
ISO |
DNA:polymorphism:intron:IVS4-40G>A (human) |
RGD |
PMID:18678431 PMID:19695727 |
RGD:2314611, RGD:2314610 |
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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G |
Cdkal1 |
CDK5 regulatory subunit associated protein 1-like 1 |
|
ISO ISS |
DNA:snps: :multiple DNA:snp: :rs7754840(human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
CTD ClinVar MouseDO RGD |
PMID:17460697 PMID:17463246 PMID:17463248 PMID:17463249 PMID:23104008 PMID:23202124 PMID:24760768 PMID:19401414 PMID:18633108 PMID:18991055 More...
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RGD:2313941, RGD:2313949, RGD:2313947 |
NCBI chr17:34,718,701...35,271,276
Ensembl chr17:34,718,687...35,407,524
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G |
Cdo1 |
cysteine dioxygenase type 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23665415 |
|
NCBI chr18:39,432,473...39,447,253
Ensembl chr18:39,432,474...39,447,296
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G |
Cel |
carboxyl ester lipase |
|
ISO |
DNA:deletion:exon ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar RGD |
PMID:25741868 PMID:16369531 |
RGD:2313964 |
NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
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G |
Chi3l1 |
chitinase 3 like 1 |
|
ISO |
protein:increased secretion:plasma (human) |
RGD |
PMID:21143859 |
RGD:4892628 |
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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G |
Cisd2 |
CDGSH iron sulfur domain 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946
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G |
Clps |
colipase |
susceptibility |
ISO |
DNA:polymorphism:exon:p.R109C (human) |
RGD |
PMID:16189801 |
RGD:2314627 |
NCBI chr20:6,620,529...6,622,709
Ensembl chr20:6,620,529...6,622,689
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G |
Cmip |
c-Maf-inducing protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr19:45,304,597...45,510,653
Ensembl chr19:45,304,031...45,508,709
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G |
Cnksr2 |
connector enhancer of kinase suppressor of Ras 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
|
NCBI chr X:36,908,135...37,148,337
Ensembl chr X:36,907,850...37,150,555
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G |
Cnr1 |
cannabinoid receptor 1 |
|
ISO |
|
RGD |
PMID:18678611 |
RGD:2314632 |
NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
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G |
Col3a1 |
collagen type III alpha 1 chain |
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IEP |
|
RGD |
PMID:20836762 |
RGD:7257556 |
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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G |
Cp |
ceruloplasmin |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:19834873 |
RGD:2314681 |
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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G |
Cpb2 |
carboxypeptidase B2 |
|
ISO |
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
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G |
Cpe |
carboxypeptidase E |
onset no_association |
ISO |
DNA:SNP:cds (rs1583645) (human) |
RGD |
PMID:11462236 PMID:9662053 PMID:23776430 |
RGD:1626183, RGD:1626184, RGD:405650683 |
NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233
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G |
Cpt1a |
carnitine palmitoyltransferase 1A |
|
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16123366 PMID:19553925 |
RGD:2311344 |
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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G |
Crhr1 |
corticotropin releasing hormone receptor 1 |
|
IEP |
mRNA:decreased expression:hypothalamus (rat) |
RGD |
PMID:20472052 |
RGD:5507823 |
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
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G |
Crp |
C-reactive protein |
|
ISO |
|
RGD |
PMID:16764962 |
RGD:9491772 |
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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G |
Crtc2 |
CREB regulated transcription coactivator 2 |
treatment |
IMP |
|
RGD |
PMID:23595987 PMID:19706791 |
RGD:9685169, RGD:9685172 |
NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763
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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
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G |
Ctf1 |
cardiotrophin 1 |
|
ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
|
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NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
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G |
Ctsb |
cathepsin B |
|
ISO |
mRNA:decreased expression:pancreatic islet (human) |
RGD |
PMID:19367387 |
RGD:2315527 |
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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G |
Ctsl |
cathepsin L |
susceptibility |
ISO |
mRNA:increased expression:gastrocnemius muscle (mouse) protein:increased expression:right auricular appendage (human) |
RGD |
PMID:12941783 PMID:19074676 |
RGD:2315625, RGD:2315622 |
NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
|
RGD |
PMID:19187771 |
RGD:2311356 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcl12 |
C-X-C motif chemokine ligand 12 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:18451752 |
RGD:2306553 |
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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G |
Cyb5r4 |
cytochrome b5 reductase 4 |
|
ISO ISS |
DNA:deletion:intron:IVSV+7TC (human) OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO RGD |
PMID:15504981 |
RGD:2315647 |
NCBI chr 8:87,975,596...88,048,356
Ensembl chr 8:87,981,116...88,045,832
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G |
Cyba |
cytochrome b-245 alpha chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15531508 |
|
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
|
IEP |
mRNA:decreased expression:testis, Leydig cell (rat) |
RGD |
PMID:18481435 |
RGD:4889107 |
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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|
G |
Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
|
ISO |
DNA:polymorphism:promoter:-344C>T (human) |
RGD |
PMID:18771471 |
RGD:2307288 |
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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G |
Cyp11b3 |
cytochrome P450, family 11, subfamily b, polypeptide 3 |
|
ISO |
DNA:polymorphism:promoter:-344C>T (human) |
RGD |
PMID:18771471 |
RGD:2307288 |
NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
DNA:polymorphism:3' UTR:5639T>C (human) |
RGD |
PMID:11996959 |
RGD:2307073 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp1a2 |
cytochrome P450, family 1, subfamily a, polypeptide 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22244987 |
|
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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|
G |
Cyp2c6 |
cytochrome P450, family 2, subfamily C, polypeptide 6 |
treatment |
IEP |
|
RGD |
PMID:32742601 |
RGD:124713564 |
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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|
G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO IEP |
mRNA:increased expression:leukocyte mRNA, protein:decreased expression:liver mRNA:decreased expression:liver |
RGD |
PMID:12534643 PMID:10679205 PMID:10049703 |
RGD:2313686, RGD:2313687, RGD:2313688 |
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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G |
Cyp3a2 |
cytochrome P450, family 3, subfamily a, polypeptide 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22244987 |
|
NCBI chr12:9,207,978...9,230,064
Ensembl chr12:9,015,383...9,285,008
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G |
Dag1 |
dystroglycan 1 |
|
IEP |
protein:decreased expression:skeletal muscle |
RGD |
PMID:16323284 |
RGD:1581689 |
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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G |
Dcn |
decorin |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:18414424 |
RGD:2311410 |
NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270
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G |
Dcx |
doublecortin |
|
IEP |
protein:decreased expression:dentate gyrus |
RGD |
PMID:18982449 |
RGD:12904763 |
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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G |
Defb1 |
defensin beta 1 |
|
IEP |
|
RGD |
PMID:14521940 |
RGD:4892271 |
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
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G |
Dgkd |
diacylglycerol kinase, delta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
|
NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345
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G |
Dio2 |
iodothyronine deiodinase 2 |
no_association |
ISO |
DNA:SNP: :rs225014, p.T92A (human) |
RGD |
PMID:17077128 |
RGD:1626439 |
NCBI chr 6:109,665,523...109,679,809
Ensembl chr 6:109,665,523...109,679,809
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G |
Dll3 |
delta like canonical Notch ligand 3 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
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G |
Dnm1l |
dynamin 1-like |
treatment |
IEP |
|
RGD |
PMID:21820301 |
RGD:11561956 |
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
IEP |
mRNA:increased expression:liver: |
RGD |
PMID:21818837 |
RGD:7207079 |
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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|
G |
Dpp4 |
dipeptidylpeptidase 4 |
|
ISO |
|
RGD |
PMID:19705345 |
RGD:2313700 |
NCBI chr 3:46,962,233...47,043,870
Ensembl chr 3:46,962,243...47,043,901
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G |
Drd2 |
dopamine receptor D2 |
|
ISO |
DNA:polymorphism:exon:32806C>T (human) |
RGD |
PMID:18834717 |
RGD:2311601 |
NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
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G |
Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
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G |
Ece1 |
endothelin converting enzyme 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16387788 |
|
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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G |
Ech1 |
enoyl-CoA hydratase 1 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,114,494...84,120,788
Ensembl chr 1:84,112,751...84,120,795
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|
G |
Edn1 |
endothelin 1 |
|
ISO IEP |
mRNA:increased expression:blood vessel endothelial cell protein:increased expression:mesenteric artery CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16387788 PMID:19581418 PMID:19286964 |
RGD:2313278, RGD:2313280 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Ednra |
endothelin receptor type A |
|
IEP ISO |
protein:increased expression:mesenteric artery CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16387788 PMID:19286964 |
RGD:2313280 |
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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G |
Ednrb |
endothelin receptor type B |
|
IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16387788 PMID:19286964 |
RGD:2313280 |
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
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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|
G |
Eid2 |
EP300 interacting inhibitor of differentiation 2 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,538,274...83,539,599
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|
G |
Eid2b |
EP300 interacting inhibitor of differentiation 2B |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
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|
G |
Eif3f |
eukaryotic translation initiation factor 3, subunit F |
|
IEP |
|
RGD |
PMID:12875716 |
RGD:10755506 |
NCBI chr 1:162,934,220...162,943,204
Ensembl chr 1:162,934,212...162,943,204
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|
G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
ISO |
NIDDM,OMIM:125853;DNA:polymorphism CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus |
CTD ClinVar OMIM RGD |
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:16025115 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:20016754 PMID:20137773 PMID:20981035 PMID:22539483 PMID:24033266 PMID:25741868 PMID:27238374 PMID:27467858 PMID:28377967 PMID:28492532 PMID:29979387 PMID:34609116 PMID:35738466 PMID:16025115 More...
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RGD:1601042 |
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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G |
Ep300 |
E1A binding protein p300 |
|
ISO |
protein:increased serine phosphorylation:renal glomerulus (mouse) |
RGD |
PMID:23737551 |
RGD:7257568 |
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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G |
Epas1 |
endothelial PAS domain protein 1 |
|
IEP |
|
RGD |
PMID:17914354 |
RGD:10395377 |
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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|
G |
Epc2 |
enhancer of polycomb homolog 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
|
NCBI chr 3:33,867,219...33,967,908
Ensembl chr 3:33,867,219...33,967,150
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|
G |
Epo |
erythropoietin |
|
ISO |
mRNA:increased expression:retina protein:decreased expression:plasma |
RGD |
PMID:16936148 PMID:16911620 |
RGD:2313840, RGD:2313842 |
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
Esr1 |
estrogen receptor 1 |
|
ISO |
DNA:polymorphism DNA:SNPs:introns: rs3020314, rs985694, rs1884051 (human) |
RGD |
PMID:17097034 PMID:18854778 |
RGD:2314012, RGD:2314003 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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|
G |
Esrra |
estrogen related receptor, alpha |
no_association |
ISO |
|
RGD |
PMID:16755280 |
RGD:1625637 |
NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268
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|
G |
Ets1 |
ETS proto-oncogene 1, transcription factor |
|
ISO |
protein:increased expression:nucleus CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30718926 PMID:19225563 PMID:19225563 |
RGD:2313847, RGD:2313847 |
NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010
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G |
F12 |
coagulation factor XII |
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ISO |
protein:increased activity:plasma (human) |
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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G |
F2 |
coagulation factor II, thrombin |
|
ISO |
protein:increased expression:plasma associated with Myocardial Infarction |
RGD |
PMID:17971179 PMID:18487475 |
RGD:2313852, RGD:2313851 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
F3 |
coagulation factor III, tissue factor |
|
ISO |
protein:increased activity:plasma |
RGD |
PMID:17785358 |
RGD:2312381 |
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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G |
F7 |
coagulation factor VII |
susceptibility no_association |
ISO IDA |
associated with Kidney Failure; protein:increased expression:plasma (human) associated with Brain Infarction; protein:increased activity:plasma (human) |
RGD |
PMID:10332679 PMID:15860378 PMID:18000605 PMID:17785358 PMID:11689270 PMID:14614217 PMID:11137328 More...
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RGD:2312388, RGD:2312383, RGD:2312380, RGD:2312381, RGD:2312382, RGD:2312394, RGD:2312386 |
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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G |
F8 |
coagulation factor VIII |
|
ISO |
protein:increased activity:plasma (human) |
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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G |
F9 |
coagulation factor IX |
|
ISO |
protein:increased activity:plasma (human) |
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr X:138,352,334...138,396,835
Ensembl chr X:138,352,298...138,396,835
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G |
Fabp2 |
fatty acid binding protein 2 |
no_association |
ISO |
|
RGD |
PMID:16919542 |
RGD:1626401 |
NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089
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G |
Fabp3 |
fatty acid binding protein 3 |
susceptibility |
ISO |
DNA:deletion:3' utr:c.634+483delT (human) |
RGD |
PMID:12872269 |
RGD:1578461 |
NCBI chr 5:142,651,962...142,658,707
Ensembl chr 5:142,651,956...142,658,718
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G |
Fam234a |
family with sequence similarity 234, member A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr10:15,232,267...15,263,529
Ensembl chr10:15,232,278...15,263,488
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G |
Fas |
Fas cell surface death receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
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NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
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ISO |
DNA:repeats:3' utr (human) |
RGD |
PMID:16691186 |
RGD:2315750 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Fbl |
fibrillarin |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
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G |
Fbn1 |
fibrillin 1 |
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IEP |
|
RGD |
PMID:20836762 |
RGD:7257556 |
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Fbxo17 |
F-box protein 17 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:84,002,276...84,024,455
Ensembl chr 1:84,002,267...84,024,453
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G |
Fbxo27 |
F-box protein 27 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,965,426...83,987,781
Ensembl chr 1:83,965,986...83,987,778
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G |
Fcgbp |
Fc gamma binding protein |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083
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G |
Fem1b |
fem-1 homolog B |
|
ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
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NCBI chr 8:63,265,301...63,278,577
Ensembl chr 8:63,265,301...63,278,577
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G |
Ffar1 |
free fatty acid receptor 1 |
ameliorates |
ISO |
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RGD |
PMID:19401434 PMID:19758793 |
RGD:150517551, RGD:2315761 |
NCBI chr 1:86,111,368...86,112,272
Ensembl chr 1:86,111,368...86,112,272
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G |
Fga |
fibrinogen alpha chain |
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ISO |
protein:increased activity:plasma (human) |
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
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G |
Fgb |
fibrinogen beta chain |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
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G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:18279437 |
RGD:2315844 |
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G |
Fgf21 |
fibroblast growth factor 21 |
treatment |
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:26797127 PMID:21293445 |
RGD:10401914 |
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
|
RGD |
PMID:22174314 |
RGD:10401888 |
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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G |
Fgg |
fibrinogen gamma chain |
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ISO |
protein:increased activity:plasma (human) |
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
mRNA, protein:decreased expression:skeletal muscle |
RGD |
PMID:17823371 |
RGD:2313719 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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G |
Foxa2 |
forkhead box A2 |
no_association |
ISO |
DNA:missense mutation:p.A86T (human) DNA:SNP, repeat: :rs1055080 (human) DNA:transversion, transitions:promoter, exon:multiple |
RGD |
PMID:11043867 PMID:18797817 PMID:10868949 |
RGD:2313245, RGD:2313242, RGD:2313246 |
NCBI chr 3:135,470,123...135,474,326
Ensembl chr 3:135,470,131...135,474,326
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G |
Foxc2 |
forkhead box C2 |
no_association |
ISO |
DNA:polymorphism:5'ut:-512C>T,-350G>T, 3'ut:1548C>T DNA:insertion:1006insA |
RGD |
PMID:12540636 PMID:15523639 |
RGD:1601220, RGD:1601217 |
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
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G |
Foxm1 |
forkhead box M1 |
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ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
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NCBI chr 4:161,639,538...161,652,012
Ensembl chr 4:161,638,816...161,650,684
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G |
Foxo1 |
forkhead box O1 |
treatment |
ISO |
protein:altered localization:nucleus, islet cell: |
RGD |
PMID:22417654 PMID:20736318 |
RGD:10044264, RGD:10044265 |
NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
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G |
Frzb |
frizzled-related protein |
|
ISO |
protein, decreased expression:skeletal muscle, serum (human) |
RGD |
PMID:28240822 |
RGD:32716394 |
NCBI chr 3:65,332,274...65,365,208
Ensembl chr 3:65,332,277...65,365,208
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G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
susceptibility no_association |
ISO IEP |
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs17817449 (human) DNA:SNP: :rs9939609 (human) DNA:SNP: :rs1421085 (human) DNA:SNP:intron:rs9939609 (human) DNA:SNPs: :multiple mRNA:increased expression:blood |
CTD RGD |
PMID:23104008 PMID:29154870 PMID:21294771 PMID:32061761 PMID:28890888 PMID:29410390 PMID:25303482 More...
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RGD:329813082, RGD:329901762, RGD:329901771, RGD:329901773, RGD:329901856, RGD:329951010 |
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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G |
Fuca1 |
alpha-L-fucosidase 1 |
|
ISO |
protein:increased activity:serum |
RGD |
PMID:16176171 |
RGD:2315931 |
NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
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G |
Fxn |
frataxin |
no_association |
ISO |
DNA:repeats:intron:GAA (human) |
RGD |
PMID:10102715 PMID:9588463 |
RGD:2307051, RGD:2307050 |
NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540
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G |
G6pc1 |
glucose-6-phosphatase catalytic subunit 1 |
|
ISO IDA |
protein:increased activity:liver |
RGD |
PMID:8865366 PMID:16396963 PMID:10866049 |
RGD:728661, RGD:2315959, RGD:2315966 |
NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
protein:decreased expression:reticulocyte, erythrocyte |
RGD |
PMID:12853069 |
RGD:2307349 |
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Gadd45gip1 |
GADD45G interacting protein 1 |
|
ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
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NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
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G |
Gal |
galanin and GMAP prepropeptide |
|
ISO |
protein:increased expression:blood |
RGD |
PMID:15735230 |
RGD:2313738 |
NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959
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G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
|
ISO |
protein:decreased acetylation |
RGD |
PMID:28258188 |
RGD:13792662 |
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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G |
Gcg |
glucagon |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23466488 |
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NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929
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G |
Gcgr |
glucagon receptor |
|
ISO |
DNA:mutation:exon:G40S ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar RGD |
PMID:7773293 PMID:8563746 PMID:28492532 PMID:7773293 |
RGD:1625208 |
NCBI chr10:105,808,474...105,816,641
Ensembl chr10:105,808,473...105,816,640
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G |
Gch1 |
GTP cyclohydrolase 1 |
|
ISO |
DNA:SNPs,haplotypes: :multiple |
RGD |
PMID:25369080 |
RGD:329961331 |
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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G |
Gck |
glucokinase |
no_association treatment |
ISO IDA ISS |
DNA:polymorphisms:multiple:no association between multiple SSLP and SNP alleles and T2DM in a Japanese population (human) DNA:microsatellite marker genotypes:3', 5':no association between genotypes of upstream or downstream microsatellite markers and T2DM in Welsh Caucasians (human) MODY2, OMIM:125851;DNA:point mutation:E279X protein:altered localization:hepatocyte:impaired translocation from nucleus to cytoplasm in Zucker diabetic fatty rats DNA:polymorphisms::significant association between alleles of two SSLPs and T2DM in a Japanese population (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus |
OMIM CTD ClinVar MouseDO RGD |
PMID:1360036 PMID:1397713 PMID:1502186 PMID:2555564 PMID:7553875 PMID:8068341 PMID:8094163 PMID:8094164 PMID:8096296 PMID:8168652 PMID:8325892 PMID:8349034 PMID:8433729 PMID:8446612 PMID:8495817 PMID:8897004 PMID:9000695 PMID:9049484 PMID:9075802 PMID:9078243 PMID:9435328 PMID:9867845 PMID:10426385 PMID:10447526 PMID:10455021 PMID:10525657 PMID:10753050 PMID:11315828 PMID:11372010 PMID:11508276 PMID:11553210 PMID:11942313 PMID:12442280 PMID:12627330 PMID:14517946 PMID:14517956 PMID:14578306 PMID:15102714 PMID:15161764 PMID:15305805 PMID:15841481 PMID:15928245 PMID:16059790 PMID:16123366 PMID:16173921 PMID:16444761 PMID:16602010 PMID:16632067 PMID:16731834 PMID:16965331 PMID:17079173 PMID:17186219 PMID:17230658 PMID:17389332 PMID:17573900 PMID:17937063 PMID:18271687 PMID:18322640 PMID:18382660 PMID:18399931 PMID:18411240 PMID:19002431 PMID:19309449 PMID:19515026 PMID:19564454 PMID:19790256 PMID:20081858 PMID:20301620 PMID:20337973 PMID:21104275 PMID:21348868 PMID:21569204 PMID:21604084 PMID:21720051 PMID:21831042 PMID:21921030 PMID:22028181 PMID:22060211 PMID:22335469 PMID:22389783 PMID:22493702 PMID:22611063 PMID:22773699 PMID:22820548 PMID:23275527 PMID:23295287 PMID:23295292 PMID:23771925 PMID:24033266 PMID:24097065 PMID:24323243 PMID:24430320 PMID:24518839 PMID:24568320 PMID:24578721 PMID:24660669 PMID:24735133 PMID:24804978 PMID:24918535 PMID:25015100 PMID:25306193 PMID:25414397 PMID:25555642 PMID:25741868 PMID:25850297 PMID:26467025 PMID:26552609 PMID:26587058 PMID:26641800 PMID:27080136 PMID:27185633 PMID:27256595 PMID:27269892 PMID:27271189 PMID:27913849 PMID:28012402 PMID:28170077 PMID:28492532 PMID:28663157 PMID:28701371 PMID:28726111 PMID:29056535 PMID:29207974 PMID:29510678 PMID:29777474 PMID:29927023 PMID:30191644 PMID:30257192 PMID:30259503 PMID:30590153 PMID:30592380 PMID:30656436 PMID:31063852 PMID:31197960 PMID:31216263 PMID:31576961 PMID:31638168 PMID:31957151 PMID:32017842 PMID:32074423 PMID:32375122 PMID:32533152 PMID:32741144 PMID:32792356 PMID:33046911 PMID:33129248 PMID:33477506 PMID:33852230 PMID:34023340 PMID:34393998 PMID:34440516 PMID:34686905 PMID:34746319 PMID:35472491 PMID:36257325 PMID:36504295 PMID:37008541 PMID:8200206 PMID:8314445 PMID:1570017 PMID:15138155 PMID:8325445 PMID:22234649 More...
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RGD:2301887, RGD:2301883, RGD:1601292, RGD:1582633, RGD:2301889, RGD:7488969 |
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
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G |
Gckr |
glucokinase regulator |
|
ISO |
DNA:polymorphism: :rs780094 (human) DNA:SNP::rs1260326(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20081858 PMID:19241058 PMID:18556336 PMID:11473043 PMID:21411509 |
RGD:2315983, RGD:2315985, RGD:2315986, RGD:7242280 |
NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654
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G |
Gclc |
glutamate-cysteine ligase, catalytic subunit |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:32715377 |
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NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
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G |
Gclm |
glutamate cysteine ligase, modifier subunit |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:32715377 |
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NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535
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G |
Gfpt1 |
glutamine fructose-6-phosphate transaminase 1 |
|
ISO |
|
RGD |
PMID:17574229 |
RGD:2313352 |
NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471
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G |
Gfpt2 |
glutamine-fructose-6-phosphate transaminase 2 |
susceptibility |
ISO |
DNA:missense mutation, SNPs:exon, 3' utr:multiple |
RGD |
PMID:14764791 |
RGD:2307362 |
NCBI chr10:34,115,005...34,161,329
Ensembl chr10:34,115,052...34,161,329
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G |
Ggt1 |
gamma-glutamyltransferase 1 |
|
ISO |
|
RGD |
PMID:19936701 |
RGD:2315593 |
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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G |
Gh1 |
growth hormone 1 |
treatment |
IEP |
|
RGD |
PMID:26379831 |
RGD:11352744 |
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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G |
Ghr |
growth hormone receptor |
|
ISO |
DNA:deletion:exon (human) |
RGD |
PMID:17537658 |
RGD:2307363 |
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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G |
Ghrl |
ghrelin and obestatin prepropeptide |
susceptibility |
ISO |
DNA:polymorphism: :p.L72M (human) |
RGD |
PMID:18848536 |
RGD:2313749 |
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
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G |
Gip |
gastric inhibitory polypeptide |
|
ISO IDA |
disease in rat treated with human protein |
RGD |
PMID:18937625 PMID:19126188 PMID:19473824 PMID:19056762 |
RGD:2312589, RGD:2312591, RGD:2312587, RGD:2312529 |
NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503
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G |
Gipr |
gastric inhibitory polypeptide receptor |
|
ISO IAGP |
protein:decreased expression:pancreatic islet (human) |
RGD |
PMID:19386626 PMID:11334402 |
RGD:2312454, RGD:68929 |
NCBI chr 1:78,804,287...78,814,462
Ensembl chr 1:78,805,593...78,814,462
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G |
Gja1 |
gap junction protein, alpha 1 |
|
IEP |
protein:increased phosphorylation:kidney |
RGD |
PMID:21573906 |
RGD:7207393 |
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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G |
Glis3 |
GLIS family zinc finger 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22158537 |
|
NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
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G |
Glo1 |
glyoxalase 1 |
|
ISO |
DNA:point mutation: :c.332A>C (human) |
RGD |
PMID:18413187 |
RGD:7242567 |
NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649
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G |
Glp1r |
glucagon-like peptide 1 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
|
NCBI chr20:8,972,004...9,010,241
Ensembl chr20:8,972,004...9,010,241
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G |
Gmfg |
glia maturation factor, gamma |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,728,797...83,739,189
Ensembl chr 1:83,728,776...83,739,183
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|
G |
Gnb3 |
G protein subunit beta 3 |
|
ISO |
DNA:polymorphism: :825C>T (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12511541 PMID:18656447 |
RGD:2313204 |
NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
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|
G |
Gp2 |
glycoprotein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
|
NCBI chr 1:173,797,057...173,812,619
Ensembl chr 1:173,797,057...173,812,619
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G |
Gp6 |
glycoprotein VI |
|
ISO |
protein:increased expression:plasma (human) associated with intermediate coronary syndrome;DNA:missense mutation:CDS: (rs1671152) (human) |
RGD |
PMID:33859620 PMID:33076381 |
RGD:401794568, RGD:401794569 |
NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
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G |
Gpd2 |
glycerol-3-phosphate dehydrogenase 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus |
CTD OMIM ClinVar |
PMID:9070847 PMID:16123366 PMID:25741868 |
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NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901
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G |
Gpt |
glutamic--pyruvic transaminase |
|
IEP |
protein:increased expression, activity:liver: |
RGD |
PMID:25865565 |
RGD:11342811 |
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
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|
G |
Gpt2 |
glutamic--pyruvic transaminase 2 |
|
IEP |
protein:increased expression, activity:liver: |
RGD |
PMID:25865565 |
RGD:11342811 |
NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
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G |
Gpx1 |
glutathione peroxidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 PMID:23795780 |
|
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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|
G |
Gpx3 |
glutathione peroxidase 3 |
treatment |
ISO |
protein:decreased expression:plasma (human) |
RGD |
PMID:18936159 PMID:24102912 |
RGD:2312632, RGD:401827847 |
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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|
G |
Grb14 |
growth factor receptor bound protein 14 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism associated with Environmental Illness; DNA:SNP:: (rs13389219) (Human) |
CTD RGD |
PMID:21874001 PMID:27281273 |
RGD:401850598 |
NCBI chr 3:49,568,210...49,683,805
Ensembl chr 3:49,568,210...49,683,889
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|
G |
Gsk3b |
glycogen synthase kinase 3 beta |
treatment |
ISO IEP |
|
RGD |
PMID:20821187 PMID:27164497 |
RGD:10045562, RGD:13792739 |
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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|
G |
Gstm1 |
glutathione S-transferase mu 1 |
no_association susceptibility |
ISO |
DNA:deletion: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22652274 PMID:16413497 PMID:17979505 PMID:20739761 |
RGD:2306628, RGD:2306627, RGD:5490963 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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|
G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.I105V (rs1695) (human) |
RGD |
PMID:20739761 |
RGD:5490963 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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|
G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
|
RGD |
PMID:17979505 |
RGD:2306627 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
H19 |
H19 imprinted maternally expressed transcript |
sexual_dimorphism |
ISO |
RNA:decrased expression:blood serum (human) |
RGD |
PMID:33116722 |
RGD:243048436 |
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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|
G |
Hba-a2 |
hemoglobin alpha, adult chain 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16632892 |
|
NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392
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G |
Hdac1 |
histone deacetylase 1 |
|
ISO |
protein:increased activity:kidney: |
RGD |
PMID:19553350 |
RGD:9590229 |
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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G |
Hdac2 |
histone deacetylase 2 |
|
ISO |
protein:increased activity:kidney: |
RGD |
PMID:19553350 |
RGD:9590229 |
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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G |
Hectd4 |
HECT domain E3 ubiquitin protein ligase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35713687 |
|
NCBI chr12:35,182,165...35,330,935
Ensembl chr12:35,182,154...35,330,987
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G |
Hfe |
homeostatic iron regulator |
susceptibility |
ISO |
DNA:missense mutation:cds:p.H63D (human) associated with cystic fibrosis;DNA:missense mutation: :p.C282Y (human) |
RGD |
PMID:20097100 PMID:30291871 |
RGD:8694381, RGD:14701045 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Hhex |
hematopoietically expressed homeobox |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23104008 |
|
NCBI chr 1:235,190,455...235,196,042
Ensembl chr 1:235,190,455...235,196,042
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
susceptibility |
IEP ISO |
protein:increased expression:heart blood vessel DNA:missense mutation:cds:p.P582S (human) associated with Breast Neoplasms;protein:increased expression:serum (human) |
RGD |
PMID:12234789 PMID:16046581 PMID:23244125 PMID:17914354 |
RGD:625730, RGD:8695936, RGD:8695972, RGD:10395377 |
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hipk4 |
homeodomain interacting protein kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
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G |
Hk1 |
hexokinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
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NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131
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G |
Hk2 |
hexokinase 2 |
|
ISO |
mRNA:decreased expression:epididymal fat pad, quadriceps |
RGD |
PMID:11319725 PMID:7813813 |
RGD:2313227, RGD:2313229 |
NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530
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G |
Hmg20a |
high mobility group 20A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21874001 |
|
NCBI chr 8:56,819,673...56,895,658
Ensembl chr 8:56,819,659...56,895,656
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G |
Hmga1 |
high mobility group AT-hook 1 |
susceptibility |
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
CTD ClinVar OMIM MouseDO |
PMID:15924147 PMID:21364139 PMID:23512162 |
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NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO IMP |
DNA:polymorphism (human) |
RGD |
PMID:17870053 PMID:15312879 |
RGD:2313753, RGD:2313759 |
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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G |
Hmox1 |
heme oxygenase 1 |
treatment |
ISO IEP |
DNA:repeat:promoter associated with Obesity CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:12136229 PMID:16123366 PMID:16959961 PMID:17991645 PMID:23731386 |
RGD:10755699, RGD:8695927 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Hnf1a |
HNF1 homeobox A |
susceptibility onset |
ISO ISS |
DNA:deletions:exon:multiple Maturity-onset diabetes of the young type III, OMIM:600496;DNA:insertions, deletions, point mutations: :multiple DNA:nonsense mutations, missense mutations: :multiple DNA:SNP::rs1169288 associated with future risk of developing T2DM (p=0.0002) (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus DNA:SNP:cds: p.G319S (human) associated with nicotine dependence; DNA:SNP:cds: p.G319S (human) OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus |
OMIM CTD ClinVar MouseDO RGD |
PMID:8945470 PMID:9112026 PMID:9133564 PMID:9287053 PMID:9313764 PMID:9604876 PMID:9867222 PMID:10084598 PMID:10333057 PMID:10588527 PMID:10634407 PMID:10843190 PMID:10852449 PMID:11058894 PMID:11904371 PMID:11942313 PMID:12355088 PMID:12359128 PMID:12574234 PMID:12627330 PMID:12675668 PMID:12788852 PMID:12832318 PMID:15031772 PMID:15657605 PMID:15761192 PMID:15883474 PMID:15928245 PMID:16186275 PMID:16241915 PMID:16917892 PMID:16963153 PMID:17033837 PMID:17062882 PMID:17116178 PMID:17192490 PMID:17220065 PMID:17407072 PMID:17425917 PMID:17440016 PMID:17573900 PMID:17937063 PMID:18003757 PMID:18332101 PMID:18414213 PMID:18439552 PMID:18498634 PMID:18586913 PMID:18811724 PMID:19672314 PMID:19754856 PMID:20031592 PMID:20393147 PMID:20690076 PMID:20705777 PMID:21170474 PMID:21761282 PMID:23139355 PMID:23274891 PMID:23348805 PMID:23607861 PMID:24033266 PMID:24097065 PMID:24728327 PMID:24915262 PMID:24933231 PMID:25057215 PMID:25555642 PMID:25741868 PMID:26059258 PMID:26431509 PMID:26467025 PMID:26981542 PMID:27035118 PMID:27130141 PMID:27458973 PMID:27899486 PMID:28105082 PMID:28492532 PMID:28869590 PMID:29207974 PMID:29376044 PMID:29758564 PMID:29844095 PMID:29895593 PMID:30155490 PMID:30202817 PMID:31109344 PMID:31264968 PMID:31385057 PMID:31485449 PMID:31517624 PMID:31566143 PMID:31673528 PMID:31844173 PMID:31968565 PMID:32041611 PMID:32395877 PMID:32910913 PMID:32928877 PMID:33363396 PMID:33477506 PMID:33651556 PMID:34668636 PMID:34803393 PMID:35218126 PMID:35299962 PMID:35328643 PMID:35673428 PMID:17828387 PMID:8945470 PMID:18003757 PMID:18332101 PMID:20716378 PMID:27087001 PMID:21208426 More...
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RGD:2301828, RGD:1601479, RGD:2301827, RGD:2301863, RGD:329901814, RGD:329901816, RGD:329901835 |
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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G |
Hnf1b |
HNF1 homeobox B |
susceptibility no_association |
ISO |
renal cysts and diabetes syndrome, OMIM:137920;DNA:splice-site mutation:intron:IVS2+1G>A DNA:deletions:cds:multiple (human) CTD Direct Evidence: marker/mechanism|therapeutic ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus |
OMIM CTD ClinVar RGD |
PMID:9398836 PMID:12148114 PMID:12161522 PMID:15068978 PMID:15509593 PMID:15649945 PMID:15660195 PMID:15930087 PMID:16249435 PMID:17116179 PMID:17603485 PMID:18249217 PMID:18528323 PMID:18644064 PMID:19639018 PMID:20378641 PMID:21163139 PMID:21380624 PMID:21775974 PMID:22051731 PMID:22432796 PMID:22706971 PMID:23539225 PMID:24097065 PMID:24254850 PMID:24897035 PMID:25441779 PMID:25500806 PMID:25536396 PMID:25700310 PMID:25741167 PMID:25741868 PMID:26340261 PMID:26467025 PMID:27234567 PMID:27615128 PMID:28215227 PMID:28420700 PMID:28492532 PMID:29764441 PMID:29927023 PMID:30191644 PMID:30481753 PMID:30655312 PMID:30666461 PMID:31198537 PMID:31498910 PMID:31825128 PMID:32266039 PMID:32708349 PMID:33046911 PMID:33434175 PMID:33532864 PMID:33663443 PMID:33851123 PMID:11317673 PMID:19417042 PMID:15883474 More...
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RGD:1601484, RGD:2312748, RGD:2312750 |
NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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G |
Hnf4a |
hepatocyte nuclear factor 4, alpha |
susceptibility |
ISO IEP |
DNA:SNPs:promoter:(human) type I maturity-onset diabetes of the young, OMIM:125850 DNA:missense mutation:exon:p.T130I DNA:SNP::rs4810424 and rs3212198 nominally associated with future risk of developing T2DM (p=0.04) (human) CTD Direct Evidence: marker/mechanism protein:decreased expression:liver: mRNA:decreased expression:liver,pancreas ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus |
OMIM CTD ClinVar RGD |
PMID:9449683 PMID:10227563 PMID:10447526 PMID:10983627 PMID:12669197 PMID:15281001 PMID:16883527 PMID:16946562 PMID:17317762 PMID:17563455 PMID:18268044 PMID:18414213 PMID:21105491 PMID:21874001 PMID:22158537 PMID:23227446 PMID:23247789 PMID:23268925 PMID:24033266 PMID:24097065 PMID:25041077 PMID:25741868 PMID:25905084 PMID:26059258 PMID:26467025 PMID:26981542 PMID:27080136 PMID:27420379 PMID:27884173 PMID:28492532 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:36257325 PMID:18728231 PMID:8945471 PMID:18028455 PMID:18332101 PMID:19179483 PMID:19252740 More...
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RGD:2301836, RGD:1601637, RGD:2301839, RGD:2301863, RGD:12904769, RGD:12904770 |
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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G |
Hnrnpl |
heterogeneous nuclear ribonucleoprotein L |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553
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G |
Hp |
haptoglobin |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16506275 PMID:19996384 |
RGD:6483015 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Hpx |
hemopexin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16506275 |
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NCBI chr 1:159,932,819...159,940,327
Ensembl chr 1:159,932,755...159,940,328
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G |
Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
susceptibility |
IEP ISO |
mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats DNA:SNPs:intron: (rs12086634,rs846910) (human) |
RGD |
PMID:14697232 PMID:28750217 |
RGD:1625074, RGD:329901909 |
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
|
ISO |
mRNA, protein:increased expression:skeletal muscle |
RGD |
PMID:17519316 |
RGD:2308922 |
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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G |
Hsd17b3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
|
IEP |
mRNA:decreased expression:testis, Leydig cell (rat) |
RGD |
PMID:18481435 |
RGD:4889107 |
NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
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G |
Hsd3b1 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 |
|
IEP |
mRNA:decreased expression:testis, Leydig cell (rat) |
RGD |
PMID:18481435 |
RGD:4889107 |
NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
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G |
Hsf1 |
heat shock transcription factor 1 |
|
ISO |
protein:increased expression:heart (mouse) |
RGD |
PMID:24496227 |
RGD:10402557 |
NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
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G |
Hspa1b |
heat shock protein family A (Hsp70) member 1B |
|
ISO |
DNA:SNP:CDS:homozygous P2/P2 allele at position 1267 (p=0.001 for all diabetic p |
RGD |
PMID:15223990 |
RGD:1626646 |
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
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G |
Hspa4 |
heat shock protein family A (Hsp70) member 4 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:22349026 |
RGD:6218966 |
NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
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G |
Htr2c |
5-hydroxytryptamine receptor 2C |
|
ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
|
|
NCBI chr X:110,640,777...110,870,288
Ensembl chr X:110,641,153...110,870,287
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G |
Iapp |
islet amyloid polypeptide |
|
ISO ISS |
protein:increased expression:pancreatic islet (human) CTD Direct Evidence: marker/mechanism OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
CTD MouseDO RGD |
PMID:16123366 PMID:23793354 PMID:18641056 PMID:2441214 PMID:19100955 |
RGD:2313359, RGD:9686128, RGD:2311446 |
NCBI chr 4:175,237,107...175,244,373
Ensembl chr 4:175,237,115...175,242,920
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
IEP ISO |
mRNA, protein:increased expression:aorta (rat) protein:increased expression:plasma CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24513509 PMID:20388520 PMID:18299691 |
RGD:4145422, RGD:2312766 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Id1 |
inhibitor of DNA binding 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
|
NCBI chr 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419
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G |
Ide |
insulin degrading enzyme |
no_association |
ISO IAGP |
DNA:SNPs, haplotype: :rs2209972, rs1887922 (human) DNA:missense mutations, haplotype:exon:p.H18R, p.A890V (rat) DNA:SNP:cds (rs6583813) (human) |
RGD |
PMID:12765971 PMID:16380485 PMID:12634421 PMID:10958757 PMID:23776430 |
RGD:1626697, RGD:1626698, RGD:737718, RGD:737717, RGD:405650683 |
NCBI chr 1:235,002,984...235,102,448
Ensembl chr 1:234,995,351...235,102,440
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G |
Ifng |
interferon gamma |
|
ISO |
|
RGD |
PMID:18852529 |
RGD:2311491 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Ifnl1 |
interferon, lambda 1 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
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G |
Ifnl3 |
interferon, lambda 3 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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G |
Igf1 |
insulin-like growth factor 1 |
|
IEP ISO |
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RGD |
PMID:18986336 PMID:16005252 |
RGD:2306690, RGD:2313767 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Igf1r |
insulin-like growth factor 1 receptor |
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IEP |
protein:decreased expression:pancreas protein:decreased expression:myocardium, blood vessel endothelial cell |
RGD |
PMID:17476475 PMID:18986336 |
RGD:2311504, RGD:2306690 |
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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G |
Igf2 |
insulin-like growth factor 2 |
|
IEP ISO |
protein:decreased expression:pancreas |
RGD |
PMID:17476475 PMID:10727441 |
RGD:2311504, RGD:5510004 |
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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G |
Igf2bp2 |
insulin-like growth factor 2 mRNA binding protein 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:17463246 PMID:17463248 PMID:17463249 |
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NCBI chr11:78,874,402...78,974,392
Ensembl chr11:78,874,414...78,974,377
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G |
Igf2r |
insulin-like growth factor 2 receptor |
susceptibility |
ISO |
DNA:insertion, deletion:3' utr (human) |
RGD |
PMID:16868148 |
RGD:2311514 |
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
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ISO |
|
RGD |
PMID:16005252 |
RGD:2313767 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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G |
Ikbkb |
inhibitor of nuclear factor kappa B kinase subunit beta |
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ISO |
|
RGD |
PMID:15685173 |
RGD:10045952 |
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
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G |
Il10 |
interleukin 10 |
susceptibility |
ISO |
DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human) |
RGD |
PMID:19031431 PMID:28843383 |
RGD:2308943, RGD:14975146 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il13ra1 |
interleukin 13 receptor subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
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NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
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G |
Il1b |
interleukin 1 beta |
susceptibility |
ISO |
DNA:snp:exon:g.3968C>T rs1143634 (human) |
RGD |
PMID:21205020 PMID:28843383 |
RGD:7175255, RGD:14975146 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
susceptibility no_association disease_progression |
ISO |
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2, IL1RN*3 (human) DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) associated with Metabolic Syndrome X; DNA:snp:intron:IVS3+102A>G rs3213448 (human) |
RGD |
PMID:17069782 PMID:8786086 PMID:21205020 |
RGD:6907409, RGD:6907412, RGD:7175255 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il6 |
interleukin 6 |
|
IEP ISO |
mRNA:increased expression:adipose tissue DNA:polymorphism:promoter:-572C>G (human) protein:increased expression:extracellular space (human) DNA, protein:SNP, increased expression:promoter:serum, -174G>C (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to |
CTD ClinVar OMIM RGD |
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 PMID:18550579 PMID:19084046 PMID:18573122 PMID:19175895 PMID:28303994 More...
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RGD:2307269, RGD:2307270, RGD:2307266, RGD:14975285 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Inppl1 |
inositol polyphosphate phosphatase-like 1 |
|
ISO |
DNA:SNPs: :rs2276047,snp8(human) DNA:deletion:3' utr (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12086927 PMID:25635986 PMID:15220217 PMID:12086927 |
RGD:1626127, RGD:633161 |
NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500
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G |
Ins1 |
insulin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus |
CTD ClinVar |
PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:19586609 PMID:20226046 PMID:20301620 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28993341 PMID:30456822 More...
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NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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G |
Ins2 |
insulin 2 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism|therapeutic OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 ClinVar Annotator: match by term: Type 2 diabetes mellitus |
CTD MouseDO ClinVar RGD |
PMID:3511099 PMID:7573102 PMID:11522680 PMID:11978674 PMID:15531508 PMID:16259526 PMID:16519038 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:20226046 PMID:20301620 PMID:21680998 PMID:21779873 PMID:23349674 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28993341 PMID:30456822 PMID:33830302 PMID:1569197 PMID:3322910 More...
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RGD:1625120, RGD:2311112 |
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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G |
Insr |
insulin receptor |
treatment |
ISO IDA IMP IEP |
protein:increased serine phosphorylation, increased protein binding:liver protein:decreased expression:kidney protein:decreased phosphorylation:vastus lateralis:phosphotyrosine (human) ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar RGD |
PMID:1607076 PMID:1845971 PMID:2040394 PMID:2884728 PMID:4413914 PMID:7814014 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 PMID:25741868 PMID:27896077 PMID:28492532 PMID:31989990 PMID:19251743 PMID:19251743 PMID:19340286 PMID:17050616 PMID:19224872 PMID:17855644 PMID:18972094 PMID:23700236 PMID:19017805 More...
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RGD:2307334, RGD:2307334, RGD:2307333, RGD:2307341, RGD:2307335, RGD:2290475, RGD:2307342, RGD:10403046, RGD:2314405 |
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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G |
Irs1 |
insulin receptor substrate 1 |
no_association susceptibility |
ISO IDA ISS |
DNA:point mutation:exon:T608R DNA:polymorphisms: :p.P512A, p.G971R (human) DNA:SNP:promoter:-446G>A, -7120G>A (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
CTD ClinVar MouseDO OMIM RGD |
PMID:8104271 PMID:8723689 PMID:10430617 PMID:11775217 PMID:12679424 PMID:15688983 PMID:19734900 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28869590 PMID:12679424 PMID:15561966 PMID:19996384 PMID:22001674 PMID:14633864 More...
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RGD:1624975, RGD:6482863, RGD:6483015, RGD:6483016, RGD:7207057 |
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
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G |
Irs2 |
insulin receptor substrate 2 |
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ISO ISS |
DNA:polymorphism:exon:G1057D CTD Direct Evidence: marker/mechanism OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 ClinVar Annotator: match by term: Type 2 diabetes mellitus |
OMIM CTD MouseDO ClinVar RGD |
PMID:10525667 PMID:11030756 PMID:11473060 PMID:11600548 PMID:25741868 PMID:11030756 PMID:14617753 More...
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RGD:1625023, RGD:10045938 |
NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
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G |
Isl1 |
ISL LIM homeobox 1 |
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ISO IEP |
associated with Obesity;DNA:SNP:promoter:g.-47A>G (human) mRNA,protein:decreased expression:pancreas: |
RGD |
PMID:11978668 PMID:30341898 |
RGD:2311117, RGD:243065124 |
NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584
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G |
Itga1 |
integrin subunit alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
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NCBI chr 2:46,646,125...46,812,237
Ensembl chr 2:46,653,193...46,812,238
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G |
Itga2 |
integrin subunit alpha 2 |
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ISO |
protein:increased expression:platelet (human) |
RGD |
PMID:15025679 |
RGD:2307425 |
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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G |
Itgam |
integrin subunit alpha M |
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IEP |
protein:increased expression:neutrophil (rat) |
RGD |
PMID:21699626 |
RGD:329902064 |
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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G |
Itln1 |
intelectin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23555749 |
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NCBI chr13:83,932,234...83,958,243
Ensembl chr13:83,948,124...83,958,227
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G |
Jade2 |
jade family PHD finger 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr10:36,075,239...36,124,210
Ensembl chr10:36,078,917...36,116,984
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G |
Jazf1 |
JAZF zinc finger 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18372903 |
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NCBI chr 4:81,879,501...82,183,237
Ensembl chr 4:81,881,061...82,183,100
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G |
Kcnj11 |
potassium inwardly-rectifying channel, subfamily J, member 11 |
susceptibility |
ISO IEP |
polymorphisms in the human gene are linked to altered insulin secretion; E23K polymorphism appears to confer susceptibility to diabetes type-2 in Caucasian population DNA:polymorphism: :p.E23K (human) DNA:SNP DNA:missense mutation::p.E23K (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:heart ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus |
CTD ClinVar OMIM RGD |
PMID:1422196 PMID:9867219 PMID:11318841 PMID:11395395 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12524280 PMID:12540637 PMID:12540638 PMID:14715863 PMID:14871556 PMID:15111507 PMID:15448107 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15807877 PMID:15855351 PMID:15998776 PMID:16123366 PMID:16166157 PMID:16332676 PMID:16455067 PMID:16670688 PMID:17021801 PMID:17114887 PMID:17257281 PMID:17327377 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17673911 PMID:17823772 PMID:17956278 PMID:18250167 PMID:18414213 PMID:18559200 PMID:18758683 PMID:18767144 PMID:19214942 PMID:19233137 PMID:19357197 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20049716 PMID:20301620 PMID:20424228 PMID:20589481 PMID:20685672 PMID:20686794 PMID:20980454 PMID:21115269 PMID:21573802 PMID:21765448 PMID:22005014 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22289434 PMID:22311976 PMID:22512215 PMID:22591706 PMID:22619292 PMID:22701567 PMID:22704848 PMID:22958899 PMID:23226049 PMID:23275527 PMID:23345197 PMID:23462667 PMID:24383515 PMID:24401662 PMID:24421282 PMID:24434300 PMID:24686051 PMID:25201519 PMID:25555642 PMID:25637631 PMID:25639667 PMID:25741868 PMID:25741914 PMID:25972930 PMID:26448950 PMID:26467025 PMID:26545876 PMID:26839896 PMID:27118464 PMID:27181376 PMID:27188453 PMID:27908292 PMID:28173619 PMID:28262438 PMID:28270372 PMID:28350539 PMID:28352326 PMID:28442472 PMID:28492532 PMID:28766502 PMID:28938416 PMID:29216354 PMID:29361385 PMID:29454299 PMID:29893194 PMID:30377186 PMID:31195986 PMID:31218401 PMID:32027066 PMID:32418263 PMID:32792356 PMID:32935446 PMID:33046911 PMID:33762279 PMID:33852230 PMID:33853507 PMID:34465386 PMID:34566892 PMID:35402560 PMID:36208030 PMID:15565284 PMID:19498446 PMID:19502414 PMID:17259403 PMID:24681897 More...
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RGD:2313610, RGD:2311534, RGD:2311533, RGD:2313628, RGD:12790969 |
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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G |
Kcnk16 |
potassium two pore domain channel subfamily K member 16 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22158537 |
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NCBI chr15:4,042,506...4,049,652
Ensembl chr15:4,042,506...4,049,652
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G |
Kcnmb1 |
potassium calcium-activated channel subfamily M regulatory beta subunit 1 |
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IEP |
protein:decreased expression:aorta |
RGD |
PMID:18790848 |
RGD:10412045 |
NCBI chr10:18,557,510...18,614,824
Ensembl chr10:18,557,904...18,565,798
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G |
Kcnn4 |
potassium calcium-activated channel subfamily N member 4 |
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IEP |
protein:increased expression:aorta (rat) |
RGD |
PMID:21463632 |
RGD:401794561 |
NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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G |
Kcnq1 |
potassium voltage-gated channel subfamily Q member 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism associated with Environmental Illness; DNA:SNP:: (rs163184) (human) |
CTD RGD |
PMID:18711366 PMID:18711367 PMID:26551672 PMID:27281273 |
RGD:401850598 |
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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G |
Kcnu1 |
potassium calcium-activated channel subfamily U member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr16:66,141,696...66,229,493
Ensembl chr16:66,141,976...66,229,465
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G |
Kdr |
kinase insert domain receptor |
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ISO |
protein:decreased expression:skin, blood vessel |
RGD |
PMID:17898089 |
RGD:5684411 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Kif6 |
kinesin family member 6 |
sexual_dimorphism |
ISO |
DNA:SNP: :p.W719R (rs20455) (human) |
RGD |
PMID:25629058 |
RGD:243048454 |
NCBI chr 9:11,076,203...11,373,205
Ensembl chr 9:11,072,824...11,373,006
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G |
Kl |
Klotho |
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IEP ISO |
mRNA:decreased expression:kidney: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28869590 PMID:23967103 |
RGD:10044235 |
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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G |
Klf11 |
KLF transcription factor 11 |
|
ISO |
DNA:polymorphisms: :p.Q62R, p.A347S, p.T220M (human) ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar RGD |
PMID:15774581 PMID:18199129 PMID:25741868 PMID:28492532 PMID:34393998 PMID:15774581 More...
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RGD:2311540 |
NCBI chr 6:41,285,699...41,297,548
Ensembl chr 6:41,285,842...41,297,550
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G |
Klf14 |
KLF transcription factor 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29632379 |
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NCBI chr 4:59,554,011...59,556,933
Ensembl chr 4:59,554,011...59,556,933
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G |
Kmt2d |
lysine methyltransferase 2D |
|
ISO |
|
RGD |
PMID:23826075 |
RGD:9588237 |
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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G |
Ksr2 |
kinase suppressor of ras 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus |
CTD ClinVar |
PMID:24209692 PMID:25741868 PMID:30718926 |
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NCBI chr12:38,802,796...39,187,809
Ensembl chr12:38,802,004...39,188,375
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G |
Lcn2 |
lipocalin 2 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:19949414 |
RGD:126779589 |
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G |
Lep |
leptin |
susceptibility |
IMP ISO ISS |
CTD Direct Evidence: therapeutic DNA:SNP,haplotype:promoter,3'utr: -632G>A, +4998A>C (human) OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
CTD MouseDO RGD |
PMID:15070752 PMID:19289493 PMID:18564365 |
RGD:2311130, RGD:2311139 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Lepr |
leptin receptor |
susceptibility treatment |
ISO IAGP ISS |
DNA:insertion:3' utr (human) DNA:polymorphisms (human) CTD Direct Evidence: marker/mechanism associated with nonalcoholic fatty liver disease;DNA:intron:c.2673+1118C>T (rs6700896) (human) OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 DNA:mutations:cds: : (rat) |
CTD MouseDO RGD |
PMID:20175764 PMID:22933112 PMID:24263156 PMID:26939912 PMID:17065694 PMID:18439701 PMID:16284652 PMID:23154293 PMID:22215535 PMID:32710530 More...
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RGD:2311144, RGD:2311141, RGD:10412018, RGD:13432147, RGD:14696694, RGD:401960103 |
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Leprfa |
leptin receptor; fa mutant |
|
IAGP |
|
RGD |
PMID:23154293 |
RGD:13432147 |
|
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G |
Lgals4 |
galectin 4 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,124,766...84,132,481
Ensembl chr 1:84,124,764...84,132,481
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G |
Lgals5 |
galectin 5 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
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G |
Lgals7 |
galectin 7 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,148,612...84,152,016
Ensembl chr 1:84,150,252...84,152,015
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G |
Lipc |
lipase C, hepatic type |
susceptibility |
ISO |
DNA:transition:promoter:-250G>A (human) protein:increased expression:plasma (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus |
OMIM CTD ClinVar RGD |
PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 PMID:15126514 PMID:15656877 PMID:18364377 PMID:21986251 PMID:23685560 PMID:24033266 PMID:24497850 PMID:24633158 PMID:25741868 PMID:25995285 PMID:28492532 PMID:28870971 PMID:30333156 PMID:32041611 PMID:15656877 PMID:16429317 More...
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RGD:2308830, RGD:2308826 |
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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G |
Lipe |
lipase E, hormone sensitive type |
|
ISO |
mRNA:decreased expression:subcutaneous adipose tissue |
RGD |
PMID:15609025 |
RGD:2313584 |
NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
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|
G |
Lmna |
lamin A/C |
no_association |
ISO |
DNA:SNPs |
RGD |
PMID:17327461 PMID:17327437 |
RGD:1624984, RGD:1624985 |
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Lnpep |
leucyl and cystinyl aminopeptidase |
|
ISO IDA |
|
RGD |
PMID:11701721 PMID:16967782 |
RGD:2311542, RGD:2306436 |
NCBI chr 1:58,258,642...58,355,532
Ensembl chr 1:58,258,642...58,354,544
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|
G |
Lpl |
lipoprotein lipase |
treatment |
ISO IEP |
associated with Obesity DNA:SNP:intron:13836C>A (rs343) (human) |
RGD |
PMID:8641022 PMID:18321693 PMID:18985010 PMID:29981201 |
RGD:1580537, RGD:2313304, RGD:2313298, RGD:13793399 |
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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G |
Lrfn1 |
leucine rich repeat and fibronectin type III domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,742,442...83,761,450
Ensembl chr 1:83,682,964...83,761,449
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G |
Lta |
lymphotoxin alpha |
onset no_association |
ISO |
DNA:polymorphism: :p.T60N (human) |
RGD |
PMID:15729581 PMID:16132956 |
RGD:1625033, RGD:2313261 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
Madd |
MAP-kinase activating death domain |
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ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
|
|
NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
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G |
Maea |
macrophage erythroblast attacher, E3 ubiquitin ligase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22158537 |
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NCBI chr14:77,357,261...77,390,683
Ensembl chr14:77,357,264...77,390,671
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G |
Mafa |
MAF bZIP transcription factor A |
|
ISO ISS |
protein:decreased expression:islet: protein:decreased expression:beta cells of pancrea OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO RGD |
PMID:24013263 PMID:20424231 |
RGD:13506742, RGD:13506745 |
NCBI chr 7:107,432,292...107,435,084
Ensembl chr 7:107,433,605...107,434,690
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G |
Map1lc3a |
microtubule-associated protein 1 light chain 3 alpha |
treatment |
IEP |
|
RGD |
PMID:21820301 |
RGD:11561956 |
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
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G |
Map3k10 |
mitogen activated protein kinase kinase kinase 10 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,955,784...82,974,084
Ensembl chr 1:82,955,207...82,974,084
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G |
Map3k8 |
mitogen-activated protein kinase kinase kinase 8 |
|
ISO |
protein:increased activity:serum: |
RGD |
PMID:28724746 |
RGD:151356966 |
NCBI chr17:53,382,908...53,403,216
Ensembl chr17:53,383,131...53,403,216
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G |
Mapk1 |
mitogen activated protein kinase 1 |
treatment |
ISO IDA |
protein:hyperphosphorylation:pancreas: protein:increased expression:dorsal horn: protein:hypophosphorylation:pancreatic islet: |
RGD |
PMID:26860984 PMID:27259299 PMID:28757391 PMID:21911753 PMID:19164460 |
RGD:13506775, RGD:13506776, RGD:13506777, RGD:13506785, RGD:13506786 |
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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G |
Mapk3 |
mitogen activated protein kinase 3 |
treatment |
IDA ISO |
protein:hypophosphorylation:pancreatic islet: protein:hyperphosphorylation:pancreas: protein:increased expression:dorsal horn: |
RGD |
PMID:21911753 PMID:26860984 PMID:27259299 PMID:28757391 PMID:19164460 |
RGD:13506785, RGD:13506775, RGD:13506776, RGD:13506777, RGD:13506786 |
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
|
IDA ISO |
protein:hyperphosphorylation:pancreatic islet: |
RGD |
PMID:21911753 PMID:21911753 |
RGD:13506785, RGD:13506785 |
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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G |
Mapk8ip1 |
mitogen-activated protein kinase 8 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10700186 |
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NCBI chr 3:78,355,051...78,372,946
Ensembl chr 3:78,355,048...78,372,884
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G |
Mapk9 |
mitogen-activated protein kinase 9 |
|
IDA ISO |
protein:hyperphosphorylation:pancreatic islet: |
RGD |
PMID:21911753 PMID:21911753 |
RGD:13506785, RGD:13506785 |
NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178
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G |
Mat1a |
methionine adenosyltransferase 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23665415 |
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NCBI chr16:16,983,084...17,001,284
Ensembl chr16:16,983,022...17,001,274
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G |
Matn4 |
matrilin 4 |
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ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
|
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NCBI chr 3:153,120,605...153,135,628
Ensembl chr 3:153,120,632...153,135,865
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G |
Med29 |
mediator complex subunit 29 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,677,961...83,683,365
Ensembl chr 1:83,677,961...83,683,365
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G |
Mfn2 |
mitofusin 2 |
|
ISO |
mRNA:decreased expression:skeletal muscle tissue (human) |
RGD |
PMID:16123358 |
RGD:13204820 |
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Mif |
macrophage migration inhibitory factor |
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IEP |
mRNA, protein:increased expression:kidney cortex, epithelial cell |
RGD |
PMID:16571782 |
RGD:1641984 |
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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G |
Mir10b |
microRNA 10b |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 3:59,628,438...59,628,546
Ensembl chr 3:59,628,438...59,628,546
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G |
Mir122 |
microRNA 122 |
|
ISO |
miRNA:increased expression:serum |
RGD |
PMID:27899485 |
RGD:14401601 |
NCBI chr18:58,758,703...58,758,787
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G |
Mir1249 |
microRNA 1249 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 7:116,075,593...116,075,712
Ensembl chr 7:116,075,593...116,075,712
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G |
Mir125b1 |
microRNA 125b-1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
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NCBI chr 8:41,952,966...41,953,052
Ensembl chr 8:41,952,966...41,953,052
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G |
Mir126a |
microRNA 126a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
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NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
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G |
Mir127 |
microRNA 127 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 6:128,546,215...128,546,311
Ensembl chr 6:128,546,215...128,546,311
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G |
Mir1306 |
microRNA 1306 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
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G |
Mir130b |
microRNA 130b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
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NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244
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G |
Mir140 |
microRNA 140 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
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NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
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G |
Mir141 |
microRNA 141 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
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G |
Mir142 |
microRNA 142 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
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NCBI chr10:72,557,864...72,557,950
Ensembl chr10:72,557,857...72,557,967
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G |
Mir144 |
microRNA 144 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr10:62,961,348...62,961,430
Ensembl chr10:62,961,348...62,961,430
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G |
Mir146b |
microRNA 146b |
|
ISO |
RNA:increased expression:arteriole |
RGD |
PMID:29374012 |
RGD:13702880 |
NCBI chr 1:245,203,438...245,203,525
Ensembl chr 1:245,203,438...245,203,525
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G |
Mir151 |
microRNA 151 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 7:105,172,377...105,172,473
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G |
Mir155 |
microRNA 155 |
|
ISO |
miRNA:decreased expression:serum |
RGD |
PMID:30852102 PMID:27711113 |
RGD:21079478, RGD:25671464 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Mir181c |
microRNA 181c |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr19:23,983,523...23,983,628
Ensembl chr19:23,983,523...23,983,628
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G |
Mir192 |
microRNA 192 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
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NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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G |
Mir195 |
microRNA 195 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
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NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
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G |
Mir200a |
microRNA 200a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 5:166,648,494...166,648,582
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G |
Mir204 |
microRNA 204 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 1:220,316,931...220,317,040
Ensembl chr 1:220,316,931...220,317,040
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G |
Mir205 |
microRNA 205 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr13:105,035,878...105,035,985
Ensembl chr13:105,035,878...105,035,985
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G |
Mir214 |
microRNA 214 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481
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G |
Mir221 |
microRNA 221 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573
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G |
Mir222 |
microRNA 222 |
|
ISO IEP |
CTD Direct Evidence: marker/mechanism associated with Femoral Fractures;RNA:increased expression:femur |
CTD RGD |
PMID:24478399 PMID:28545106 PMID:31691506 |
RGD:151893486 |
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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G |
Mir223 |
microRNA 223 |
severity |
ISO |
RNA:increased expression:pancreatic islet |
RGD |
PMID:31118273 PMID:31118273 |
RGD:25823139, RGD:25823139 |
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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G |
Mir27a |
microRNA 27a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917
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G |
Mir29a |
microRNA 29a |
|
ISO |
RNA:increased expression:arteriole RNA:incrased expression:blood serum (human) |
RGD |
PMID:29374012 PMID:33116722 |
RGD:13702880, RGD:243048436 |
NCBI chr 4:59,650,608...59,650,695
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G |
Mir29b1 |
microRNA 29b-1 |
|
ISO |
RNA:increased expression:arteriole RNA:increased expression:blood serum (human) |
RGD |
PMID:29374012 PMID:33116722 |
RGD:13702880, RGD:243048436 |
NCBI chr 4:59,650,987...59,651,067
Ensembl chr 4:59,650,986...59,651,067
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G |
Mir30a |
microRNA 30a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
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G |
Mir339 |
microRNA 339 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr12:15,277,546...15,277,641
Ensembl chr12:15,277,546...15,277,641
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G |
Mir375 |
microRNA 375 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
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G |
Mir377 |
microRNA 377 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 6:128,755,051...128,755,122
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G |
Mir409 |
microRNA 409 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858
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G |
Mir423 |
microRNA 423 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
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NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226
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G |
Mir487b |
microRNA 487b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 6:128,741,485...128,741,566
Ensembl chr 6:128,741,485...128,741,566
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G |
Mir532 |
microRNA 532 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
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NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
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G |
Mir628 |
microRNA 628 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 8:73,739,846...73,739,929
Ensembl chr 8:73,739,846...73,739,929
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G |
Mir92b |
microRNA 92b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 2:174,633,890...174,633,972
Ensembl chr 2:174,633,890...174,633,972
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G |
Mir98 |
microRNA 98 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr X:20,981,235...20,981,342
Ensembl chr X:20,981,235...20,981,342
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G |
Mirlet7d |
microRNA let-7d |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr17:16,115,893...16,115,990
Ensembl chr17:16,115,893...16,115,990
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G |
Mki67 |
marker of proliferation Ki-67 |
|
IEP |
protein:increased expression:hippocampus |
RGD |
PMID:20045412 |
RGD:2317709 |
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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G |
Mlxipl |
MLX interacting protein-like |
|
IEP |
protein:increased expression:liver (rat) |
RGD |
PMID:30029691 |
RGD:401799626 |
NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO IEP |
protein:decreased expression:renal glomerulus (human) protein:increased expression:nucleus pulposus |
RGD |
PMID:19506087 PMID:19951028 |
RGD:2312464, RGD:7207379 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:17320450 |
RGD:7207195 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp3 |
matrix metallopeptidase 3 |
treatment |
IEP |
|
RGD |
PMID:23204894 |
RGD:8694120 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO IEP |
protein:increased expression:plasma (human) |
RGD |
PMID:17320450 PMID:18552985 PMID:23204894 |
RGD:7207195, RGD:8547849, RGD:8694120 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mpst |
mercaptopyruvate sulfurtransferase |
|
IEP |
|
RGD |
PMID:20127051 |
RGD:5134362 |
NCBI chr 7:109,955,581...109,963,155
Ensembl chr 7:109,955,675...109,963,141
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|
G |
Mras |
muscle RAS oncogene homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr 8:99,944,036...100,006,771
Ensembl chr 8:99,944,036...99,996,408
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G |
Mrps12 |
mitochondrial ribosomal protein S12 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,025,896...84,028,896
Ensembl chr 1:84,025,899...84,028,780
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|
G |
Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
|
IEP |
mRNA:decreased expression:soleus |
RGD |
PMID:14563825 |
RGD:2300410 |
NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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G |
Mt-cyb |
mitochondrially encoded cytochrome b |
|
IEP |
mRNA:decreased expression:pancreatic islet |
RGD |
PMID:7588317 |
RGD:2298962 |
NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
|
|
G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
IEP ISO |
mRNA, protein:decreased expression:soleus, mitochondrion DNA:polymorphism: :3316G>A, 3394T>C (human) DNA:SNP: :3394T>C (human) |
RGD |
PMID:14563825 PMID:15265369 PMID:18679013 |
RGD:2300410, RGD:2311592, RGD:2311583 |
NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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G |
Mt2A |
metallothionein 2A |
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ISO |
associated with Atherosclerosis; DNA:snp:promoter:g.-209A>G (human) DNA:missense mutation:cds:p.K51R (rs8052394) (human) |
RGD |
PMID:16518702 PMID:18349110 |
RGD:6483843, RGD:6483853 |
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility no_association |
ISO |
DNA:transition:cds:g.677C>T (human) DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) |
RGD |
PMID:21186995 PMID:19996639 PMID:16828193 |
RGD:6893476, RGD:6893653, RGD:6893657 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Mtnr1a |
melatonin receptor 1A |
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IEP |
mRNA:increased expression:pancreas |
RGD |
PMID:16441550 |
RGD:2301037 |
NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919
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G |
Mtnr1b |
melatonin receptor 1B |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to |
CTD ClinVar OMIM RGD |
PMID:19060907 PMID:19060908 PMID:19060909 PMID:22286214 PMID:26551672 PMID:19060908 More...
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RGD:9588652 |
NCBI chr 8:12,638,219...12,652,737
Ensembl chr 8:12,638,219...12,652,737
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G |
Mtor |
mechanistic target of rapamycin kinase |
susceptibility |
ISO IEP |
DNA:SNP: :rs7212142(human) mRNA,protein:increased expression:hippocampus |
RGD |
PMID:28536139 PMID:23165862 |
RGD:13506787, RGD:13506788 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
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IEP |
|
RGD |
PMID:21818837 |
RGD:7207079 |
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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G |
Nampt |
nicotinamide phosphoribosyltransferase |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:18410550 |
RGD:2311099 |
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
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G |
Nccrp1 |
NCCRP1, F-box associated domain containing |
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ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,835,083...83,838,620
Ensembl chr 1:83,835,083...83,838,676
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G |
Ncoa6 |
nuclear receptor coactivator 6 |
|
IEP |
mRNA:decreased expression:pancreatic islet (rat) |
RGD |
PMID:16738321 |
RGD:9590126 |
NCBI chr 3:143,890,896...143,961,916
Ensembl chr 3:143,890,896...143,952,268
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G |
Neurod1 |
neuronal differentiation 1 |
onset no_association susceptibility |
ISO |
DNA:missense mutation: :p.E110K (human DNA:polymorphism: :p.A45T (human) DNA:missense mutation: :p.S159P (human) DNA:missense mutation, nonsense mutation (human) associated with Obesity;DNA:missense mutation: :p.H241Q (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: NEUROD1-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus |
CTD ClinVar OMIM RGD |
PMID:10545951 PMID:16123366 PMID:25741868 PMID:28492532 PMID:28664602 PMID:34556497 PMID:11719843 PMID:16773428 PMID:17440689 PMID:15592940 PMID:10545951 PMID:18331410 More...
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RGD:2313488, RGD:2313482, RGD:2313480, RGD:2313486, RGD:2313489, RGD:2313478 |
NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649
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G |
Neurog3 |
neurogenin 3 |
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ISO |
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RGD |
PMID:17146417 |
RGD:2313775 |
NCBI chr20:30,079,780...30,081,262
Ensembl chr20:30,079,780...30,081,262
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G |
Nfatc2 |
nuclear factor of activated T-cells 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
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NCBI chr 3:157,195,970...157,328,640
Ensembl chr 3:157,198,872...157,328,325
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G |
Nfe2l1 |
NFE2 like bZIP transcription factor 1 |
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ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
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NCBI chr10:81,796,055...81,812,926
Ensembl chr10:81,800,366...81,832,318
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
treatment |
IEP |
|
RGD |
PMID:23954466 |
RGD:10412692 |
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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G |
Nfkb1 |
nuclear factor kappa B subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17107852 |
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NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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G |
Nfkbib |
NFKB inhibitor beta |
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ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:84,046,292...84,053,862
Ensembl chr 1:84,046,295...84,053,862
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G |
Nkx6-1 |
NK6 homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
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NCBI chr14:7,969,756...7,976,689
Ensembl chr14:7,969,756...7,976,681
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G |
Nog |
noggin |
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IEP |
mRNA, protein:increased expression:aorta |
RGD |
PMID:21193740 |
RGD:10430114 |
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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G |
Nos1 |
nitric oxide synthase 1 |
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IEP |
|
RGD |
PMID:16323284 |
RGD:1581689 |
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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G |
Nos2 |
nitric oxide synthase 2 |
susceptibility |
ISO IEP |
DNA:insertion/deletion, repeat:promoter (human) protein:increased expression:retina protein:increased expression:liver (mouse) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16959961 PMID:19395279 PMID:18773271 PMID:21963495 |
RGD:2312484, RGD:2313220, RGD:5508747 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Nos3 |
nitric oxide synthase 3 |
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IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12716763 PMID:16959961 PMID:18356581 |
RGD:2292097 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Notch2 |
notch receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18372903 |
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NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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G |
Nppa |
natriuretic peptide A |
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ISO |
|
RGD |
PMID:19675071 |
RGD:2313586 |
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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G |
Nppb |
natriuretic peptide B |
|
IEP ISO |
protein:increased expression:plasma protein:increased expression:serum |
RGD |
PMID:18192848 PMID:22037102 |
RGD:2293330, RGD:5685645 |
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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G |
Npy |
neuropeptide Y |
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ISO |
DNA:missense mutation:cds:p.L7P (human) |
RGD |
PMID:15926114 |
RGD:1580183 |
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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G |
Nr0b2 |
nuclear receptor subfamily 0, group B, member 2 |
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ISO |
DNA:polymorphisms: :multiple |
RGD |
PMID:18781616 |
RGD:2311604 |
NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
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G |
Nr1d1 |
nuclear receptor subfamily 1, group D, member 1 |
treatment |
IEP |
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RGD |
PMID:23637135 |
RGD:10448992 |
NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
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G |
Nr1h2 |
nuclear receptor subfamily 1, group H, member 2 |
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ISO |
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RGD |
PMID:20939869 |
RGD:13506790 |
NCBI chr 1:95,041,967...95,047,358
Ensembl chr 1:95,041,967...95,047,377
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G |
Nr1h3 |
nuclear receptor subfamily 1, group H, member 3 |
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ISO |
mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:28871240 |
RGD:401850555 |
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
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IDA |
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RGD |
PMID:17292727 |
RGD:4892117 |
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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G |
Nucb2 |
nucleobindin 2 |
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ISO IEP |
mRNA:decreased expression:islet of Langerhans: protein:decreased expression:pancreas: |
RGD |
PMID:22108805 PMID:20032201 |
RGD:9831161, RGD:9831177 |
NCBI chr 1:170,750,830...170,787,356
Ensembl chr 1:170,750,877...170,787,353
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G |
Nus1 |
NUS1 dehydrodolichyl diphosphate synthase subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 PMID:33812996 |
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NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
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ISO |
protein:increased expression:pancreatic islet, mitochondrion CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22652274 PMID:12003641 |
RGD:2317133 |
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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G |
Oxct1 |
3-oxoacid CoA transferase 1 |
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IEP |
mRNA, protein:decreased expression, decreased activity:pancreatic islets (rat) |
RGD |
PMID:20460097 |
RGD:2326185 |
NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714
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G |
P2ry12 |
purinergic receptor P2Y12 |
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ISO |
|
RGD |
PMID:15483100 |
RGD:6480536 |
NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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G |
Paf1 |
PAF1 homolog, Paf1/RNA polymerase II complex component |
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ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,683,654...83,689,233
Ensembl chr 1:83,668,813...83,689,237
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G |
Pak4 |
p21 (RAC1) activated kinase 4 |
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ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,849,904...83,889,188
Ensembl chr 1:83,849,904...83,859,413
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G |
Pam |
peptidylglycine alpha-amidating monooxygenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24464100 PMID:30054598 |
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NCBI chr 9:97,998,581...98,271,966
Ensembl chr 9:98,122,916...98,271,965
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G |
Pappa |
pappalysin |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:17728480 |
RGD:2313776 |
NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
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G |
Parl |
presenilin associated, rhomboid-like |
onset |
ISO |
DNA:missense mutation:cds:p.L262V (human) mRNA:decreased expression:vastus lateralis (human) |
RGD |
PMID:19185381 PMID:20444421 |
RGD:12880445, RGD:12902628 |
NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
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ISO |
|
RGD |
PMID:15895395 |
RGD:11075068 |
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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G |
Pax4 |
paired box 4 |
onset susceptibility |
ISO IMP |
DNA:polymorphism, mutations: :p.R192H, p.R164W, IVS7-1G>A (human) DNA:mutation: :p.R121W (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus |
CTD ClinVar OMIM RGD |
PMID:9536098 PMID:11723072 PMID:15596543 PMID:16423628 PMID:17576681 PMID:18414213 PMID:21263211 PMID:25741868 PMID:25951767 PMID:27334367 PMID:28492532 PMID:31264968 PMID:32801813 PMID:33031055 PMID:17426099 PMID:12604352 More...
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RGD:2311632, RGD:2311635 |
NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
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G |
Pax6 |
paired box 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Pc |
pyruvate carboxylase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
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NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
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G |
Pck1 |
phosphoenolpyruvate carboxykinase 1 |
no_association |
ISO IDA |
DNA:SNPs (human) |
RGD |
PMID:18443203 PMID:17242918 PMID:19070910 PMID:16978381 PMID:16620271 |
RGD:2311640, RGD:2311643, RGD:2311639, RGD:1601239, RGD:1601241 |
NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
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G |
Pcsk1 |
proprotein convertase subtilisin/kexin type 1 |
no_association |
IDA IEP ISO |
protein:altered expression:pancreatic islet (rat) DNA:missense mutations:cds:p.R53Q, p.Q638E (human) protein:decreased expression:pancreatic islet (mouse) protein:increased expression:pancreatic alpha cell (mouse) |
RGD |
PMID:17630003 PMID:12475375 PMID:8666140 PMID:18448419 PMID:18941442 |
RGD:2308898, RGD:2298715, RGD:2308935, RGD:2308932, RGD:2308930 |
NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
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G |
Pcsk2 |
proprotein convertase subtilisin/kexin type 2 |
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ISO |
DNA:repeats:intron:IVS2CA (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16123366 PMID:7698505 |
RGD:2308936 |
NCBI chr 3:130,880,422...131,183,127
Ensembl chr 3:130,880,422...131,183,127
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G |
Pdcd1 |
programmed cell death 1 |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:23219834 |
RGD:7248672 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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G |
Pdx1 |
pancreatic and duodenal homeobox 1 |
no_association susceptibility |
ISO IEP |
protein:decreased expression:pancreas (rat) protein:increased expression:pancreatic duct (mouse) DNA:insertion, polymorphism:cds:InsCCG243, Q59L, D76N (human) mRNA:increased expression:pancreatic islet (human) DNA:polymorphism:cds:D76N (human) DNA:deletion:exon 2 (mouse) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus |
CTD RGD ClinVar OMIM |
PMID:10545530 PMID:10545531 PMID:10720084 PMID:11022198 PMID:11270685 PMID:11315851 PMID:11914043 PMID:12618559 PMID:12970316 PMID:14764823 PMID:15001545 PMID:15170499 PMID:15277425 PMID:15754742 PMID:16092045 PMID:16123366 PMID:16741735 PMID:17126328 PMID:17592437 PMID:19228875 PMID:19515026 PMID:20301620 PMID:21569088 PMID:24097065 PMID:24464100 PMID:25041077 PMID:25741868 PMID:26058934 PMID:26467025 PMID:27535533 PMID:27879211 PMID:27879214 PMID:27884173 PMID:28095440 PMID:28492532 PMID:28609558 PMID:29439679 PMID:30191644 PMID:30709774 PMID:30930126 PMID:31264968 PMID:19371350 PMID:17764693 PMID:9075799 PMID:10545531 PMID:15734849 PMID:15170499 PMID:9637677 More...
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RGD:2311308, RGD:2311305, RGD:2311219, RGD:2311221, RGD:2311307, RGD:2311306, RGD:2311308, RGD:2311217 |
NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
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G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
|
ISO |
protein:increased expression:bone marrow stem cell (mouse) |
RGD |
PMID:21984919 |
RGD:6771358 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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G |
Pepd |
peptidase D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22158537 |
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NCBI chr 1:87,536,650...87,681,233
Ensembl chr 1:87,536,609...87,681,231
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G |
Phox2a |
paired-like homeobox 2a |
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ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
|
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NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118
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G |
Pik3c2a |
phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha |
|
ISO |
mRNA:decreased expression:Islets of Langerhans |
RGD |
PMID:21127054 |
RGD:7243008 |
NCBI chr 1:170,577,942...170,684,353
Ensembl chr 1:170,577,942...170,683,472
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G |
Pik3c2g |
phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma |
susceptibility |
ISO |
DNA:SNP:cds:437C>T(human) |
RGD |
PMID:17991425 |
RGD:13506796 |
NCBI chr 4:172,483,752...172,851,623
Ensembl chr 4:172,484,345...172,850,544
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G |
Pik3cb |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta |
treatment |
ISO |
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RGD |
PMID:11812753 |
RGD:13506799 |
NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31626838 |
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NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
susceptibility |
IEP ISO |
protein:increased phosphorylation:retina (rat) DNA:polymorphism: : |
RGD |
PMID:18443201 PMID:14551916 |
RGD:4108490, RGD:11067972 |
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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G |
Pklr |
pyruvate kinase L/R |
susceptibility no_association |
ISO |
DNA:SNPs:introns,exons: DNA:SNP: :rs3020781(human) |
RGD |
PMID:12196482 PMID:19111066 |
RGD:13506801, RGD:13506802 |
NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
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G |
Pla2g7 |
phospholipase A2 group VII |
|
ISO |
|
RGD |
PMID:22399516 |
RGD:6482782 |
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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G |
Plat |
plasminogen activator, tissue type |
|
ISO IEP |
associated with Obesity mRNA:decreased expression:kidney protein:decreased expression:plasma (rat) |
RGD |
PMID:16724515 PMID:15901895 PMID:14693179 PMID:16038272 PMID:18235054 PMID:10899350 More...
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RGD:2311670, RGD:2311673, RGD:2311675, RGD:2311672, RGD:2311665, RGD:1598920 |
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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G |
Plaur |
plasminogen activator, urokinase receptor |
onset |
ISO |
protein:increased expression:plasma |
RGD |
PMID:22050462 |
RGD:6483792 |
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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G |
Pld3 |
phospholipase D family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
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G |
Plekha1 |
pleckstrin homology domain containing A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr 1:185,427,982...185,479,157
Ensembl chr 1:185,428,048...185,479,156
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|
G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
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G |
Pln |
phospholamban |
|
IEP |
mRNA:decreased expression:heart left ventricle |
RGD |
PMID:22621761 |
RGD:7327183 |
NCBI chr20:32,629,537...32,639,559
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G |
Pnpla3 |
patatin-like phospholipase domain containing 3 |
|
ISO |
DNA:SNP: :rs738409 (p.I148M) (human) |
RGD |
PMID:31377187 |
RGD:14981594 |
NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077
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G |
Pomc |
proopiomelanocortin |
|
IEP |
associated with alcohol use disorder |
RGD |
PMID:33057655 |
RGD:407431647 |
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Pon1 |
paraoxonase 1 |
severity no_association |
ISO |
protein:decreased expression:serum protein:increased expression:serum DNA:polymorphism: :p.Q192R (human) associated with Diabetic Retinopathy;DNA:missense mutations:cds:p.L55M, p.Q192R (human) |
RGD |
PMID:17949258 PMID:19328014 PMID:18290860 PMID:10677395 PMID:9591753 |
RGD:2313270, RGD:2307252, RGD:2313269, RGD:8547560, RGD:8547663 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Pon2 |
paraoxonase 2 |
|
ISO |
DNA:missense mutation:cds:p.S311C (human) associated with Diabetic Retinopathy;DNA:missense mutation:cds:p.C310S (human) |
RGD |
PMID:18776646 PMID:10677395 |
RGD:2313490, RGD:8547560 |
NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17317762 PMID:31626838 |
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NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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G |
Ppard |
peroxisome proliferator-activated receptor delta |
|
ISO ISS |
DNA:SNPs OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO RGD |
PMID:16804087 |
RGD:1625186 |
NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
susceptibility no_association |
ISO |
DNA:polymorphism: :p.P12A (human) DNA:snp:cds:p.P12A (human) CTD Direct Evidence: marker/mechanism|therapeutic ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus |
OMIM CTD ClinVar RGD |
PMID:9467001 PMID:9792554 PMID:10381354 PMID:10523018 PMID:10622252 PMID:10690291 PMID:10851250 PMID:14569127 PMID:14616762 PMID:14671186 PMID:15254591 PMID:15592662 PMID:16123366 PMID:16249460 PMID:17317762 PMID:21484566 PMID:22461176 PMID:25157153 PMID:25741868 PMID:28182703 PMID:28492532 PMID:31626838 PMID:18394743 PMID:18776709 PMID:18598350 PMID:9918859 More...
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RGD:2301861, RGD:2301846, RGD:2301851, RGD:8552822 |
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
treatment susceptibility no_association |
ISO IDA IEP |
DNA:polymorphism:exon:p.G482S (human) DNA:hypermethylation:promoter:g.-383 (human) protein:decreased expression:vastus lateralis (human) DNA:snps:intron:IVS3+52T>G, IVS3+21963A>G (rs2946385, rs4235308) (human) DNA:polymorphism:exon:p.G482S (human, Pima Indians) protein:decreased expression:dorsal root ganglia mRNA:decreased expression:soleus muscle:type I muscle fiber (rat) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15592662 PMID:17317762 PMID:18270681 PMID:23251491 PMID:23250358 PMID:23210442 PMID:18162502 PMID:12606537 PMID:22824914 PMID:22561641 PMID:17158179 More...
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RGD:2311391, RGD:7241849, RGD:7241851, RGD:7242009, RGD:7242032, RGD:7242043, RGD:7242067, RGD:7242175, RGD:10059689 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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G |
Ppargc1b |
PPARG coactivator 1 beta |
no_association |
ISO |
DNA:polymorphism:exon:102605C>A |
RGD |
PMID:16759305 |
RGD:1642500 |
NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194
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G |
Ppp1r3a |
protein phosphatase 1, regulatory subunit 3A |
no_association onset |
ISO ISS |
DNA:missense mutation:cds:p.D905Y (human) DNA:missense mutation: :p.D905Y (human) DNA:missense mutation::p.D905Y (human) DNA:missense mutations, polymorphisms:CDS, 3' UTR:p.R883S, p.D905Y (human) DNA:insertion/deletion ClinVar Annotator: match by term: Insulin resistance, severe, digenic | ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
OMIM ClinVar CTD MouseDO RGD |
PMID:7581368 PMID:12118251 PMID:25741868 PMID:11793847 PMID:10868947 PMID:10389856 PMID:9726244 PMID:9653600 PMID:12831406 More...
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RGD:2311560, RGD:2311552, RGD:2311532, RGD:2311531, RGD:2311515, RGD:2311596 |
NCBI chr 4:42,937,353...42,980,195
Ensembl chr 4:42,939,599...42,980,638
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G |
Ppp1r3c |
protein phosphatase 1, regulatory subunit 3C |
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ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
|
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NCBI chr 1:234,460,958...234,465,961
Ensembl chr 1:234,460,652...234,465,961
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G |
Ppp2ca |
protein phosphatase 2 catalytic subunit alpha |
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IEP |
mRNA:increased expression:liver, quadriceps, epididymal fat pad (rat) |
RGD |
PMID:22087313 |
RGD:8693665 |
NCBI chr10:36,358,110...36,377,864
Ensembl chr10:36,358,101...36,377,862
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G |
Prkaa1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
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IMP |
|
RGD |
PMID:20054491 |
RGD:2316808 |
NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
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G |
Prkaa2 |
protein kinase AMP-activated catalytic subunit alpha 2 |
susceptibility |
ISO |
DNA:SNPs |
RGD |
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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G |
Prkcb |
protein kinase C, beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15531508 |
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NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
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G |
Prkce |
protein kinase C, epsilon |
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IEP |
mRNA,protein:decreased expression:liver: |
RGD |
PMID:26398746 |
RGD:13506804 |
NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719
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G |
Prkci |
protein kinase C, iota |
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ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
|
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NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352
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G |
Prkcz |
protein kinase C, zeta |
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IEP |
mRNA,protein:decreased expression:liver,pancreas: |
RGD |
PMID:26398746 |
RGD:13506804 |
NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
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IEP |
protein:decreased expression:cerebral cortex (rat) |
RGD |
PMID:28573460 |
RGD:13432564 |
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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G |
Prox1 |
prospero homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20081858 |
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NCBI chr13:101,669,184...101,719,804
Ensembl chr13:101,669,184...101,711,183
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G |
Prx |
periaxin |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
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G |
Psmc4 |
proteasome 26S subunit, ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
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G |
Psmd6 |
proteasome 26S subunit, non-ATPase 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22158537 |
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NCBI chr15:11,102,174...11,112,180
Ensembl chr15:11,102,180...11,205,620
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G |
Ptf1a |
pancreas associated transcription factor 1a |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
|
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NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
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G |
Ptgds |
prostaglandin D2 synthase |
|
IEP |
protein:increased expression:urine |
RGD |
PMID:16384826 |
RGD:1642580 |
NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
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G |
Ptgis |
prostaglandin I2 synthase |
|
ISO |
protein:decreased expression:hypodermis (human) |
RGD |
PMID:24225501 |
RGD:401901153 |
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
IEP |
|
RGD |
PMID:18706904 |
RGD:2300222 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Pth |
parathyroid hormone |
|
ISO |
DNA:snp:exon:g.350C>A rs6256 (human) |
RGD |
PMID:22777106 |
RGD:7242744 |
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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G |
Ptpn1 |
protein tyrosine phosphatase, non-receptor type 1 |
susceptibility no_association |
ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutation:CDS:p.P387L (human) |
OMIM CTD RGD |
PMID:15715684 PMID:11756316 |
RGD:401965404, RGD:401965405 |
NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
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G |
Ptprd |
protein tyrosine phosphatase, receptor type, D |
susceptibility |
ISO |
associated with Environmental Illness; DNA:SNP:intron: (rs16927668) (Human) |
RGD |
PMID:27281273 |
RGD:401850598 |
NCBI chr 5:90,046,993...90,698,977 NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396
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G |
Rarres2 |
retinoic acid receptor responder 2 |
|
IEP |
protein:increased expression:multiple: |
RGD |
PMID:30873215 |
RGD:15036825 |
NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556
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G |
Rbfox2 |
RNA binding fox-1 homolog 2 |
|
ISO |
mRNA:splice variant: heart (human) |
RGD |
PMID:27239029 |
RGD:329845874 |
NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691
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G |
Rbp4 |
retinol binding protein 4 |
susceptibility disease_progression severity |
IEP ISO |
protein:increased expression:serum DNA:polymorphism protein:increased expression:blood plasma (human) mRNA:increased expression:epicardial fat (human) protein:increased expression:blood serum (human) associated with arteriosclerosis and chronic kidney disease;protein:increased expression:blood plasma (human) DNA:SNP:promoter:-803G>A (human) |
RGD |
PMID:19080170 PMID:19506831 PMID:17174134 PMID:24647386 PMID:21645024 PMID:20058618 PMID:20436266 PMID:17875187 PMID:18496666 PMID:18973209 More...
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RGD:2311652, RGD:2311651, RGD:1601615, RGD:329845577, RGD:329845584, RGD:329845844, RGD:329845851, RGD:329845855, RGD:329845878, RGD:329849119 |
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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G |
Rbpj |
recombination signal binding protein for immunoglobulin kappa J region |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:29924900 |
|
NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
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G |
Rbpjl |
recombination signal binding protein for immunoglobulin kappa J region-like |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
|
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NCBI chr 3:153,134,044...153,147,421
Ensembl chr 3:153,134,140...153,146,513
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G |
Reg3b |
regenerating family member 3 beta |
|
IEP |
mRNA:increased expression:islet of Langerhans (rat) |
RGD |
PMID:24587207 |
RGD:9831427 |
NCBI chr 4:110,861,775...110,865,015
Ensembl chr 4:110,861,775...110,865,015
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G |
Retn |
resistin |
no_association susceptibility |
ISO |
DNA:polymorphism: :299G>A (human) DNA:SNP:3' utr:*62A>G (human) DNA:SNP:promoter:-420G>C (rs1862513) (human) protein:increased expression:serum DNA:SNPs:promoter:-394C>G, -420G>C (rs1862513) (human) protein:decreased expression:serum ClinVar Annotator: match by term: HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:11558907 PMID:12629116 PMID:19177195 PMID:12629116 PMID:19738363 PMID:19269054 PMID:19381781 PMID:15523596 More...
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RGD:2313498, RGD:1624968, RGD:2313494, RGD:2313497, RGD:2313495, RGD:7207163 |
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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G |
Rinl |
Ras and Rab interactor-like |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,077,011...84,088,590
Ensembl chr 1:84,077,265...84,088,330
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G |
Rnf6 |
ring finger protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr12:8,816,797...8,826,870
Ensembl chr12:8,816,833...8,826,847
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G |
Rps16 |
ribosomal protein S16 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206
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G |
Rrad |
RRAD, Ras related glycolysis inhibitor and calcium channel regulator |
|
ISO |
associated with Obesity;DNA:polymorphism:intron:4681C>T (human) DNA:repeat:intron (human) |
RGD |
PMID:15161552 PMID:10024077 |
RGD:2311704, RGD:2311705 |
NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417
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G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
|
RGD |
PMID:16331578 |
RGD:2301814 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
S100a6 |
S100 calcium binding protein A6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
|
NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180
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G |
Samd4b |
sterile alpha motif domain containing 4B |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,689,413...83,728,652
Ensembl chr 1:83,689,413...83,713,853
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|
G |
Sars2 |
seryl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,028,972...84,040,725
Ensembl chr 1:84,028,986...84,040,725
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|
G |
Scn1b |
sodium voltage-gated channel beta subunit 1 |
|
IEP |
mRNA:increased expression:heart ventricle |
RGD |
PMID:22581745 |
RGD:6484255 |
NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739
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G |
Sctr |
secretin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
|
NCBI chr13:31,127,781...31,190,162
Ensembl chr13:31,127,858...31,180,189
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|
G |
Sdc2 |
syndecan 2 |
|
ISO |
protein:increased expression:kidney |
RGD |
PMID:14976204 |
RGD:2311706 |
NCBI chr 7:64,127,185...64,239,885
Ensembl chr 7:64,127,110...64,241,081
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|
G |
Sdc4 |
syndecan 4 |
|
ISO |
mRNA:increased expression:kidney ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar RGD |
PMID:14633120 |
RGD:2311707 |
NCBI chr 3:153,154,888...153,173,576
Ensembl chr 3:153,154,896...153,173,580
|
|
G |
Sdf2l1 |
stromal cell-derived factor 2-like 1 |
susceptibility |
IAGP |
DNA:deletion:exons, introns:g.3_910del (rat) |
RGD |
PMID:27463508 |
RGD:11528530 |
NCBI chr11:83,872,659...83,874,902
Ensembl chr11:83,872,659...83,874,902
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G |
Sdhb |
succinate dehydrogenase complex iron sulfur subunit B |
|
ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
|
|
NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
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|
G |
Selenov |
selenoprotein V |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
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|
G |
Sell |
selectin L |
no_association |
ISO |
|
RGD |
PMID:22119815 |
RGD:7175303 |
NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
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|
G |
Selp |
selectin P |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:17598012 |
RGD:2312303 |
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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|
G |
Serpina12 |
serpin family A member 12 |
treatment |
IDA |
|
RGD |
PMID:16030142 |
RGD:1547845 |
NCBI chr 6:122,952,552...122,967,271
Ensembl chr 6:122,952,552...122,967,271
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|
G |
Serpinc1 |
serpin family C member 1 |
|
ISO |
protein:increased activity:plasma (human) |
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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G |
Serpine1 |
serpin family E member 1 |
no_association treatment |
ISO IEP IDA |
DNA:polymorphism: mRNA:increased expression:kidney protein:decreased expression:plasma (human) |
RGD |
PMID:16855181 PMID:19706694 PMID:8236167 PMID:14614217 |
RGD:1624959, RGD:2316116, RGD:8547723, RGD:2312394 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Serpinf1 |
serpin family F member 1 |
treatment severity |
ISO IEP IMP |
protein:increased expression:serum protein:increased expression:plasma (rat) human protein in a rat model |
RGD |
PMID:18715664 PMID:17653050 PMID:24530621 PMID:24530621 |
RGD:2312340, RGD:8554888, RGD:8655541, RGD:8655541 |
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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G |
Sfrp4 |
secreted frizzled-related protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23140642 |
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NCBI chr17:45,278,867...45,330,806
Ensembl chr17:45,234,097...45,330,736
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G |
Sgcg |
sarcoglycan, gamma |
susceptibility |
ISO |
DNA:SNP: : rs9552911(human) |
RGD |
PMID:28123479 |
RGD:13605620 |
NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
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G |
Shbg |
sex hormone binding globulin |
susceptibility |
ISO |
DNA, protein:SNPs, decreased expression:rs6257, rs6259, plasma (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21982312 PMID:19657112 |
RGD:2313782 |
NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
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G |
Sirt1 |
sirtuin 1 |
treatment |
ISO IMP |
associated with Obesity CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23834033 PMID:18046409 PMID:19549853 |
RGD:9585769, RGD:9585997 |
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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G |
Sirt2 |
sirtuin 2 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:84,053,883...84,076,975
Ensembl chr 1:84,052,903...84,076,975
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G |
Sirt3 |
sirtuin 3 |
|
ISO |
mRNA:decreased expression:pancreatic islet |
RGD |
PMID:23397292 |
RGD:9586042 |
NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
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G |
Slc1a2 |
solute carrier family 1 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
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NCBI chr 3:89,005,129...89,135,469
Ensembl chr 3:89,005,129...89,126,498
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G |
Slc22a3 |
solute carrier family 22 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr 1:48,235,476...48,324,617
Ensembl chr 1:48,235,476...48,324,612
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G |
Slc2a1 |
solute carrier family 2 member 1 |
no_association |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9589670 PMID:18613291 PMID:9789717 PMID:7516306 |
RGD:2312306, RGD:2312290, RGD:2312289 |
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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G |
Slc2a2 |
solute carrier family 2 member 2 |
susceptibility |
ISO ISS |
DNA:SNPs (human) DNA:point mutation:exon:p.V197I (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
OMIM CTD ClinVar MouseDO RGD |
PMID:8027028 PMID:8063045 PMID:9354798 PMID:11810292 PMID:13480676 PMID:15397919 PMID:16123366 PMID:16199547 PMID:17636114 PMID:22145468 PMID:24033266 PMID:24718840 PMID:25741868 PMID:26495765 PMID:27035118 PMID:27487919 PMID:28492532 PMID:34669123 PMID:35738466 PMID:17636114 PMID:8027028 More...
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RGD:2312359, RGD:1624252 |
NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
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G |
Slc2a3 |
solute carrier family 2 member 3 |
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ISO |
protein:decreased expression:granulocyte, lymphocyte, monocyte |
RGD |
PMID:19110659 |
RGD:2313602 |
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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G |
Slc2a4 |
solute carrier family 2 member 4 |
|
ISO ISS |
DNA:point mutation:exon:p.V383I (human) CTD Direct Evidence: marker/mechanism OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 ClinVar Annotator: match by term: Type 2 diabetes mellitus |
CTD MouseDO ClinVar RGD |
PMID:1397719 PMID:1918382 PMID:7814014 PMID:11947963 PMID:17107852 PMID:22384078 PMID:25741868 PMID:31626838 PMID:18653321 PMID:1918382 More...
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RGD:2313625, RGD:1625188 |
NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
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G |
Slc30a8 |
solute carrier family 30 member 8 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus |
CTD OMIM ClinVar |
PMID:17293876 PMID:17460697 PMID:17463246 PMID:17463248 PMID:17463249 PMID:19479076 PMID:19542200 PMID:20424817 PMID:21461562 PMID:21779873 PMID:24584071 PMID:25741868 PMID:31676859 More...
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NCBI chr 7:83,591,993...83,627,786
Ensembl chr 7:83,591,993...83,626,305
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G |
Slc9a1 |
solute carrier family 9 member A1 |
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IEP |
mRNA, protein:decreased expression:heart |
RGD |
PMID:22009485 |
RGD:6771327 |
NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
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G |
Slpi |
secretory leukocyte peptidase inhibitor |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
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NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
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G |
Smad4 |
SMAD family member 4 |
treatment |
IEP |
|
RGD |
PMID:25017203 |
RGD:12880049 |
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Smad5 |
SMAD family member 5 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20079400 |
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NCBI chr17:7,862,332...7,891,678
Ensembl chr17:7,864,720...7,891,634
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G |
Smc1a |
structural maintenance of chromosomes 1A |
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IEP |
mRNA:increased expression:testis: |
RGD |
PMID:33775663 |
RGD:155631260 |
NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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G |
Smim43 |
small integral membrane protein 43 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr 2:119,380,454...119,385,966
Ensembl chr 2:119,385,754...119,385,945
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G |
Snap25 |
synaptosome associated protein 25 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
CTD MouseDO |
PMID:16123366 |
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NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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G |
Soat1 |
sterol O-acyltransferase 1 |
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ISO |
mRNA:increased expression:peritoneal macrophage (mouse) |
RGD |
PMID:26606676 |
RGD:126925207 |
NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
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G |
Socs3 |
suppressor of cytokine signaling 3 |
treatment |
ISO IEP |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:17513737 PMID:15331532 PMID:29110587 |
RGD:2313788, RGD:2313790, RGD:13506806 |
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
protein:decreased expression:erythrocyte DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15531508 PMID:19317795 PMID:18423055 PMID:16005359 |
RGD:2312363, RGD:2312364, RGD:1581216 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
DNA:polymorphism: :p.A16V (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15531508 PMID:18423055 |
RGD:2312364 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Sod3 |
superoxide dismutase 3 |
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ISO |
|
RGD |
PMID:15990193 |
RGD:1581225 |
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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G |
Sorbs1 |
sorbin and SH3 domain containing 1 |
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ISO |
DNA:SNP: :p.T228A (human) |
RGD |
PMID:11532984 |
RGD:1642744 |
NCBI chr 1:239,107,882...239,330,276
Ensembl chr 1:239,108,777...239,330,169
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G |
Sphk1 |
sphingosine kinase 1 |
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ISO |
|
RGD |
PMID:17265031 |
RGD:2311390 |
NCBI chr10:101,758,567...101,764,240
Ensembl chr10:101,758,711...101,764,240
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G |
Src |
SRC proto-oncogene, non-receptor tyrosine kinase |
|
ISO IMP |
protein:increased tyrosine phosphorylation:platelets |
RGD |
PMID:15542065 PMID:19230846 |
RGD:1601373, RGD:2307340 |
NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
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G |
Srd5a1 |
steroid 5 alpha-reductase 1 |
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IEP |
mRNA:increased expression:adrenal gland (rat) |
RGD |
PMID:17884440 |
RGD:4891894 |
NCBI chr 1:33,686,069...33,720,468
Ensembl chr 1:33,686,391...33,720,461
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G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
susceptibility |
ISO IEP |
DNA:SNPs mRNA:increased expression:liver |
RGD |
PMID:18692268 PMID:19357831 |
RGD:2308809, RGD:2308802 |
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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G |
Srebf1_v2 |
sterol regulatory element binding factor 1, variant 2 |
|
IEP |
mRNA:increased expression:liver |
RGD |
PMID:19357831 |
RGD:2308802 |
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G |
Srebf2 |
sterol regulatory element binding transcription factor 2 |
|
ISO |
|
RGD |
PMID:15644403 |
RGD:1581419 |
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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G |
St6gal1 |
ST6 beta-galactoside alpha-2,6-sialyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21874001 |
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NCBI chr11:77,526,837...77,653,474
Ensembl chr11:77,526,837...77,653,310
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G |
Star |
steroidogenic acute regulatory protein |
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IEP |
mRNA:decreased expression:testis, Leydig cell (rat) |
RGD |
PMID:18481435 |
RGD:4889107 |
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
protein:increased tyrosine phosphorylation:skeletal muscle |
RGD |
PMID:23043161 |
RGD:8694321 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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G |
Supt5h |
SPT5 homolog, DSIF elongation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
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G |
Sycn |
syncollin |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,823,836...83,833,542
Ensembl chr 1:83,832,102...83,833,538
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G |
Tcf7l2 |
transcription factor 7 like 2 |
susceptibility |
IEP ISO |
DNA:SNPs: :multiple (human) DNA:SNP (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus |
CTD OMIM ClinVar RGD |
PMID:16415884 PMID:17206141 PMID:17245407 PMID:17340123 PMID:17460697 PMID:17463248 PMID:17463249 PMID:17470138 PMID:17503332 PMID:17609304 PMID:17671651 PMID:18097733 PMID:19602480 PMID:20118932 PMID:21673050 PMID:23104008 PMID:25741868 PMID:28869590 PMID:19386626 PMID:19482368 PMID:19509102 More...
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RGD:2312454, RGD:2312453, RGD:2312433 |
NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO IEP |
protein:increased expression:urine mRNA,protein:increased expression:heart: |
RGD |
PMID:18646321 PMID:24613393 |
RGD:2306740, RGD:11073674 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
IEP |
protein:increased expression:aorta |
RGD |
PMID:11947899 |
RGD:1601600 |
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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G |
Th |
tyrosine hydroxylase |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 |
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NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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G |
Thada |
THADA, armadillo repeat containing |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18372903 |
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NCBI chr 6:10,183,942...10,488,007
Ensembl chr 6:10,183,982...10,487,159
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G |
Thbd |
thrombomodulin |
disease_progression |
ISO IEP |
protein:increased expression:plasma mRNA:decreased expression:blood vessel endothelial cell |
RGD |
PMID:11738074 PMID:17090405 PMID:17195062 |
RGD:2312458, RGD:1601648, RGD:2312457 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Timm50 |
translocase of inner mitochondrial membrane 50 |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16023759 PMID:16005367 |
RGD:1580148 |
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
disease_progression |
ISO IEP |
mRNA:decreased expression:skeletal muscle associated with Femoral Fractures; |
RGD |
PMID:19633828 PMID:31691506 |
RGD:2312470, RGD:151893486 |
NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
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G |
Tjp1 |
tight junction protein 1 |
|
ISO |
protein:decreased expression:glomerulus |
RGD |
PMID:16567508 |
RGD:2325150 |
NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
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G |
Tlr4 |
toll-like receptor 4 |
no_association |
ISO |
DNA:polymorphisms: :p.N299G, p.T399I (human) protein:increased expression:monocyte |
RGD |
PMID:14578307 PMID:16728431 PMID:19395279 PMID:19010563 |
RGD:2312494, RGD:2312492, RGD:2312484, RGD:2312680 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tmem18 |
transmembrane protein 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr 6:47,206,845...47,214,294
Ensembl chr 6:47,206,845...47,214,294
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G |
Tnf |
tumor necrosis factor |
|
IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24513509 PMID:20559450 PMID:28843383 |
RGD:5130987, RGD:14975146 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
severity |
ISO |
protein:increased expression:serum |
RGD |
PMID:22050177 |
RGD:7205512 |
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
IEP ISO |
mRNA:increased expression:coronary artery (rat) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11882518 PMID:20559450 |
RGD:5130987 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11882518 |
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NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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G |
Trpc1 |
transient receptor potential cation channel, subfamily C, member 1 |
|
IEP |
protein:increased expression:artery smooth muscle |
RGD |
PMID:20337661 |
RGD:7247596 |
NCBI chr 8:96,263,322...96,314,220
Ensembl chr 8:96,263,329...96,314,276
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
|
IEP |
protein:increased expression:artery smooth muscle |
RGD |
PMID:20337661 |
RGD:7247596 |
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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G |
Ttc9b |
tetratricopeptide repeat domain 9B |
|
ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616
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G |
Ube2e2 |
ubiquitin-conjugating enzyme E2E 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism associated with Environmental Illness; DNA:SNP:: (rs1496653) (human) |
CTD RGD |
PMID:20818381 PMID:27281273 |
RGD:401850598 |
NCBI chr15:6,980,241...7,257,912
Ensembl chr15:6,980,474...7,257,532
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G |
Ucp1 |
uncoupling protein 1 |
|
ISO |
DNA:polymorphisms:5' utr, exon:-112A>C (rs10011540), p.M229L (human) |
RGD |
PMID:11317671 |
RGD:2313631 |
NCBI chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852
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G |
Ucp2 |
uncoupling protein 2 |
no_association |
IDA ISO IEP |
associated with Obesity mRNA:increased expression:brown fat, white fat, skeletal muscle DNA:polymorphism:exon (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15562023 PMID:16123366 PMID:15356383 PMID:11587528 PMID:10382588 PMID:18344121 PMID:11440717 More...
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RGD:2313517, RGD:2313630, RGD:2313525, RGD:7175300, RGD:737760 |
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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G |
Ucp3 |
uncoupling protein 3 |
no_association susceptibility |
ISO IDA |
mRNA:altered expression:white fat, skeletal muscle DNA:SNP:exon:p.V102I (human) associated with Obesity DNA:polymorphism:promoter:-55C>T (human) protein:decreased expression:skeletal muscle associated with Obesity;DNA:SNPs:exon, 3' utr:rs1800006, rs647126 (human) ClinVar Annotator: match by term: UCP3 POLYMORPHISM G/A |
ClinVar RGD |
PMID:9769326 PMID:28492532 PMID:11587528 PMID:9769326 PMID:15356383 PMID:11484089 PMID:11723073 PMID:11126413 PMID:18223008 More...
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RGD:2313630, RGD:1625189, RGD:2313517, RGD:2313522, RGD:2313521, RGD:2313523, RGD:2313511 |
NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
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Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
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IEP |
mRNA,protein:increased expression,increased activity:intestine, colon: |
RGD |
PMID:23545594 |
RGD:10769362 |
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Ugt1a6 |
UDP glucuronosyltransferase family 1 member A6 |
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IEP |
mRNA,protein:increased expression,increased activity:intestine, colon: |
RGD |
PMID:23545594 |
RGD:10769362 |
NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Ugt1a7c |
UDP glucuronosyltransferase 1 family, polypeptide A7C |
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IEP |
mRNA,protein:increased expression,increased activity:intestine, colon: |
RGD |
PMID:23545594 |
RGD:10769362 |
NCBI chr 9:88,739,577...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Usf1 |
upstream transcription factor 1 |
no_association susceptibility |
ISO |
DNA:SNPs:intron, 3' utr:multiple (human) DNA:SNP: :rs3737787 (human) DNA:SNP: :rs2073658 (human) |
RGD |
PMID:16186412 PMID:18593823 PMID:18445538 |
RGD:2313794, RGD:2313792, RGD:2313793 |
NCBI chr13:83,845,230...83,854,875
Ensembl chr13:83,822,035...83,854,885
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Usp48 |
ubiquitin specific peptidase 48 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
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NCBI chr 5:149,800,189...149,867,838
Ensembl chr 5:149,800,179...149,867,719
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Uts2 |
urotensin 2 |
susceptibility |
ISO |
DNA:polymorphism protein:increased expression:skeletal muscle protein:increased expression:plasma DNA:polymorphism: :p.S89N |
RGD |
PMID:18067077 PMID:19323985 PMID:15476950 PMID:15476949 |
RGD:2306799, RGD:2306785, RGD:2306806, RGD:2306807 |
NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
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Uts2r |
urotensin 2 receptor |
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ISO |
mRNA:increased expression:skeletal muscle |
RGD |
PMID:19323985 |
RGD:2306785 |
NCBI chr10:106,438,092...106,439,252
Ensembl chr10:106,438,092...106,439,252
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Vcam1 |
vascular cell adhesion molecule 1 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:18619052 |
RGD:2312765 |
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Vdr |
vitamin D receptor |
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ISO |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vegfa |
vascular endothelial growth factor A |
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ISO |
mRNA, protein:increased expression:ventricle myocardium |
RGD |
PMID:16139132 |
RGD:2313728 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vps26a |
VPS26 retromer complex component A |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism associated with Environmental Illness;DNA:SNP:: (rs12242953) (human) |
CTD RGD |
PMID:21874001 PMID:27281273 |
RGD:401850598 |
NCBI chr20:30,404,320...30,434,266
Ensembl chr20:30,404,325...30,434,131
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Wfs1 |
wolframin ER transmembrane glycoprotein |
no_association susceptibility |
ISO |
DNA:SNP: :rs752854 (human) DNA:SNPs: :rs734312, rs752854, rs10010131 (human) DNA:SNPs, haplotype: :rs734312, rs752854, rs10010131 (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus |
OMIM CTD ClinVar RGD |
PMID:1161832 PMID:9536098 PMID:9771706 PMID:9856492 PMID:10521293 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11709537 PMID:11709538 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12754709 PMID:12955714 PMID:15151504 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15912360 PMID:16151413 PMID:16353398 PMID:16806192 PMID:17492394 PMID:17568405 PMID:17576681 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:19042979 PMID:19292454 PMID:19344068 PMID:20028947 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:22226368 PMID:22238590 PMID:23257691 PMID:23373429 PMID:23429432 PMID:23595122 PMID:23596069 PMID:23967202 PMID:23981289 PMID:24033266 PMID:24890733 PMID:24909696 PMID:25133958 PMID:25262649 PMID:25289672 PMID:25326637 PMID:25388789 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25895475 PMID:26025012 PMID:26064370 PMID:26284228 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27068579 PMID:27167055 PMID:27185633 PMID:27395765 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28492532 PMID:28559085 PMID:28802351 PMID:29207974 PMID:29529044 PMID:29563951 PMID:29632382 PMID:29988211 PMID:30014265 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30773290 PMID:30957632 PMID:31264968 PMID:31313226 PMID:31521625 PMID:31567480 PMID:31600780 PMID:31604968 PMID:31759989 PMID:31980526 PMID:32141364 PMID:32179840 PMID:32350710 PMID:32883240 PMID:33046911 PMID:33116287 PMID:33763535 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34356170 PMID:34404380 PMID:34445196 PMID:34556497 PMID:34573359 PMID:34746052 PMID:34837038 PMID:35206658 PMID:35469785 PMID:35602877 PMID:36208030 PMID:36597107 PMID:36729443 PMID:37508961 PMID:37510321 PMID:18040659 PMID:18060660 PMID:21713316 PMID:12107816 PMID:11916957 More...
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RGD:8694394, RGD:8694399, RGD:8694400, RGD:8694401, RGD:8694405 |
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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Wrn |
WRN RecQ like helicase |
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ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar RGD |
PMID:20443122 PMID:25741868 PMID:28492532 PMID:18295300 |
RGD:10042987 |
NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
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Xrcc1 |
X-ray repair cross complementing 1 |
susceptibility |
ISO |
DNA:SNP:cd: p.R399Q G>A (rs25487) (human) |
RGD |
PMID:30472145 |
RGD:401827275 |
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Zc3hc1 |
zinc finger, C3HC-type containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr 4:58,989,989...59,011,925
Ensembl chr 4:58,989,987...59,011,933
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Zfand3 |
zinc finger AN1-type containing 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22158537 |
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NCBI chr20:8,083,407...8,279,617
Ensembl chr20:8,082,200...8,279,616
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Zfp11 |
zinc finger protein 11 |
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ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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