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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ISO |
mRNA, protein:increased expression, decreased activity:pineal gland |
RGD |
PMID:16441550 |
RGD:2301037 |
NCBI chr17:76,453,351...76,470,117
Ensembl chr17:76,453,351...76,470,117
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ABCA1 |
ATP binding cassette subfamily A member 1 |
onset |
IAGP |
DNA:SNP:exon:p.R230C (rs9282541) (human) |
RGD |
PMID:18003760 |
RGD:2312576 |
NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
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ABCB1 |
ATP binding cassette subfamily B member 1 |
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IAGP |
DNA:polymorphism:exon (human) |
RGD |
PMID:19470683 |
RGD:2312331 |
NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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ABCC2 |
ATP binding cassette subfamily C member 2 |
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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 chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594
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ABCC8 |
ATP binding cassette subfamily C member 8 |
susceptibility |
IAGP EXP |
DNA:missense mutation::A1369S DNA:polymorphism: :p.S1369A (human) DNA:polymorphism:exon: DNA:missense mutations: :p.R248Q, p.K1521N, p.Y356C (human) DNA:polymorphism:intron:IVS16-3T>C (human) ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset 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 OMIM CTD 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: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:17259403 PMID:15579791 PMID:18599530 PMID:11030411 PMID:18346985 PMID:18664331 More...
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RGD:2313628, RGD:1598640, RGD:2301898, RGD:737749, RGD:2301901, RGD:2301897 |
NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
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ABCG2 |
ATP binding cassette subfamily G member 2 (JR blood group) |
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ISO |
mRNA:decreased expression:liver |
RGD |
PMID:25152023 |
RGD:14700811 |
NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628
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ACADS |
acyl-CoA dehydrogenase short chain |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:18523805 PMID:25741868 PMID:28492532 |
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NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
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ACE |
angiotensin I converting enzyme |
susceptibility |
IEA IAGP |
DNA:deletion:intron:IVS16+1464-1751del (human) |
GAD RGD |
PMID:15118671 PMID:24452036 |
RGD:1331525, RGD:8142353 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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G |
ACOT2 |
acyl-CoA thioesterase 2 |
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ISO |
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RGD |
PMID:16979414 |
RGD:1625728 |
NCBI chr14:73,567,620...73,575,658
Ensembl chr14:73,567,620...73,575,658
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ACP1 |
acid phosphatase 1 |
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IAGP |
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RGD |
PMID:15281007 |
RGD:2313183 |
NCBI chr 2:264,947...278,283
Ensembl chr 2:264,140...278,283
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ACP7 |
acid phosphatase 7, tartrate resistant (putative) |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,083,788...39,111,493
Ensembl chr19:39,083,913...39,111,493
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G |
ACTN4 |
actinin alpha 4 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589
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ADA |
adenosine deaminase |
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IEP |
protein:increased expression:serum |
RGD |
PMID:15168879 |
RGD:2313539 |
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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G |
ADAM17 |
ADAM metallopeptidase domain 17 |
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IDA |
protein:increased activity:skeletal muscle tissue protein:increased activity:artery smooth muscle |
RGD |
PMID:19633828 PMID:19581416 |
RGD:2312470, RGD:2313250 |
NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
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G |
ADAMTS9 |
ADAM metallopeptidase with thrombospondin type 1 motif 9 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18372903 PMID:23967108 |
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NCBI chr 3:64,515,654...64,688,000
Ensembl chr 3:64,515,654...64,688,000
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ADCY5 |
adenylate cyclase 5 |
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ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20081858 PMID:23202124 PMID:12607610 |
RGD:13464136 |
NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090
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ADIPOQ |
adiponectin, C1Q and collagen domain containing |
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IDA ISO IEP IAGP EXP |
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 chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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ADIPOR2 |
adiponectin receptor 2 |
no_association |
IAGP IDA |
Allele A of +33371 A/G polymorphism for ADIPOR2 confers increased risk of T2DM in a Chinese population Reduced expression of ADIPOR2 mRNA in muscle, which may contribute to insulin resistance Russian population, 129 cases, 117 controls 985 T2DM cases and 1050 controls, Chinese population, SNP association study |
RGD |
PMID:18075289 PMID:18363889 PMID:18548168 PMID:19631916 |
RGD:2312490, RGD:2312486, RGD:2312480, RGD:2312476 |
NCBI chr12:1,691,070...1,788,674
Ensembl chr12:1,688,574...1,788,674
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ADM |
adrenomedullin |
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IEP |
protein:increased expression:plasma |
RGD |
PMID:17557032 |
RGD:2313313 |
NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
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ADRA2A |
adrenoceptor alpha 2A |
susceptibility |
IAGP ISO |
DNA:SNP:3' utr:rs553668 (human) mRNA, protein:increased expression:pancreatic islet |
RGD |
PMID:19965390 PMID:19965390 |
RGD:2316628, RGD:2316628 |
NCBI chr10:111,077,029...111,080,907
Ensembl chr10:111,077,029...111,080,907
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ADRA2B |
adrenoceptor alpha 2B |
onset |
IAGP |
DNA:polymorphism (human) |
RGD |
PMID:17039423 PMID:17277585 |
RGD:2313544, RGD:2313543 |
NCBI chr 2:96,112,876...96,116,571
Ensembl chr 2:96,112,876...96,116,571
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ADRB2 |
adrenoceptor beta 2 |
no_association |
IAGP IEA |
DNA:polymorphisms: :p.R16G, p.Q27E |
RGD GAD |
PMID:17221209 PMID:15118671 |
RGD:1601119, RGD:1331525 |
NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
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ADRB3 |
adrenoceptor beta 3 |
onset susceptibility no_association |
IAGP |
DNA:missense mutation: :p.I62M (human) DNA:polymorphism: :p.W64R (human) DNA:missense mutation:cds:p.W64R rs4994 (human) |
RGD |
PMID:16444766 PMID:17727676 PMID:19659999 |
RGD:2313163, RGD:2313149, RGD:2313148 |
NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
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G |
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 chr12:57,723,761...57,742,161
Ensembl chr12:57,723,761...57,742,157
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AGER |
advanced glycosylation end-product specific receptor |
treatment no_association |
ISO IAGP |
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 chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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G |
AGRP |
agouti related neuropeptide |
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IAGP ISO |
DNA:polymorphism:promoter:-38C>T (human) mRNA:decreased expression:hypothalamus |
RGD |
PMID:11554767 PMID:18001323 |
RGD:2314000, RGD:2311538 |
NCBI chr16:67,482,571...67,483,547
Ensembl chr16:67,482,571...67,483,547
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AGT |
angiotensinogen |
no_association |
IEP IAGP |
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 chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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G |
AGTR2 |
angiotensin II receptor type 2 |
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ISO |
mRNA, protein:increased expression:aorta |
RGD |
PMID:18463192 |
RGD:2313550 |
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
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G |
AHI1 |
Abelson helper integration site 1 |
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IEP |
mRNA:increased expression:vastus lateralis |
RGD |
PMID:20045148 |
RGD:11537398 |
NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
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G |
AHSG |
alpha 2-HS glycoprotein |
susceptibility |
IAGP IEP |
DNA:polymorphism: :-469T>G (rs2077119) (human) |
RGD |
PMID:18316360 PMID:18633113 |
RGD:2313812, RGD:2313811 |
NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318
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G |
AK1 |
adenylate kinase 1 |
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ISO |
protein:increased expression:gastrocnemius muscle (rat) |
RGD |
PMID:20127051 |
RGD:5134362 |
NCBI chr 9:127,866,480...127,879,621
Ensembl chr 9:127,866,486...127,877,675
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G |
AKR1B1 |
aldo-keto reductase family 1 member B |
susceptibility |
IAGP |
DNA:repeat, snp:promoter:g.(AC)n, g.-106C>T (human) |
RGD |
PMID:15569136 |
RGD:8548678 |
NCBI chr 7:134,442,350...134,459,239
Ensembl chr 7:134,442,356...134,459,284
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G |
AKT1 |
AKT serine/threonine kinase 1 |
treatment |
ISO EXP |
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 chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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G |
AKT2 |
AKT serine/threonine kinase 2 |
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IDA IEP ISO IAGP EXP ISS |
protein:decreased activity, phosphorylation:vastus lateralis (human) DNA:missense mutation:cds:p.R274H (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 OMIM CTD MouseDO RGD |
PMID:9536098 PMID:15166380 PMID:16722806 PMID:17327441 PMID:17576681 PMID:19164855 PMID:21479466 PMID:21518566 PMID:25157968 PMID:25741868 PMID:28341696 PMID:28492532 PMID:32041611 PMID:33848288 PMID:18972094 PMID:18204829 PMID:19289493 PMID:15166380 PMID:11387480 More...
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RGD:2307342, RGD:2313405, RGD:2311130, RGD:2313408, RGD:734545 |
NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536
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G |
ALDH2 |
aldehyde dehydrogenase 2 family member |
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IAGP |
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RGD |
PMID:15563966 |
RGD:2311149 |
NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
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G |
ALDOB |
aldolase, fructose-bisphosphate B |
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ISO IAGP |
mRNA:decreased expression:soleus (rat) DNA:SNP:intron: (human) |
RGD |
PMID:19106228 PMID:12646233 |
RGD:2313414, RGD:2313434 |
NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664
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G |
ALMS1 |
ALMS1 centrosome and basal body associated protein |
no_association |
IAGP |
DNA:SNPs: :rs1320374, rs1881245, rs3820700 (human) |
RGD |
PMID:16601972 |
RGD:8696017 |
NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
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G |
ALOX12 |
arachidonate 12-lipoxygenase, 12S type |
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IEP |
protein:decreased activity:platelet (human) |
RGD |
PMID:9500559 |
RGD:2313877 |
NCBI chr17:6,996,049...7,010,754
Ensembl chr17:6,996,049...7,010,754
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G |
ANGPT2 |
angiopoietin 2 |
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IEP |
protein:increased expression:plasma |
RGD |
PMID:15823283 |
RGD:2313815 |
NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409
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G |
ANGPTL3 |
angiopoietin like 3 |
|
ISO |
protein:increased expression:liver |
RGD |
PMID:15094378 |
RGD:2314234 |
NCBI chr 1:62,597,520...62,606,313
Ensembl chr 1:62,597,520...62,606,313
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|
G |
ANKRD23 |
ankyrin repeat domain 23 |
|
ISO |
RNA:altered expression:heart, brown adipose tissue, skeletal muscle tissue |
RGD |
PMID:12456686 |
RGD:2314859 |
NCBI chr 2:96,837,912...96,844,021
Ensembl chr 2:96,824,526...96,857,934
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|
G |
AOC3 |
amine oxidase copper containing 3 |
|
ISO IEP |
protein:increased expression:serum |
RGD |
PMID:12663473 PMID:14656718 PMID:19336232 |
RGD:2313823, RGD:2313822, RGD:2313820 |
NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130
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|
G |
AP3S2 |
adaptor related protein complex 3 subunit sigma 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21874001 |
|
NCBI chr15:89,830,599...89,893,994
Ensembl chr15:89,830,599...89,894,638
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|
G |
APLN |
apelin |
|
IEP |
protein:decreased expression:plasma |
RGD |
PMID:18484561 |
RGD:2313944 |
NCBI chr X:129,645,259...129,654,956
Ensembl chr X:129,645,259...129,654,956
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|
G |
APLNR |
apelin receptor |
|
ISO |
protein:decreased expression:renal artery |
RGD |
PMID:17692936 |
RGD:2313945 |
NCBI chr11:57,233,591...57,237,250
Ensembl chr11:57,233,577...57,237,250
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|
G |
APOA1 |
apolipoprotein A1 |
|
IEP |
protein:altered localization:plasma lipoprotein particle protein:increased expression, increased glycation:plasma |
RGD |
PMID:9649952 PMID:18079481 |
RGD:2313961, RGD:7241576 |
NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
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G |
APOA2 |
apolipoprotein A2 |
|
IEP |
protein:altered localization:plasma lipoprotein particle protein:decreased expression:serum |
RGD |
PMID:9649952 PMID:19817643 |
RGD:2313961, RGD:2313955 |
NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631
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|
G |
APOA5 |
apolipoprotein A5 |
no_association |
IAGP IEP |
DNA:polymorphism: :-1131T>C (human) DNA:polymorphism: :c.553G>T (human) |
RGD |
PMID:17548321 PMID:16039297 PMID:17087641 |
RGD:2313318, RGD:2313321, RGD:2313319 |
NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
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|
G |
APOB |
apolipoprotein B |
treatment |
IEP IDA |
|
RGD |
PMID:18945923 PMID:15161783 |
RGD:2313981, RGD:11354945 |
NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
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|
G |
APOC1 |
apolipoprotein C1 |
|
IEP |
protein:decreased expression:plasma |
RGD |
PMID:3757210 |
RGD:2313953 |
NCBI chr19:44,914,325...44,919,346
Ensembl chr19:44,914,247...44,919,349
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|
G |
APOC2 |
apolipoprotein C2 |
|
IEP |
protein:increased expression:plasma |
RGD |
PMID:12733353 PMID:3757210 |
RGD:2313966, RGD:2313953 |
NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,946,035...44,949,565
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|
G |
APOD |
apolipoprotein D |
|
IEP IAGP |
DNA:polymorphism |
RGD |
PMID:15369805 PMID:7895459 |
RGD:2311177, RGD:2311178 |
NCBI chr 3:195,568,705...195,583,940
Ensembl chr 3:195,568,705...195,584,033
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|
G |
APOE |
apolipoprotein E |
|
IEP IEA |
protein:increased expression:pancreatic islet |
RGD GAD |
PMID:18950899 PMID:15118671 |
RGD:2317556, RGD:1331525 |
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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G |
APOH |
apolipoprotein H |
|
IEP |
|
RGD |
PMID:16126948 |
RGD:2313984 |
NCBI chr17:66,212,033...66,229,415
Ensembl chr17:66,212,033...66,256,525
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|
G |
APOM |
apolipoprotein M |
susceptibility |
IAGP |
DNA:SNP:promoter:g.-778T>C(rs805296)(human) |
RGD |
PMID:16572495 |
RGD:2314248 |
NCBI chr 6:31,652,404...31,658,210
Ensembl chr 6:31,652,416...31,658,210
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|
G |
AQP7 |
aquaporin 7 |
|
IEP |
protein:increased expression:skeletal muscle: |
RGD |
PMID:29783856 |
RGD:13782361 |
NCBI chr 9:33,383,191...33,402,568
Ensembl chr 9:33,383,179...33,402,682
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|
G |
AR |
androgen receptor |
|
ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
|
|
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
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|
G |
ARNT |
aryl hydrocarbon receptor nuclear translocator |
|
IEP |
mRNA:decreased expression:pancreatic islet |
RGD |
PMID:16096055 |
RGD:2313995 |
NCBI chr 1:150,809,713...150,876,599
Ensembl chr 1:150,809,713...150,876,708
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|
G |
ARRB2 |
arrestin beta 2 |
treatment |
ISO |
|
RGD |
PMID:24337852 |
RGD:13506901 |
NCBI chr17:4,710,632...4,721,497
Ensembl chr17:4,710,596...4,721,499
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G |
ARX |
aristaless related homeobox |
|
ISO |
|
RGD |
PMID:16772326 |
RGD:1599258 |
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
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|
G |
ASIP |
agouti signaling protein |
|
IEP ISO ISS |
mRNA:increased expression:adipose tissue CTD Direct Evidence: marker/mechanism OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
CTD MouseDO RGD |
PMID:8146154 PMID:14633851 |
RGD:2313999 |
NCBI chr20:34,186,493...34,269,344
Ensembl chr20:34,194,569...34,269,344
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|
G |
ASL |
argininosuccinate lyase |
|
IEP |
mRNA:increased expression:leukocyte |
RGD |
PMID:16121806 |
RGD:2314010 |
NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697
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|
G |
ATF3 |
activating transcription factor 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
|
NCBI chr 1:212,565,407...212,620,777
Ensembl chr 1:212,565,334...212,620,777
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|
G |
ATP2A1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
|
ISO |
|
RGD |
PMID:22009485 |
RGD:6771327 |
NCBI chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,466
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|
G |
ATP2A2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
|
ISO EXP |
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 chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
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|
G |
ATP2A3 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
|
NCBI chr17:3,923,873...3,964,437
Ensembl chr17:3,923,870...3,964,464
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|
G |
ATP5F1B |
ATP synthase F1 subunit beta |
|
ISO |
protein:decreased expression:islet of Langerhans (rat) |
RGD |
PMID:21117707 |
RGD:13792619 |
NCBI chr12:56,638,175...56,645,984
Ensembl chr12:56,638,175...56,645,984
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|
G |
AUTS2 |
activator of transcription and developmental regulator AUTS2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
|
NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
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|
G |
AVP |
arginine vasopressin |
|
ISO |
protein:increased expression:hypothalamus |
RGD |
PMID:17940875 |
RGD:2301922 |
NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724
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G |
AXL |
AXL receptor tyrosine kinase |
|
IMP |
|
RGD |
PMID:10528229 |
RGD:2325834 |
NCBI chr19:41,219,223...41,261,766
Ensembl chr19:41,219,223...41,261,766
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|
G |
B2M |
beta-2-microglobulin |
|
IEP |
protein:increased expression:serum |
RGD |
PMID:15127324 |
RGD:2311236 |
NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
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|
G |
BACE2 |
beta-secretase 2 |
treatment |
ISO |
|
RGD |
PMID:28337562 |
RGD:13782177 |
NCBI chr21:41,168,160...41,282,530
Ensembl chr21:41,167,801...41,282,530
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|
G |
BAD |
BCL2 associated agonist of cell death |
|
ISO |
|
RGD |
PMID:23032698 |
RGD:10053698 |
NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
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|
G |
BAX |
BCL2 associated X, apoptosis regulator |
treatment |
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:31626838 PMID:22543177 |
RGD:10054139 |
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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|
G |
BCHE |
butyrylcholinesterase |
susceptibility |
IAGP IEA IDA |
DNA:polymorphism: :p.A539T (human) |
RGD GAD |
PMID:11793025 PMID:15118671 PMID:16442234 |
RGD:2306782, RGD:1331525, RGD:2306780 |
NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
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G |
BCL2 |
BCL2 apoptosis regulator |
|
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16959961 PMID:31626838 PMID:23032698 |
RGD:10053698 |
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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|
G |
BCL2L1 |
BCL2 like 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16959961 |
|
NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
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G |
BCL2L11 |
BCL2 like 11 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr 2:111,120,914...111,168,445
Ensembl chr 2:111,119,378...111,168,444
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|
G |
BDNF |
brain derived neurotrophic factor |
|
IEP |
protein:decreased expression:plasma |
RGD |
PMID:17151862 |
RGD:10059350 |
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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|
G |
BECN1 |
beclin 1 |
treatment |
ISO |
|
RGD |
PMID:21820301 |
RGD:11561956 |
NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
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|
G |
BGLAP |
bone gamma-carboxyglutamate protein |
|
IEP |
protein:decreased expression:serum: |
RGD |
PMID:15747054 |
RGD:7207410 |
NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317
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|
G |
BHMT |
betaine--homocysteine S-methyltransferase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23665415 |
|
NCBI chr 5:79,111,809...79,132,288
Ensembl chr 5:79,111,809...79,132,288
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|
G |
BMAL2 |
basic helix-loop-helix ARNT like 2 |
|
IAGP |
DNA:SNPs: :rs7950226, rs11022775(human) |
RGD |
PMID:17728404 |
RGD:2314371 |
NCBI chr12:27,332,836...27,425,286
Ensembl chr12:27,332,836...27,425,289
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|
G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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|
G |
BSCL2 |
BSCL2 lipid droplet biogenesis associated, seipin |
no_association |
ISO |
|
RGD |
PMID:12584444 |
RGD:1600600 |
NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
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|
G |
BTC |
betacellulin |
susceptibility |
IAGP |
DNA:polymorphism:exon:p.C7G (human) DNA:polymorphism:promoter:-226A/G (human) |
RGD |
PMID:15793259 PMID:16306376 |
RGD:2306973, RGD:2306967 |
NCBI chr 4:74,744,759...74,794,523
Ensembl chr 4:74,744,759...74,794,523
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G |
C10orf67 |
chromosome 10 open reading frame 67 |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
|
|
NCBI chr10:23,201,916...23,344,797
Ensembl chr10:23,202,696...23,344,845
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|
G |
C12orf43 |
chromosome 12 open reading frame 43 |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:25057215 |
|
NCBI chr12:121,000,486...121,016,487
Ensembl chr12:121,000,486...121,016,502
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|
G |
C19orf47 |
chromosome 19 open reading frame 47 |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:40,292,954...40,348,527
Ensembl chr19:40,319,536...40,348,527
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|
G |
C2CD4A |
C2 calcium dependent domain containing 4A |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20818381 |
|
NCBI chr15:62,066,977...62,070,917
Ensembl chr15:62,066,977...62,070,917
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|
G |
C2CD4B |
C2 calcium dependent domain containing 4B |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20818381 |
|
NCBI chr15:62,163,535...62,165,285
Ensembl chr15:62,163,535...62,165,285
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G |
C3 |
complement C3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20504758 |
|
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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|
G |
CACNA1D |
calcium voltage-gated channel subunit alpha1 D |
susceptibility |
IAGP IEP |
DNA:SNPs: :rs9841978,rs312486(human) mRNA:decreased expression:pancreatic islet: |
RGD |
PMID:23229155 PMID:23229155 |
RGD:13506727, RGD:13506727 |
NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733
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G |
CADM2 |
cell adhesion molecule 2 |
|
IAGP |
DNA:SNP: :rs13078807 (human) |
RGD |
PMID:28401323 |
RGD:15092076 |
NCBI chr 3:84,958,989...86,074,429
Ensembl chr 3:84,958,989...86,074,429
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G |
CALCA |
calcitonin related polypeptide alpha |
|
ISO |
protein:decreased expression:dorsal root ganglion, neuron |
RGD |
PMID:17151309 PMID:19816194 |
RGD:2314035, RGD:2314032 |
NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
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G |
CALM1 |
calmodulin 1 |
|
ISO |
mRNA:decreased expression:heart |
RGD |
PMID:21216827 |
RGD:6892953 |
NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
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|
G |
CAPN10 |
calpain 10 |
|
IEP ISO IAGP EXP |
mRNA:increased expression:pancreas DNA:SNP mRNA:decreased expression 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:14658759 PMID:14646187 PMID:16721485 PMID:22012129 PMID:20406624 PMID:18554168 More...
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RGD:4107074, RGD:737693, RGD:1625063, RGD:1625049, RGD:7247733, RGD:7247734, RGD:7247735 |
NCBI chr 2:240,586,734...240,599,104
Ensembl chr 2:240,586,734...240,617,705
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G |
CAPN12 |
calpain 12 |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:38,730,192...38,744,693
Ensembl chr19:38,730,187...38,769,904
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G |
CARTPT |
CART prepropeptide |
|
ISO |
protein:increased expression:pancreatic B cell |
RGD |
PMID:16443761 |
RGD:2313632 |
NCBI chr 5:71,719,275...71,721,045
Ensembl chr 5:71,719,275...71,721,048
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G |
CASP12 |
caspase 12 (gene/pseudogene) |
|
ISO |
|
RGD |
PMID:23032698 |
RGD:10053698 |
NCBI chr11:104,883,286...104,898,460
Ensembl chr11:104,885,718...104,898,670
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|
G |
CASP3 |
caspase 3 |
|
IEP EXP |
protein:increased activity:pancreatic B cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15531508 PMID:19100955 |
RGD:2311446 |
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
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|
G |
CASP7 |
caspase 7 |
|
ISO |
|
RGD |
PMID:23032698 |
RGD:10053698 |
NCBI chr10:113,679,194...113,730,909
Ensembl chr10:113,679,162...113,730,907
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|
G |
CASP8 |
caspase 8 |
|
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15531508 PMID:17563067 |
RGD:2311429 |
NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
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|
G |
CASP9 |
caspase 9 |
|
IAGP |
DNA:SNP (human) |
RGD |
PMID:16038259 |
RGD:2311246 |
NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
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|
G |
CASQ1 |
calsequestrin 1 |
no_association |
IAGP |
DNA:SNPs: :multiple DNA:SNP: :rs2275703(human) DNA:SNP: :rs617698(human) |
RGD |
PMID:15561963 PMID:17681849 PMID:15561962 PMID:18269685 |
RGD:2314135, RGD:2314134, RGD:2314136, RGD:2314133 |
NCBI chr 1:160,190,575...160,201,886
Ensembl chr 1:160,190,575...160,201,886
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G |
CAT |
catalase |
|
IEP EXP |
protein:decreased activity:plasma: CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:15111504 PMID:15531508 PMID:12357295 |
RGD:9068922 |
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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|
G |
CBS |
cystathionine beta-synthase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23665415 |
|
NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
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|
G |
CCDC92 |
coiled-coil domain containing 92 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr12:123,935,626...123,972,831
Ensembl chr12:123,918,660...123,972,831
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|
G |
CCKAR |
cholecystokinin A receptor |
|
ISO |
DNA:deletion |
RGD |
PMID:16815799 |
RGD:1625200 |
NCBI chr 4:26,481,396...26,490,484
Ensembl chr 4:26,481,396...26,490,484
|
|
G |
CCL2 |
C-C motif chemokine ligand 2 |
treatment |
ISO |
protein:increased expression:urine |
RGD |
PMID:18388116 PMID:25899686 |
RGD:2301862, RGD:14995493 |
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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|
G |
CCL5 |
C-C motif chemokine ligand 5 |
|
IEP |
protein:increased expression:serum |
RGD |
PMID:17966842 |
RGD:2307064 |
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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G |
CCN2 |
cellular communication network factor 2 |
|
ISO |
mRNA, protein:increased expression:left ventricle (rat) |
RGD |
PMID:19902320 |
RGD:2314357 |
NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
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G |
CCND2 |
cyclin D2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24464100 |
|
NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
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G |
CCNP |
cyclin P |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:40,222,208...40,226,689
Ensembl chr19:40,222,208...40,226,697
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G |
CCR2 |
C-C motif chemokine receptor 2 |
|
IEP |
protein:increased expression:monocyte |
RGD |
PMID:16631114 |
RGD:2313561 |
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
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G |
CCR5 |
C-C motif chemokine receptor 5 |
treatment |
IEP ISO |
protein:increased expression:monocyte |
RGD |
PMID:17966842 PMID:23063706 |
RGD:2307064, RGD:8552229 |
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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G |
CD36 |
CD36 molecule (CD36 blood group) |
severity |
ISO IAGP IEP IDA EXP |
protein:increased expression:aorta DNA:nonsense mutation: :p.L360X DNA:SNP:promoter, rs1527479 (human) protein:increased expression:plasma 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:17127041 PMID:15221799 PMID:16911630 PMID:16952981 PMID:7544802 PMID:20134099 PMID:12479587 More...
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RGD:2307211, RGD:2307218, RGD:2307213, RGD:2307212, RGD:2307219, RGD:6893499, RGD:11040908 |
NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
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G |
CD38 |
CD38 molecule |
|
ISO IAGP IDA |
mRNA:decreased expression:pancreatic islet DNA:missense mutation: :p.R140W (human) |
RGD |
PMID:7669044 PMID:9754820 PMID:12242463 |
RGD:2307234, RGD:2307233, RGD:2307232 |
NCBI chr 4:15,778,328...15,853,232
Ensembl chr 4:15,778,275...15,853,232
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G |
CD40LG |
CD40 ligand |
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IEP |
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:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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G |
CDK4 |
cyclin dependent kinase 4 |
no_association |
IMP IAGP |
DNA:polymorphism:intron:IVS4-40G>A (human) |
RGD |
PMID:18678431 PMID:19695727 |
RGD:2314611, RGD:2314610 |
NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
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G |
CDKAL1 |
CDK5 regulatory subunit associated protein 1 like 1 |
|
IAGP EXP ISS |
DNA:snps: :multiple DNA:snp: :rs7754840(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 CTD MouseDO RGD |
PMID:17460697 PMID:17463246 PMID:17463248 PMID:17463249 PMID:23104008 PMID:23202124 PMID:24760768 PMID:18633108 PMID:19401414 PMID:18991055 More...
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RGD:2313949, RGD:2313941, RGD:2313947 |
NCBI chr 6:20,534,457...21,232,404
Ensembl chr 6:20,534,457...21,232,404
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G |
CDO1 |
cysteine dioxygenase type 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23665415 |
|
NCBI chr 5:115,804,733...115,816,659
Ensembl chr 5:115,804,733...115,816,659
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G |
CEL |
carboxyl ester lipase |
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IAGP |
DNA:deletion:exon ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar RGD |
PMID:25741868 PMID:16369531 |
RGD:2313964 |
NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861
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G |
CHI3L1 |
chitinase 3 like 1 |
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IEP |
protein:increased secretion:plasma (human) |
RGD |
PMID:21143859 |
RGD:4892628 |
NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
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G |
CISD2 |
CDGSH iron sulfur domain 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807
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G |
CLC |
Charcot-Leyden crystal galectin |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,731,255...39,738,029
Ensembl chr19:39,731,255...39,738,029
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G |
CLPS |
colipase |
susceptibility |
IAGP |
DNA:polymorphism:exon:p.R109C (human) |
RGD |
PMID:16189801 |
RGD:2314627 |
NCBI chr 6:35,794,982...35,797,323
Ensembl chr 6:35,794,982...35,797,344
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G |
CMIP |
c-Maf inducing protein |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr16:81,444,808...81,711,762
Ensembl chr16:81,444,808...81,711,762
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G |
CNKSR2 |
connector enhancer of kinase suppressor of Ras 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
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NCBI chr X:21,374,418...21,654,689
Ensembl chr X:21,372,801...21,654,695
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G |
CNR1 |
cannabinoid receptor 1 |
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IMP |
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RGD |
PMID:18678611 |
RGD:2314632 |
NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347
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G |
COL3A1 |
collagen type III alpha 1 chain |
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ISO |
|
RGD |
PMID:20836762 |
RGD:7257556 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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G |
CP |
ceruloplasmin |
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IEP |
protein:increased expression:serum |
RGD |
PMID:19834873 |
RGD:2314681 |
NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
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G |
CPB2 |
carboxypeptidase B2 |
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IEP |
protein:increased expression, increased activity:plasma |
RGD |
PMID:11836301 |
RGD:2313645 |
NCBI chr13:46,053,186...46,105,033
Ensembl chr13:46,053,186...46,105,033
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G |
CPE |
carboxypeptidase E |
no_association onset |
IAGP |
no association between obesity or diabetes and three SNPs (-53G>T, -144G>A, 219G>A) in Japanese patients DNA:SNP:CDS:847C>T, amino acid R283W; earlier age of onset in heterozygotes in an four Ashkenazi families DNA:SNP:cds (rs1583645) (human) |
RGD |
PMID:9662053 PMID:11462236 PMID:23776430 |
RGD:1626184, RGD:1626183, RGD:405650683 |
NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547
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G |
CPT1A |
carnitine palmitoyltransferase 1A |
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ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16123366 PMID:19553925 |
RGD:2311344 |
NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410
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G |
CRHR1 |
corticotropin releasing hormone receptor 1 |
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ISO |
mRNA:decreased expression:hypothalamus (rat) |
RGD |
PMID:20472052 |
RGD:5507823 |
NCBI chr17:45,784,320...45,835,828
Ensembl chr17:45,784,277...45,835,828
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G |
CRP |
C-reactive protein |
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IEP |
|
RGD |
PMID:16764962 |
RGD:9491772 |
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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G |
CRTC2 |
CREB regulated transcription coactivator 2 |
treatment |
ISO |
|
RGD |
PMID:23595987 PMID:19706791 |
RGD:9685169, RGD:9685172 |
NCBI chr 1:153,947,675...153,958,612
Ensembl chr 1:153,947,669...153,958,615
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G |
CST3 |
cystatin C |
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IEP |
protein:increased expression:serum (human) |
RGD |
PMID:19887833 |
RGD:2314295 |
NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
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G |
CTF1 |
cardiotrophin 1 |
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ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
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NCBI chr16:30,895,846...30,903,560
Ensembl chr16:30,896,614...30,903,547
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G |
CTSB |
cathepsin B |
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IEP |
mRNA:decreased expression:pancreatic islet (human) |
RGD |
PMID:19367387 |
RGD:2315527 |
NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533
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G |
CTSL |
cathepsin L |
susceptibility |
IEP ISO |
protein:increased expression:right auricular appendage (human) mRNA:increased expression:gastrocnemius muscle (mouse) |
RGD |
PMID:19074676 PMID:12941783 |
RGD:2315622, RGD:2315625 |
NCBI chr 9:87,726,119...87,731,469
Ensembl chr 9:87,724,051...87,731,469
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G |
CXCL10 |
C-X-C motif chemokine ligand 10 |
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IEP |
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RGD |
PMID:19187771 |
RGD:2311356 |
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
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G |
CXCL12 |
C-X-C motif chemokine ligand 12 |
|
IEP |
protein:increased expression:plasma |
RGD |
PMID:18451752 |
RGD:2306553 |
NCBI chr10:44,370,165...44,385,097
Ensembl chr10:44,370,165...44,386,493
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G |
CYB5R4 |
cytochrome b5 reductase 4 |
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IAGP 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 6:83,859,689...83,967,423
Ensembl chr 6:83,859,656...83,967,423
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G |
CYBA |
cytochrome b-245 alpha chain |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15531508 |
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NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
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G |
CYP11A1 |
cytochrome P450 family 11 subfamily A member 1 |
|
ISO |
mRNA:decreased expression:testis, Leydig cell (rat) |
RGD |
PMID:18481435 |
RGD:4889107 |
NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
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G |
CYP11B2 |
cytochrome P450 family 11 subfamily B member 2 |
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IAGP |
DNA:polymorphism:promoter:-344C>T (human) |
RGD |
PMID:18771471 |
RGD:2307288 |
NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
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G |
CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
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IAGP |
DNA:polymorphism:3' UTR:5639T>C (human) |
RGD |
PMID:11996959 |
RGD:2307073 |
NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
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G |
CYP1A2 |
cytochrome P450 family 1 subfamily A member 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22244987 |
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NCBI chr15:74,748,845...74,756,607
Ensembl chr15:74,748,845...74,756,607
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G |
CYP2C19 |
cytochrome P450 family 2 subfamily C member 19 |
treatment |
ISO |
|
RGD |
PMID:32742601 |
RGD:124713564 |
NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547
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G |
CYP2C9 |
cytochrome P450 family 2 subfamily C member 9 |
|
IAGP |
DNA:polymorphism:cds:I359L (human) |
RGD |
PMID:16325295 |
RGD:2307152 |
NCBI chr10:94,938,658...94,990,091
Ensembl chr10:94,938,658...94,990,091
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G |
CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
|
ISO IEP |
mRNA:decreased expression:liver mRNA, protein:decreased expression:liver mRNA:increased expression:leukocyte |
RGD |
PMID:10049703 PMID:10679205 PMID:12534643 |
RGD:2313688, RGD:2313687, RGD:2313686 |
NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
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G |
CYP3A4 |
cytochrome P450 family 3 subfamily A member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22244987 |
|
NCBI chr 7:99,756,967...99,784,184
Ensembl chr 7:99,756,960...99,784,248
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G |
DAG1 |
dystroglycan 1 |
|
ISO |
protein:decreased expression:skeletal muscle |
RGD |
PMID:16323284 |
RGD:1581689 |
NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
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G |
DCN |
decorin |
|
IEP |
protein:increased expression:plasma |
RGD |
PMID:18414424 |
RGD:2311410 |
NCBI chr12:91,140,484...91,182,817
Ensembl chr12:91,140,484...91,183,217
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G |
DCX |
doublecortin |
|
ISO |
protein:decreased expression:dentate gyrus |
RGD |
PMID:18982449 |
RGD:12904763 |
NCBI chr X:111,293,779...111,412,192
Ensembl chr X:111,293,779...111,412,429
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G |
DEFB1 |
defensin beta 1 |
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ISO |
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RGD |
PMID:14521940 |
RGD:4892271 |
NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936
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G |
DGKD |
diacylglycerol kinase delta |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
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NCBI chr 2:233,354,494...233,472,098
Ensembl chr 2:233,354,494...233,472,104
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G |
DIO2 |
iodothyronine deiodinase 2 |
no_association |
IAGP |
DNA:SNP: :rs225014, p.T92A (human) |
RGD |
PMID:17077128 |
RGD:1626439 |
NCBI chr14:80,197,526...80,231,057
Ensembl chr14:80,197,526...80,387,757
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G |
DLL3 |
delta like canonical Notch ligand 3 |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481
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G |
DNM1L |
dynamin 1 like |
treatment |
ISO |
|
RGD |
PMID:21820301 |
RGD:11561956 |
NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
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G |
DNMT1 |
DNA methyltransferase 1 |
|
ISO |
mRNA:increased expression:liver: |
RGD |
PMID:21818837 |
RGD:7207079 |
NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
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G |
DPP4 |
dipeptidyl peptidase 4 |
|
IMP |
|
RGD |
PMID:19705345 |
RGD:2313700 |
NCBI chr 2:161,992,245...162,074,215
Ensembl chr 2:161,992,245...162,074,394
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G |
DRD2 |
dopamine receptor D2 |
|
IAGP |
DNA:polymorphism:exon:32806C>T (human) |
RGD |
PMID:18834717 |
RGD:2311601 |
NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
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G |
DYRK1B |
dual specificity tyrosine phosphorylation regulated kinase 1B |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201
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G |
ECE1 |
endothelin converting enzyme 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16387788 |
|
NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
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|
G |
ECH1 |
enoyl-CoA hydratase 1 |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:38,815,422...38,831,794
Ensembl chr19:38,815,422...38,831,841
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G |
EDN1 |
endothelin 1 |
|
ISO IEP EXP |
protein:increased expression:mesenteric artery mRNA:increased expression:blood vessel endothelial cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16387788 PMID:19286964 PMID:19581418 |
RGD:2313280, RGD:2313278 |
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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G |
EDNRA |
endothelin receptor type A |
|
ISO EXP |
protein:increased expression:mesenteric artery CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16387788 PMID:19286964 |
RGD:2313280 |
NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
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G |
EDNRB |
endothelin receptor type B |
|
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16387788 PMID:19286964 |
RGD:2313280 |
NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529
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G |
EGFR |
epidermal growth factor receptor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22238402 |
|
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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G |
EID2 |
EP300 interacting inhibitor of differentiation 2 |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,538,707...39,540,161
Ensembl chr19:39,538,707...39,540,161
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G |
EID2B |
EP300 interacting inhibitor of differentiation 2B |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,530,987...39,532,852
Ensembl chr19:39,530,987...39,532,852
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|
G |
EIF3F |
eukaryotic translation initiation factor 3 subunit F |
|
ISO |
|
RGD |
PMID:12875716 |
RGD:10755506 |
NCBI chr11:7,987,337...8,001,852
Ensembl chr11:7,970,251...8,001,862
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
susceptibility |
IAGP EXP |
NIDDM,OMIM:125853;DNA:polymorphism 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 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 II diabetes mellitus |
ClinVar CTD 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 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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|
G |
EP300 |
E1A binding protein p300 |
|
ISO |
protein:increased serine phosphorylation:renal glomerulus (mouse) |
RGD |
PMID:23737551 |
RGD:7257568 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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G |
EPAS1 |
endothelial PAS domain protein 1 |
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ISO |
|
RGD |
PMID:17914354 |
RGD:10395377 |
NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
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G |
EPC2 |
enhancer of polycomb homolog 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
|
NCBI chr 2:148,644,751...148,787,569
Ensembl chr 2:148,644,440...148,787,569
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G |
EPO |
erythropoietin |
|
IEP |
protein:decreased expression:plasma mRNA:increased expression:retina |
RGD |
PMID:16911620 PMID:16936148 |
RGD:2313842, RGD:2313840 |
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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G |
ESR1 |
estrogen receptor 1 |
|
IAGP |
DNA:polymorphism DNA:snps:introns: rs3020314, rs985694, rs1884051(human) |
RGD |
PMID:17097034 PMID:18854778 |
RGD:2314012, RGD:2314003 |
NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
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G |
ESRRA |
estrogen related receptor alpha |
no_association |
IAGP |
|
RGD |
PMID:16755280 |
RGD:1625637 |
NCBI chr11:64,305,524...64,316,743
Ensembl chr11:64,305,497...64,316,743
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G |
ETS1 |
ETS proto-oncogene 1, transcription factor |
|
IEP ISO EXP |
protein:increased expression:nucleus CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30718926 PMID:19225563 PMID:19225563 |
RGD:2313847, RGD:2313847 |
NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558
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G |
F12 |
coagulation factor XII |
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IEP |
protein:increased activity:plasma (human) |
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,133...177,416,583
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G |
F2 |
coagulation factor II, thrombin |
|
IEP |
protein:increased expression:plasma associated with Myocardial Infarction |
RGD |
PMID:17971179 PMID:18487475 |
RGD:2313852, RGD:2313851 |
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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G |
F3 |
coagulation factor III, tissue factor |
|
IEP |
protein:increased activity:plasma |
RGD |
PMID:17785358 |
RGD:2312381 |
NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
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G |
F7 |
coagulation factor VII |
susceptibility no_association |
IDA ISO IEP |
protein:increased activity:plasma (human) associated with Kidney Failure; protein:increased expression:plasma (human) associated with Brain Infarction; protein:increased activity:plasma (human) |
RGD |
PMID:11689270 PMID:14614217 PMID:17785358 PMID:10332679 PMID:11137328 PMID:15860378 PMID:18000605 More...
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RGD:2312382, RGD:2312394, RGD:2312381, RGD:2312388, RGD:2312386, RGD:2312383, RGD:2312380 |
NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
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G |
F8 |
coagulation factor VIII |
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IEP |
protein:increased activity:plasma (human) |
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr X:154,835,792...155,022,723
Ensembl chr X:154,835,788...155,026,940
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G |
F9 |
coagulation factor IX |
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IEP |
protein:increased activity:plasma (human) |
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr X:139,530,739...139,563,459
Ensembl chr X:139,530,739...139,563,459
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G |
FABP2 |
fatty acid binding protein 2 |
no_association |
IAGP |
DNA:polymorphism:CDS:amino acid A54T, in a population from urban south India |
RGD |
PMID:16919542 |
RGD:1626401 |
NCBI chr 4:119,317,250...119,322,138
Ensembl chr 4:119,317,250...119,322,138
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G |
FABP3 |
fatty acid binding protein 3 |
susceptibility |
IAGP |
DNA:deletion:3' utr:c.634+483delT (human) |
RGD |
PMID:12872269 |
RGD:1578461 |
NCBI chr 1:31,359,588...31,373,076
Ensembl chr 1:31,365,253...31,376,850
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G |
FAM234A |
family with sequence similarity 234 member A |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr16:234,821...269,963
Ensembl chr16:234,521...272,183
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G |
FAS |
Fas cell surface death receptor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
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NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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G |
FASLG |
Fas ligand |
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IAGP |
DNA:repeats:3' utr (human) |
RGD |
PMID:16691186 |
RGD:2315750 |
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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G |
FBL |
fibrillarin |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,834,458...39,846,379
Ensembl chr19:39,834,458...39,846,379
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G |
FBN1 |
fibrillin 1 |
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ISO |
|
RGD |
PMID:20836762 |
RGD:7257556 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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G |
FBXO17 |
F-box protein 17 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,941,401...38,975,742
Ensembl chr19:38,941,401...38,975,742
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G |
FBXO27 |
F-box protein 27 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,005,842...39,032,549
Ensembl chr19:38,990,714...39,032,785
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G |
FCGBP |
Fc gamma binding protein |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,863,323...39,934,634
Ensembl chr19:39,863,323...39,934,626
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G |
FEM1B |
fem-1 homolog B |
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ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
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NCBI chr15:68,277,745...68,295,862
Ensembl chr15:68,277,745...68,295,862
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G |
FFAR1 |
free fatty acid receptor 1 |
ameliorates |
IMP IDA |
|
RGD |
PMID:19401434 PMID:19758793 |
RGD:150517551, RGD:2315761 |
NCBI chr19:35,347,902...35,353,864
Ensembl chr19:35,347,902...35,353,864
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G |
FGA |
fibrinogen alpha chain |
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IEP |
protein:increased activity:plasma (human) |
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
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G |
FGB |
fibrinogen beta chain |
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IEP |
protein:increased expression:plasma |
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
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G |
FGF2 |
fibroblast growth factor 2 |
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IEP |
protein:increased expression:serum |
RGD |
PMID:18279437 |
RGD:2315844 |
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
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G |
FGF21 |
fibroblast growth factor 21 |
treatment |
ISO EXP |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:26797127 PMID:21293445 |
RGD:10401914 |
NCBI chr19:48,755,524...48,758,330
Ensembl chr19:48,755,524...48,758,333
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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ISO |
|
RGD |
PMID:22174314 |
RGD:10401888 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
FGG |
fibrinogen gamma chain |
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IEP |
protein:increased activity:plasma (human) |
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
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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 chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
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G |
FOXA2 |
forkhead box A2 |
no_association |
IAGP |
DNA:SNP, repeat: :rs1055080 (human) DNA:transversion, transitions:promoter, exon:multiple DNA:missense mutation:p.A86T (human) |
RGD |
PMID:18797817 PMID:10868949 PMID:11043867 |
RGD:2313242, RGD:2313246, RGD:2313245 |
NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
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G |
FOXC2 |
forkhead box C2 |
no_association |
IAGP |
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 chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728
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G |
FOXM1 |
forkhead box M1 |
|
ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
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NCBI chr12:2,857,680...2,877,174
Ensembl chr12:2,857,680...2,877,174
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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 chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
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G |
FRZB |
frizzled related protein |
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IEP |
protein, decreased expression:skeletal muscle, serum (human) |
RGD |
PMID:28240822 |
RGD:32716394 |
NCBI chr 2:182,833,275...182,866,637
Ensembl chr 2:182,833,275...182,866,637
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G |
FTO |
FTO alpha-ketoglutarate dependent dioxygenase |
susceptibility no_association |
EXP IAGP 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 chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
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G |
FUCA1 |
alpha-L-fucosidase 1 |
|
IEP |
protein:increased activity:serum |
RGD |
PMID:16176171 |
RGD:2315931 |
NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290
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G |
FXN |
frataxin |
no_association |
IAGP |
DNA:repeats:intron:GAA (human) |
RGD |
PMID:10102715 PMID:9588463 |
RGD:2307051, RGD:2307050 |
NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
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G |
G6PC1 |
glucose-6-phosphatase catalytic subunit 1 |
|
ISO IEP |
protein:increased activity:liver |
RGD |
PMID:16396963 PMID:10866049 PMID:8865366 |
RGD:2315959, RGD:2315966, RGD:728661 |
NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438
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G |
G6PD |
glucose-6-phosphate dehydrogenase |
|
IEP |
protein:decreased expression:reticulocyte, erythrocyte |
RGD |
PMID:12853069 |
RGD:2307349 |
NCBI chr X:154,531,390...154,547,569
Ensembl chr X:154,517,825...154,547,572
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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 chr19:12,953,119...12,957,223
Ensembl chr19:12,953,119...12,957,223
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G |
GAL |
galanin and GMAP prepropeptide |
|
IEP |
protein:increased expression:blood |
RGD |
PMID:15735230 |
RGD:2313738 |
NCBI chr11:68,684,544...68,691,175
Ensembl chr11:68,683,779...68,691,175
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G |
GAPDH |
glyceraldehyde-3-phosphate dehydrogenase |
|
ISO |
protein:decreased acetylation |
RGD |
PMID:28258188 |
RGD:13792662 |
NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
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G |
GCG |
glucagon |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23466488 |
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NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404
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G |
GCGR |
glucagon receptor |
|
IAGP |
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 chr17:81,804,150...81,814,008
Ensembl chr17:81,804,132...81,814,008
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G |
GCH1 |
GTP cyclohydrolase 1 |
|
IAGP |
DNA:SNPs,haplotypes: :multiple |
RGD |
PMID:25369080 |
RGD:329961331 |
NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
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G |
GCK |
glucokinase |
no_association treatment |
IAGP ISO EXP ISS |
DNA:polymorphisms:multiple:no association between multiple SSLP and SNP alleles and T2DM in a Japanese population MODY2, OMIM:125851;DNA:point mutation:E279X DNA:polymorphisms::significant association between alleles of two SSLPs and T2DM in a Japanese population DNA:microsatellite marker genotypes:3', 5':no association between genotypes of upstream or downstream microsatellite markers and T2DM in Welsh Caucasians 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: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: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:1570017 PMID:8325445 PMID:8314445 PMID:22234649 More...
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RGD:2301887, RGD:1601292, RGD:2301889, RGD:2301883, RGD:7488969 |
NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
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G |
GCKR |
glucokinase regulator |
|
IMP IAGP EXP |
DNA:SNP::rs1260326(human) DNA:polymorphism: :rs780094 (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20081858 PMID:11473043 PMID:18556336 PMID:19241058 PMID:21411509 |
RGD:2315986, RGD:2315985, RGD:2315983, RGD:7242280 |
NCBI chr 2:27,496,839...27,523,684
Ensembl chr 2:27,496,839...27,523,684
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G |
GCLC |
glutamate-cysteine ligase catalytic subunit |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:32715377 |
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NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970
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G |
GCLM |
glutamate-cysteine ligase modifier subunit |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:32715377 |
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NCBI chr 1:93,885,199...93,909,430
Ensembl chr 1:93,885,199...93,909,456
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G |
GFPT1 |
glutamine--fructose-6-phosphate transaminase 1 |
|
IEP |
|
RGD |
PMID:17574229 |
RGD:2313352 |
NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250
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G |
GFPT2 |
glutamine-fructose-6-phosphate transaminase 2 |
susceptibility |
IAGP |
DNA:missense mutation, SNPs:exon, 3' utr:multiple |
RGD |
PMID:14764791 |
RGD:2307362 |
NCBI chr 5:180,300,698...180,353,336
Ensembl chr 5:180,300,698...180,353,336
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G |
GGT1 |
gamma-glutamyltransferase 1 |
|
IEP |
|
RGD |
PMID:19936701 |
RGD:2315593 |
NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005
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G |
GH1 |
growth hormone 1 |
treatment |
ISO |
|
RGD |
PMID:26379831 |
RGD:11352744 |
NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
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G |
GHR |
growth hormone receptor |
|
IAGP |
DNA:deletion:exon (human) |
RGD |
PMID:17537658 |
RGD:2307363 |
NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
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|
G |
GHRL |
ghrelin and obestatin prepropeptide |
susceptibility |
IAGP |
DNA:polymorphism: :p.L72M (human) |
RGD |
PMID:18848536 |
RGD:2313749 |
NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947
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G |
GIP |
gastric inhibitory polypeptide |
|
ISO IDA |
disease in rat treated with human protein |
RGD |
PMID:18937625 PMID:19056762 PMID:19126188 PMID:19473824 |
RGD:2312589, RGD:2312529, RGD:2312591, RGD:2312587 |
NCBI chr17:48,958,554...48,968,596
Ensembl chr17:48,958,554...48,968,596
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G |
GIPR |
gastric inhibitory polypeptide receptor |
|
ISO IEP |
protein:decreased expression:pancreatic islet (human) |
RGD |
PMID:11334402 PMID:19386626 |
RGD:68929, RGD:2312454 |
NCBI chr19:45,668,221...45,683,722
Ensembl chr19:45,668,221...45,683,722
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G |
GJA1 |
gap junction protein alpha 1 |
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ISO |
protein:increased phosphorylation:kidney |
RGD |
PMID:21573906 |
RGD:7207393 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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G |
GLIS3 |
GLIS family zinc finger 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22158537 |
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NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392
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G |
GLO1 |
glyoxalase I |
|
IAGP |
DNA:point mutation: :c.332A>C (human) |
RGD |
PMID:18413187 |
RGD:7242567 |
NCBI chr 6:38,675,925...38,703,145
Ensembl chr 6:38,675,925...38,703,145
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|
G |
GLP1R |
glucagon like peptide 1 receptor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
|
NCBI chr 6:39,048,781...39,091,303
Ensembl chr 6:39,048,781...39,091,303
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G |
GMFG |
glia maturation factor gamma |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,328,359...39,336,043
Ensembl chr19:39,328,353...39,342,372
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G |
GNB3 |
G protein subunit beta 3 |
|
IAGP EXP |
DNA:polymorphism: :825C>T (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12511541 PMID:18656447 |
RGD:2313204 |
NCBI chr12:6,840,925...6,847,393
Ensembl chr12:6,839,954...6,847,393
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G |
GP2 |
glycoprotein 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
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NCBI chr16:20,309,574...20,327,513
Ensembl chr16:20,309,574...20,327,808
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G |
GP6 |
glycoprotein VI platelet |
|
IEP IAGP |
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 chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264
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G |
GPD2 |
glycerol-3-phosphate dehydrogenase 2 |
susceptibility |
IAGP EXP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:9070847 PMID:16123366 PMID:25741868 |
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NCBI chr 2:156,400,281...156,586,403
Ensembl chr 2:156,435,290...156,613,735
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G |
GPT |
glutamic--pyruvic transaminase |
|
ISO |
protein:increased expression, activity:liver: |
RGD |
PMID:25865565 |
RGD:11342811 |
NCBI chr 8:144,503,068...144,507,172
Ensembl chr 8:144,502,973...144,507,174
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G |
GPT2 |
glutamic--pyruvic transaminase 2 |
|
ISO |
protein:increased expression, activity:liver: |
RGD |
PMID:25865565 |
RGD:11342811 |
NCBI chr16:46,884,362...46,931,289
Ensembl chr16:46,884,362...46,931,289
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G |
GPX1 |
glutathione peroxidase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 PMID:23795780 |
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NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605
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G |
GPX3 |
glutathione peroxidase 3 |
treatment |
IDA IEP |
protein:decreased expression:plasma (human) |
RGD |
PMID:18936159 PMID:18936159 PMID:24102912 |
RGD:2312632, RGD:2312632, RGD:401827847 |
NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
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G |
GRB14 |
growth factor receptor bound protein 14 |
susceptibility |
EXP IAGP |
CTD Direct Evidence: marker/mechanism associated with Environmental Illness; DNA:SNP:: (rs13389219) (Human) |
CTD RGD |
PMID:21874001 PMID:27281273 |
RGD:401850598 |
NCBI chr 2:164,492,417...164,621,482
Ensembl chr 2:164,492,417...164,621,482
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G |
GSK3B |
glycogen synthase kinase 3 beta |
treatment |
ISO |
|
RGD |
PMID:20821187 PMID:27164497 |
RGD:10045562, RGD:13792739 |
NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994
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G |
GSTM1 |
glutathione S-transferase mu 1 |
susceptibility no_association |
IAGP EXP |
DNA:deletion: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22652274 PMID:17979505 PMID:16413497 PMID:20739761 |
RGD:2306627, RGD:2306628, RGD:5490963 |
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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G |
GSTP1 |
glutathione S-transferase pi 1 |
susceptibility |
IAGP |
DNA:polymorphism:exon:p.I105V (rs1695) (human) |
RGD |
PMID:20739761 |
RGD:5490963 |
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
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G |
GSTT1 |
glutathione S-transferase theta 1 |
susceptibility |
IAGP |
|
RGD |
PMID:17979505 |
RGD:2306627 |
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G |
H19 |
H19 imprinted maternally expressed transcript |
sexual_dimorphism |
IEP |
RNA:decrased expression:blood serum (human) |
RGD |
PMID:33116722 |
RGD:243048436 |
NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,166...2,004,552
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G |
HBA1 |
hemoglobin subunit alpha 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16632892 |
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NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522
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G |
HDAC1 |
histone deacetylase 1 |
|
ISO |
protein:increased activity:kidney: |
RGD |
PMID:19553350 |
RGD:9590229 |
NCBI chr 1:32,292,083...32,333,626
Ensembl chr 1:32,292,083...32,333,635
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G |
HDAC2 |
histone deacetylase 2 |
|
ISO |
protein:increased activity:kidney: |
RGD |
PMID:19553350 |
RGD:9590229 |
NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
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G |
HECTD4 |
HECT domain E3 ubiquitin protein ligase 4 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35713687 |
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NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439
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G |
HFE |
homeostatic iron regulator |
susceptibility |
IAGP |
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 chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
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G |
HHEX |
hematopoietically expressed homeobox |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23104008 |
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NCBI chr10:92,689,955...92,695,647
Ensembl chr10:92,689,955...92,695,647
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G |
HIF1A |
hypoxia inducible factor 1 subunit alpha |
susceptibility |
ISO IAGP IEP |
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 chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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G |
HIPK4 |
homeodomain interacting protein kinase 4 |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:40,379,271...40,390,181
Ensembl chr19:40,379,271...40,390,181
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G |
HK1 |
hexokinase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
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NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884
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G |
HK2 |
hexokinase 2 |
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IDA ISO |
mRNA:decreased expression:epididymal fat pad, quadriceps |
RGD |
PMID:11319725 PMID:7813813 |
RGD:2313227, RGD:2313229 |
NCBI chr 2:74,834,127...74,893,359
Ensembl chr 2:74,834,127...74,893,359
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G |
HLA-DQA1 |
major histocompatibility complex, class II, DQ alpha 1 |
susceptibility |
IAGP |
|
RGD |
PMID:16331578 |
RGD:2301814 |
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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G |
HLA-DRB5 |
major histocompatibility complex, class II, DR beta 5 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr 6:32,517,353...32,530,287
Ensembl chr 6:32,517,353...32,530,287
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G |
HMG20A |
high mobility group 20A |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21874001 |
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NCBI chr15:77,420,888...77,520,050
Ensembl chr15:77,420,412...77,485,607
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G |
HMGA1 |
high mobility group AT-hook 1 |
susceptibility |
EXP IAGP 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 chr 6:34,236,873...34,246,231
Ensembl chr 6:34,236,873...34,246,231
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G |
HMGCR |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
IAGP ISO |
DNA:polymorphism (human) |
RGD |
PMID:17870053 PMID:15312879 |
RGD:2313753, RGD:2313759 |
NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
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G |
HMOX1 |
heme oxygenase 1 |
treatment |
IAGP ISO EXP |
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 chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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G |
HNF1A |
HNF1 homeobox A |
susceptibility onset |
IAGP EXP ISS |
Maturity-onset diabetes of the young type III, OMIM:600496;DNA:insertions, deletions, point mutations: :multiple DNA:SNP::rs1169288 associated with future risk of developing T2DM (p=0.0002) in individuals from the Botnia study in Finland and the Malmo project in Sweden DNA:deletions:exon:multiple DNA:nonsense mutations, missense mutations: :multiple CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus DNA:SNP:cds: p.G319S (human) associated with nicotine dependence; DNA:SNP:cds: p.G319S (human) ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 ClinVar Annotator: match by term: Type II diabetes mellitus ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST |
OMIM CTD ClinVar MouseDO RGD |
PMID:8945470 PMID:9112026 PMID:9133564 PMID:9287053 PMID:9313764 PMID:9604876 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:23348805 PMID:23607861 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:32928877 PMID:33363396 PMID:33651556 PMID:34668636 PMID:34803393 PMID:35299962 PMID:35328643 PMID:35673428 PMID:8945470 PMID:18332101 PMID:17828387 PMID:18003757 PMID:20716378 PMID:27087001 PMID:21208426 More...
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RGD:1601479, RGD:2301863, RGD:2301828, RGD:2301827, RGD:329901814, RGD:329901816, RGD:329901835 |
NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512
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G |
HNF1B |
HNF1 homeobox B |
susceptibility no_association |
IAGP EXP |
DNA:deletions:cds:multiple (human) renal cysts and diabetes syndrome, OMIM:137920;DNA:splice-site mutation:intron:IVS2+1G>A CTD Direct Evidence: marker/mechanism|therapeutic 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 |
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:17878605 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:31131422 PMID:31198537 PMID:31498910 PMID:31825128 PMID:32266039 PMID:32708349 PMID:33046911 PMID:33434175 PMID:33532864 PMID:33663443 PMID:33851123 PMID:19417042 PMID:11317673 PMID:15883474 More...
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RGD:2312748, RGD:1601484, RGD:2312750 |
NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
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G |
HNF4A |
hepatocyte nuclear factor 4 alpha |
susceptibility |
IAGP ISO EXP |
DNA:SNP::rs4810424 and rs3212198 nominally associated with future risk of developing T2DM (p=0.04) in individuals from the Botnia study in Finland and the Malmo project in Sweden type I maturity-onset diabetes of the young, OMIM:125850; DNA:nonsense mutation:CDS:C->T, amino acid Q268X DNA:SNPs:promoter:(human) DNA:missense mutation:exon:p.T130I protein:decreased expression:liver: mRNA:decreased expression:liver,pancreas CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset |
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:18332101 PMID:8945471 PMID:18728231 PMID:18028455 PMID:19179483 PMID:19252740 More...
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RGD:2301863, RGD:1601637, RGD:2301836, RGD:2301839, RGD:12904769, RGD:12904770 |
NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845
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G |
HNRNPL |
heterogeneous nuclear ribonucleoprotein L |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,836,370...38,852,347
Ensembl chr19:38,836,370...38,852,347
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G |
HP |
haptoglobin |
treatment |
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16506275 PMID:19996384 |
RGD:6483015 |
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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G |
HPX |
hemopexin |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16506275 |
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NCBI chr11:6,431,049...6,440,987
Ensembl chr11:6,431,049...6,442,617
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G |
HSD11B1 |
hydroxysteroid 11-beta dehydrogenase 1 |
susceptibility |
TAS IAGP |
potential therapeutic target DNA:SNPs:intron: (rs12086634,rs846910) (human) |
RGD |
PMID:16929377 PMID:28750217 |
RGD:1625075, RGD:329901909 |
NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
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G |
HSD11B2 |
hydroxysteroid 11-beta dehydrogenase 2 |
|
IEP |
mRNA, protein:increased expression:skeletal muscle |
RGD |
PMID:17519316 |
RGD:2308922 |
NCBI chr16:67,429,801...67,437,553
Ensembl chr16:67,430,652...67,437,553
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G |
HSD17B3 |
hydroxysteroid 17-beta dehydrogenase 3 |
|
ISO |
mRNA:decreased expression:testis, Leydig cell (rat) |
RGD |
PMID:18481435 |
RGD:4889107 |
NCBI chr 9:96,235,306...96,302,176
Ensembl chr 9:96,235,306...96,302,176
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|
G |
HSD3B1 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 |
|
ISO |
mRNA:decreased expression:testis, Leydig cell (rat) |
RGD |
PMID:18481435 |
RGD:4889107 |
NCBI chr 1:119,507,203...119,515,058
Ensembl chr 1:119,507,198...119,515,054
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G |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
ISO |
mRNA:decreased expression:testis, Leydig cell (rat) |
RGD |
PMID:18481435 |
RGD:4889107 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
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G |
HSF1 |
heat shock transcription factor 1 |
|
ISO |
protein:increased expression:heart (mouse) |
RGD |
PMID:24496227 |
RGD:10402557 |
NCBI chr 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720
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G |
HSPA1B |
heat shock protein family A (Hsp70) member 1B |
|
IAGP |
DNA:SNP:CDS:homozygous P2/P2 allele at position 1267 (p=0.001 for all diabetic patients, p=0.0012 for non-obese diabetic patients) |
RGD |
PMID:15223990 |
RGD:1626646 |
NCBI chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254
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G |
HSPA4 |
heat shock protein family A (Hsp70) member 4 |
|
IEP |
protein:increased expression:serum (human) |
RGD |
PMID:22349026 |
RGD:6218966 |
NCBI chr 5:133,052,013...133,106,449
Ensembl chr 5:133,052,013...133,106,449
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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:114,584,086...114,910,061
Ensembl chr X:114,584,078...114,910,061
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|
G |
IAPP |
islet amyloid polypeptide |
|
IEP IMP EXP 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:19100955 PMID:18641056 PMID:2441214 |
RGD:2311446, RGD:2313359, RGD:9686128 |
NCBI chr12:21,354,959...21,379,980
Ensembl chr12:21,354,959...21,379,980
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G |
ICAM1 |
intercellular adhesion molecule 1 |
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ISO IEP EXP |
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 chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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G |
ID1 |
inhibitor of DNA binding 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
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NCBI chr20:31,605,289...31,606,510
Ensembl chr20:31,605,283...31,606,515
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|
G |
IDE |
insulin degrading enzyme |
no_association |
IAGP ISO |
DNA:SNP,haplotype::no association with 21 single-marker SNPs or with 13 multi-marker haplotypes in 4206 individuals from Scandinavia and Canada DNA:haplotype::CC haplotype of SNPs rs2209972 and rs1887922 in men of European descent from the Framingham Heart Study DNA:missense mutations, haplotype:exon:p.H18R, p.A890V (rat) DNA:SNP:cds (rs6583813) (human) |
RGD |
PMID:16380485 PMID:12765971 PMID:12634421 PMID:10958757 PMID:23776430 |
RGD:1626698, RGD:1626697, RGD:737718, RGD:737717, RGD:405650683 |
NCBI chr10:92,451,684...92,574,093
Ensembl chr10:92,451,684...92,574,096
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G |
IFNG |
interferon gamma |
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IDA |
|
RGD |
PMID:18852529 |
RGD:2311491 |
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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G |
IFNL1 |
interferon lambda 1 |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,296,407...39,298,673
Ensembl chr19:39,296,407...39,298,673
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G |
IFNL2 |
interferon lambda 2 |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,268,396...39,270,188
Ensembl chr19:39,268,396...39,270,188
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G |
IFNL3 |
interferon lambda 3 |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,243,455...39,245,250
Ensembl chr19:39,243,455...39,245,250
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G |
IGF1 |
insulin like growth factor 1 |
|
ISO IDA |
|
RGD |
PMID:18986336 PMID:16005252 |
RGD:2306690, RGD:2313767 |
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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G |
IGF1R |
insulin like growth factor 1 receptor |
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ISO |
protein:decreased expression:pancreas protein:decreased expression:myocardium, blood vessel endothelial cell |
RGD |
PMID:17476475 PMID:18986336 |
RGD:2311504, RGD:2306690 |
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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G |
IGF2 |
insulin like growth factor 2 |
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ISO |
protein:decreased expression:pancreas |
RGD |
PMID:17476475 PMID:10727441 |
RGD:2311504, RGD:5510004 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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G |
IGF2BP2 |
insulin like growth factor 2 mRNA binding protein 2 |
susceptibility |
IAGP EXP |
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 chr 3:185,643,130...185,825,042
Ensembl chr 3:185,643,130...185,825,042
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G |
IGF2R |
insulin like growth factor 2 receptor |
susceptibility |
IAGP |
DNA:insertion, deletion:3' utr (human) |
RGD |
PMID:16868148 |
RGD:2311514 |
NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507
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G |
IGFBP3 |
insulin like growth factor binding protein 3 |
|
IDA |
|
RGD |
PMID:16005252 |
RGD:2313767 |
NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
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G |
IKBKB |
inhibitor of nuclear factor kappa B kinase subunit beta |
|
IDA |
|
RGD |
PMID:15685173 |
RGD:10045952 |
NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460
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G |
IL10 |
interleukin 10 |
susceptibility |
IAGP IEP |
DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human) |
RGD |
PMID:19031431 PMID:28843383 |
RGD:2308943, RGD:14975146 |
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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G |
IL13RA1 |
interleukin 13 receptor subunit alpha 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
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NCBI chr X:118,727,606...118,805,228
Ensembl chr X:118,727,133...118,794,535
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G |
IL1B |
interleukin 1 beta |
susceptibility |
IAGP IEP |
DNA:snp:exon:g.3968C>T rs1143634 (human) |
RGD |
PMID:21205020 PMID:28843383 |
RGD:7175255, RGD:14975146 |
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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G |
IL1RN |
interleukin 1 receptor antagonist |
susceptibility no_association disease_progression |
IAGP |
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 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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G |
IL6 |
interleukin 6 |
|
IAGP IEP ISO EXP |
DNA:polymorphism:promoter:-572C>G (human) protein:increased expression:extracellular space (human) mRNA:increased expression:adipose tissue 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:18573122 PMID:19175895 PMID:19084046 PMID:28303994 More...
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RGD:2307270, RGD:2307266, RGD:2307269, RGD:14975285 |
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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G |
IL6-AS1 |
IL6 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to |
ClinVar |
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 More...
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NCBI chr 7:22,725,395...22,727,620
Ensembl chr 7:22,725,395...22,727,620
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G |
INPPL1 |
inositol polyphosphate phosphatase like 1 |
|
IAGP EXP |
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 chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
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G |
INS |
insulin |
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IEP IAGP EXP ISS |
DNA:polymorphism:promoter CTD Direct Evidence: marker/mechanism|therapeutic ClinVar Annotator: match by term: Type 2 diabetes mellitus OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
CTD ClinVar MouseDO 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:3322910 PMID:1569197 More...
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RGD:2311112, RGD:1625120 |
NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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G |
INS-IGF2 |
INS-IGF2 readthrough |
|
IAGP ISO |
ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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 chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209
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G |
INSR |
insulin receptor |
treatment |
ISO IDA IAGP |
protein:decreased expression:kidney protein:increased serine phosphorylation, increased protein binding:liver protein:decreased phosphorylation:vastus lateralis:phosphotyrosine (human) ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar Annotator: match by term: Insulin-resistant 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:17855644 PMID:19251743 PMID:17050616 PMID:19224872 PMID:18972094 PMID:19251743 PMID:19340286 PMID:23700236 PMID:19017805 More...
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RGD:2290475, RGD:2307334, RGD:2307341, RGD:2307335, RGD:2307342, RGD:2307334, RGD:2307333, RGD:10403046, RGD:2314405 |
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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G |
IRS1 |
insulin receptor substrate 1 |
no_association |
IAGP ISO EXP ISS |
DNA:point mutation:exon:T608R DNA:polymorphisms: :p.P512A, p.G971R (human) DNA:SNP:promoter:-446G>A, -7120G>A (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 CTD MouseDO 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 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
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G |
IRS2 |
insulin receptor substrate 2 |
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IAGP ISO EXP 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 chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583
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G |
ISL1 |
ISL LIM homeobox 1 |
|
IAGP ISO |
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 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730
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G |
ITGA1 |
integrin subunit alpha 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
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NCBI chr 5:52,787,916...52,959,209
Ensembl chr 5:52,787,916...52,959,209
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G |
ITGA2 |
integrin subunit alpha 2 |
|
IDA IEP |
protein:increased expression:platelet (human) |
RGD |
PMID:15025679 PMID:15025679 |
RGD:2307425, RGD:2307425 |
NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
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G |
ITGAM |
integrin subunit alpha M |
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ISO |
protein:increased expression:neutrophil (rat) |
RGD |
PMID:21699626 |
RGD:329902064 |
NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
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G |
ITLN1 |
intelectin 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23555749 |
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NCBI chr 1:160,876,540...160,885,180
Ensembl chr 1:160,876,540...160,885,180
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G |
JADE2 |
jade family PHD finger 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr 5:134,523,952...134,583,227
Ensembl chr 5:134,524,312...134,583,230
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G |
JAZF1 |
JAZF zinc finger 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18372903 |
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NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795
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G |
KCNJ11 |
potassium inwardly rectifying channel subfamily J member 11 |
|
IAGP TAS ISO EXP |
DNA:polymorphism: :p.E23K (human) polymorphisms in the gene are linked to altered insulin secretion; E23K polymorphism appears to confer susceptibility to diabetes type-2 in Caucasian population DNA:SNP DNA:missense mutation::p.E23K (human) mRNA:increased expression:heart CTD Direct Evidence: marker/mechanism 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 |
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: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:19498446 PMID:15565284 PMID:19502414 PMID:17259403 PMID:24681897 More...
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RGD:2311534, RGD:2313610, RGD:2311533, RGD:2313628, RGD:12790969 |
NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331
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G |
KCNK16 |
potassium two pore domain channel subfamily K member 16 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22158537 |
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NCBI chr 6:39,314,570...39,322,968
Ensembl chr 6:39,314,698...39,322,968
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G |
KCNMB1 |
potassium calcium-activated channel subfamily M regulatory beta subunit 1 |
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ISO |
protein:decreased expression:aorta |
RGD |
PMID:18790848 |
RGD:10412045 |
NCBI chr 5:170,374,671...170,389,367
Ensembl chr 5:170,374,671...170,389,634
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G |
KCNN4 |
potassium calcium-activated channel subfamily N member 4 |
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ISO |
protein:increased expression:aorta (rat) |
RGD |
PMID:21463632 |
RGD:401794561 |
NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976
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G |
KCNQ1 |
potassium voltage-gated channel subfamily Q member 1 |
susceptibility |
EXP IAGP |
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 chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
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G |
KCNU1 |
potassium calcium-activated channel subfamily U member 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr 8:36,784,374...36,936,125
Ensembl chr 8:36,784,324...36,936,125
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G |
KDR |
kinase insert domain receptor |
|
IEP |
protein:decreased expression:skin, blood vessel |
RGD |
PMID:17898089 |
RGD:5684411 |
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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G |
KIF6 |
kinesin family member 6 |
sexual_dimorphism |
IAGP |
DNA:SNP: :p.W719R (rs20455) (human) |
RGD |
PMID:25629058 |
RGD:243048454 |
NCBI chr 6:39,329,990...39,725,408
Ensembl chr 6:39,329,990...39,725,408
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G |
KL |
klotho |
|
ISO EXP |
mRNA:decreased expression:kidney: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28869590 PMID:23967103 |
RGD:10044235 |
NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143
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G |
KLF11 |
KLF transcription factor 11 |
|
IAGP |
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 2:10,043,550...10,054,836
Ensembl chr 2:10,042,849...10,054,836
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G |
KLF14 |
KLF transcription factor 14 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29632379 |
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NCBI chr 7:130,730,697...130,734,207
Ensembl chr 7:130,730,697...130,734,207
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G |
KMT2D |
lysine methyltransferase 2D |
|
ISO |
|
RGD |
PMID:23826075 |
RGD:9588237 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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G |
KSR2 |
kinase suppressor of ras 2 |
|
EXP IAGP |
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 chr12:117,453,012...117,968,990
Ensembl chr12:117,453,012...117,968,990
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G |
LCN2 |
lipocalin 2 |
|
IEP |
protein:increased expression:serum: |
RGD |
PMID:19949414 |
RGD:126779589 |
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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G |
LEP |
leptin |
susceptibility |
ISO EXP IAGP 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 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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G |
LEPR |
leptin receptor |
susceptibility treatment |
IAGP ISO EXP 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 |
CTD MouseDO RGD |
PMID:20175764 PMID:22933112 PMID:24263156 PMID:26939912 PMID:17065694 PMID:18439701 PMID:16284652 PMID:23154293 PMID:22215535 More...
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RGD:2311144, RGD:2311141, RGD:10412018, RGD:13432147, RGD:14696694 |
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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G |
LEUTX |
leucine twenty homeobox |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,776,453...39,786,291
Ensembl chr19:39,776,595...39,786,291
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G |
LGALS13 |
galectin 13 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,602,524...39,607,474
Ensembl chr19:39,602,524...39,607,474
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G |
LGALS14 |
galectin 14 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,704,481...39,709,444
Ensembl chr19:39,704,481...39,709,444
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G |
LGALS16 |
galectin 16 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,655,913...39,660,647
Ensembl chr19:39,655,913...39,660,647
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G |
LGALS4 |
galectin 4 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,801,674...38,812,945
Ensembl chr19:38,801,671...38,812,945
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G |
LGALS7 |
galectin 7 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,770,968...38,773,517
Ensembl chr19:38,789,200...38,791,754 Ensembl chr19:38,789,200...38,791,754
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G |
LGALS7B |
galectin 7B |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,789,200...38,791,754
Ensembl chr19:38,789,200...38,791,754 Ensembl chr19:38,789,200...38,791,754
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G |
LIPC |
lipase C, hepatic type |
susceptibility |
IAGP IDA EXP |
DNA:transition:promoter:-250G>A (human) protein:increased expression:plasma (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 |
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 chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844
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G |
LIPE |
lipase E, hormone sensitive type |
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IEP |
mRNA:decreased expression:subcutaneous adipose tissue |
RGD |
PMID:15609025 |
RGD:2313584 |
NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,514...42,427,388
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G |
LMNA |
lamin A/C |
no_association |
IAGP |
DNA:SNPs |
RGD |
PMID:17327437 PMID:17327461 |
RGD:1624985, RGD:1624984 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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G |
LNPEP |
leucyl and cystinyl aminopeptidase |
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ISO IEP |
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RGD |
PMID:16967782 PMID:11701721 |
RGD:2306436, RGD:2311542 |
NCBI chr 5:96,936,080...97,037,513
Ensembl chr 5:96,935,394...97,037,513
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G |
LOC110121471 |
VISTA enhancer hs1977 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:25741868 |
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NCBI chr11:17,412,970...17,415,128
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G |
LOC110121472 |
VISTA enhancer hs1980 |
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IAGP |
ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:16415884 PMID:17206141 PMID:17245407 PMID:17460697 PMID:17463248 PMID:17463249 PMID:17470138 PMID:17503332 PMID:17609304 PMID:17671651 PMID:18097733 PMID:19602480 PMID:20118932 PMID:21673050 More...
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NCBI chr10:112,997,945...112,998,897
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G |
LOC114803475 |
PPARG eExon liver enhancer |
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IAGP |
ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:12,405,503...12,406,702
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G |
LOC126807011 |
MED14-independent group 3 enhancer GRCh37_chr4:26407341-26408540 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:29924900 |
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NCBI chr 4:26,405,719...26,406,918
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G |
LOC126859963 |
BRD4-independent group 4 enhancer GRCh37_chr7:22766269-22767468 |
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IAGP |
ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to |
ClinVar |
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 More...
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NCBI chr 7:22,726,650...22,727,849
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G |
LOC126862549 |
BRD4-independent group 4 enhancer GRCh37_chr17:36093401-36094600 |
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IAGP |
ClinVar Annotator: match by term: Type II diabetes mellitus ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:19639018 PMID:23539225 PMID:24897035 PMID:25536396 PMID:25700310 PMID:25741167 PMID:25741868 PMID:26340261 PMID:27615128 PMID:28215227 PMID:28492532 PMID:33434175 More...
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NCBI chr17:37,733,408...37,734,611
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G |
LPL |
lipoprotein lipase |
treatment |
IAGP IEP ISO |
DNA:SNP:intron:13836C>A (rs343) (human) associated with Obesity |
RGD |
PMID:8641022 PMID:18985010 PMID:18321693 PMID:29981201 |
RGD:1580537, RGD:2313298, RGD:2313304, RGD:13793399 |
NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
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G |
LRFN1 |
leucine rich repeat and fibronectin type III domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,306,566...39,320,863
Ensembl chr19:39,306,566...39,320,863
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G |
LTA |
lymphotoxin alpha |
onset no_association |
IAGP |
DNA:polymorphism: :p.T60N (human) |
RGD |
PMID:15729581 PMID:16132956 |
RGD:1625033, RGD:2313261 |
NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
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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 |
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NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
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G |
MAEA |
macrophage erythroblast attacher, E3 ubiquitin ligase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22158537 |
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NCBI chr 4:1,289,891...1,340,137
Ensembl chr 4:1,289,887...1,340,147
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G |
MAFA |
MAF bZIP transcription factor A |
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IEP 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 8:143,428,064...143,430,732
Ensembl chr 8:143,419,182...143,430,732
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G |
MAP1LC3A |
microtubule associated protein 1 light chain 3 alpha |
treatment |
ISO |
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RGD |
PMID:21820301 |
RGD:11561956 |
NCBI chr20:34,546,844...34,560,345
Ensembl chr20:34,546,854...34,560,345
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G |
MAP3K10 |
mitogen-activated protein kinase kinase kinase 10 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:40,191,426...40,215,575
Ensembl chr19:40,191,426...40,215,575
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G |
MAP3K8 |
mitogen-activated protein kinase kinase kinase 8 |
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ISO |
protein:increased activity:serum: |
RGD |
PMID:28724746 |
RGD:151356966 |
NCBI chr10:30,434,021...30,461,833
Ensembl chr10:30,434,021...30,461,833
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G |
MAPK1 |
mitogen-activated protein kinase 1 |
treatment |
ISO |
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 chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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G |
MAPK3 |
mitogen-activated protein kinase 3 |
treatment |
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 chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
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G |
MAPK8 |
mitogen-activated protein kinase 8 |
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ISO IDA |
protein:hyperphosphorylation:pancreatic islet: |
RGD |
PMID:21911753 PMID:21911753 |
RGD:13506785, RGD:13506785 |
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
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G |
MAPK8IP1 |
mitogen-activated protein kinase 8 interacting protein 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus |
OMIM ClinVar CTD |
PMID:10700186 |
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NCBI chr11:45,885,651...45,906,465
Ensembl chr11:45,885,651...45,906,465
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G |
MAPK9 |
mitogen-activated protein kinase 9 |
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ISO IDA |
protein:hyperphosphorylation:pancreatic islet: |
RGD |
PMID:21911753 PMID:21911753 |
RGD:13506785, RGD:13506785 |
NCBI chr 5:180,233,143...180,292,083
Ensembl chr 5:180,233,143...180,292,099
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G |
MAT1A |
methionine adenosyltransferase 1A |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23665415 |
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NCBI chr10:80,271,820...80,289,658
Ensembl chr10:80,271,820...80,289,658
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G |
MATN4 |
matrilin 4 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
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NCBI chr20:45,293,450...45,308,684
Ensembl chr20:45,293,445...45,308,529
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G |
MED29 |
mediator complex subunit 29 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,391,378...39,400,641
Ensembl chr19:39,391,303...39,400,641
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G |
MFN2 |
mitofusin 2 |
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IEP |
mRNA:decreased expression:skeletal muscle tissue (human) |
RGD |
PMID:16123358 |
RGD:13204820 |
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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G |
MIF |
macrophage migration inhibitory factor |
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ISO |
mRNA, protein:increased expression:kidney cortex, epithelial cell |
RGD |
PMID:16571782 |
RGD:1641984 |
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
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G |
MIR10B |
microRNA 10b |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 2:176,150,303...176,150,412
Ensembl chr 2:176,150,303...176,150,412
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G |
MIR122 |
microRNA 122 |
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IEP |
miRNA:increased expression:serum |
RGD |
PMID:27899485 |
RGD:14401601 |
NCBI chr18:58,451,074...58,451,158
Ensembl chr18:58,451,074...58,451,158
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G |
MIR1226 |
microRNA 1226 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 3:47,849,555...47,849,629
Ensembl chr 3:47,849,555...47,849,629
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G |
MIR1228 |
microRNA 1228 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr12:57,194,504...57,194,576
Ensembl chr12:57,194,504...57,194,576
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G |
MIR1249 |
microRNA 1249 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr22:45,200,954...45,201,019
Ensembl chr22:45,200,954...45,201,019
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G |
MIR125B1 |
microRNA 125b-1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
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NCBI chr11:122,099,757...122,099,844
Ensembl chr11:122,099,757...122,099,844
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G |
MIR126 |
microRNA 126 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
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NCBI chr 9:136,670,602...136,670,686
Ensembl chr 9:136,670,602...136,670,686
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G |
MIR1260A |
microRNA 1260a |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr14:77,266,218...77,266,290
Ensembl chr14:77,266,218...77,266,290
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G |
MIR1260B |
microRNA 1260b |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr11:96,341,438...96,341,526
Ensembl chr11:96,341,438...96,341,526
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G |
MIR127 |
microRNA 127 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr14:100,882,979...100,883,075
Ensembl chr14:100,882,979...100,883,075
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G |
MIR1296 |
microRNA 1296 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr10:63,372,957...63,373,048
Ensembl chr10:63,372,957...63,373,048
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G |
MIR1301 |
microRNA 1301 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 2:25,328,640...25,328,721
Ensembl chr 2:25,328,640...25,328,721
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G |
MIR1306 |
microRNA 1306 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr22:20,086,058...20,086,142
Ensembl chr22:20,086,058...20,086,142
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G |
MIR1307 |
microRNA 1307 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr10:103,394,253...103,394,401
Ensembl chr10:103,394,253...103,394,401
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G |
MIR130B |
microRNA 130b |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
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NCBI chr22:21,653,304...21,653,385
Ensembl chr22:21,653,304...21,653,385
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G |
MIR140 |
microRNA 140 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
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NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180
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G |
MIR141 |
microRNA 141 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr12:6,964,097...6,964,191
Ensembl chr12:6,964,097...6,964,191
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G |
MIR142 |
microRNA 142 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
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NCBI chr17:58,331,232...58,331,318
Ensembl chr17:58,331,232...58,331,318
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G |
MIR144 |
microRNA 144 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr17:28,861,533...28,861,618
Ensembl chr17:28,861,533...28,861,618
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G |
MIR146B |
microRNA 146b |
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IEP |
RNA:increased expression:arteriole |
RGD |
PMID:29374012 |
RGD:13702880 |
NCBI chr10:102,436,512...102,436,584
Ensembl chr10:102,436,512...102,436,584
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G |
MIR151A |
microRNA 151a |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 8:140,732,564...140,732,653
Ensembl chr 8:140,732,564...140,732,653
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G |
MIR155 |
microRNA 155 |
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IEP |
miRNA:decreased expression:serum |
RGD |
PMID:30852102 PMID:27711113 |
RGD:21079478, RGD:25671464 |
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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G |
MIR17HG |
miR-17-92a-1 cluster host gene |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr13:91,347,687...91,354,577
Ensembl chr13:91,347,686...91,397,592
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G |
MIR181C |
microRNA 181c |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr19:13,874,699...13,874,808
Ensembl chr19:13,874,699...13,874,808
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G |
MIR1908 |
microRNA 1908 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr11:61,815,161...61,815,240
Ensembl chr11:61,815,161...61,815,240
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G |
MIR192 |
microRNA 192 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
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NCBI chr11:64,891,137...64,891,246
Ensembl chr11:64,891,137...64,891,246
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G |
MIR195 |
microRNA 195 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
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NCBI chr17:7,017,615...7,017,701
Ensembl chr17:7,017,615...7,017,701
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G |
MIR200A |
microRNA 200a |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 1:1,167,863...1,167,952
Ensembl chr 1:1,167,863...1,167,952
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G |
MIR203A |
microRNA 203a |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr14:104,117,405...104,117,514
Ensembl chr14:104,117,405...104,117,514
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G |
MIR204 |
microRNA 204 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
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NCBI chr 9:70,809,975...70,810,084
Ensembl chr 9:70,809,975...70,810,084
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G |
MIR205 |
microRNA 205 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr 1:209,432,133...209,432,242
Ensembl chr 1:209,432,133...209,432,242
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G |
MIR2116 |
microRNA 2116 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr15:59,171,183...59,171,262
Ensembl chr15:59,171,183...59,171,262
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G |
MIR214 |
microRNA 214 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr 1:172,138,798...172,138,907
Ensembl chr 1:172,138,798...172,138,907
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G |
MIR215 |
microRNA 215 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr 1:220,117,853...220,117,962
Ensembl chr 1:220,117,853...220,117,962
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G |
MIR221 |
microRNA 221 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr X:45,746,157...45,746,266
Ensembl chr X:45,746,157...45,746,266
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G |
MIR222 |
microRNA 222 |
|
EXP ISO |
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:45,747,015...45,747,124
Ensembl chr X:45,747,015...45,747,124
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|
G |
MIR223 |
microRNA 223 |
severity |
IEP ISO |
RNA:increased expression:pancreatic islet |
RGD |
PMID:31118273 PMID:31118273 |
RGD:25823139, RGD:25823139 |
NCBI chr X:66,018,870...66,018,979
Ensembl chr X:66,018,870...66,018,979
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G |
MIR27A |
microRNA 27a |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr19:13,836,440...13,836,517
Ensembl chr19:13,836,440...13,836,517
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G |
MIR29A |
microRNA 29a |
|
IEP |
RNA:increased expression:arteriole RNA:incrased expression:blood serum (human) |
RGD |
PMID:29374012 PMID:33116722 |
RGD:13702880, RGD:243048436 |
NCBI chr 7:130,876,747...130,876,810
Ensembl chr 7:130,876,747...130,876,810
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G |
MIR29B1 |
microRNA 29b-1 |
|
IEP |
RNA:increased expression:arteriole RNA:increased expression:blood serum (human) |
RGD |
PMID:29374012 PMID:33116722 |
RGD:13702880, RGD:243048436 |
NCBI chr 7:130,877,459...130,877,539
Ensembl chr 7:130,877,459...130,877,539
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G |
MIR30A |
microRNA 30a |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr 6:71,403,551...71,403,621
Ensembl chr 6:71,403,551...71,403,621
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G |
MIR3173 |
microRNA 3173 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr14:95,137,919...95,137,986
Ensembl chr14:95,137,919...95,137,986
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G |
MIR335 |
microRNA 335 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr 7:130,496,111...130,496,204
Ensembl chr 7:130,496,111...130,496,204
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G |
MIR339 |
microRNA 339 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr 7:1,022,933...1,023,026
Ensembl chr 7:1,022,933...1,023,026
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G |
MIR33B |
microRNA 33b |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr17:17,813,836...17,813,931
Ensembl chr17:17,813,836...17,813,931
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G |
MIR375 |
microRNA 375 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr 2:219,001,645...219,001,708
Ensembl chr 2:219,001,645...219,001,708
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G |
MIR377 |
microRNA 377 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr14:101,062,050...101,062,118
Ensembl chr14:101,062,050...101,062,118
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G |
MIR409 |
microRNA 409 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr14:101,065,300...101,065,378
Ensembl chr14:101,065,300...101,065,378
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G |
MIR423 |
microRNA 423 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
|
NCBI chr17:30,117,079...30,117,172
Ensembl chr17:30,117,079...30,117,172
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G |
MIR432 |
microRNA 432 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr14:100,884,483...100,884,576
Ensembl chr14:100,884,483...100,884,576
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G |
MIR4482 |
microRNA 4482 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr10:104,268,336...104,268,405
Ensembl chr10:104,268,336...104,268,405
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G |
MIR4516 |
microRNA 4516 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr16:2,133,119...2,133,204
Ensembl chr16:2,133,119...2,133,204
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G |
MIR483 |
microRNA 483 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr11:2,134,134...2,134,209
Ensembl chr11:2,134,134...2,134,209
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G |
MIR485 |
microRNA 485 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr14:101,055,419...101,055,491
Ensembl chr14:101,055,419...101,055,491
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G |
MIR487B |
microRNA 487b |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr14:101,046,455...101,046,538
Ensembl chr14:101,046,455...101,046,538
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G |
MIR532 |
microRNA 532 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478399 |
|
NCBI chr X:50,003,148...50,003,238
Ensembl chr X:50,003,148...50,003,238
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G |
MIR628 |
microRNA 628 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr15:55,372,940...55,373,034
Ensembl chr15:55,372,940...55,373,034
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G |
MIR6741 |
microRNA 6741 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr 1:225,922,080...225,922,142
Ensembl chr 1:225,922,080...225,922,142
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G |
MIR6803 |
microRNA 6803 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr19:55,245,186...55,245,250
Ensembl chr19:55,245,186...55,245,250
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G |
MIR744 |
microRNA 744 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr17:12,081,899...12,081,996
Ensembl chr17:12,081,899...12,081,996
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G |
MIR7704 |
microRNA 7704 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr 2:176,188,843...176,188,901
Ensembl chr 2:176,188,843...176,188,901
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G |
MIR8061 |
microRNA 8061 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr19:54,645,309...54,645,383
Ensembl chr19:54,645,309...54,645,383
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G |
MIR885 |
microRNA 885 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr 3:10,394,489...10,394,562
Ensembl chr 3:10,394,489...10,394,562
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G |
MIR92B |
microRNA 92b |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr 1:155,195,177...155,195,272
Ensembl chr 1:155,195,177...155,195,272
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G |
MIR939 |
microRNA 939 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr 8:144,394,149...144,394,230
Ensembl chr 8:144,394,149...144,394,230
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G |
MIR98 |
microRNA 98 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr X:53,556,223...53,556,341
Ensembl chr X:53,556,223...53,556,341
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G |
MIRLET7D |
microRNA let-7d |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28545106 |
|
NCBI chr 9:94,178,834...94,178,920
Ensembl chr 9:94,178,834...94,178,920
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G |
MKI67 |
marker of proliferation Ki-67 |
|
ISO |
protein:increased expression:hippocampus |
RGD |
PMID:20045412 |
RGD:2317709 |
NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
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G |
MLXIPL |
MLX interacting protein like |
|
ISO |
protein:increased expression:liver (rat) |
RGD |
PMID:30029691 |
RGD:401799626 |
NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
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G |
MMP1 |
matrix metallopeptidase 1 |
|
IEP ISO |
protein:decreased expression:renal glomerulus (human) protein:increased expression:nucleus pulposus |
RGD |
PMID:19506087 PMID:19951028 |
RGD:2312464, RGD:7207379 |
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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G |
MMP2 |
matrix metallopeptidase 2 |
|
IEP |
protein:increased expression:plasma (human) |
RGD |
PMID:17320450 |
RGD:7207195 |
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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G |
MMP3 |
matrix metallopeptidase 3 |
treatment |
ISO |
|
RGD |
PMID:23204894 |
RGD:8694120 |
NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
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G |
MMP9 |
matrix metallopeptidase 9 |
treatment |
IEP ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:17320450 PMID:18552985 PMID:23204894 |
RGD:7207195, RGD:8547849, RGD:8694120 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
MPST |
mercaptopyruvate sulfurtransferase |
|
ISO |
|
RGD |
PMID:20127051 |
RGD:5134362 |
NCBI chr22:37,019,742...37,029,815
Ensembl chr22:37,019,635...37,029,821
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G |
MRAS |
muscle RAS oncogene homolog |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534
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G |
MRPS12 |
mitochondrial ribosomal protein S12 |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:38,930,944...38,933,168
Ensembl chr19:38,930,944...38,933,168
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G |
MT-CO2 |
mitochondrially encoded cytochrome c oxidase II |
|
ISO |
mRNA:decreased expression:soleus |
RGD |
PMID:14563825 |
RGD:2300410 |
NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269
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G |
MT-CYB |
mitochondrially encoded cytochrome b |
|
ISO |
mRNA:decreased expression:pancreatic islet |
RGD |
PMID:7588317 |
RGD:2298962 |
NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887
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G |
MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
IAGP ISO |
DNA:SNP: :3394T>C (human) DNA:polymorphism: :3316G>A, 3394T>C (human) mRNA, protein:decreased expression:soleus, mitochondrion |
RGD |
PMID:18679013 PMID:15265369 PMID:14563825 |
RGD:2311583, RGD:2311592, RGD:2300410 |
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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G |
MT-TL1 |
mitochondrially encoded tRNA-Leu (UUA/G) 1 |
|
IAGP |
ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, maternally transmitted |
ClinVar |
PMID:7804130 PMID:8254046 PMID:9506761 PMID:31965079 PMID:32906214 |
|
NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
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G |
MT2A |
metallothionein 2A |
|
IAGP |
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 chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
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G |
MTHFR |
methylenetetrahydrofolate reductase |
susceptibility no_association |
IAGP |
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 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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G |
MTNR1A |
melatonin receptor 1A |
|
ISO |
mRNA:increased expression:pancreas |
RGD |
PMID:16441550 |
RGD:2301037 |
NCBI chr 4:186,533,655...186,555,567
Ensembl chr 4:186,526,792...186,555,567
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G |
MTNR1B |
melatonin receptor 1B |
susceptibility |
IEP EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to |
CTD OMIM ClinVar RGD |
PMID:19060907 PMID:19060908 PMID:19060909 PMID:22286214 PMID:26551672 PMID:19060908 More...
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RGD:9588652 |
NCBI chr11:92,969,651...92,984,960
Ensembl chr11:92,969,651...92,985,066
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G |
MTOR |
mechanistic target of rapamycin kinase |
susceptibility |
IAGP ISO |
DNA:SNP: :rs7212142(human) mRNA,protein:increased expression:hippocampus |
RGD |
PMID:28536139 PMID:23165862 |
RGD:13506787, RGD:13506788 |
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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G |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
|
ISO |
|
RGD |
PMID:21818837 |
RGD:7207079 |
NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278
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G |
NAMPT |
nicotinamide phosphoribosyltransferase |
|
IEP |
protein:increased expression:serum protein:decreased expression:adipose tissue |
RGD |
PMID:18410550 PMID:16234302 |
RGD:2311099, RGD:2311119 |
NCBI chr 7:106,248,298...106,285,888
Ensembl chr 7:106,248,298...106,285,966
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G |
NCCRP1 |
NCCRP1, F-box associated domain containing |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,196,964...39,201,884
Ensembl chr19:39,196,964...39,201,884
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G |
NCOA6 |
nuclear receptor coactivator 6 |
|
ISO |
mRNA:decreased expression:pancreatic islet (rat) |
RGD |
PMID:16738321 |
RGD:9590126 |
NCBI chr20:34,714,774...34,825,651
Ensembl chr20:34,689,097...34,825,651
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G |
NEUROD1 |
neuronal differentiation 1 |
no_association onset |
IAGP EXP |
DNA:missense mutation: :p.E110K (human DNA:missense mutation: :p.S159P (human) DNA:missense mutation, nonsense mutation (human) associated with Obesity;DNA:missense mutation: :p.H241Q (human) DNA:polymorphism: :p.A45T (human) ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: NEUROD1-related condition |
ClinVar CTD OMIM RGD |
PMID:10545951 PMID:16123366 PMID:25741868 PMID:28492532 PMID:28664602 PMID:34556497 PMID:11719843 PMID:17440689 PMID:10545951 PMID:18331410 PMID:15592940 PMID:16773428 More...
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RGD:2313488, RGD:2313480, RGD:2313489, RGD:2313478, RGD:2313486, RGD:2313482 |
NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827
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G |
NEUROG3 |
neurogenin 3 |
|
IAGP |
|
RGD |
PMID:17146417 |
RGD:2313775 |
NCBI chr10:69,571,485...69,573,422
Ensembl chr10:69,571,698...69,573,422
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G |
NFATC2 |
nuclear factor of activated T cells 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
|
NCBI chr20:51,386,963...51,562,839
Ensembl chr20:51,386,957...51,562,831
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G |
NFE2L1 |
NFE2 like bZIP transcription factor 1 |
|
ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
|
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NCBI chr17:48,048,359...48,061,545
Ensembl chr17:48,048,329...48,061,545
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|
G |
NFE2L2 |
NFE2 like bZIP transcription factor 2 |
treatment |
ISO |
|
RGD |
PMID:23954466 |
RGD:10412692 |
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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G |
NFKB1 |
nuclear factor kappa B subunit 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17107852 |
|
NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302
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G |
NFKBIB |
NFKB inhibitor beta |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:38,899,666...38,908,889
Ensembl chr19:38,899,700...38,908,893
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G |
NKX6-1 |
NK6 homeobox 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
|
NCBI chr 4:84,491,985...84,499,292
Ensembl chr 4:84,491,985...84,499,292
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G |
NOG |
noggin |
|
ISO |
mRNA, protein:increased expression:aorta |
RGD |
PMID:21193740 |
RGD:10430114 |
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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G |
NOS1 |
nitric oxide synthase 1 |
|
ISO |
|
RGD |
PMID:16323284 |
RGD:1581689 |
NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
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G |
NOS2 |
nitric oxide synthase 2 |
susceptibility |
IAGP ISO EXP |
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 chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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G |
NOS3 |
nitric oxide synthase 3 |
|
ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12716763 PMID:16959961 PMID:18356581 |
RGD:2292097 |
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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G |
NOTCH2 |
notch receptor 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18372903 |
|
NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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G |
NPPA |
natriuretic peptide A |
|
ISO |
|
RGD |
PMID:19675071 |
RGD:2313586 |
NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
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G |
NPPB |
natriuretic peptide B |
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ISO IEP |
protein:increased expression:plasma protein:increased expression:serum |
RGD |
PMID:18192848 PMID:22037102 |
RGD:2293330, RGD:5685645 |
NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
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G |
NPY |
neuropeptide Y |
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IAGP |
DNA:missense mutation:cds:p.L7P (human) |
RGD |
PMID:15926114 |
RGD:1580183 |
NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
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G |
NR0B2 |
nuclear receptor subfamily 0 group B member 2 |
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IAGP |
DNA:polymorphisms: :multiple |
RGD |
PMID:18781616 |
RGD:2311604 |
NCBI chr 1:26,911,489...26,913,975
Ensembl chr 1:26,911,489...26,913,975
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G |
NR1D1 |
nuclear receptor subfamily 1 group D member 1 |
treatment |
ISO |
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RGD |
PMID:23637135 |
RGD:10448992 |
NCBI chr17:40,092,793...40,100,589
Ensembl chr17:40,092,793...40,100,589
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G |
NR1H2 |
nuclear receptor subfamily 1 group H member 2 |
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IAGP |
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RGD |
PMID:20939869 |
RGD:13506790 |
NCBI chr19:50,376,457...50,383,388
Ensembl chr19:50,329,653...50,383,388
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G |
NR1H3 |
nuclear receptor subfamily 1 group H member 3 |
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IEP |
mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:28871240 |
RGD:401850555 |
NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033
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G |
NR3C1 |
nuclear receptor subfamily 3 group C member 1 |
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ISO |
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RGD |
PMID:17292727 |
RGD:4892117 |
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
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G |
NUCB2 |
nucleobindin 2 |
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IEP ISO |
mRNA:decreased expression:islet of Langerhans: protein:decreased expression:pancreas: |
RGD |
PMID:22108805 PMID:20032201 |
RGD:9831161, RGD:9831177 |
NCBI chr11:17,276,739...17,349,980
Ensembl chr11:17,208,153...17,349,980
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G |
NUS1 |
NUS1 dehydrodolichyl diphosphate synthase subunit |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 PMID:33812996 |
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NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727
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G |
OGG1 |
8-oxoguanine DNA glycosylase |
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IEP EXP |
protein:increased expression:pancreatic islet, mitochondrion CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22652274 PMID:12003641 |
RGD:2317133 |
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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G |
OXCT1 |
3-oxoacid CoA-transferase 1 |
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ISO |
mRNA, protein:decreased expression, decreased activity:pancreatic islets (rat) |
RGD |
PMID:20460097 |
RGD:2326185 |
NCBI chr 5:41,730,065...41,870,425
Ensembl chr 5:41,730,065...41,870,425
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G |
P2RY12 |
purinergic receptor P2Y12 |
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IMP |
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RGD |
PMID:15483100 |
RGD:6480536 |
NCBI chr 3:151,336,843...151,384,753
Ensembl chr 3:151,336,843...151,384,753
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G |
PAF1 |
PAF1 homolog, Paf1/RNA polymerase II complex component |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,385,629...39,391,106
Ensembl chr19:39,385,629...39,391,154
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G |
PAK4 |
p21 (RAC1) activated kinase 4 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,125,786...39,182,816
Ensembl chr19:39,125,770...39,182,816
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G |
PAM |
peptidylglycine alpha-amidating monooxygenase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24464100 PMID:30054598 |
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NCBI chr 5:102,754,783...103,031,105
Ensembl chr 5:102,753,981...103,029,730
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G |
PAPPA |
pappalysin 1 |
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IEP |
protein:decreased expression:serum |
RGD |
PMID:17728480 |
RGD:2313776 |
NCBI chr 9:116,153,791...116,402,321
Ensembl chr 9:116,153,791...116,402,321
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G |
PARL |
presenilin associated rhomboid like |
onset |
IAGP IEP |
DNA:missense mutation:cds:p.L262V (human) mRNA:decreased expression:vastus lateralis (human) |
RGD |
PMID:19185381 PMID:20444421 |
RGD:12880445, RGD:12902628 |
NCBI chr 3:183,826,489...183,884,880
Ensembl chr 3:183,829,271...183,884,933
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G |
PARP1 |
poly(ADP-ribose) polymerase 1 |
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IEP |
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RGD |
PMID:15895395 |
RGD:11075068 |
NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
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G |
PAX4 |
paired box 4 |
onset |
IAGP EXP |
DNA:mutation: :p.R121W (human) DNA:polymorphism, mutations: :p.R192H, p.R164W, IVS7-1G>A (human) ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type II diabetes mellitus |
ClinVar CTD 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:12604352 PMID:17426099 More...
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RGD:2311635, RGD:2311632 |
NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142
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G |
PAX6 |
paired box 6 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
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NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
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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 chr11:66,848,420...66,958,383
Ensembl chr11:66,848,417...66,958,386
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G |
PCK1 |
phosphoenolpyruvate carboxykinase 1 |
no_association |
ISO IAGP |
DNA:SNPs (human) DNA:polymorphism:232C>G DNA:polymorphism:promoter:C>G |
RGD |
PMID:17242918 PMID:18443203 PMID:19070910 PMID:16978381 PMID:16620271 |
RGD:2311643, RGD:2311640, RGD:2311639, RGD:1601239, RGD:1601241 |
NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121
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G |
PCSK1 |
proprotein convertase subtilisin/kexin type 1 |
no_association |
IAGP ISO |
DNA:missense mutations:cds:p.R53Q, p.Q638E (human) protein:increased expression:pancreatic alpha cell (mouse) protein:decreased expression:pancreatic islet (mouse) protein:altered expression:pancreatic islet (rat) |
RGD |
PMID:8666140 PMID:17630003 PMID:18941442 PMID:18448419 PMID:12475375 |
RGD:2308935, RGD:2308898, RGD:2308930, RGD:2308932, RGD:2298715 |
NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
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G |
PCSK2 |
proprotein convertase subtilisin/kexin type 2 |
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IAGP EXP |
DNA:repeats:intron:IVS2CA (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16123366 PMID:7698505 |
RGD:2308936 |
NCBI chr20:17,226,107...17,484,578
Ensembl chr20:17,226,107...17,484,578
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PDCD1 |
programmed cell death 1 |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:23219834 |
RGD:7248672 |
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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G |
PDX1 |
pancreatic and duodenal homeobox 1 |
no_association |
ISO IAGP IEP EXP |
protein:decreased expression:pancreas (rat) DNA:insertion, polymorphism:cds:InsCCG243, Q59L, D76N (human) mRNA:increased expression:pancreatic islet (human) protein:increased expression:pancreatic duct (mouse) DNA:polymorphism:cds:D76N (human) DNA:deletion:exon 2 (mouse) ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar CTD OMIM RGD |
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:17764693 PMID:10545531 PMID:19371350 PMID:15734849 PMID:9075799 PMID:15170499 PMID:9637677 More...
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RGD:2311219, RGD:2311307, RGD:2311305, RGD:2311306, RGD:2311221, RGD:2311308, RGD:2311217 |
NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313
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G |
PECAM1 |
platelet and endothelial cell adhesion molecule 1 |
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ISO |
protein:increased expression:bone marrow stem cell (mouse) |
RGD |
PMID:21984919 |
RGD:6771358 |
NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
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G |
PEPD |
peptidase D |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22158537 |
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NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823
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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 chr11:72,239,077...72,244,176
Ensembl chr11:72,239,077...72,245,664
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G |
PIK3C2A |
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha |
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IEP |
mRNA:decreased expression:Islets of Langerhans |
RGD |
PMID:21127054 |
RGD:7243008 |
NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986
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G |
PIK3C2G |
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma |
susceptibility |
IAGP |
DNA:SNP:cds:437C>T(human) |
RGD |
PMID:17991425 |
RGD:13506796 |
NCBI chr12:18,242,961...18,726,817
Ensembl chr12:18,242,961...18,648,416
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G |
PIK3CB |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta |
treatment |
IEP |
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RGD |
PMID:11812753 |
RGD:13506799 |
NCBI chr 3:138,652,698...138,834,928
Ensembl chr 3:138,652,698...138,834,928
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G |
PIK3CG |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31626838 |
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NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
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G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
susceptibility |
ISO IAGP |
protein:increased phosphorylation:retina (rat) DNA:polymorphism: : |
RGD |
PMID:18443201 PMID:14551916 |
RGD:4108490, RGD:11067972 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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G |
PKLR |
pyruvate kinase L/R |
susceptibility no_association |
IAGP |
DNA:SNPs:introns,exons: DNA:SNP: :rs3020781(human) |
RGD |
PMID:12196482 PMID:19111066 |
RGD:13506801, RGD:13506802 |
NCBI chr 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438
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G |
PLA2G7 |
phospholipase A2 group VII |
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IDA |
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RGD |
PMID:22399516 |
RGD:6482782 |
NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693
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G |
PLAT |
plasminogen activator, tissue type |
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ISO IDA IEP |
mRNA:decreased expression:kidney associated with Obesity protein:decreased expression:plasma (rat) |
RGD |
PMID:14693179 PMID:15901895 PMID:16724515 PMID:18235054 PMID:16038272 PMID:10899350 More...
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RGD:2311675, RGD:2311673, RGD:2311670, RGD:2311665, RGD:2311672, RGD:1598920 |
NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
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G |
PLAUR |
plasminogen activator, urokinase receptor |
onset |
IEP |
protein:increased expression:plasma |
RGD |
PMID:22050462 |
RGD:6483792 |
NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547
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G |
PLD3 |
phospholipase D family member 3 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:40,348,695...40,378,485
Ensembl chr19:40,348,456...40,389,472
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G |
PLEKHA1 |
pleckstrin homology domain containing A1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr10:122,374,708...122,442,600
Ensembl chr10:122,374,696...122,432,354
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G |
PLEKHG2 |
pleckstrin homology and RhoGEF domain containing G2 |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,412,669...39,428,415
Ensembl chr19:39,412,669...39,428,415
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G |
PLN |
phospholamban |
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ISO |
mRNA:decreased expression:heart left ventricle |
RGD |
PMID:22621761 |
RGD:7327183 |
NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
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G |
PNPLA3 |
patatin like phospholipase domain containing 3 |
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IAGP |
DNA:SNP: :rs738409 (p.I148M) (human) |
RGD |
PMID:31377187 |
RGD:14981594 |
NCBI chr22:43,923,805...43,947,582
Ensembl chr22:43,923,792...43,964,488
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G |
POMC |
proopiomelanocortin |
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ISO |
associated with alcohol use disorder |
RGD |
PMID:33057655 |
RGD:407431647 |
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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G |
PON1 |
paraoxonase 1 |
severity no_association |
IAGP IEP |
DNA:polymorphism: :p.Q192R (human) protein:increased expression:serum protein:decreased expression:serum associated with Diabetic Retinopathy;DNA:missense mutations:cds:p.L55M, p.Q192R (human) |
RGD |
PMID:18290860 PMID:19328014 PMID:17949258 PMID:10677395 PMID:9591753 |
RGD:2313269, RGD:2307252, RGD:2313270, RGD:8547560, RGD:8547663 |
NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
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G |
PON2 |
paraoxonase 2 |
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IAGP |
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 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329
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G |
PPARA |
peroxisome proliferator activated receptor alpha |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17317762 PMID:31626838 |
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NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
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G |
PPARD |
peroxisome proliferator activated receptor delta |
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IAGP ISS |
DNA:SNPs OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO RGD |
PMID:16804087 |
RGD:1625186 |
NCBI chr 6:35,342,558...35,428,178
Ensembl chr 6:35,342,558...35,428,191
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G |
PPARG |
peroxisome proliferator activated receptor gamma |
susceptibility no_association |
IMP ISO IAGP EXP |
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: 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:10690291 PMID:10851250 PMID:14569127 PMID:14616762 PMID:14671186 PMID:15592662 PMID:16123366 PMID:16249460 PMID:17317762 PMID:21484566 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 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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G |
PPARGC1A |
PPARG coactivator 1 alpha |
treatment susceptibility no_association |
IAGP ISO IEP EXP |
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 chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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G |
PPARGC1B |
PPARG coactivator 1 beta |
no_association |
IAGP |
DNA:polymorphism:exon:102605C>A |
RGD |
PMID:16759305 |
RGD:1642500 |
NCBI chr 5:149,730,310...149,857,959
Ensembl chr 5:149,730,298...149,855,022
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G |
PPP1R3A |
protein phosphatase 1 regulatory subunit 3A |
no_association onset |
IMP IAGP EXP ISS |
DNA:missense mutation:cds:p.D905Y (human) DNA:missense mutation::p.D905Y (human) DNA:missense mutations, polymorphisms:CDS, 3' UTR:p.R883S, p.D905Y (human) DNA:missense mutation: :p.D905Y (human) DNA:insertion/deletion ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar Annotator: match by term: Insulin resistance, severe, digenic 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:10389856 PMID:9726244 PMID:9653600 PMID:19553562 PMID:12831406 PMID:10868947 More...
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RGD:2311560, RGD:2311532, RGD:2311531, RGD:2311515, RGD:2311405, RGD:2311596, RGD:2311552 |
NCBI chr 7:113,876,777...113,919,009
Ensembl chr 7:113,876,777...114,075,920
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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 chr10:91,628,442...91,633,071
Ensembl chr10:91,628,442...91,633,071
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G |
PPP2CA |
protein phosphatase 2 catalytic subunit alpha |
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ISO |
mRNA:increased expression:liver, quadriceps, epididymal fat pad (rat) |
RGD |
PMID:22087313 |
RGD:8693665 |
NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,194,035...134,226,073
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G |
PRKAA1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
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ISO |
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RGD |
PMID:20054491 |
RGD:2316808 |
NCBI chr 5:40,759,389...40,798,374
Ensembl chr 5:40,759,389...40,798,374
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|
G |
PRKAA2 |
protein kinase AMP-activated catalytic subunit alpha 2 |
susceptibility |
IAGP |
DNA:SNPs |
RGD |
PMID:16567511 |
RGD:1625266 |
NCBI chr 1:56,645,314...56,715,335
Ensembl chr 1:56,645,314...56,715,335
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|
G |
PRKCB |
protein kinase C beta |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15531508 |
|
NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611
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|
G |
PRKCE |
protein kinase C epsilon |
|
ISO |
mRNA,protein:decreased expression:liver: |
RGD |
PMID:26398746 |
RGD:13506804 |
NCBI chr 2:45,651,279...46,187,990
Ensembl chr 2:45,651,345...46,187,990
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|
G |
PRKCI |
protein kinase C iota |
|
ISS |
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
MouseDO |
|
|
NCBI chr 3:170,222,424...170,305,977
Ensembl chr 3:170,222,424...170,305,977
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|
G |
PRKCZ |
protein kinase C zeta |
|
ISO |
mRNA,protein:decreased expression:liver,pancreas: |
RGD |
PMID:26398746 |
RGD:13506804 |
NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
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|
G |
PRKN |
parkin RBR E3 ubiquitin protein ligase |
|
ISO |
protein:decreased expression:cerebral cortex (rat) |
RGD |
PMID:28573460 |
RGD:13432564 |
NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
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|
G |
PROX1 |
prospero homeobox 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20081858 |
|
NCBI chr 1:213,983,151...214,041,510
Ensembl chr 1:213,983,181...214,041,510
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|
G |
PRX |
periaxin |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793
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|
G |
PSMC4 |
proteasome 26S subunit, ATPase 4 |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,971,165...39,981,764
Ensembl chr19:39,971,165...39,981,764
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|
G |
PSMD6 |
proteasome 26S subunit, non-ATPase 6 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22158537 |
|
NCBI chr 3:64,010,551...64,024,007
Ensembl chr 3:64,010,550...64,024,010
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|
G |
PTF1A |
pancreas associated transcription factor 1a |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
|
|
NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245
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G |
PTGDS |
prostaglandin D2 synthase |
|
ISO |
protein:increased expression:urine |
RGD |
PMID:16384826 |
RGD:1642580 |
NCBI chr 9:136,977,504...136,981,742
Ensembl chr 9:136,975,092...136,981,742
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G |
PTGIS |
prostaglandin I2 synthase |
|
IEP |
protein:decreased expression:hypodermis (human) |
RGD |
PMID:24225501 |
RGD:401901153 |
NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
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G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
|
RGD |
PMID:18706904 |
RGD:2300222 |
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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|
G |
PTH |
parathyroid hormone |
|
IAGP |
DNA:snp:exon:g.350C>A rs6256 (human) |
RGD |
PMID:22777106 |
RGD:7242744 |
NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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|
G |
PTPN1 |
protein tyrosine phosphatase non-receptor type 1 |
susceptibility no_association |
IAGP EXP |
CTD Direct Evidence: marker/mechanism DNA:missense mutation:CDS:p.P387L (human) |
OMIM CTD RGD |
PMID:15715684 PMID:11756316 |
RGD:401965404, RGD:401965405 |
NCBI chr20:50,510,383...50,585,241
Ensembl chr20:50,510,321...50,585,241
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|
G |
PTPRD |
protein tyrosine phosphatase receptor type D |
susceptibility |
IAGP |
associated with Environmental Illness; DNA:SNP:intron: (rs16927668) (Human) |
RGD |
PMID:27281273 |
RGD:401850598 |
NCBI chr 9:8,314,246...10,613,002
Ensembl chr 9:8,314,246...10,613,002
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G |
RARRES2 |
retinoic acid receptor responder 2 |
|
ISO |
protein:increased expression:multiple: |
RGD |
PMID:30873215 |
RGD:15036825 |
NCBI chr 7:150,338,329...150,341,629
Ensembl chr 7:150,338,317...150,341,662
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G |
RBFOX2 |
RNA binding fox-1 homolog 2 |
|
IEP |
mRNA:splice variant: heart (human) |
RGD |
PMID:27239029 |
RGD:329845874 |
NCBI chr22:35,738,736...36,028,824
Ensembl chr22:35,738,736...36,028,824
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G |
RBP4 |
retinol binding protein 4 |
susceptibility disease_progression severity |
IAGP IEP |
DNA:polymorphism protein:increased expression:serum 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:17174134 PMID:19506831 PMID:24647386 PMID:21645024 PMID:20058618 PMID:20436266 PMID:17875187 PMID:18496666 PMID:18973209 More...
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RGD:1601615, RGD:2311651, RGD:329845577, RGD:329845584, RGD:329845844, RGD:329845851, RGD:329845855, RGD:329845878, RGD:329849119 |
NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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G |
RBPJ |
recombination signal binding protein for immunoglobulin kappa J region |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:29924900 |
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NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131
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G |
RBPJL |
recombination signal binding protein for immunoglobulin kappa J region like |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
|
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NCBI chr20:45,306,840...45,317,824
Ensembl chr20:45,306,840...45,317,824
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G |
REG3A |
regenerating family member 3 alpha |
|
ISO |
mRNA:increased expression:islet of Langerhans (rat) |
RGD |
PMID:24587207 |
RGD:9831427 |
NCBI chr 2:79,157,006...79,159,753
Ensembl chr 2:79,157,003...79,159,753
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G |
RETN |
resistin |
no_association susceptibility |
IEP IAGP EXP |
protein:increased expression:serum DNA:polymorphism: :299G>A (human) DNA:SNP:promoter:-420G>C (rs1862513) (human) DNA:SNPs:promoter:-394C>G, -420G>C (rs1862513) (human) DNA:SNP:3' utr:*62A>G (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:19269054 PMID:19177195 PMID:19738363 PMID:19381781 PMID:12629116 PMID:15523596 More...
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RGD:2313497, RGD:2313498, RGD:2313494, RGD:2313495, RGD:1624968, RGD:7207163 |
NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
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G |
RINL |
Ras and Rab interactor like |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,867,830...38,878,275
Ensembl chr19:38,867,830...38,878,275
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G |
RNF6 |
ring finger protein 6 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
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NCBI chr13:26,132,115...26,223,085
Ensembl chr13:26,132,115...26,222,314
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G |
RPS16 |
ribosomal protein S16 |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,433,137...39,435,949
Ensembl chr19:39,433,137...39,435,949
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G |
RRAD |
RRAD, Ras related glycolysis inhibitor and calcium channel regulator |
|
IAGP |
associated with Obesity;DNA:polymorphism:intron:4681C>T (human) DNA:repeat:intron (human) |
RGD |
PMID:15161552 PMID:10024077 |
RGD:2311704, RGD:2311705 |
NCBI chr16:66,921,685...66,925,535
Ensembl chr16:66,921,685...66,925,535
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G |
S100A6 |
S100 calcium binding protein A6 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123366 |
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NCBI chr 1:153,534,599...153,535,991
Ensembl chr 1:153,534,599...153,536,244
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G |
SAMD4B |
sterile alpha motif domain containing 4B |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,342,421...39,390,764
Ensembl chr19:39,342,421...39,385,710
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G |
SARS2 |
seryl-tRNA synthetase 2, mitochondrial |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:38,915,266...38,930,763
Ensembl chr19:38,915,266...38,930,763
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G |
SCN1B |
sodium voltage-gated channel beta subunit 1 |
|
ISO |
mRNA:increased expression:heart ventricle |
RGD |
PMID:22581745 |
RGD:6484255 |
NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
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G |
SCTR |
secretin receptor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
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NCBI chr 2:119,439,843...119,524,483
Ensembl chr 2:119,439,843...119,525,301
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G |
SDC2 |
syndecan 2 |
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IEP |
protein:increased expression:kidney |
RGD |
PMID:14976204 |
RGD:2311706 |
NCBI chr 8:96,493,813...96,611,790
Ensembl chr 8:96,493,813...96,611,790
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G |
SDC4 |
syndecan 4 |
|
ISO IAGP |
mRNA:increased expression:kidney ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar RGD |
PMID:14633120 |
RGD:2311707 |
NCBI chr20:45,325,288...45,348,424
Ensembl chr20:45,325,288...45,348,424
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G |
SDF2L1 |
stromal cell derived factor 2 like 1 |
susceptibility |
ISO |
DNA:deletion:exons, introns:g.3_910del (rat) |
RGD |
PMID:27463508 |
RGD:11528530 |
NCBI chr22:21,642,302...21,644,299
Ensembl chr22:21,642,302...21,644,299
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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 |
|
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NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
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G |
SELENOV |
selenoprotein V |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,515,113...39,520,686
Ensembl chr19:39,515,139...39,520,675
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G |
SELL |
selectin L |
no_association |
IAGP |
|
RGD |
PMID:22119815 |
RGD:7175303 |
NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702
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G |
SELP |
selectin P |
|
IEP |
protein:increased expression:plasma |
RGD |
PMID:17598012 |
RGD:2312303 |
NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
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G |
SERPINA12 |
serpin family A member 12 |
treatment |
ISO |
|
RGD |
PMID:16030142 |
RGD:1547845 |
NCBI chr14:94,487,279...94,517,844
Ensembl chr14:94,487,274...94,517,844
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G |
SERPINC1 |
serpin family C member 1 |
|
IEP |
protein:increased activity:plasma (human) |
RGD |
PMID:7974333 |
RGD:2312416 |
NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
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|
G |
SERPINE1 |
serpin family E member 1 |
no_association treatment |
IAGP ISO IEP |
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 chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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G |
SERPINF1 |
serpin family F member 1 |
treatment severity |
IEP ISO IDA |
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 chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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G |
SFRP4 |
secreted frizzled related protein 4 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23140642 |
|
NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695
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G |
SGCG |
sarcoglycan gamma |
susceptibility |
IAGP |
DNA:SNP: : rs9552911(human) |
RGD |
PMID:28123479 |
RGD:13605620 |
NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
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G |
SHBG |
sex hormone binding globulin |
susceptibility |
IAGP EXP |
DNA, protein:SNPs, decreased expression:rs6257, rs6259, plasma (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21982312 PMID:19657112 |
RGD:2313782 |
NCBI chr17:7,614,064...7,633,372
Ensembl chr17:7,613,946...7,633,382
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G |
SIRT1 |
sirtuin 1 |
treatment |
ISO EXP |
associated with Obesity CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23834033 PMID:18046409 PMID:19549853 |
RGD:9585769, RGD:9585997 |
NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
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G |
SIRT2 |
sirtuin 2 |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
|
NCBI chr19:38,878,555...38,899,618
Ensembl chr19:38,878,555...38,899,862
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G |
SIRT3 |
sirtuin 3 |
|
IEP |
mRNA:decreased expression:pancreatic islet |
RGD |
PMID:23397292 |
RGD:9586042 |
NCBI chr11:215,030...236,931
Ensembl chr11:215,030...236,931
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G |
SLC1A2 |
solute carrier family 1 member 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30718926 |
|
NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063
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G |
SLC22A3 |
solute carrier family 22 member 3 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr 6:160,348,378...160,452,577
Ensembl chr 6:160,348,378...160,452,577
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G |
SLC2A1 |
solute carrier family 2 member 1 |
no_association |
IAGP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9589670 PMID:18613291 PMID:9789717 PMID:7516306 |
RGD:2312306, RGD:2312290, RGD:2312289 |
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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G |
SLC2A2 |
solute carrier family 2 member 2 |
susceptibility |
IAGP EXP 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 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743
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G |
SLC2A3 |
solute carrier family 2 member 3 |
|
IEP |
protein:decreased expression:granulocyte, lymphocyte, monocyte |
RGD |
PMID:19110659 |
RGD:2313602 |
NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007
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G |
SLC2A4 |
solute carrier family 2 member 4 |
|
ISO IAGP EXP ISS |
DNA:point mutation:exon:p.V383I (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 CTD MouseDO RGD |
PMID:1397719 PMID:1918382 PMID:7814014 PMID:11947963 PMID:17107852 PMID:22384078 PMID:31626838 PMID:18653321 PMID:1918382 More...
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RGD:2313625, RGD:1625188 |
NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257
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|
G |
SLC30A8 |
solute carrier family 30 member 8 |
susceptibility |
IAGP EXP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus CTD Direct Evidence: marker/mechanism|therapeutic ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to |
ClinVar CTD OMIM |
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 8:116,950,217...117,176,714
Ensembl chr 8:116,950,273...117,176,714
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G |
SLC9A1 |
solute carrier family 9 member A1 |
|
ISO |
mRNA, protein:decreased expression:heart |
RGD |
PMID:22009485 |
RGD:6771327 |
NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
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G |
SLPI |
secretory leukocyte peptidase inhibitor |
|
IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
|
|
NCBI chr20:45,252,239...45,254,564
Ensembl chr20:45,252,239...45,254,564
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|
G |
SMAD4 |
SMAD family member 4 |
treatment |
ISO |
|
RGD |
PMID:25017203 |
RGD:12880049 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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|
G |
SMAD5 |
SMAD family member 5 |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20079400 |
|
NCBI chr 5:136,132,845...136,182,733
Ensembl chr 5:136,132,845...136,188,747
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|
G |
SMC1A |
structural maintenance of chromosomes 1A |
|
ISO |
mRNA:increased expression:testis: |
RGD |
PMID:33775663 |
RGD:155631260 |
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
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G |
SMIM43 |
small integral membrane protein 43 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28869590 |
|
NCBI chr 4:121,758,930...121,765,433
Ensembl chr 4:121,758,881...121,765,427
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|
G |
SNAP25 |
synaptosome associated protein 25 |
|
EXP ISS |
CTD Direct Evidence: marker/mechanism OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 |
CTD MouseDO |
PMID:16123366 |
|
NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258
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|
G |
SOAT1 |
sterol O-acyltransferase 1 |
|
ISO |
mRNA:increased expression:peritoneal macrophage (mouse) |
RGD |
PMID:26606676 |
RGD:126925207 |
NCBI chr 1:179,293,797...179,358,680
Ensembl chr 1:179,293,714...179,358,680
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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 chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
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G |
SOD1 |
superoxide dismutase 1 |
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IEP IAGP ISO EXP |
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 chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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G |
SOD2 |
superoxide dismutase 2 |
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IAGP EXP |
DNA:polymorphism: :p.A16V (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15531508 PMID:18423055 |
RGD:2312364 |
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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G |
SOD3 |
superoxide dismutase 3 |
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IDA |
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RGD |
PMID:15990193 |
RGD:1581225 |
NCBI chr 4:24,795,573...24,800,842
Ensembl chr 4:24,789,912...24,800,842
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G |
SORBS1 |
sorbin and SH3 domain containing 1 |
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IAGP |
DNA:SNP: :p.T228A (human) |
RGD |
PMID:11532984 |
RGD:1642744 |
NCBI chr10:95,311,773...95,561,371
Ensembl chr10:95,311,771...95,561,414
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G |
SPHK1 |
sphingosine kinase 1 |
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IMP |
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RGD |
PMID:17265031 |
RGD:2311390 |
NCBI chr17:76,383,204...76,387,855
Ensembl chr17:76,376,584...76,387,860
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G |
SRC |
SRC proto-oncogene, non-receptor tyrosine kinase |
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ISO IDA |
protein:increased tyrosine phosphorylation:platelets |
RGD |
PMID:19230846 PMID:15542065 |
RGD:2307340, RGD:1601373 |
NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050
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G |
SRD5A1 |
steroid 5 alpha-reductase 1 |
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ISO |
mRNA:increased expression:adrenal gland (rat) |
RGD |
PMID:17884440 |
RGD:4891894 |
NCBI chr 5:6,633,440...6,674,386
Ensembl chr 5:6,633,290...6,676,539
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G |
SREBF1 |
sterol regulatory element binding transcription factor 1 |
susceptibility |
IAGP ISO |
DNA:SNPs mRNA:increased expression:liver |
RGD |
PMID:18692268 PMID:19357831 |
RGD:2308809, RGD:2308802 |
NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
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G |
SREBF2 |
sterol regulatory element binding transcription factor 2 |
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IDA |
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RGD |
PMID:15644403 |
RGD:1581419 |
NCBI chr22:41,833,105...41,907,305
Ensembl chr22:41,833,105...41,907,306
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G |
ST6GAL1 |
ST6 beta-galactoside alpha-2,6-sialyltransferase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21874001 |
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NCBI chr 3:186,930,526...187,078,553
Ensembl chr 3:186,930,325...187,078,553
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G |
STAR |
steroidogenic acute regulatory protein |
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ISO |
mRNA:decreased expression:testis, Leydig cell (rat) |
RGD |
PMID:18481435 |
RGD:4889107 |
NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992
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G |
STAT3 |
signal transducer and activator of transcription 3 |
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IDA |
protein:increased tyrosine phosphorylation:skeletal muscle |
RGD |
PMID:23043161 |
RGD:8694321 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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G |
SUPT5H |
SPT5 homolog, DSIF elongation factor subunit |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,445,582...39,476,670
Ensembl chr19:39,436,156...39,476,670
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G |
SYCN |
syncollin |
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IAGP |
ClinVar Annotator: match by term: Type 2 diabetes mellitus |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,202,825...39,204,263
Ensembl chr19:39,202,825...39,204,263
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G |
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