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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:type 2 diabetes mellitus
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Accession:DOID:9352 term browser browse the term
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;   MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO;   UCP3 polymorphism G/A;   diabetes mellitus type 2, protection against;   noninsulin-dependent diabetes mellitus, association with
 primary_id: MESH:D003924
 alt_id: OMIM:125853
 xref: ICD10CM:E11;   NCI:C26747
For additional species annotation, visit the Alliance of Genome Resources.



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type 2 diabetes mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aanat aralkylamine N-acetyltransferase IDA mRNA, protein:increased expression, decreased activity:pineal gland RGD PMID:16441550 RGD:2301037 NCBI chr10:101,827,072...101,831,805
Ensembl chr10:101,827,301...101,831,801
JBrowse link
G Abca1 ATP binding cassette subfamily A member 1 onset ISO DNA:SNP:exon:p.R230C (rs9282541) (human) RGD PMID:18003760 RGD:2312576 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A ISO DNA:polymorphism:exon (human) RGD PMID:19470683 RGD:2312331 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 IEP
ISO
mRNA: decreased expression: liver
mRNA:decreased expression:liver
protein: increased expression
RGD PMID:15319330 PMID:25152023 PMID:18189363 RGD:2312736, RGD:14700811, RGD:2312726 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Abcc8 ATP binding cassette subfamily C member 8 susceptibility ISO DNA:missense mutations: :p.R248Q, p.K1521N, p.Y356C (human)
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:125853
DNA:polymorphism: :p.S1369A (human)
DNA:polymorphism:intron:IVS16-3T>C (human)
DNA:polymorphism:exon:
DNA:missense mutation::A1369S (human)
ClinVar
CTD
OMIM
RGD
PMID:9519757 PMID:9568693 PMID:9867219 PMID:10204114 PMID:10685980 More... RGD:2301901, RGD:2301898, RGD:2301897, RGD:737749, RGD:2313628, RGD:1598640 NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 IEP mRNA:decreased expression:liver RGD PMID:25152023 RGD:14700811 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO ClinVar Annotator: match by term: Diabetes mellitus type 2 ClinVar PMID:18523805 PMID:25741868 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898
JBrowse link
G Ace angiotensin I converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) GAD
RGD
PMID:15118671 PMID:24452036 RGD:1331525, RGD:8142353 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Acot2 acyl-CoA thioesterase 2 IDA RGD PMID:16979414 RGD:1625728 NCBI chr 6:103,611,744...103,619,404
Ensembl chr 6:103,611,544...103,619,245
JBrowse link
G Acp1 acid phosphatase 1 ISO RGD PMID:15281007 RGD:2313183 NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021
JBrowse link
G Ada adenosine deaminase ISO protein:increased expression:serum RGD PMID:15168879 RGD:2313539 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Adam17 ADAM metallopeptidase domain 17 ISO protein:increased activity:artery smooth muscle
protein:increased activity:skeletal muscle tissue
RGD PMID:19581416 PMID:19633828 RGD:2313250, RGD:2312470 NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
JBrowse link
G Adamts9 ADAM metallopeptidase with thrombospondin type 1 motif, 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18372903 PMID:23967108 NCBI chr 4:125,290,633...125,462,988
Ensembl chr 4:125,291,490...125,462,929
JBrowse link
G Adcy5 adenylate cyclase 5 ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20081858 PMID:23202124 PMID:12607610 RGD:13464136 NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO
IEP
CTD Direct Evidence: marker/mechanism
DNA:SNP: :g.45T>G (human)
associated with myocardial infarction;protein:decreased expression: :
protein:decreased expression:plasma
protein:decreased expression:plasma, myocardium:
CTD
RGD
PMID:12114044 PMID:12354786 PMID:15734870 PMID:19622782 PMID:28843383 More... RGD:2313238, RGD:14975146, RGD:8694412, RGD:5686807, RGD:5686752, RGD:5686359, RGD:2313230 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adipor2 adiponectin receptor 2 no_association ISO RGD PMID:18075289 PMID:18363889 PMID:18548168 PMID:19631916 RGD:2312490, RGD:2312486, RGD:2312480, RGD:2312476 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
JBrowse link
G Adm adrenomedullin ISO protein:increased expression:plasma RGD PMID:17557032 RGD:2313313 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
JBrowse link
G Adra2a adrenoceptor alpha 2A susceptibility IEP
ISO
mRNA, protein:increased expression:pancreatic islet
DNA:SNP:3' utr:rs553668 (human)
RGD PMID:19965390 PMID:19965390 RGD:2316628, RGD:2316628 NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
JBrowse link
G Adra2b adrenoceptor alpha 2B onset ISO DNA:polymorphism (human) RGD PMID:17039423 PMID:17277585 RGD:2313544, RGD:2313543 NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355
JBrowse link
G Adrb2 adrenoceptor beta 2 no_association ISO DNA:polymorphisms: :p.R16G, p.Q27E RGD
GAD
PMID:17221209 PMID:15118671 RGD:1601119, RGD:1331525 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Adrb3 adrenoceptor beta 3 onset
susceptibility
no_association
ISO 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 chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
JBrowse link
G Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO RGD PMID:20068140 RGD:13838849 NCBI chr 7:62,897,282...62,914,295
Ensembl chr 7:62,897,282...62,914,295
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment
no_association
ISO
IEP
IDA
DNA:SNP: :557G>A (rs2070600, p.G82S) (human)
DNA:SNP: :1704G>T, 2184A>G (human)
DNA:SNP: :2245A>G (human)
DNA:polymorphisms, deletion:promoter, :-374T>A, -429T>C (human)
DNA:SNPs:promoter:-374T>A, -429T/C (human)
protein:increased expression:jejunum, intestinal villi (rat)
RGD PMID:23630304 PMID:21067572 PMID:11884895 PMID:11884895 PMID:15896660 More... RGD:7243184, RGD:8548676, RGD:8695991, RGD:8695991, RGD:8695969, RGD:8695962, RGD:7244262, RGD:7244245 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Agrp agouti related neuropeptide IEP
ISO
mRNA:decreased expression:hypothalamus
DNA:polymorphism:promoter:-38C>T (human)
RGD PMID:18001323 PMID:11554767 RGD:2311538, RGD:2314000 NCBI chr19:33,447,992...33,523,068
Ensembl chr19:33,447,992...33,449,584
JBrowse link
G Agt angiotensinogen no_association ISO mRNA, protein:increased expression:smooth muscle cell, carotid artery
DNA:polymorphism: :p.T174M, p.M235T (human)
RGD PMID:17170378 PMID:9258285 RGD:1601138, RGD:8548863 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr2 angiotensin II receptor, type 2 IEP mRNA, protein:increased expression:aorta RGD PMID:18463192 RGD:2313550 NCBI chr  X:112,119,673...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Ahi1 Abelson helper integration site 1 ISO mRNA:increased expression:vastus lateralis RGD PMID:20045148 RGD:11537398 NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Ahsg alpha-2-HS-glycoprotein susceptibility ISO DNA:polymorphism: :-469T>G (rs2077119) (human) RGD PMID:18316360 PMID:18633113 RGD:2313812, RGD:2313811 NCBI chr11:78,117,903...78,145,956 JBrowse link
G Ak1 adenylate kinase 1 IEP protein:increased expression:gastrocnemius muscle (rat) RGD PMID:20127051 RGD:5134362 NCBI chr 3:15,912,431...15,923,045 JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B susceptibility ISO DNA:repeat, snp:promoter:g.(AC)n, g.-106C>T (human) RGD PMID:15569136 RGD:8548678 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
JBrowse link
G Akt1 AKT serine/threonine kinase 1 treatment ISO
IEP
IDA
CTD Direct Evidence: marker/mechanism
protein:increased serine phosphorylation:vascular associated smooth muscle cell
CTD
RGD
PMID:31626838 PMID:19289493 PMID:24735788 PMID:19052261 RGD:2311130, RGD:39128151, RGD:2313556 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO DNA:missense mutation:cds:p.R274H (human)
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Diabetes mellitus type 2
ClinVar Annotator: match by OMIM:125853
protein:decreased activity, phosphorylation:vastus lateralis (human)
ClinVar
OMIM
RGD
PMID:15166380 PMID:17327441 PMID:19164855 PMID:25741868 PMID:28166811 More... RGD:2313408, RGD:734545, RGD:2311130, RGD:2307342, RGD:2313405 NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO RGD PMID:15563966 RGD:2311149 NCBI chr12:34,949,549...34,982,527 JBrowse link
G Aldob aldolase, fructose-bisphosphate B IDA
IEP
ISO
mRNA:decreased expression:soleus (rat)
DNA:SNP:intron: (human)
RGD PMID:19106228 PMID:19106228 PMID:12646233 RGD:2313414, RGD:2313414, RGD:2313434 NCBI chr 5:63,889,045...63,902,086
Ensembl chr 5:63,889,046...63,902,116
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein no_association ISO DNA:SNPs: :rs1320374, rs1881245, rs3820700 (human) RGD PMID:16601972 RGD:8696017 NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO protein:decreased activity:platelet (human) RGD PMID:9500559 RGD:2313877 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:plasma RGD PMID:15823283 RGD:2313815 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Angptl3 angiopoietin-like 3 ISO protein:increased expression:liver RGD PMID:15094378 RGD:2314234 NCBI chr 5:113,703,007...113,710,044
Ensembl chr 5:113,703,012...113,709,957
JBrowse link
G Ankrd23 ankyrin repeat domain 23 IEP RNA:altered expression:heart, brown adipose tissue, skeletal muscle tissue RGD PMID:12456686 RGD:2314859 NCBI chr 9:38,773,234...38,779,839
Ensembl chr 9:38,773,240...38,779,839
JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO
IDA
protein:increased expression:serum RGD PMID:14656718 PMID:19336232 PMID:12663473 RGD:2313822, RGD:2313820, RGD:2313823 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Ap3s2 adaptor related protein complex 3 subunit sigma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21874001 NCBI chr 1:133,818,825...133,859,269
Ensembl chr 1:133,818,825...133,859,322
JBrowse link
G Apln apelin ISO protein:decreased expression:plasma RGD PMID:18484561 RGD:2313944 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391
JBrowse link
G Aplnr apelin receptor ISO protein:decreased expression:renal artery RGD PMID:17692936 RGD:2313945 NCBI chr 3:70,217,407...70,221,052
Ensembl chr 3:70,217,385...70,221,050
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:altered localization:plasma lipoprotein particle
protein:increased expression, increased glycation:plasma
RGD PMID:9649952 PMID:18079481 RGD:2313961, RGD:7241576 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoa2 apolipoprotein A2 ISO protein:altered localization:plasma lipoprotein particle
protein:decreased expression:serum
RGD PMID:9649952 PMID:19817643 RGD:2313961, RGD:2313955 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
JBrowse link
G Apoa5 apolipoprotein A5 no_association ISO DNA:polymorphism: :c.553G>T (human)
DNA:polymorphism: :-1131T>C (human)
RGD PMID:17087641 PMID:16039297 PMID:17548321 RGD:2313319, RGD:2313321, RGD:2313318 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
JBrowse link
G Apob apolipoprotein B treatment ISO RGD PMID:18945923 PMID:15161783 RGD:2313981, RGD:11354945 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Apoc1 apolipoprotein C1 ISO protein:decreased expression:plasma RGD PMID:3757210 RGD:2313953 NCBI chr 1:79,347,057...79,350,340
Ensembl chr 1:79,346,136...79,350,375
JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:increased expression:plasma RGD PMID:3757210 PMID:12733353 RGD:2313953, RGD:2313966 NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
JBrowse link
G Apod apolipoprotein D ISO DNA:polymorphism RGD PMID:15369805 PMID:7895459 RGD:2311177, RGD:2311178 NCBI chr11:69,431,261...69,452,306
Ensembl chr11:69,431,260...69,452,305
JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:pancreatic islet RGD
GAD
PMID:18950899 PMID:15118671 RGD:2317556, RGD:1331525 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:16126948 RGD:2313984 NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
JBrowse link
G Apom apolipoprotein M susceptibility ISO DNA:SNP:promoter:g.-778T>C(rs805296)(human) RGD PMID:16572495 RGD:2314248 NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550
JBrowse link
G Aqp7 aquaporin 7 ISO protein:increased expression:skeletal muscle: RGD PMID:29783856 RGD:13782361 NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642
JBrowse link
G Ar androgen receptor ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO mRNA:decreased expression:pancreatic islet RGD PMID:16096055 RGD:2313995 NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
JBrowse link
G Arntl2 aryl hydrocarbon receptor nuclear translocator-like 2 ISO DNA:SNPs: :rs7950226, rs11022775(human) RGD PMID:17728404 RGD:2314371 NCBI chr 4:179,699,432...179,747,710
Ensembl chr 4:179,699,502...179,746,949
JBrowse link
G Arrb2 arrestin, beta 2 treatment IEP RGD PMID:24337852 RGD:13506901 NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
JBrowse link
G Arx aristaless related homeobox IEP RGD PMID:16772326 RGD:1599258 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
G Asip agouti signaling protein ISO mRNA:increased expression:adipose tissue
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:8146154 PMID:14633851 RGD:2313999 NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
JBrowse link
G Asl argininosuccinate lyase ISO mRNA:increased expression:leukocyte RGD PMID:16121806 RGD:2314010 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
JBrowse link
G Atf3 activating transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr13:102,751,278...102,800,520
Ensembl chr13:102,751,321...102,764,631
JBrowse link
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 IEP RGD PMID:22009485 RGD:6771327 NCBI chr 1:181,026,606...181,044,859 JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IEP
IDA
ISO
mRNA:decreased expression:heart left ventricle
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16123366 PMID:21216827 PMID:27222135 PMID:22009485 RGD:6892953, RGD:13782085, RGD:6771327 NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
JBrowse link
G Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr10:57,581,742...57,612,758
Ensembl chr10:57,582,128...57,612,748
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta IEP protein:decreased expression:islet of Langerhans (rat) RGD PMID:21117707 RGD:13792619 NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926
G Avp arginine vasopressin IEP protein:increased expression:hypothalamus RGD PMID:17940875 RGD:2301922 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
JBrowse link
G Axl Axl receptor tyrosine kinase ISO RGD PMID:10528229 RGD:2325834 NCBI chr 1:81,265,656...81,296,278
Ensembl chr 1:81,265,088...81,296,265
JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:serum RGD PMID:15127324 RGD:2311236 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Bace2 beta-secretase 2 treatment ISO RGD PMID:28337562 RGD:13782177 NCBI chr11:36,707,473...36,789,550
Ensembl chr11:36,707,458...36,789,546
JBrowse link
G Bad BCL2-associated agonist of cell death IEP RGD PMID:23032698 RGD:10053698 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:31626838 PMID:22543177 RGD:10054139 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bche butyrylcholinesterase susceptibility ISO DNA:polymorphism: :p.A539T (human) RGD
GAD
PMID:11793025 PMID:16442234 PMID:15118671 RGD:2306782, RGD:2306780, RGD:1331525 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16959961 PMID:31626838 PMID:23032698 RGD:10053698 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16959961 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link
G Bcl2l11 BCL2 like 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 3:115,366,783...115,404,068
Ensembl chr 3:115,366,646...115,404,068
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:decreased expression:plasma RGD PMID:17151862 RGD:10059350 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Becn1 beclin 1 treatment IEP RGD PMID:21820301 RGD:11561956 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum: RGD PMID:15747054 RGD:7207410 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23665415 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin no_association IAGP RGD PMID:12584444 RGD:1600600 NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Btc betacellulin susceptibility ISO DNA:polymorphism:promoter:-226A/G (human)
DNA:polymorphism:exon:p.C7G (human)
RGD PMID:16306376 PMID:15793259 RGD:2306967, RGD:2306973 NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
JBrowse link
G C2cd4a C2 calcium-dependent domain containing 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20818381 NCBI chr 8:68,467,017...68,470,033
Ensembl chr 8:68,466,664...68,470,031
JBrowse link
G C2cd4b C2 calcium-dependent domain containing 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20818381 NCBI chr 8:68,372,793...68,396,477
Ensembl chr 8:68,384,847...68,396,328
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20504758 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D susceptibility ISO DNA:SNPs: :rs9841978,rs312486(human)
mRNA:decreased expression:pancreatic islet:
RGD PMID:23229155 PMID:23229155 RGD:13506727, RGD:13506727 NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
JBrowse link
G Cadm2 cell adhesion molecule 2 ISO DNA:SNP: :rs13078807 (human) RGD PMID:28401323 RGD:15092076 NCBI chr11:4,548,367...5,525,420
Ensembl chr11:4,555,159...5,525,400
JBrowse link
G Calca calcitonin-related polypeptide alpha IEP
ISO
protein:decreased expression:dorsal root ganglion, neuron RGD PMID:17151309 PMID:19816194 RGD:2314035, RGD:2314032 NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
JBrowse link
G Calm1 calmodulin 1 IEP mRNA:decreased expression:heart RGD PMID:21216827 RGD:6892953 NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227
JBrowse link
G Capn10 calpain 10 ISO
IAGP
IEP
mRNA:increased expression:pancreas
ClinVar Annotator: match by term: Type 2 diabetes
ClinVar Annotator: match by term: Diabetes mellitus type 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST
DNA:SNP:intron:rs2975760 (human)
associated with Hypertension;DNA:SNPs:intron:rs3792267, rs2975760 (human)
DNA:polymorphism
mRNA:decreased expression
ClinVar
CTD
RGD
PMID:11017071 PMID:11481585 PMID:12107250 PMID:12161543 PMID:14574648 More... RGD:4107074, RGD:7247735, RGD:7247734, RGD:7247733, RGD:1625049, RGD:737693, RGD:1625063 NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
JBrowse link
G Cartpt CART prepropeptide IEP protein:increased expression:pancreatic B cell RGD PMID:16443761 RGD:2313632 NCBI chr 2:31,255,098...31,257,452
Ensembl chr 2:31,255,098...31,290,713
JBrowse link
G Casp12 caspase 12 IEP RGD PMID:23032698 RGD:10053698 NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
JBrowse link
G Casp3 caspase 3 ISO protein:increased activity:pancreatic B cell
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15531508 PMID:19100955 RGD:2311446 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp7 caspase 7 IEP RGD PMID:23032698 RGD:10053698 NCBI chr 1:255,437,195...255,476,737
Ensembl chr 1:255,437,172...255,476,729
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15531508 PMID:17563067 RGD:2311429 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Casp9 caspase 9 ISO DNA:SNP (human) RGD PMID:16038259 RGD:2311246 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
JBrowse link
G Casq1 calsequestrin 1 no_association ISO DNA:snp: :rs617698(human)
DNA:snp: :rs2275703(human)
DNA:snps: :multiple
RGD PMID:18269685 PMID:17681849 PMID:15561962 PMID:15561963 RGD:2314133, RGD:2314134, RGD:2314136, RGD:2314135 NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339
JBrowse link
G Cat catalase ISO protein:decreased activity:plasma:
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:15111504 PMID:15531508 PMID:12357295 RGD:9068922 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cbs cystathionine beta synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23665415 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
JBrowse link
G Ccdc92 coiled-coil domain containing 92 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr12:31,796,102...31,823,333
Ensembl chr12:31,796,684...31,823,337
JBrowse link
G Cckar cholecystokinin A receptor IAGP DNA:deletion RGD PMID:16815799 RGD:1625200 NCBI chr14:57,292,397...57,300,747
Ensembl chr14:57,292,397...57,300,747
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IEP protein:increased expression:urine RGD PMID:18388116 PMID:25899686 RGD:2301862, RGD:14995493 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased expression:serum RGD PMID:17966842 RGD:2307064 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccn2 cellular communication network factor 2 IEP mRNA, protein:increased expression:left ventricle (rat) RGD PMID:19902320 RGD:2314357 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24464100 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:monocyte RGD PMID:16631114 RGD:2313561 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 treatment ISO
IEP
protein:increased expression:monocyte RGD PMID:17966842 PMID:23063706 RGD:2307064, RGD:8552229 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd36 CD36 molecule severity ISO
IEP
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
protein:increased expression:platelet
protein:increased expression:heart
DNA:nonsense mutation: :p.L360X
DNA:SNP:promoter
protein:increased expression:aorta
CTD
RGD
PMID:31626838 PMID:16952981 PMID:12479587 PMID:20134099 PMID:7544802 More... RGD:2307212, RGD:11040908, RGD:6893499, RGD:2307219, RGD:2307218, RGD:2307213, RGD:2307211 NCBI chr 4:17,317,343...17,410,084 JBrowse link
G Cd38 CD38 molecule ISO
IEP
DNA:missense mutation: :p.R140W (human)
mRNA:decreased expression:pancreatic islet
RGD PMID:12242463 PMID:9754820 PMID:7669044 RGD:2307232, RGD:2307233, RGD:2307234 NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum
associated with non-alcoholic steatohepatitis;mRNA:increased expression:visceral abdominal adipose tissue
RGD PMID:16423632 PMID:19280268 RGD:2314214, RGD:5688143 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cdk4 cyclin-dependent kinase 4 no_association ISO DNA:polymorphism:intron:IVS4-40G>A (human) RGD PMID:18678431 PMID:19695727 RGD:2314611, RGD:2314610 NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
JBrowse link
G Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:125853
DNA:snp: :rs7754840(human)
DNA:snps: :multiple
CTD
ClinVar
RGD
PMID:17460697 PMID:17463246 PMID:17463248 PMID:17463249 PMID:23104008 More... RGD:2313941, RGD:2313947, RGD:2313949 NCBI chr17:34,718,680...34,769,614
Ensembl chr17:34,718,687...35,407,524
JBrowse link
G Cdo1 cysteine dioxygenase type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23665415 NCBI chr18:39,432,473...39,447,253
Ensembl chr18:39,432,474...39,447,296
JBrowse link
G Cel carboxyl ester lipase ISO DNA:deletion:exon RGD PMID:16369531 RGD:2313964 NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:plasma (human) RGD PMID:21143859 RGD:4892628 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
JBrowse link
G Cisd2 CDGSH iron sulfur domain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946
JBrowse link
G Clps colipase susceptibility ISO DNA:polymorphism:exon:p.R109C (human) RGD PMID:16189801 RGD:2314627 NCBI chr20:6,620,529...6,622,709
Ensembl chr20:6,620,529...6,622,689
JBrowse link
G Cmip c-Maf-inducing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr19:45,304,597...45,510,653
Ensembl chr19:45,304,031...45,508,709
JBrowse link
G Cnksr2 connector enhancer of kinase suppressor of Ras 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr  X:36,908,135...37,148,337
Ensembl chr  X:36,907,850...37,150,555
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO RGD PMID:18678611 RGD:2314632 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
JBrowse link
G Col3a1 collagen type III alpha 1 chain IEP RGD PMID:20836762 RGD:7257556 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Cp ceruloplasmin ISO protein:increased expression:serum RGD PMID:19834873 RGD:2314681 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Cpb2 carboxypeptidase B2 ISO protein:increased expression, increased activity:plasma RGD PMID:11836301 RGD:2313645 NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
JBrowse link
G Cpe carboxypeptidase E onset
no_association
ISO RGD PMID:11462236 PMID:9662053 RGD:1626183, RGD:1626184 NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16123366 PMID:19553925 RGD:2311344 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 IEP mRNA:decreased expression:hypothalamus (rat) RGD PMID:20472052 RGD:5507823 NCBI chr10:89,040,203...89,083,481
Ensembl chr10:89,040,203...89,083,481
JBrowse link
G Crp C-reactive protein ISO RGD PMID:16764962 RGD:9491772 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 treatment IMP RGD PMID:23595987 PMID:19706791 RGD:9685169, RGD:9685172 NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763
JBrowse link
G Cst3 cystatin C ISO protein:increased expression:serum (human) RGD PMID:19887833 RGD:2314295 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
JBrowse link
G Ctf1 cardiotrophin 1 ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
JBrowse link
G Ctsb cathepsin B ISO mRNA:decreased expression:pancreatic islet (human) RGD PMID:19367387 RGD:2315527 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Ctsl cathepsin L susceptibility ISO mRNA:increased expression:gastrocnemius muscle (mouse)
protein:increased expression:right auricular appendage (human)
RGD PMID:12941783 PMID:19074676 RGD:2315625, RGD:2315622 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:19187771 RGD:2311356 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO protein:increased expression:plasma RGD PMID:18451752 RGD:2306553 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
JBrowse link
G Cyb5r4 cytochrome b5 reductase 4 ISO
ISS
DNA:deletion:intron:IVSV+7TC (human)
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
MouseDO
RGD
PMID:15504981 RGD:2315647 NCBI chr 8:87,975,596...88,048,356
Ensembl chr 8:87,981,116...88,045,832
JBrowse link
G Cyba cytochrome b-245 alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:15531508 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 IEP mRNA:decreased expression:testis, Leydig cell (rat) RGD PMID:18481435 RGD:4889107 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO DNA:polymorphism:promoter:-344C>T (human) RGD PMID:18771471 RGD:2307288 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO DNA:polymorphism:promoter:-344C>T (human) RGD PMID:18771471 RGD:2307288 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:polymorphism:3' UTR:5639T>C (human) RGD PMID:11996959 RGD:2307073 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22244987 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 treatment IEP RGD PMID:32742601 RGD:124713564 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO
IEP
mRNA:increased expression:leukocyte
mRNA:decreased expression:liver
mRNA, protein:decreased expression:liver
RGD PMID:12534643 PMID:10049703 PMID:10679205 RGD:2313686, RGD:2313688, RGD:2313687 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22244987 NCBI chr12:9,207,986...9,230,038
Ensembl chr12:9,015,383...9,285,008
JBrowse link
G Cyp3a23-3a1 cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22244987 NCBI chr12:9,256,159...9,285,020
Ensembl chr12:9,254,475...9,285,030
JBrowse link
G Dag1 dystroglycan 1 IEP protein:decreased expression:skeletal muscle RGD PMID:16323284 RGD:1581689 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
G Dcn decorin ISO protein:increased expression:plasma RGD PMID:18414424 RGD:2311410 NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270
JBrowse link
G Dcx doublecortin IEP protein:decreased expression:dentate gyrus RGD PMID:18982449 RGD:12904763 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
G Defb1 defensin beta 1 IEP RGD PMID:14521940 RGD:4892271 NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
JBrowse link
G Dgkd diacylglycerol kinase, delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345
JBrowse link
G Dio2 iodothyronine deiodinase 2 no_association ISO DNA:SNP: :rs225014, p.T92A (human) RGD PMID:17077128 RGD:1626439 NCBI chr 6:109,665,523...109,679,809
Ensembl chr 6:109,665,523...109,679,809
JBrowse link
G Dnm1l dynamin 1-like treatment IEP RGD PMID:21820301 RGD:11561956 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
JBrowse link
G Dnmt1 DNA methyltransferase 1 IEP mRNA:increased expression:liver: RGD PMID:21818837 RGD:7207079 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Dpp4 dipeptidylpeptidase 4 ISO RGD PMID:19705345 RGD:2313700 NCBI chr 3:46,962,243...47,043,870
Ensembl chr 3:46,962,243...47,043,901
JBrowse link
G Drd2 dopamine receptor D2 ISO DNA:polymorphism:exon:32806C>T (human) RGD PMID:18834717 RGD:2311601 NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16387788 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
JBrowse link
G Edn1 endothelin 1 ISO
IEP
mRNA:increased expression:blood vessel endothelial cell
CTD Direct Evidence: marker/mechanism
protein:increased expression:mesenteric artery
CTD
RGD
PMID:16387788 PMID:19581418 PMID:19286964 RGD:2313278, RGD:2313280 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Ednra endothelin receptor type A IEP
ISO
protein:increased expression:mesenteric artery
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16387788 PMID:19286964 RGD:2313280 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Ednrb endothelin receptor type B IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16387788 PMID:19286964 RGD:2313280 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22238402 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Eif3f eukaryotic translation initiation factor 3, subunit F IEP RGD PMID:12875716 RGD:10755506 NCBI chr 1:162,934,220...162,943,204
Ensembl chr 1:162,934,212...162,943,204
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO NIDDM,OMIM:125853;DNA:polymorphism
ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to
ClinVar
OMIM
RGD
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... RGD:1601042 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
JBrowse link
G Ep300 E1A binding protein p300 ISO protein:increased serine phosphorylation:renal glomerulus (mouse) RGD PMID:23737551 RGD:7257568 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Epas1 endothelial PAS domain protein 1 IEP RGD PMID:17914354 RGD:10395377 NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Epc2 enhancer of polycomb homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr 3:33,867,219...33,967,908
Ensembl chr 3:33,867,219...33,967,150
JBrowse link
G Epo erythropoietin ISO mRNA:increased expression:retina
protein:decreased expression:plasma
RGD PMID:16936148 PMID:16911620 RGD:2313840, RGD:2313842 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Esr1 estrogen receptor 1 ISO DNA:polymorphism
DNA:SNPs:introns: rs3020314, rs985694, rs1884051 (human)
RGD PMID:17097034 PMID:18854778 RGD:2314012, RGD:2314003 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Esrra estrogen related receptor, alpha no_association ISO RGD PMID:16755280 RGD:1625637 NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO protein:increased expression:nucleus
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:30718926 PMID:19225563 PMID:19225563 RGD:2313847, RGD:2313847 NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010
JBrowse link
G F12 coagulation factor XII ISO protein:increased activity:plasma (human) RGD PMID:7974333 RGD:2312416 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:plasma
associated with Myocardial Infarction
RGD PMID:17971179 PMID:18487475 RGD:2313852, RGD:2313851 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased activity:plasma RGD PMID:17785358 RGD:2312381 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G F7 coagulation factor VII susceptibility
no_association
ISO
IDA
protein:increased activity:plasma (human)
associated with Brain Infarction; protein:increased activity:plasma (human)
associated with Kidney Failure; protein:increased expression:plasma (human)
RGD PMID:10332679 PMID:11137328 PMID:14614217 PMID:11689270 PMID:17785358 More... RGD:2312388, RGD:2312386, RGD:2312394, RGD:2312382, RGD:2312381, RGD:2312380, RGD:2312383 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
G F8 coagulation factor VIII ISO protein:increased activity:plasma (human) RGD PMID:7974333 RGD:2312416 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
JBrowse link
G F9 coagulation factor IX ISO protein:increased activity:plasma (human) RGD PMID:7974333 RGD:2312416 NCBI chr  X:138,352,334...138,396,835
Ensembl chr  X:138,352,298...138,396,835
JBrowse link
G Fabp2 fatty acid binding protein 2 no_association ISO RGD PMID:16919542 RGD:1626401 NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089
JBrowse link
G Fabp3 fatty acid binding protein 3 susceptibility ISO DNA:deletion:3' utr:c.634+483delT (human) RGD PMID:12872269 RGD:1578461 NCBI chr 5:142,651,962...142,658,707
Ensembl chr 5:142,651,956...142,658,718
JBrowse link
G Fam234a family with sequence similarity 234, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr10:15,232,267...15,263,529
Ensembl chr10:15,232,278...15,263,488
JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand ISO DNA:repeats:3' utr (human) RGD PMID:16691186 RGD:2315750 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fbn1 fibrillin 1 IEP RGD PMID:20836762 RGD:7257556 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fem1b fem-1 homolog B ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr 8:63,265,301...63,278,577
Ensembl chr 8:63,265,301...63,278,577
JBrowse link
G Ffar1 free fatty acid receptor 1 ameliorates ISO RGD PMID:19401434 PMID:19758793 RGD:150517551, RGD:2315761 NCBI chr 1:86,111,368...86,112,272
Ensembl chr 1:86,111,368...86,112,272
JBrowse link
G Fga fibrinogen alpha chain ISO protein:increased activity:plasma (human) RGD PMID:7974333 RGD:2312416 NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
JBrowse link
G Fgb fibrinogen beta chain ISO protein:increased expression:plasma RGD PMID:7974333 RGD:2312416 NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:serum RGD PMID:18279437 RGD:2315844 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fgf21 fibroblast growth factor 21 treatment ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:26797127 PMID:21293445 RGD:10401914 NCBI chr 1:96,083,495...96,084,738
Ensembl chr 1:96,083,441...96,090,454
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:22174314 RGD:10401888 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgg fibrinogen gamma chain ISO protein:increased activity:plasma (human) RGD PMID:7974333 RGD:2312416 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO mRNA, protein:decreased expression:skeletal muscle RGD PMID:17823371 RGD:2313719 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Foxa2 forkhead box A2 no_association ISO DNA:missense mutation:p.A86T (human)
DNA:transversion, transitions:promoter, exon:multiple
DNA:SNP, repeat: :rs1055080 (human)
RGD PMID:11043867 PMID:10868949 PMID:18797817 RGD:2313245, RGD:2313246, RGD:2313242 NCBI chr 3:135,470,123...135,474,326
Ensembl chr 3:135,470,131...135,474,326
JBrowse link
G Foxc2 forkhead box C2 no_association ISO DNA:polymorphism:5'ut:-512C>T,-350G>T, 3'ut:1548C>T
DNA:insertion:1006insA
RGD PMID:12540636 PMID:15523639 RGD:1601220, RGD:1601217 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
JBrowse link
G Foxm1 forkhead box M1 ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr 4:161,639,561...161,652,012
Ensembl chr 4:161,638,816...161,650,684
JBrowse link
G Foxo1 forkhead box O1 treatment ISO protein:altered localization:nucleus, islet cell: RGD PMID:22417654 PMID:20736318 RGD:10044264, RGD:10044265 NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
JBrowse link
G Frzb frizzled-related protein ISO protein, decreased expression:skeletal muscle, serum (human) RGD PMID:28240822 RGD:32716394 NCBI chr 3:65,332,274...65,365,208
Ensembl chr 3:65,332,277...65,365,208
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104008 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO protein:increased activity:serum RGD PMID:16176171 RGD:2315931 NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
JBrowse link
G Fxn frataxin no_association ISO DNA:repeats:intron:GAA (human) RGD PMID:10102715 PMID:9588463 RGD:2307051, RGD:2307050 NCBI chr 1:221,874,007...221,897,841
Ensembl chr 1:221,872,420...221,897,540
JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO
IDA
protein:increased activity:liver RGD PMID:8865366 PMID:10866049 PMID:16396963 RGD:728661, RGD:2315966, RGD:2315959 NCBI chr10:86,307,400...86,318,766 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO protein:decreased expression:reticulocyte, erythrocyte RGD PMID:12853069 RGD:2307349 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gadd45gip1 GADD45G interacting protein 1 ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
JBrowse link
G Gal galanin and GMAP prepropeptide ISO protein:increased expression:blood RGD PMID:15735230 RGD:2313738 NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO protein:decreased acetylation RGD PMID:28258188 RGD:13792662 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:23466488 NCBI chr 3:47,113,914...47,122,929
Ensembl chr 3:47,113,914...47,122,929
JBrowse link
G Gcgr glucagon receptor ISO DNA:mutation:exon:G40S
ClinVar Annotator: match by term: Diabetes mellitus type 2
ClinVar
RGD
PMID:7773293 PMID:8563746 PMID:28492532 PMID:7773293 RGD:1625208 NCBI chr10:105,808,474...105,816,641
Ensembl chr10:105,808,473...105,816,640
JBrowse link
G Gck glucokinase no_association
treatment
ISO
IDA
DNA:polymorphisms:multiple:no association between multiple SSLP and SNP alleles and T2DM in a Japanese population (human)
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Diabetes mellitus type 2
ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late-onset
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms::significant association between alleles of two SSLPs and T2DM in a Japanese population (human)
protein:altered localization:hepatocyte:impaired translocation from nucleus to cytoplasm in Zucker diabetic fatty rats
MODY2, OMIM:125851;DNA:point mutation:E279X
DNA:microsatellite marker genotypes:3', 5':no association between genotypes of upstream or downstream microsatellite markers and T2DM in Welsh Caucasians (human)
ClinVar
CTD
OMIM
RGD
PMID:1360036 PMID:1397713 PMID:8094163 PMID:8094164 PMID:8349034 More... RGD:2301887, RGD:7488969, RGD:2301889, RGD:1582633, RGD:1601292, RGD:2301883 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
G Gckr glucokinase regulator ISO DNA:polymorphism: :rs780094 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP::rs1260326(human)
CTD
RGD
PMID:20081858 PMID:19241058 PMID:21411509 PMID:11473043 PMID:18556336 RGD:2315983, RGD:7242280, RGD:2315986, RGD:2315985 NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO CTD Direct Evidence: therapeutic CTD PMID:32715377 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO CTD Direct Evidence: therapeutic CTD PMID:32715377 NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO RGD PMID:17574229 RGD:2313352 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471
JBrowse link
G Gfpt2 glutamine-fructose-6-phosphate transaminase 2 susceptibility ISO DNA:missense mutation, SNPs:exon, 3' utr:multiple RGD PMID:14764791 RGD:2307362 NCBI chr10:34,115,005...34,161,329
Ensembl chr10:34,115,052...34,161,329
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO RGD PMID:19936701 RGD:2315593 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
JBrowse link
G Gh1 growth hormone 1 treatment IEP RGD PMID:26379831 RGD:11352744 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
JBrowse link
G Ghr growth hormone receptor ISO DNA:deletion:exon (human) RGD PMID:17537658 RGD:2307363 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide susceptibility ISO DNA:polymorphism: :p.L72M (human) RGD PMID:18848536 RGD:2313749 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
JBrowse link
G Gip gastric inhibitory polypeptide ISO
IDA
disease in rat treated with human protein RGD PMID:18937625 PMID:19056762 PMID:19473824 PMID:19126188 RGD:2312589, RGD:2312529, RGD:2312587, RGD:2312591 NCBI chr10:80,968,410...80,976,506
Ensembl chr10:80,968,352...80,976,503
JBrowse link
G Gipr gastric inhibitory polypeptide receptor ISO
IAGP
protein:decreased expression:pancreatic islet (human) RGD PMID:19386626 PMID:11334402 RGD:2312454, RGD:68929 NCBI chr 1:78,804,287...78,814,462
Ensembl chr 1:78,805,593...78,814,462
JBrowse link
G Gja1 gap junction protein, alpha 1 IEP protein:increased phosphorylation:kidney RGD PMID:21573906 RGD:7207393 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Glis3 GLIS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158537 NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
JBrowse link
G Glo1 glyoxalase 1 ISO DNA:point mutation: :c.332A>C (human) RGD PMID:18413187 RGD:7242567 NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649
JBrowse link
G Glp1r glucagon-like peptide 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr20:8,972,004...9,010,241
Ensembl chr20:8,972,004...9,010,241
JBrowse link
G Gnb3 G protein subunit beta 3 ISO DNA:polymorphism: :825C>T (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12511541 PMID:18656447 RGD:2313204 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
JBrowse link
G Gp2 glycoprotein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr 1:173,797,057...173,812,619
Ensembl chr 1:173,797,057...173,812,619
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:125853
OMIM
CTD
ClinVar
PMID:9070847 PMID:16123366 NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901
JBrowse link
G Gpt glutamic--pyruvic transaminase IEP protein:increased expression, activity:liver: RGD PMID:25865565 RGD:11342811 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 IEP protein:increased expression, activity:liver: RGD PMID:25865565 RGD:11342811 NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 PMID:23795780 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:decreased expression:plasma (human) RGD PMID:18936159 RGD:2312632 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
JBrowse link
G Grb14 growth factor receptor bound protein 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21874001 NCBI chr 3:49,568,210...49,683,805
Ensembl chr 3:49,568,210...49,683,889
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment ISO
IEP
RGD PMID:20821187 PMID:27164497 RGD:10045562, RGD:13792739 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
JBrowse link
G Gstm1 glutathione S-transferase mu 1 no_association
susceptibility
ISO CTD Direct Evidence: marker/mechanism
DNA:deletion: :
CTD
RGD
PMID:22652274 PMID:16413497 PMID:20739761 PMID:17979505 RGD:2306628, RGD:5490963, RGD:2306627 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:p.I105V (rs1695) (human) RGD PMID:20739761 RGD:5490963 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:17979505 RGD:2306627 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16632892 NCBI chr10:15,323,830...15,324,677 JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased activity:kidney: RGD PMID:19553350 RGD:9590229 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased activity:kidney: RGD PMID:19553350 RGD:9590229 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO DNA:missense mutation:cds:p.H63D (human)
associated with cystic fibrosis;DNA:missense mutation: :p.C282Y (human)
RGD PMID:20097100 PMID:30291871 RGD:8694381, RGD:14701045 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hhex hematopoietically expressed homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104008 NCBI chr 1:235,190,455...235,196,042
Ensembl chr 1:235,190,455...235,196,042
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha susceptibility IEP
ISO
protein:increased expression:heart blood vessel
associated with Breast Neoplasms;protein:increased expression:serum (human)
DNA:missense mutation:cds:p.P582S (human)
RGD PMID:12234789 PMID:17914354 PMID:23244125 PMID:16046581 RGD:625730, RGD:10395377, RGD:8695972, RGD:8695936 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hk1 hexokinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr20:30,230,488...30,332,161
Ensembl chr20:30,230,486...30,332,131
JBrowse link
G Hk2 hexokinase 2 ISO mRNA:decreased expression:epididymal fat pad, quadriceps RGD PMID:11319725 PMID:7813813 RGD:2313227, RGD:2313229 NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530
JBrowse link
G Hmg20a high mobility group 20A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21874001 NCBI chr 8:56,819,673...56,895,658
Ensembl chr 8:56,819,659...56,895,656
JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
PMID:23512162 NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO
IMP
DNA:polymorphism (human) RGD PMID:17870053 PMID:15312879 RGD:2313753, RGD:2313759 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO
IEP
DNA:repeat:promoter
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Obesity
CTD
RGD
PMID:12136229 PMID:16123366 PMID:16959961 PMID:17991645 PMID:23731386 RGD:10755699, RGD:8695927 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hnf1a HNF1 homeobox A susceptibility
onset
ISO DNA:deletions:exon:multiple
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Diabetes mellitus type 2
CTD Direct Evidence: marker/mechanism
DNA:SNP::rs1169288 associated with future risk of developing T2DM (p=0.0002) (human)
DNA:nonsense mutations, missense mutations: :multiple
Maturity-onset diabetes of the young type III, OMIM:600496;DNA:insertions, deletions, point mutations: :multiple
ClinVar
CTD
OMIM
RGD
PMID:18003757 PMID:20705777 PMID:24097065 PMID:24915262 PMID:25555642 More... RGD:2301828, RGD:2301863, RGD:2301827, RGD:1601479 NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
JBrowse link
G Hnf1b HNF1 homeobox B susceptibility
no_association
ISO renal cysts and diabetes syndrome, OMIM:137920;DNA:splice-site mutation:intron:IVS2+1G>A
ClinVar Annotator: match by term: Diabetes mellitus type 2
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:deletions:cds:multiple (human)
ClinVar
CTD
OMIM
RGD
PMID:12161522 PMID:17603485 PMID:20378641 PMID:25536396 PMID:25700310 More... RGD:1601484, RGD:2312750, RGD:2312748 NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha susceptibility ISO
IEP
DNA:SNPs:promoter:(human)
ClinVar Annotator: match by term: Diabetes mellitus type 2
mRNA:decreased expression:liver,pancreas
protein:decreased expression:liver:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:125853
DNA:SNP::rs4810424 and rs3212198 nominally associated with future risk of developing T2DM (p=0.04) (human)
DNA:missense mutation:exon:p.T130I
type I maturity-onset diabetes of the young, OMIM:125850
ClinVar
CTD
OMIM
RGD
PMID:9449683 PMID:10447526 PMID:15281001 PMID:17317762 PMID:18414213 More... RGD:2301836, RGD:12904770, RGD:12904769, RGD:2301863, RGD:2301839, RGD:1601637 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
JBrowse link
G Hp haptoglobin treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16506275 PMID:19996384 RGD:6483015 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Hpx hemopexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16506275 NCBI chr 1:159,932,819...159,940,327
Ensembl chr 1:159,932,755...159,940,328
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 IEP mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats RGD PMID:14697232 RGD:1625074 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO mRNA, protein:increased expression:skeletal muscle RGD PMID:17519316 RGD:2308922 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
JBrowse link
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 IEP mRNA:decreased expression:testis, Leydig cell (rat) RGD PMID:18481435 RGD:4889107 NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 IEP mRNA:decreased expression:testis, Leydig cell (rat) RGD PMID:18481435 RGD:4889107 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
JBrowse link
G Hsf1 heat shock transcription factor 1 ISO protein:increased expression:heart (mouse) RGD PMID:24496227 RGD:10402557 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO DNA:SNP:CDS:homozygous P2/P2 allele at position 1267 (p=0.001 for all diabetic p RGD PMID:15223990 RGD:1626646 NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 ISO protein:increased expression:serum (human) RGD PMID:22349026 RGD:6218966 NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr  X:110,640,777...110,870,288
Ensembl chr  X:110,641,153...110,870,287
JBrowse link
G Iapp islet amyloid polypeptide ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:pancreatic islet (human)
CTD
RGD
PMID:16123366 PMID:23793354 PMID:18641056 PMID:19100955 PMID:2441214 RGD:2313359, RGD:2311446, RGD:9686128 NCBI chr 4:175,237,013...175,244,373
Ensembl chr 4:175,237,115...175,242,920
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP
ISO
mRNA, protein:increased expression:aorta (rat)
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
CTD
RGD
PMID:24513509 PMID:20388520 PMID:18299691 RGD:4145422, RGD:2312766 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Id1 inhibitor of DNA binding 1, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419
JBrowse link
G Ide insulin degrading enzyme no_association ISO
IAGP
DNA:SNPs, haplotype: :rs2209972, rs1887922 (human)
DNA:missense mutations, haplotype:exon:p.H18R, p.A890V (rat)
RGD PMID:12765971 PMID:10958757 PMID:12634421 PMID:16380485 RGD:1626697, RGD:737717, RGD:737718, RGD:1626698 NCBI chr 1:235,002,984...235,102,448
Ensembl chr 1:234,995,351...235,102,440
JBrowse link
G Ifng interferon gamma ISO RGD PMID:18852529 RGD:2311491 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Igf1 insulin-like growth factor 1 IEP
ISO
RGD PMID:18986336 PMID:16005252 RGD:2306690, RGD:2313767 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:decreased expression:pancreas
protein:decreased expression:myocardium, blood vessel endothelial cell
RGD PMID:17476475 PMID:18986336 RGD:2311504, RGD:2306690 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Igf2 insulin-like growth factor 2 IEP
ISO
protein:decreased expression:pancreas RGD PMID:17476475 PMID:10727441 RGD:2311504, RGD:5510004 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 ISO OMIM NCBI chr11:78,874,402...78,974,392
Ensembl chr11:78,874,414...78,974,377
JBrowse link
G Igf2r insulin-like growth factor 2 receptor susceptibility ISO DNA:insertion, deletion:3' utr (human) RGD PMID:16868148 RGD:2311514 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:16005252 RGD:2313767 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO RGD PMID:15685173 RGD:10045952 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
JBrowse link
G Il10 interleukin 10 susceptibility ISO DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human) RGD PMID:19031431 PMID:28843383 RGD:2308943, RGD:14975146 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr  X:115,348,860...115,408,682
Ensembl chr  X:115,348,860...115,408,681
JBrowse link
G Il1b interleukin 1 beta susceptibility ISO DNA:snp:exon:g.3968C>T rs1143634 (human) RGD PMID:21205020 PMID:28843383 RGD:7175255, RGD:14975146 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility
disease_progression
no_association
ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2, IL1RN*3 (human)
associated with Metabolic Syndrome X; DNA:snp:intron:IVS3+102A>G rs3213448 (human)
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
RGD PMID:17069782 PMID:21205020 PMID:8786086 RGD:6907409, RGD:7175255, RGD:6907412 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il6 interleukin 6 IEP
ISO
mRNA:increased expression:adipose tissue
DNA, protein:SNP, increased expression:promoter:serum, -174G>C (human)
ClinVar Annotator: match by OMIM:125853
protein:increased expression:extracellular space (human)
DNA:polymorphism:promoter:-572C>G (human)
OMIM
ClinVar
RGD
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... RGD:2307269, RGD:14975285, RGD:2307266, RGD:2307270 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO DNA:SNPs: :rs2276047,snp8(human)
CTD Direct Evidence: marker/mechanism
DNA:deletion:3' utr (human)
CTD
RGD
PMID:12086927 PMID:25635986 PMID:15220217 PMID:12086927 RGD:1626127, RGD:633161 NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:3511099 PMID:7573102 PMID:11522680 PMID:11978674 PMID:15531508 More... RGD:1625120, RGD:2311112 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Insr insulin receptor treatment ISO
IMP
IDA
IEP
protein:increased serine phosphorylation, increased protein binding:liver
ClinVar Annotator: match by term: Type 2 diabetes
ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus
ClinVar Annotator: match by term: Diabetes mellitus type 2
protein:decreased phosphorylation:vastus lateralis:phosphotyrosine (human)
protein:decreased expression:kidney
ClinVar
RGD
PMID:1607076 PMID:1845971 PMID:2040394 PMID:2884728 PMID:4413914 More... RGD:2307334, RGD:2314405, RGD:10403046, RGD:2307342, RGD:2290475, RGD:2307335, RGD:2307341, RGD:2307333, RGD:2307334 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Irs1 insulin receptor substrate 1 no_association ISO
IDA
DNA:point mutation:exon:T608R
ClinVar Annotator: match by term: Diabetes mellitus type 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:125853
DNA:SNP:promoter:-446G>A, -7120G>A (human)
DNA:polymorphisms: :p.P512A, p.G971R (human)
ClinVar
CTD
OMIM
RGD
PMID:8104271 PMID:8723689 PMID:10430617 PMID:11775217 PMID:12679424 More... RGD:1624975, RGD:7207057, RGD:6483016, RGD:6483015, RGD:6482863 NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
JBrowse link
G Irs2 insulin receptor substrate 2 ISO DNA:polymorphism:exon:G1057D OMIM
RGD
PMID:11030756 PMID:14617753 RGD:1625023, RGD:10045938 NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
JBrowse link
G Isl1 ISL LIM homeobox 1 ISO associated with Obesity;DNA:SNP:promoter:g.-47A>G (human) RGD PMID:11978668 RGD:2311117 NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584
JBrowse link
G Itga1 integrin subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr 2:46,646,125...46,812,237
Ensembl chr 2:46,653,193...46,812,238
JBrowse link
G Itga2 integrin subunit alpha 2 ISO protein:increased expression:platelet (human) RGD PMID:15025679 RGD:2307425 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Itln1 intelectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23555749 NCBI chr13:83,932,234...83,958,243
Ensembl chr13:83,948,124...83,958,227
JBrowse link
G Jade2 jade family PHD finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr10:36,076,483...36,124,210
Ensembl chr10:36,078,917...36,116,984
JBrowse link
G Jazf1 JAZF zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18372903 NCBI chr 4:81,879,501...82,183,241
Ensembl chr 4:81,881,061...82,183,100
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO
IEP
polymorphisms in the human gene are linked to altered insulin secretion; E23K polymorphism appears to confer susceptibility to diabetes type-2 in Caucasian population
ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to
mRNA:increased expression:heart
CTD Direct Evidence: marker/mechanism
DNA:missense mutation::p.E23K (human)
DNA:SNP
DNA:polymorphism: :p.E23K (human)
ClinVar
CTD
OMIM
RGD
PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 More... RGD:2313610, RGD:12790969, RGD:2313628, RGD:2311533, RGD:2311534 NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
G Kcnk16 potassium two pore domain channel subfamily K member 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158537 NCBI chr15:4,042,506...4,049,652
Ensembl chr15:4,042,506...4,049,652
JBrowse link
G Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 IEP protein:decreased expression:aorta RGD PMID:18790848 RGD:10412045 NCBI chr10:18,557,510...18,614,824
Ensembl chr10:18,557,904...18,565,798
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711366 PMID:18711367 PMID:26551672 NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
JBrowse link
G Kcnu1 potassium calcium-activated channel subfamily U member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr16:66,141,696...66,229,493
Ensembl chr16:66,141,976...66,229,465
JBrowse link
G Kdr kinase insert domain receptor ISO protein:decreased expression:skin, blood vessel RGD PMID:17898089 RGD:5684411 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Kl Klotho IEP
ISO
mRNA:decreased expression:kidney:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:28869590 PMID:23967103 RGD:10044235 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
JBrowse link
G Klf11 Kruppel-like factor 11 ISO DNA:polymorphisms: :p.Q62R, p.A347S, p.T220M (human) RGD PMID:15774581 RGD:2311540 NCBI chr 6:41,285,699...41,297,548
Ensembl chr 6:41,285,842...41,297,550
JBrowse link
G Klf14 Kruppel-like factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29632379 NCBI chr 4:59,554,011...59,556,933
Ensembl chr 4:59,554,011...59,556,933
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO RGD PMID:23826075 RGD:9588237 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Ksr2 kinase suppressor of ras 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr12:38,802,796...39,187,809
Ensembl chr12:38,802,004...39,188,375
JBrowse link
G Lcn2 lipocalin 2 ISO protein:increased expression:serum: RGD PMID:19949414 RGD:126779589 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lep leptin susceptibility IMP
ISO
DNA:SNP,haplotype:promoter,3'utr: -632G>A, +4998A>C (human)
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:15070752 PMID:19289493 PMID:18564365 RGD:2311130, RGD:2311139 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lepr leptin receptor susceptibility
treatment
ISO
IAGP
DNA:insertion:3' utr (human)
associated with nonalcoholic fatty liver disease;DNA:intron:c.2673+1118C>T (rs6700896) (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms (human)
CTD
RGD
PMID:20175764 PMID:22933112 PMID:24263156 PMID:26939912 PMID:17065694 More... RGD:2311144, RGD:14696694, RGD:13432147, RGD:10412018, RGD:2311141 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Leprfa leptin receptor; fa mutant IAGP RGD PMID:23154293 RGD:13432147
G Lipc lipase C, hepatic type susceptibility ISO DNA:transition:promoter:-250G>A (human)
ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma (human)
ClinVar
CTD
OMIM
RGD
PMID:15126514 PMID:15656877 PMID:18364377 PMID:15656877 PMID:16429317 RGD:2308830, RGD:2308826 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
JBrowse link
G Lipe lipase E, hormone sensitive type ISO mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:15609025 RGD:2313584 NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
JBrowse link
G Lmna lamin A/C no_association ISO DNA:SNPs RGD PMID:17327461 PMID:17327437 RGD:1624984, RGD:1624985 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Lnpep leucyl and cystinyl aminopeptidase ISO
IDA
RGD PMID:11701721 PMID:16967782 RGD:2311542, RGD:2306436 NCBI chr 1:58,258,642...58,355,532
Ensembl chr 1:58,258,642...58,354,544
JBrowse link
G LOC681241 hypothetical protein LOC681241 ISO ClinVar Annotator: match by term: Diabetes mellitus type 2 ClinVar NCBI chr17:82,062,461...82,174,401
Ensembl chr17:82,071,838...82,174,353
JBrowse link
G Lpl lipoprotein lipase treatment ISO
IEP
DNA:SNP:intron:13836C>A (rs343) (human)
associated with Obesity
RGD PMID:8641022 PMID:29981201 PMID:18985010 PMID:18321693 RGD:1580537, RGD:13793399, RGD:2313298, RGD:2313304 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Lta lymphotoxin alpha onset
no_association
ISO DNA:polymorphism: :p.T60N (human) RGD PMID:15729581 PMID:16132956 RGD:1625033, RGD:2313261 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Madd MAP-kinase activating death domain ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
JBrowse link
G Maea macrophage erythroblast attacher, E3 ubiquitin ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158537 NCBI chr14:77,357,261...77,390,683
Ensembl chr14:77,357,264...77,390,671
JBrowse link
G Mafa MAF bZIP transcription factor A ISO
ISS
protein:decreased expression:islet:
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
protein:decreased expression:beta cells of pancrea
MouseDO
RGD
PMID:24013263 PMID:20424231 RGD:13506742, RGD:13506745 NCBI chr 7:107,432,292...107,435,061
Ensembl chr 7:107,433,605...107,434,690
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha treatment IEP RGD PMID:21820301 RGD:11561956 NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
JBrowse link
G Mapk1 mitogen activated protein kinase 1 treatment ISO
IDA
protein:hypophosphorylation:pancreatic islet:
protein:increased expression:dorsal horn:
protein:hyperphosphorylation:pancreas:
RGD PMID:26860984 PMID:19164460 PMID:21911753 PMID:28757391 PMID:27259299 RGD:13506775, RGD:13506786, RGD:13506785, RGD:13506777, RGD:13506776 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mapk3 mitogen activated protein kinase 3 treatment IDA
ISO
protein:hypophosphorylation:pancreatic islet:
protein:increased expression:dorsal horn:
protein:hyperphosphorylation:pancreas:
RGD PMID:21911753 PMID:19164460 PMID:28757391 PMID:27259299 PMID:26860984 RGD:13506785, RGD:13506786, RGD:13506777, RGD:13506776, RGD:13506775 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 IDA
ISO
protein:hyperphosphorylation:pancreatic islet: RGD PMID:21911753 PMID:21911753 RGD:13506785, RGD:13506785 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 ISO OMIM NCBI chr 3:78,355,051...78,372,946
Ensembl chr 3:78,355,048...78,372,884
JBrowse link
G Mapk9 mitogen-activated protein kinase 9 IDA
ISO
protein:hyperphosphorylation:pancreatic islet: RGD PMID:21911753 PMID:21911753 RGD:13506785, RGD:13506785 NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178
JBrowse link
G Mat1a methionine adenosyltransferase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23665415 NCBI chr16:16,983,084...17,001,284
Ensembl chr16:16,983,022...17,001,274
JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: Diabetes mellitus type 2 ClinVar NCBI chr 3:153,120,605...153,135,628
Ensembl chr 3:153,120,632...153,135,865
JBrowse link
G Mfn2 mitofusin 2 ISO mRNA:decreased expression:skeletal muscle tissue (human) RGD PMID:16123358 RGD:13204820 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mif macrophage migration inhibitory factor IEP mRNA, protein:increased expression:kidney cortex, epithelial cell RGD PMID:16571782 RGD:1641984 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Mir10b microRNA 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 3:59,628,438...59,628,546
Ensembl chr 3:59,628,438...59,628,546
JBrowse link
G Mir122 microRNA 122 ISO miRNA:increased expression:serum RGD PMID:27899485 RGD:14401601 NCBI chr18:58,758,703...58,758,787 JBrowse link
G Mir1249 microRNA 1249 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 7:116,075,593...116,075,712
Ensembl chr 7:116,075,593...116,075,712
JBrowse link
G Mir125b1 microRNA 125b-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr 8:41,952,966...41,953,052
Ensembl chr 8:41,952,966...41,953,052
JBrowse link
G Mir126b microRNA 126b ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr 3:9,415,087...9,415,159 JBrowse link
G Mir127 microRNA 127 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 6:128,546,215...128,546,311
Ensembl chr 6:128,546,215...128,546,311
JBrowse link
G Mir1306 microRNA 1306 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
JBrowse link
G Mir130b microRNA 130b ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244
JBrowse link
G Mir140 microRNA 140 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
JBrowse link
G Mir141 microRNA 141 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
JBrowse link
G Mir142 microRNA 142 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr10:72,557,864...72,557,950
Ensembl chr10:72,557,857...72,557,967
JBrowse link
G Mir144 microRNA 144 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr10:62,961,348...62,961,430
Ensembl chr10:62,961,348...62,961,430
JBrowse link
G Mir146b microRNA 146b ISO RNA:increased expression:arteriole RGD PMID:29374012 RGD:13702880 NCBI chr 1:245,203,438...245,203,525
Ensembl chr 1:245,203,438...245,203,525
JBrowse link
G Mir151 microRNA 151 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 7:105,172,377...105,172,473 JBrowse link
G Mir155 microRNA 155 ISO miRNA:decreased expression:serum RGD PMID:30852102 PMID:27711113 RGD:21079478, RGD:25671464 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir181c microRNA 181c ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr19:23,983,523...23,983,628
Ensembl chr19:23,983,523...23,983,628
JBrowse link
G Mir192 microRNA 192 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
JBrowse link
G Mir195 microRNA 195 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
JBrowse link
G Mir200a microRNA 200a ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 5:166,648,494...166,648,582 JBrowse link
G Mir204 microRNA 204 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 1:220,316,931...220,317,040
Ensembl chr 1:220,316,931...220,317,040
JBrowse link
G Mir205 microRNA 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr13:105,035,878...105,035,985
Ensembl chr13:105,035,878...105,035,985
JBrowse link
G Mir221 microRNA 221 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr  X:3,429,465...3,429,573
Ensembl chr  X:3,429,465...3,429,573
JBrowse link
G Mir222 microRNA 222 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 PMID:28545106 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006
JBrowse link
G Mir223 microRNA 223 severity ISO RNA:increased expression:pancreatic islet RGD PMID:31118273 PMID:31118273 RGD:25823139, RGD:25823139 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Mir27a microRNA 27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917
JBrowse link
G Mir29a microRNA 29a ISO RNA:increased expression:arteriole RGD PMID:29374012 RGD:13702880 NCBI chr 4:59,650,608...59,650,695 JBrowse link
G Mir29b1 microRNA 29b-1 ISO RNA:increased expression:arteriole RGD PMID:29374012 RGD:13702880 NCBI chr 4:59,650,987...59,651,067
Ensembl chr 4:59,650,986...59,651,067
JBrowse link
G Mir30a microRNA 30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
JBrowse link
G Mir339 microRNA 339 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr12:15,277,546...15,277,641
Ensembl chr12:15,277,546...15,277,641
JBrowse link
G Mir375 microRNA 375 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
JBrowse link
G Mir377 microRNA 377 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 6:128,755,051...128,755,122 JBrowse link
G Mir409 microRNA 409 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 6:128,757,780...128,757,856 JBrowse link
G Mir423 microRNA 423 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226
JBrowse link
G Mir487b microRNA 487b ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 6:128,741,485...128,741,566
Ensembl chr 6:128,741,485...128,741,566
JBrowse link
G Mir532 microRNA 532 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393
JBrowse link
G Mir628 microRNA 628 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 8:73,739,846...73,739,929
Ensembl chr 8:73,739,846...73,739,929
JBrowse link
G Mir92b microRNA 92b ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 2:174,633,890...174,633,972
Ensembl chr 2:174,633,890...174,633,972
JBrowse link
G Mir98 microRNA 98 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr  X:20,981,235...20,981,342
Ensembl chr  X:20,981,235...20,981,342
JBrowse link
G Mirlet7d microRNA let-7d ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr17:16,115,893...16,115,990
Ensembl chr17:16,115,893...16,115,990
JBrowse link
G Mki67 marker of proliferation Ki-67 IEP protein:increased expression:hippocampus RGD PMID:20045412 RGD:2317709 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO
IEP
protein:decreased expression:renal glomerulus (human)
protein:increased expression:nucleus pulposus
RGD PMID:19506087 PMID:19951028 RGD:2312464, RGD:7207379 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:plasma (human) RGD PMID:17320450 RGD:7207195 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IEP RGD PMID:23204894 RGD:8694120 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO
IEP
protein:increased expression:plasma (human) RGD PMID:17320450 PMID:23204894 PMID:18552985 RGD:7207195, RGD:8694120, RGD:8547849 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mok MOK protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23500658 NCBI chr 6:129,823,794...129,854,669
Ensembl chr 6:129,823,795...129,854,700
JBrowse link
G Mpst mercaptopyruvate sulfurtransferase IEP RGD PMID:20127051 RGD:5134362 NCBI chr 7:109,955,581...109,963,155
Ensembl chr 7:109,955,675...109,963,141
JBrowse link
G Mras muscle RAS oncogene homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 8:99,944,036...100,006,771
Ensembl chr 8:99,944,036...99,996,408
JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II IEP mRNA:decreased expression:soleus RGD PMID:14563825 RGD:2300410 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b IEP mRNA:decreased expression:pancreatic islet RGD PMID:7588317 RGD:2298962 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IEP
ISO
mRNA, protein:decreased expression:soleus, mitochondrion
DNA:SNP: :3394T>C (human)
DNA:polymorphism: :3316G>A, 3394T>C (human)
RGD PMID:14563825 PMID:18679013 PMID:15265369 RGD:2300410, RGD:2311583, RGD:2311592 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt2A metallothionein 2A ISO associated with Atherosclerosis; DNA:snp:promoter:g.-209A>G (human)
DNA:missense mutation:cds:p.K51R (rs8052394) (human)
RGD PMID:16518702 PMID:18349110 RGD:6483843, RGD:6483853 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association
ISO DNA:transition:cds:g.677C>T (human)
DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)
RGD PMID:21186995 PMID:16828193 PMID:19996639 RGD:6893476, RGD:6893657, RGD:6893653 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mtnr1a melatonin receptor 1A IEP mRNA:increased expression:pancreas RGD PMID:16441550 RGD:2301037 NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919
JBrowse link
G Mtnr1b melatonin receptor 1B ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
RGD
PMID:19060907 PMID:19060908 PMID:19060909 PMID:22286214 PMID:26551672 More... RGD:9588652 NCBI chr 8:12,638,219...12,652,737
Ensembl chr 8:12,638,219...12,652,737
JBrowse link
G Mtor mechanistic target of rapamycin kinase susceptibility ISO
IEP
DNA:SNP: :rs7212142(human)
mRNA,protein:increased expression:hippocampus
RGD PMID:28536139 PMID:23165862 RGD:13506787, RGD:13506788 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase IEP RGD PMID:21818837 RGD:7207079 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO protein:increased expression:serum RGD PMID:18410550 RGD:2311099 NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
JBrowse link
G Ncoa6 nuclear receptor coactivator 6 IEP mRNA:decreased expression:pancreatic islet (rat) RGD PMID:16738321 RGD:9590126 NCBI chr 3:143,890,896...143,961,916
Ensembl chr 3:143,890,896...143,952,268
JBrowse link
G Neurod1 neuronal differentiation 1 no_association
onset
ISO DNA:missense mutation: :p.E110K (human
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:125853
associated with Obesity;DNA:missense mutation: :p.H241Q (human)
DNA:missense mutation, nonsense mutation (human)
DNA:polymorphism: :p.A45T (human)
DNA:missense mutation: :p.S159P (human)
CTD
ClinVar
OMIM
RGD
PMID:10545951 PMID:16123366 PMID:11719843 PMID:18331410 PMID:10545951 More... RGD:2313488, RGD:2313478, RGD:2313489, RGD:2313486, RGD:2313480, RGD:2313482 NCBI chr 3:64,360,222...64,363,526
Ensembl chr 3:64,359,395...64,363,649
JBrowse link
G Neurog3 neurogenin 3 ISO RGD PMID:17146417 RGD:2313775 NCBI chr20:30,079,780...30,081,262
Ensembl chr20:30,079,780...30,081,262
JBrowse link
G Nfatc2 nuclear factor of activated T-cells 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr 3:157,195,970...157,328,640
Ensembl chr 3:157,198,872...157,328,325
JBrowse link
G Nfe2l1 nuclear factor, erythroid 2-like 1 ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr10:81,796,055...81,812,926
Ensembl chr10:81,800,366...81,832,318
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment IEP RGD PMID:23954466 RGD:10412692 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17107852 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link
G Nkx6-1 NK6 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr14:7,969,756...7,976,689
Ensembl chr14:7,969,756...7,976,681
JBrowse link
G Nog noggin IEP mRNA, protein:increased expression:aorta RGD PMID:21193740 RGD:10430114 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
G Nos1 nitric oxide synthase 1 IEP RGD PMID:16323284 RGD:1581689 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Nos2 nitric oxide synthase 2 susceptibility ISO
IEP
DNA:insertion/deletion, repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:liver (mouse)
protein:increased expression:retina
CTD
RGD
PMID:16959961 PMID:19395279 PMID:21963495 PMID:18773271 RGD:2312484, RGD:5508747, RGD:2313220 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12716763 PMID:16959961 PMID:18356581 RGD:2292097 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18372903 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Nppa natriuretic peptide A ISO RGD PMID:19675071 RGD:2313586 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Nppb natriuretic peptide B IEP
ISO
protein:increased expression:plasma
protein:increased expression:serum
RGD PMID:18192848 PMID:22037102 RGD:2293330, RGD:5685645 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Npy neuropeptide Y ISO DNA:missense mutation:cds:p.L7P (human) RGD PMID:15926114 RGD:1580183 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 ISO DNA:polymorphisms: :multiple RGD PMID:18781616 RGD:2311604 NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 treatment IEP RGD PMID:23637135 RGD:10448992 NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO RGD PMID:20939869 RGD:13506790 NCBI chr 1:95,041,967...95,047,377
Ensembl chr 1:95,041,967...95,047,377
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IDA RGD PMID:17292727 RGD:4892117 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
JBrowse link
G Nucb2 nucleobindin 2 ISO
IEP
mRNA:decreased expression:islet of Langerhans:
protein:decreased expression:pancreas:
RGD PMID:22108805 PMID:20032201 RGD:9831161, RGD:9831177 NCBI chr 1:170,750,830...170,787,356
Ensembl chr 1:170,750,877...170,787,353
JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pancreatic islet, mitochondrion
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:22652274 PMID:12003641 RGD:2317133 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 IEP mRNA, protein:decreased expression, decreased activity:pancreatic islets (rat) RGD PMID:20460097 RGD:2326185 NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO RGD PMID:15483100 RGD:6480536 NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
JBrowse link
G Pam peptidylglycine alpha-amidating monooxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24464100 PMID:30054598 NCBI chr 9:97,998,581...98,271,966
Ensembl chr 9:98,122,916...98,271,965
JBrowse link
G Pappa1 pappalysin 1 ISO protein:decreased expression:serum RGD PMID:17728480 RGD:2313776 NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
JBrowse link
G Parl presenilin associated, rhomboid-like onset ISO DNA:missense mutation:cds:p.L262V (human)
mRNA:decreased expression:vastus lateralis (human)
RGD PMID:19185381 PMID:20444421 RGD:12880445, RGD:12902628 NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:15895395 RGD:11075068 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pax4 paired box 4 onset ISO
IMP
DNA:polymorphism, mutations: :p.R192H, p.R164W, IVS7-1G>A (human)
ClinVar Annotator: match by OMIM:125853
DNA:mutation: :p.R121W (human)
ClinVar
OMIM
RGD
PMID:11723072 PMID:17426099 PMID:12604352 RGD:2311632, RGD:2311635 NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pc pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 no_association ISO
IDA
DNA:SNPs (human) RGD PMID:18443203 PMID:16620271 PMID:16978381 PMID:19070910 PMID:17242918 RGD:2311640, RGD:1601241, RGD:1601239, RGD:2311639, RGD:2311643 NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 no_association IDA
ISO
IEP
protein:increased expression:pancreatic alpha cell (mouse)
protein:decreased expression:pancreatic islet (mouse)
DNA:missense mutations:cds:p.R53Q, p.Q638E (human)
protein:altered expression:pancreatic islet (rat)
RGD PMID:17630003 PMID:18941442 PMID:18448419 PMID:8666140 PMID:12475375 RGD:2308898, RGD:2308930, RGD:2308932, RGD:2308935, RGD:2298715 NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
JBrowse link
G Pcsk2 proprotein convertase subtilisin/kexin type 2 ISO DNA:repeats:intron:IVS2CA (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16123366 PMID:7698505 RGD:2308936 NCBI chr 3:130,880,422...131,183,127
Ensembl chr 3:130,880,422...131,183,127
JBrowse link
G Pdcd1 programmed cell death 1 ISO protein:increased expression:kidney RGD PMID:23219834 RGD:7248672 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 no_association ISO
IEP
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Diabetes mellitus type 2
DNA:polymorphism:cds:D76N (human)
ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon 2 (mouse)
mRNA:increased expression:pancreatic islet (human)
DNA:insertion, polymorphism:cds:InsCCG243, Q59L, D76N (human)
protein:increased expression:pancreatic duct (mouse)
protein:decreased expression:pancreas (rat)
ClinVar
RGD
OMIM
CTD
PMID:10545530 PMID:10545531 PMID:10720084 PMID:11022198 PMID:11270685 More... RGD:2311308, RGD:2311305, RGD:2311217, RGD:2311308, RGD:2311306, RGD:2311307, RGD:2311221, RGD:2311219 NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:bone marrow stem cell (mouse) RGD PMID:21984919 RGD:6771358 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Pepd peptidase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158537 NCBI chr 1:87,536,650...87,681,233 JBrowse link
G Phox2a paired-like homeobox 2a ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118
JBrowse link
G Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha ISO mRNA:decreased expression:Islets of Langerhans RGD PMID:21127054 RGD:7243008 NCBI chr 1:170,577,942...170,684,353
Ensembl chr 1:170,577,942...170,683,472
JBrowse link
G Pik3c2g phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma susceptibility ISO DNA:SNP:cds:437C>T(human) RGD PMID:17991425 RGD:13506796 NCBI chr 4:172,483,752...172,851,623
Ensembl chr 4:172,484,345...172,850,544
JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta treatment ISO RGD PMID:11812753 RGD:13506799 NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:31626838 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 susceptibility IEP
ISO
protein:increased phosphorylation:retina (rat)
DNA:polymorphism: :
RGD PMID:18443201 PMID:14551916 RGD:4108490, RGD:11067972 NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
G Pklr pyruvate kinase L/R susceptibility
no_association
ISO DNA:SNPs:introns,exons:
DNA:SNP: :rs3020781(human)
RGD PMID:12196482 PMID:19111066 RGD:13506801, RGD:13506802 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:22399516 RGD:6482782 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Plat plasminogen activator, tissue type ISO
IEP
protein:decreased expression:plasma (rat)
mRNA:decreased expression:kidney
associated with Obesity
RGD PMID:16724515 PMID:10899350 PMID:18235054 PMID:16038272 PMID:14693179 More... RGD:2311670, RGD:1598920, RGD:2311665, RGD:2311672, RGD:2311675, RGD:2311673 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Plaur plasminogen activator, urokinase receptor onset ISO protein:increased expression:plasma RGD PMID:22050462 RGD:6483792 NCBI chr 1:80,053,441...80,068,384
Ensembl chr 1:80,050,324...80,068,595
JBrowse link
G Plekha1 pleckstrin homology domain containing A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 1:185,427,982...185,479,157
Ensembl chr 1:185,428,048...185,479,156
JBrowse link
G Pln phospholamban IEP mRNA:decreased expression:heart left ventricle RGD PMID:22621761 RGD:7327183 NCBI chr20:32,629,537...32,639,559 JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 ISO DNA:SNP: :rs738409 (p.I148M) (human) RGD PMID:31377187 RGD:14981594 NCBI chr 7:115,293,538...115,314,077
Ensembl chr 7:115,293,538...115,314,077
JBrowse link
G Pon1 paraoxonase 1 no_association
severity
ISO protein:decreased expression:serum
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
associated with Diabetic Retinopathy;DNA:missense mutations:cds:p.L55M, p.Q192R (human)
DNA:polymorphism: :p.Q192R (human)
protein:increased expression:serum
RGD PMID:17949258 PMID:9591753 PMID:10677395 PMID:18290860 PMID:19328014 RGD:2313270, RGD:8547663, RGD:8547560, RGD:2313269, RGD:2307252 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human)
associated with Diabetic Retinopathy;DNA:missense mutation:cds:p.C310S (human)
RGD PMID:18776646 PMID:10677395 RGD:2313490, RGD:8547560 NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17317762 PMID:31626838 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO
ISS
DNA:SNPs
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
MouseDO
RGD
PMID:16804087 RGD:1625186 NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma no_association
susceptibility
ISO ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Diabetes mellitus type 2
DNA:snp:cds:p.P12A (human)
DNA:polymorphism: :p.P12A (human)
ClinVar
CTD
OMIM
RGD
PMID:9467001 PMID:9792554 PMID:10523018 PMID:10622252 PMID:10851250 More... RGD:2301861, RGD:8552822, RGD:2301851, RGD:2301846 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment
no_association
susceptibility
ISO
IEP
IDA
DNA:polymorphism:exon:p.G482S (human)
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:soleus muscle:type I muscle fiber (rat)
protein:decreased expression:dorsal root ganglia
DNA:polymorphism:exon:p.G482S (human, Pima Indians)
DNA:snps:intron:IVS3+52T>G, IVS3+21963A>G (rs2946385, rs4235308) (human)
protein:decreased expression:vastus lateralis (human)
DNA:hypermethylation:promoter:g.-383 (human)
CTD
RGD
PMID:15592662 PMID:17317762 PMID:18270681 PMID:17158179 PMID:22561641 More... RGD:2311391, RGD:10059689, RGD:7242175, RGD:7242067, RGD:7242043, RGD:7242032, RGD:7242009, RGD:7241851, RGD:7241849 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Ppargc1b PPARG coactivator 1 beta no_association ISO DNA:polymorphism:exon:102605C>A RGD PMID:16759305 RGD:1642500 NCBI chr18:54,758,891...54,861,103
Ensembl chr18:54,758,902...54,861,194
JBrowse link
G Ppp1r3a protein phosphatase 1, regulatory subunit 3A onset
no_association
ISO DNA:missense mutation:cds:p.D905Y (human)
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Diabetes mellitus, type II, digenic
DNA:insertion/deletion
DNA:missense mutation: :p.D905Y (human)
DNA:missense mutations, polymorphisms:CDS, 3' UTR:p.R883S, p.D905Y (human)
DNA:missense mutation::p.D905Y (human)
ClinVar
OMIM
RGD
PMID:7581368 PMID:12118251 PMID:25741868 PMID:11793847 PMID:12831406 More... RGD:2311560, RGD:2311596, RGD:2311515, RGD:2311531, RGD:2311532, RGD:2311552 NCBI chr 4:42,937,353...42,980,195
Ensembl chr 4:42,939,599...42,980,638
JBrowse link
G Ppp1r3c protein phosphatase 1, regulatory subunit 3C ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr 1:234,460,958...234,465,961
Ensembl chr 1:234,460,652...234,465,961
JBrowse link
G Ppp2ca protein phosphatase 2 catalytic subunit alpha IEP mRNA:increased expression:liver, quadriceps, epididymal fat pad (rat) RGD PMID:22087313 RGD:8693665 NCBI chr10:36,358,110...36,377,864
Ensembl chr10:36,358,101...36,377,862
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 IMP RGD PMID:20054491 RGD:2316808 NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 susceptibility ISO DNA:SNPs RGD PMID:16567511 RGD:1625266 NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
JBrowse link
G Prkcb protein kinase C, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15531508 NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
JBrowse link
G Prkce protein kinase C, epsilon IEP mRNA,protein:decreased expression:liver: RGD PMID:26398746 RGD:13506804 NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719
JBrowse link
G Prkci protein kinase C, iota ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352
JBrowse link
G Prkcz protein kinase C, zeta IEP mRNA,protein:decreased expression:liver,pancreas: RGD PMID:26398746 RGD:13506804 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase IEP protein:decreased expression:cerebral cortex (rat) RGD PMID:28573460 RGD:13432564 NCBI chr 1:48,688,651...49,882,520 JBrowse link
G Prox1 prospero homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20081858 NCBI chr13:101,669,184...101,719,804
Ensembl chr13:101,669,184...101,711,183
JBrowse link
G Psmd6 proteasome 26S subunit, non-ATPase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158537 NCBI chr15:11,102,208...11,112,180
Ensembl chr15:11,102,180...11,205,620
JBrowse link
G Ptf1a pancreas associated transcription factor 1a ISO ClinVar Annotator: match by term: Diabetes mellitus type 2 ClinVar NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
JBrowse link
G Ptgds prostaglandin D2 synthase IEP protein:increased expression:urine RGD PMID:16384826 RGD:1642580 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP RGD PMID:18706904 RGD:2300222 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Pth parathyroid hormone ISO DNA:snp:exon:g.350C>A rs6256 (human) RGD PMID:22777106 RGD:7242744 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO OMIM NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
JBrowse link
G Rarres2 retinoic acid receptor responder 2 IEP protein:increased expression:multiple: RGD PMID:30873215 RGD:15036825 NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556
JBrowse link
G Rbp4 retinol binding protein 4 susceptibility IEP
ISO
protein:increased expression:serum
DNA:polymorphism
RGD PMID:19080170 PMID:17174134 PMID:19506831 RGD:2311652, RGD:1601615, RGD:2311651 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO ClinVar Annotator: match by term: Diabetes mellitus type 2 ClinVar PMID:29924900 NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
JBrowse link
G Rbpjl recombination signal binding protein for immunoglobulin kappa J region-like ISO ClinVar Annotator: match by term: Diabetes mellitus type 2 ClinVar NCBI chr 3:153,134,044...153,147,421
Ensembl chr 3:153,134,140...153,146,513
JBrowse link
G Reg3b regenerating family member 3 beta IEP mRNA:increased expression:islet of Langerhans (rat) RGD PMID:24587207 RGD:9831427 NCBI chr 4:110,861,775...110,865,015
Ensembl chr 4:110,861,775...110,865,015
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23500658 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Retn resistin no_association ISO DNA:polymorphism: :299G>A (human)
protein:decreased expression:serum
DNA:SNP:3' utr:*62A>G (human)
DNA:SNP:promoter:-420G>C (rs1862513) (human)
protein:increased expression:serum
DNA:SNPs:promoter:-394C>G, -420G>C (rs1862513) (human)
OMIM
RGD
PMID:19177195 PMID:15523596 PMID:12629116 PMID:19738363 PMID:19269054 More... RGD:2313498, RGD:7207163, RGD:1624968, RGD:2313494, RGD:2313497, RGD:2313495 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
JBrowse link
G Rnf6 ring finger protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr12:8,816,777...8,826,870
Ensembl chr12:8,816,833...8,826,847
JBrowse link
G Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO associated with Obesity;DNA:polymorphism:intron:4681C>T (human)
DNA:repeat:intron (human)
RGD PMID:15161552 PMID:10024077 RGD:2311704, RGD:2311705 NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO RGD PMID:16331578 RGD:2301814 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G S100a6 S100 calcium binding protein A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 IEP mRNA:increased expression:heart ventricle RGD PMID:22581745 RGD:6484255 NCBI chr 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739
JBrowse link
G Sctr secretin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr13:31,127,781...31,190,162
Ensembl chr13:31,127,858...31,180,189
JBrowse link
G Sdc2 syndecan 2 ISO protein:increased expression:kidney RGD PMID:14976204 RGD:2311706 NCBI chr 7:64,127,185...64,239,885
Ensembl chr 7:64,127,110...64,241,081
JBrowse link
G Sdc4 syndecan 4 ISO mRNA:increased expression:kidney
ClinVar Annotator: match by term: Diabetes mellitus type 2
ClinVar
RGD
PMID:14633120 RGD:2311707 NCBI chr 3:153,154,888...153,173,576
Ensembl chr 3:153,154,896...153,173,580
JBrowse link
G Sdf2l1 stromal cell-derived factor 2-like 1 susceptibility IAGP DNA:deletion:exons, introns:g.3_910del (rat) RGD PMID:27463508 RGD:11528530 NCBI chr11:83,872,659...83,874,902
Ensembl chr11:83,872,659...83,874,902
JBrowse link
G Sell selectin L no_association ISO RGD PMID:22119815 RGD:7175303 NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
JBrowse link
G Selp selectin P ISO protein:increased expression:plasma RGD PMID:17598012 RGD:2312303 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
JBrowse link
G Serpina12 serpin family A member 12 treatment IDA RGD PMID:16030142 RGD:1547845 NCBI chr 6:122,952,552...122,967,271
Ensembl chr 6:122,952,552...122,967,271
JBrowse link
G Serpinc1 serpin family C member 1 ISO protein:increased activity:plasma (human) RGD PMID:7974333 RGD:2312416 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
JBrowse link
G Serpine1 serpin family E member 1 no_association
treatment
ISO
IDA
IEP
DNA:polymorphism:
protein:decreased expression:plasma (human)
mRNA:increased expression:kidney
RGD PMID:16855181 PMID:14614217 PMID:8236167 PMID:19706694 RGD:1624959, RGD:2312394, RGD:8547723, RGD:2316116 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Serpinf1 serpin family F member 1 severity
treatment
ISO
IMP
IEP
protein:increased expression:serum
human protein in a rat model
protein:increased expression:plasma (rat)
RGD PMID:18715664 PMID:24530621 PMID:24530621 PMID:17653050 RGD:2312340, RGD:8655541, RGD:8655541, RGD:8554888 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Sfrp4 secreted frizzled-related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23140642 NCBI chr17:45,278,867...45,330,806
Ensembl chr17:45,234,097...45,330,736
JBrowse link
G Sgcg sarcoglycan, gamma susceptibility ISO DNA:SNP: : rs9552911(human) RGD PMID:28123479 RGD:13605620 NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
JBrowse link
G Shbg sex hormone binding globulin susceptibility ISO DNA, protein:SNPs, decreased expression:rs6257, rs6259, plasma (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21982312 PMID:19657112 RGD:2313782 NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
JBrowse link
G Sirt1 sirtuin 1 treatment ISO
IMP
associated with Obesity
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23834033 PMID:18046409 PMID:19549853 RGD:9585769, RGD:9585997 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Sirt3 sirtuin 3 ISO mRNA:decreased expression:pancreatic islet RGD PMID:23397292 RGD:9586042 NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr 3:89,005,129...89,126,498
Ensembl chr 3:89,005,129...89,126,498
JBrowse link
G Slc22a3 solute carrier family 22 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 1:48,235,476...48,324,617
Ensembl chr 1:48,235,476...48,324,612
JBrowse link
G Slc2a1 solute carrier family 2 member 1 no_association ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9589670 PMID:18613291 PMID:7516306 PMID:9789717 RGD:2312306, RGD:2312289, RGD:2312290 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Slc2a2 solute carrier family 2 member 2 susceptibility ISO DNA:SNPs (human)
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:point mutation:exon:p.V197I (human)
ClinVar
CTD
OMIM
RGD
PMID:8027028 PMID:8063045 PMID:11810292 PMID:16123366 PMID:16199547 More... RGD:2312359, RGD:1624252 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO protein:decreased expression:granulocyte, lymphocyte, monocyte RGD PMID:19110659 RGD:2313602 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:125853
DNA:point mutation:exon:p.V383I (human)
CTD
ClinVar
RGD
PMID:1397719 PMID:1918382 PMID:7814014 PMID:11947963 PMID:17107852 More... RGD:2313625, RGD:1625188 NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Diabetes mellitus type 2
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by OMIM:125853
OMIM
ClinVar
CTD
PMID:19479076 PMID:19542200 PMID:20424817 PMID:21461562 PMID:21779873 More... NCBI chr 7:83,591,993...83,627,786
Ensembl chr 7:83,591,993...83,626,305
JBrowse link
G Slc9a1 solute carrier family 9 member A1 IEP mRNA, protein:decreased expression:heart RGD PMID:22009485 RGD:6771327 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
JBrowse link
G Slpi secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: Diabetes mellitus type 2 ClinVar NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
JBrowse link
G Smad4 SMAD family member 4 treatment IEP RGD PMID:25017203 RGD:12880049 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Smad5 SMAD family member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:20079400 NCBI chr17:7,862,332...7,891,678
Ensembl chr17:7,864,720...7,891,634
JBrowse link
G Smim43 small integral membrane protein 43 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 2:119,366,977...119,386,664 JBrowse link
G Snap25 synaptosome associated protein 25 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO mRNA:increased expression:peritoneal macrophage (mouse) RGD PMID:26606676 RGD:126925207 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
JBrowse link
G Socs3 suppressor of cytokine signaling 3 treatment ISO
IEP
mRNA:increased expression:skeletal muscle RGD PMID:17513737 PMID:29110587 PMID:15331532 RGD:2313788, RGD:13506806, RGD:2313790 NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:decreased expression:erythrocyte
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human)
CTD
RGD
PMID:15531508 PMID:19317795 PMID:16005359 PMID:18423055 RGD:2312363, RGD:1581216, RGD:2312364 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 ISO DNA:polymorphism: :p.A16V (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15531508 PMID:18423055 RGD:2312364 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sod3 superoxide dismutase 3 ISO RGD PMID:15990193 RGD:1581225 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
JBrowse link
G Sorbs1 sorbin and SH3 domain containing 1 ISO DNA:SNP: :p.T228A (human) RGD PMID:11532984 RGD:1642744 NCBI chr 1:239,107,882...239,330,276
Ensembl chr 1:239,108,777...239,330,169
JBrowse link
G Sphk1 sphingosine kinase 1 ISO RGD PMID:17265031 RGD:2311390 NCBI chr10:101,758,567...101,764,240
Ensembl chr10:101,758,711...101,764,240
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO
IMP
protein:increased tyrosine phosphorylation:platelets RGD PMID:15542065 PMID:19230846 RGD:1601373, RGD:2307340 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 IEP mRNA:increased expression:adrenal gland (rat) RGD PMID:17884440 RGD:4891894 NCBI chr 1:33,686,069...33,720,468
Ensembl chr 1:33,686,391...33,720,461
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 susceptibility ISO
IEP
DNA:SNPs
mRNA:increased expression:liver
RGD PMID:18692268 PMID:19357831 RGD:2308809, RGD:2308802 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
JBrowse link
G Srebf1_v2 sterol regulatory element binding factor 1, variant 2 IEP mRNA:increased expression:liver RGD PMID:19357831 RGD:2308802
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:15644403 RGD:1581419 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
JBrowse link
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21874001 NCBI chr11:77,526,837...77,653,474
Ensembl chr11:77,526,837...77,653,310
JBrowse link
G Star steroidogenic acute regulatory protein IEP mRNA:decreased expression:testis, Leydig cell (rat) RGD PMID:18481435 RGD:4889107 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:skeletal muscle RGD PMID:23043161 RGD:8694321 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tcf7l2 transcription factor 7 like 2 susceptibility IEP
ISO
ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:SNP (human)
DNA:SNPs: :multiple (human)
ClinVar
CTD
OMIM
RGD
PMID:16415884 PMID:17206141 PMID:17245407 PMID:17460697 PMID:17463246 More... RGD:2312454, RGD:2312433, RGD:2312453 NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO
IEP
protein:increased expression:urine
CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:heart:
CTD
RGD
PMID:23500658 PMID:18646321 PMID:24613393 RGD:2306740, RGD:11073674 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP protein:increased expression:aorta RGD PMID:11947899 RGD:1601600 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
JBrowse link
G Thada THADA, armadillo repeat containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:18372903 NCBI chr 6:10,183,942...10,488,007
Ensembl chr 6:10,183,982...10,487,159
JBrowse link
G Thbd thrombomodulin disease_progression ISO
IEP
protein:increased expression:plasma
mRNA:decreased expression:blood vessel endothelial cell
RGD PMID:11738074 PMID:17195062 PMID:17090405 RGD:2312458, RGD:2312457, RGD:1601648 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16023759 PMID:16005367 RGD:1580148 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO mRNA:decreased expression:skeletal muscle RGD PMID:19633828 RGD:2312470 NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:glomerulus RGD PMID:16567508 RGD:2325150 NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
JBrowse link
G Tlr4 toll-like receptor 4 no_association ISO DNA:polymorphisms: :p.N299G, p.T399I (human)
protein:increased expression:monocyte
RGD PMID:14578307 PMID:19010563 PMID:19395279 PMID:16728431 RGD:2312494, RGD:2312680, RGD:2312484, RGD:2312492 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tmem18 transmembrane protein 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 6:47,206,845...47,214,294
Ensembl chr 6:47,206,845...47,214,294
JBrowse link
G Tnf tumor necrosis factor IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:24513509 PMID:20559450 PMID:28843383 RGD:5130987, RGD:14975146 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B severity ISO protein:increased expression:serum RGD PMID:22050177 RGD:7205512 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A IEP
ISO
mRNA:increased expression:coronary artery (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11882518 PMID:20559450 RGD:5130987 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:11882518 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
G Trpc1 transient receptor potential cation channel, subfamily C, member 1 IEP protein:increased expression:artery smooth muscle RGD PMID:20337661 RGD:7247596 NCBI chr 8:96,263,322...96,314,197
Ensembl chr 8:96,263,329...96,314,276
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 IEP protein:increased expression:artery smooth muscle RGD PMID:20337661 RGD:7247596 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
JBrowse link
G Ube2e2 ubiquitin-conjugating enzyme E2E 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20818381 NCBI chr15:6,980,195...7,257,912
Ensembl chr15:6,980,474...7,257,532
JBrowse link
G Ucp1 uncoupling protein 1 ISO DNA:polymorphisms:5' utr, exon:-112A>C (rs10011540), p.M229L (human) RGD PMID:11317671 RGD:2313631 NCBI chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852
JBrowse link
G Ucp2 uncoupling protein 2 no_association IDA
ISO
IEP
associated with Obesity
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon (human)
mRNA:increased expression:brown fat, white fat, skeletal muscle
CTD
RGD
PMID:15562023 PMID:16123366 PMID:15356383 PMID:11440717 PMID:18344121 More... RGD:2313517, RGD:737760, RGD:7175300, RGD:2313525, RGD:2313630 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
JBrowse link
G Ucp3 uncoupling protein 3 no_association
susceptibility
ISO
IDA
mRNA:altered expression:white fat, skeletal muscle
ClinVar Annotator: match by term: UCP3 POLYMORPHISM G/A
DNA:SNP:exon:p.V102I (human)
associated with Obesity
DNA:polymorphism:promoter:-55C>T (human)
protein:decreased expression:skeletal muscle
associated with Obesity;DNA:SNPs:exon, 3' utr:rs1800006, rs647126 (human)
ClinVar
RGD
PMID:9769326 PMID:11587528 PMID:9769326 PMID:15356383 PMID:11484089 More... RGD:2313630, RGD:1625189, RGD:2313517, RGD:2313522, RGD:2313521, RGD:2313523, RGD:2313511 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 IEP mRNA,protein:increased expression,increased activity:intestine, colon: RGD PMID:23545594 RGD:10769362 NCBI chr 9:88,801,344...88,808,465 JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 IEP mRNA,protein:increased expression,increased activity:intestine, colon: RGD PMID:23545594 RGD:10769362 NCBI chr 9:88,747,229...88,808,465 JBrowse link
G Ugt1a7c UDP glucuronosyltransferase 1 family, polypeptide A7C IEP mRNA,protein:increased expression,increased activity:intestine, colon: RGD PMID:23545594 RGD:10769362 NCBI chr 9:88,739,577...88,808,465 JBrowse link
G Usf1 upstream transcription factor 1 no_association
susceptibility
ISO DNA:SNPs:intron, 3' utr:multiple (human)
DNA:SNP: :rs2073658 (human)
DNA:SNP: :rs3737787 (human)
RGD PMID:16186412 PMID:18445538 PMID:18593823 RGD:2313794, RGD:2313793, RGD:2313792 NCBI chr13:83,845,230...83,854,875
Ensembl chr13:83,822,035...83,854,885
JBrowse link
G Usp48 ubiquitin specific peptidase 48 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr 5:149,800,189...149,867,838
Ensembl chr 5:149,800,179...149,867,719
JBrowse link
G Uts2 urotensin 2 susceptibility ISO DNA:polymorphism
protein:increased expression:skeletal muscle
protein:increased expression:plasma
DNA:polymorphism: :p.S89N
RGD PMID:18067077 PMID:19323985 PMID:15476950 PMID:15476949 RGD:2306799, RGD:2306785, RGD:2306806, RGD:2306807 NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
JBrowse link
G Uts2r urotensin 2 receptor ISO mRNA:increased expression:skeletal muscle RGD PMID:19323985 RGD:2306785 NCBI chr10:106,438,092...106,439,252
Ensembl chr10:106,438,092...106,439,252
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:18619052 RGD:2312765 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA, protein:increased expression:ventricle myocardium RGD PMID:16139132 RGD:2313728 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vps26a VPS26 retromer complex component A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21874001 NCBI chr20:30,404,320...30,434,266
Ensembl chr20:30,404,325...30,434,131
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein susceptibility
no_association
ISO ClinVar Annotator: match by term: Type 2 diabetes
ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, association with
ClinVar Annotator: match by term: Diabetes mellitus type 2
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype: :rs734312, rs752854, rs10010131 (human)
DNA:SNPs: :rs734312, rs752854, rs10010131 (human)
DNA:SNP: :rs752854 (human)
OMIM
ClinVar
CTD
RGD
PMID:1161832 PMID:9856492 PMID:10679252 PMID:11161832 PMID:12955714 More... RGD:8694405, RGD:8694401, RGD:8694400, RGD:8694399, RGD:8694394 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
JBrowse link
G Wrn WRN RecQ like helicase ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar
RGD
PMID:25741868 PMID:18295300 RGD:10042987 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
JBrowse link
G Zc3hc1 zinc finger, C3HC-type containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 4:58,989,989...59,011,925
Ensembl chr 4:58,989,987...59,011,933
JBrowse link
G Zfand3 zinc finger AN1-type containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158537 NCBI chr20:8,083,407...8,279,617
Ensembl chr20:8,082,200...8,279,616
JBrowse link
background diabetic retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin treatment ISO RGD PMID:10848441 RGD:10046010 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
JBrowse link
G Cat catalase ISO associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: RGD PMID:24092995 RGD:9068931 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:decreased expression:aqueous humor: RGD PMID:23853629 RGD:10402120 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:decreased expression:vitreous: RGD PMID:19799585 RGD:10449447 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY ClinVar
OMIM
PMID:30976112 NCBI chr 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373
JBrowse link
diabetic angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO ClinVar Annotator: match by term: END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO ClinVar
OMIM
PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 More... NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Adcy3 adenylate cyclase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 6:27,100,089...27,203,686
Ensembl chr 6:27,124,828...27,203,686
JBrowse link
G Adcy8 adenylate cyclase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 7:96,417,310...96,665,911
Ensembl chr 7:96,417,324...96,665,911
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20372816 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19733855 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:25033204 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
JBrowse link
G Bdkrb1 bradykinin receptor B1 IMP RGD PMID:15878326 RGD:7241570 NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IDA associated with Diabetes Mellitus, Experimental RGD PMID:23154660 RGD:11526153 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cd28 Cd28 molecule ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:T cell RGD PMID:15504310 RGD:2307197 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:14963650 RGD:2314223 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Crem cAMP responsive element modulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr17:54,238,889...54,305,989
Ensembl chr17:54,239,030...54,305,989
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 susceptibility ISO associated with Diabetic Foot;DNA:polymorphism:3' utr (human) RGD PMID:16723689 RGD:2306558 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
JBrowse link
G Epo erythropoietin ISO ClinVar Annotator: match by OMIM:612623 OMIM
ClinVar
PMID:18458324 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G F3 coagulation factor III, tissue factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
protein:increased expression:plasma
RGD PMID:16371118 PMID:9285207 RGD:2313861, RGD:2313868 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Fas Fas cell surface death receptor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:15803113 RGD:2315753 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25381014 PMID:15803113 RGD:2315753 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fn1 fibronectin 1 IDA RGD PMID:12716757 RGD:1601179 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO RGD PMID:21411989 RGD:7242686 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO cardiovascular complications in type 2 diabetics RGD PMID:16338763 RGD:1600708 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Gsr glutathione-disulfide reductase ISO cardiovascular complications in type 2 diabetics RGD PMID:16338763 RGD:1600708 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7
ClinVar Annotator: match by term: PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO
OMIM
ClinVar
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16959961 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Icam1 intercellular adhesion molecule 1 IDA
ISO
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta
RGD PMID:18796303 PMID:18093596 RGD:2313473, RGD:2306988 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO DNA:SNPs RGD PMID:16306374 RGD:1625238 NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by OMIM:612628 OMIM
ClinVar
PMID:8500797 PMID:8786086 PMID:10025794 PMID:10746728 PMID:10750554 More... NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:12477149 RGD:1582581 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16681562 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Nos2 nitric oxide synthase 2 IEP
IMP
associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea RGD PMID:19241604 PMID:19587355 RGD:4891384, RGD:2313210 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP
ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12124201 PMID:19241604 PMID:29329611 RGD:4891384, RGD:13504708 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO associated with Diabetes Mellitus, Experimental;protein:increased tyrosine phosphorylation:conceptus RGD PMID:10329590 RGD:2311657 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Plat plasminogen activator, tissue type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:18945481 RGD:2311663 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO ClinVar PMID:11978667 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
G Pon1 paraoxonase 1 ISO associated with Diabetes Mellitus;DNA:polymorphisms: p.L55M, p.Q192R (human)
ClinVar Annotator: match by OMIM:612633
ClinVar
OMIM
RGD
PMID:9011577 PMID:9661650 PMID:11335891 PMID:11788650 PMID:11889198 More... RGD:2313270 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Ptk2b protein tyrosine kinase 2 beta treatment IDA associated with Diabetes Mellitus, Type 2 RGD PMID:21926342 RGD:10041069 NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO associated with Diabetes Mellitus Type 1;DNA:polymorphism: :HLA-DRB1*03:01(human) RGD PMID:23376458 RGD:7365114 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO associated with Diabetes Mellitus, Type 2;DNA:deletion, haplotype:promoter:g.-676_-674delG (human) RGD PMID:9844142 RGD:8547700 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Serpinf1 serpin family F member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Sod1 superoxide dismutase 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:16338763 RGD:1600708 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 ISO ClinVar Annotator: match by term: NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO OMIM
ClinVar
PMID:8633092 PMID:10425186 PMID:12624725 PMID:15591282 PMID:16538174 More... NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sparc secreted protein acidic and cysteine rich IEP associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:mesentery, blood vessel RGD PMID:10625572 RGD:2300063 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
JBrowse link
G Thbs1 thrombospondin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 3:105,056,286...105,071,445
Ensembl chr 3:105,056,292...105,071,440
JBrowse link
G Thbs2 thrombospondin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 1:55,670,394...55,699,789
Ensembl chr 1:55,670,394...55,699,789
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:c.-308G>A (human) RGD PMID:18575614 RGD:2313255 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO
protein:increased expression:cochlea:
ClinVar Annotator: match by term: PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO
OMIM
ClinVar
RGD
PMID:11978667 PMID:19241604 RGD:4891384 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
Diabetic Foot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:20836881 RGD:5686889 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood RGD PMID:21941211 RGD:6767555 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Crp C-reactive protein disease_progression ISO protein:increased expression:blood: RGD PMID:22712631 RGD:6906887 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO protein:increased expression:dermis RGD PMID:22455314 RGD:7207269 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B severity ISO DNA:polymorphism: :1538G>A (human) RGD PMID:19731315 RGD:8662463 NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:fibroblast of dermis,stratum basale of epidermis: RGD PMID:10727985 RGD:8549356 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Il15 interleukin 15 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell RGD PMID:17014667 RGD:2313575 NCBI chr19:25,640,013...25,706,818
Ensembl chr19:25,640,251...25,706,820
JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:increased expression:serum: RGD PMID:19997692 RGD:8694068 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:22688339 RGD:8547813 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Plat plasminogen activator, tissue type ISO RGD PMID:17275886 RGD:2311669 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Ptx3 pentraxin 3 ISO protein:decreased expression:plasma (human) RGD PMID:30767386 RGD:38501100 NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human); RGD PMID:23936790 RGD:7777174 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
diabetic retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme susceptibility
no_association
ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:exon:g.2350G>A (rs4343) (human)
associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human)
associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human)
GAD
RGD
PMID:15118671 PMID:2157294 PMID:23065222 PMID:7729604 PMID:11106834 RGD:1331525, RGD:8142360, RGD:7829794, RGD:7829780, RGD:7829783 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Ace2 angiotensin I converting enzyme 2 treatment ISO associated with Diabetes Mellitus, Experimental
human gene in a mouse model
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:31380462 PMID:21792177 PMID:31380462 RGD:8548900, RGD:40818278 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977
JBrowse link
G Acp1 acid phosphatase 1 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:12495297 RGD:2313184 NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing disease_progression ISO associated with Diabetes Mellitus, Type 2;DNA:SNP: :g.45T>G (human)
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
RGD PMID:24655058 PMID:17970779 RGD:8694412, RGD:8694475 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adm adrenomedullin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:19216096 RGD:2313312 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:9313761 RGD:5684400 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
JBrowse link
G Ager advanced glycosylation end product-specific receptor no_association
treatment
severity
susceptibility
ISO
IDA
IEP
associated with Diabetes Mellitus, Type 2;DNA:polymorphisms: :p.G82S, 1704G>T, 2184A>G (human)
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2;DNA:SNP: :2245G>A (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-429T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A, - 429T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A (human)
associated with Diabetes Mellitus, Type 1;DNA:SNP:promoter:-374T>A (human)
protein:increased expression:retina inner nuclear layer, retinal ganglion cell (rat)
associated with Diabetes Mellitus, Type 2;DNA:polymorphisms:promoter, cds, intron:g.-443T>C, p.G82S, g.1704G>T (rs1800625, rs2070600, rs184003) (human)
associated with Diabetes Mellitus, Type 2;DNA:missense mutation, snp, haplotype:cds, intron:p.G82S, g.1704G>T (human)
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
GAD
RGD
PMID:15118671 PMID:22427038 PMID:22171162 PMID:22116960 PMID:11375354 More... RGD:1331525, RGD:8695983, RGD:8695979, RGD:8695967, RGD:8695966, RGD:8695965, RGD:8695958, RGD:8695958, RGD:7244369, RGD:7244248, RGD:7244176, RGD:7244175, RGD:7244174 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Agt angiotensinogen treatment ISO
IMP
associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental
CTD
RGD
PMID:15387897 PMID:10862638 PMID:21792177 RGD:8548872, RGD:8548900 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16601577 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B no_association
susceptibility
IDA
IEP
ISO
associated with Diabetes Mellitus, Experimental
protein:increased expression:retinal astrocyte (rat)
associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.-2008(AC)n (rs35839483) (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:g.-106C>T (human)
associated with Diabetes Mellitus;DNA:repeats, snp:promoter:multiple (human)
RGD PMID:17003340 PMID:8150024 PMID:21067572 PMID:16701918 PMID:19587357 RGD:1626080, RGD:8548684, RGD:8548676, RGD:8548668, RGD:8548640 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
JBrowse link
G Akt1 AKT serine/threonine kinase 1 IEP mRNA, protein:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Ang angiogenin ISO associated with Diabetes Mellitus, Type 2;protein:decreased tyrosine phosphorylation:vitreous humor RGD PMID:18978347 RGD:2307061 NCBI chr15:24,317,733...24,323,361 JBrowse link
G Angpt1 angiopoietin 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:12000720 RGD:2313818 NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
JBrowse link
G Angpt2 angiopoietin 2 IEP
IDA
protein:increased expression:retina (rat) RGD PMID:16520919 PMID:16520919 RGD:2314216, RGD:2314216 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:11522499 RGD:2313826 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:vitreous humor (human) RGD PMID:19081814 RGD:5685692 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Apob apolipoprotein B ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:19448981 RGD:2313976 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Apoc3 apolipoprotein C3 severity ISO protein:increased expression:serum RGD PMID:15642486 RGD:2306768 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Apoe apolipoprotein E susceptibility
no_association
ISO associated with Diabetic Mellitus type 2;DNA:polymorphism:exon: RGD PMID:16862278 PMID:11495633 RGD:7771557, RGD:7771553 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Apoh apolipoprotein H ISO protein:increased expression:vitreous humor RGD PMID:18695102 RGD:2313982 NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
JBrowse link
G Aqp4 aquaporin 4 IMP RGD PMID:22449442 RGD:8695996 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
JBrowse link
G Bdkrb1 bradykinin receptor B1 treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:18311190 RGD:2313334 NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
JBrowse link
G Bdnf brain-derived neurotrophic factor IEP associated with Diabetes Mellitus, Experimental;protein:decreased expression:retina: RGD PMID:15331553 RGD:8655657 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Casp3 caspase 3 IEP
ISO
associated with Diabetes Mellitus, Experimental;protein:increased expresssion:retina
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent
CTD
RGD
PMID:20654064 PMID:19187597 PMID:19013511 RGD:2311444, RGD:2311448 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G