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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 subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.
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;   Slow-Onset Diabetes Mellitus;   T2D;   adult-onset diabetes mellitus;   insulin-resistant 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 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 chr10:105,568,091...105,572,407
Ensembl chr10:105,568,091...105,572,403
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 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A ISO DNA:polymorphism:exon (human) RGD PMID:19470683 RGD:2312331 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
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: Diabetes mellitus type 2
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
PMID:9519757, PMID:9568693, PMID:16885549, PMID:17446535, PMID:18025464, PMID:20943779, PMID:21544516, PMID:22209866, PMID:25306193, PMID:25741868, PMID:26467025, PMID:28492532, PMID:18346985, PMID:18599530, PMID:18664331, PMID:11030411, PMID:17259403, PMID:15579791 RGD:2301901, RGD:2301898, RGD:2301897, RGD:737749, RGD:2313628, RGD:1598640 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 IEP mRNA:decreased expression:liver RGD PMID:25152023 RGD:14700811 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Acot2 acyl-CoA thioesterase 2 IDA RGD PMID:16979414 RGD:1625728 NCBI chr 6:107,460,596...107,468,324
Ensembl chr 6:107,460,668...107,467,487
JBrowse link
G Acp1 acid phosphatase 1 ISO RGD PMID:15281007 RGD:2313183 NCBI chr 6:49,836,064...49,851,714
Ensembl chr 6:49,836,075...49,851,714
JBrowse link
G Ada adenosine deaminase ISO protein:increased expression:serum RGD PMID:15168879 RGD:2313539 NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
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 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
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 4:124,660,254...124,860,997
Ensembl chr 4:124,660,262...124,858,250
JBrowse link
G Adcy5 adenylate cyclase 5 ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:20081858, PMID:23202124, PMID:12607610 RGD:13464136 NCBI chr11:68,695,839...68,842,452
Ensembl chr11:68,695,839...68,842,320
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 PMID:12114044, PMID:12354786, PMID:15734870, PMID:19622782, PMID:28843383, PMID:24655058, PMID:18472407, PMID:16822679, PMID:21155820, PMID:19708766 RGD:2313238, RGD:14975146, RGD:8694412, RGD:5686807, RGD:5686752, RGD:5686359, RGD:2313230 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Adm adrenomedullin ISO protein:increased expression:plasma RGD PMID:17557032 RGD:2313313 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
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 1:274,766,283...274,769,083
Ensembl chr 1:274,766,283...274,769,081
JBrowse link
G Adra2b adrenoceptor alpha 2B onset ISO DNA:polymorphism (human) RGD PMID:17039423, PMID:17277585 RGD:2313544, RGD:2313543 NCBI chr 3:119,805,941...119,809,987
Ensembl chr 3:119,805,941...119,809,987
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 chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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 chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO RGD PMID:20068140 RGD:13838849 NCBI chr 7:70,360,199...70,377,422
Ensembl chr 7:70,364,813...70,377,422
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, PMID:22154374, PMID:23403079, PMID:19735169 RGD:7243184, RGD:8548676, RGD:8695991, RGD:8695991, RGD:8695969, RGD:8695962, RGD:7244262, RGD:7244245 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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 chr19:37,525,941...37,584,875
Ensembl chr19:37,526,419...37,528,011
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 chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr2 angiotensin II receptor, type 2 IEP mRNA, protein:increased expression:aorta RGD PMID:18463192 RGD:2313550 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Ahi1 Abelson helper integration site 1 ISO mRNA:increased expression:vastus lateralis RGD PMID:20045148 RGD:11537398 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
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 chr11:81,711,269...81,717,594 JBrowse link
G Ak1 adenylate kinase 1 IEP protein:increased expression:gastrocnemius muscle (rat) RGD PMID:20127051 RGD:5134362 NCBI chr 3:11,652,143...11,659,135 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 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
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 PMID:31626838, PMID:19289493, PMID:24735788, PMID:19052261 RGD:2311130, RGD:39128151, RGD:2313556 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO DNA:missense mutation:cds:p.R274H (human)
ClinVar Annotator: match by term: Diabetes mellitus type 2
ClinVar Annotator: match by OMIM:125853
protein:decreased activity, phosphorylation:vastus lateralis (human)
ClinVar
OMIM
PMID:15166380, PMID:19164855, PMID:25741868, PMID:28492532, PMID:15166380, PMID:11387480, PMID:19289493, PMID:18972094, PMID:18204829 RGD:2313408, RGD:734545, RGD:2311130, RGD:2307342, RGD:2313405 NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO RGD PMID:15563966 RGD:2311149 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
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 5:64,805,772...64,818,813
Ensembl chr 5:64,805,773...64,818,824
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 4:117,371,544...117,472,310
Ensembl chr 4:117,371,659...117,472,198
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO protein:decreased activity:platelet (human) RGD PMID:9500559 RGD:2313877 NCBI chr10:56,851,734...56,864,049
Ensembl chr10:56,851,734...56,864,005
JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:plasma RGD PMID:15823283 RGD:2313815 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Angptl3 angiopoietin-like 3 ISO protein:increased expression:liver RGD PMID:15094378 RGD:2314234 NCBI chr 5:117,698,590...117,706,729
Ensembl chr 5:117,698,764...117,705,808
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 9:43,110,980...43,117,585
Ensembl chr 9:43,112,141...43,116,521
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 chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
JBrowse link
G Ap3s2 adaptor related protein complex 3 subunit sigma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21874001 NCBI chr 1:141,612,961...141,655,417
Ensembl chr 1:141,612,963...141,655,894
JBrowse link
G Apln apelin ISO protein:decreased expression:plasma RGD PMID:18484561 RGD:2313944 NCBI chr  X:134,856,719...134,866,210
Ensembl chr  X:134,856,726...134,866,210
JBrowse link
G Aplnr apelin receptor ISO protein:decreased expression:renal artery RGD PMID:17692936 RGD:2313945 NCBI chr 3:72,540,538...72,544,183
Ensembl chr 3:72,540,538...72,544,182
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 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
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 chr13:89,596,872...89,598,805
Ensembl chr13:89,597,138...89,598,802
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 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
JBrowse link
G Apob apolipoprotein B treatment ISO RGD PMID:18945923, PMID:15161783 RGD:2313981, RGD:11354945 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoc1 apolipoprotein C1 ISO protein:decreased expression:plasma RGD PMID:3757210 RGD:2313953 NCBI chr 1:80,606,638...80,609,921
Ensembl chr 1:80,606,638...80,609,921
JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:increased expression:plasma RGD PMID:3757210, PMID:12733353 RGD:2313953, RGD:2313966 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
G Apod apolipoprotein D ISO DNA:polymorphism RGD PMID:15369805, PMID:7895459 RGD:2311177, RGD:2311178 NCBI chr11:72,705,204...72,726,263
Ensembl chr11:72,705,129...72,726,301
JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:pancreatic islet RGD
GAD
PMID:18950899, PMID:15118671 RGD:2317556, RGD:1331525 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:16126948 RGD:2313984 NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
JBrowse link
G Apom apolipoprotein M susceptibility ISO DNA:SNP:promoter:g.-778T>C(rs805296)(human) RGD PMID:16572495 RGD:2314248 NCBI chr20:5,120,473...5,123,073
Ensembl chr20:5,120,474...5,123,073
JBrowse link
G Aqp7 aquaporin 7 ISO protein:increased expression:skeletal muscle: RGD PMID:29783856 RGD:13782361 NCBI chr 5:57,358,297...57,372,332
Ensembl chr 5:57,358,327...57,372,239
JBrowse link
G Ar androgen receptor ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO mRNA:decreased expression:pancreatic islet RGD PMID:16096055 RGD:2313995 NCBI chr 2:196,594,178...196,651,486
Ensembl chr 2:196,594,303...196,651,179
JBrowse link
G Arntl2 aryl hydrocarbon receptor nuclear translocator-like 2 ISO DNA:SNPs: :rs7950226, rs11022775(human) RGD PMID:17728404 RGD:2314371 NCBI chr 4:181,103,774...181,158,415
Ensembl chr 4:181,103,774...181,214,994
JBrowse link
G Arrb2 arrestin, beta 2 treatment IEP RGD PMID:24337852 RGD:13506901 NCBI chr10:57,040,252...57,048,045
Ensembl chr10:57,040,267...57,048,134
JBrowse link
G Arx aristaless related homeobox IEP RGD PMID:16772326 RGD:1599258 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
G Asip agouti signaling protein ISO mRNA:increased expression:adipose tissue
CTD Direct Evidence: marker/mechanism
CTD PMID:8146154, PMID:14633851 RGD:2313999 NCBI chr 3:150,492,010...150,579,870
Ensembl chr 3:150,574,473...150,579,870
JBrowse link
G Asl argininosuccinate lyase ISO mRNA:increased expression:leukocyte RGD PMID:16121806 RGD:2314010 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Atf3 activating transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr13:109,817,892...109,849,632
Ensembl chr13:109,817,728...109,849,632
JBrowse link
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 IEP RGD PMID:22009485 RGD:6771327 NCBI chr 1:197,855,912...197,875,038 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 PMID:16123366, PMID:21216827, PMID:27222135, PMID:22009485 RGD:6892953, RGD:13782085, RGD:6771327 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
JBrowse link
G Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr10:59,528,849...59,560,440
Ensembl chr10:59,529,785...59,560,433
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta IEP protein:decreased expression:islet of Langerhans (rat) RGD PMID:21117707 RGD:13792619 NCBI chr 7:2,504,708...2,511,748
Ensembl chr 7:2,504,695...2,511,749
JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
JBrowse link
G Avp arginine vasopressin IEP protein:increased expression:hypothalamus RGD PMID:17940875 RGD:2301922 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
JBrowse link
G Axl Axl receptor tyrosine kinase ISO RGD PMID:10528229 RGD:2325834 NCBI chr 1:82,550,892...82,580,761
Ensembl chr 1:82,549,420...82,580,761
JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:serum RGD PMID:15127324 RGD:2311236 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Bace2 beta-secretase 2 treatment ISO RGD PMID:28337562 RGD:13782177 NCBI chr11:37,798,397...37,880,624
Ensembl chr11:37,798,370...37,880,821
JBrowse link
G Bad BCL2-associated agonist of cell death IEP RGD PMID:23032698 RGD:10053698 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:31626838, PMID:22543177 RGD:10054139 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16959961, PMID:31626838, PMID:23032698 RGD:10053698 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16959961 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Bcl2l11 BCL2 like 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 3:120,726,906...120,764,192
Ensembl chr 3:120,726,906...120,764,192
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:decreased expression:plasma RGD PMID:17151862 RGD:10059350 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Becn1 beclin 1 treatment IEP RGD PMID:21820301 RGD:11561956 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum: RGD PMID:15747054 RGD:7207410 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23665415 NCBI chr 2:23,236,573...23,256,158
Ensembl chr 2:23,236,575...23,256,158
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin no_association IAGP RGD PMID:12584444 RGD:1600600 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
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 chr14:18,231,854...18,270,621
Ensembl chr14:18,231,860...18,272,484
JBrowse link
G C2cd4a C2 calcium-dependent domain containing 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20818381 NCBI chr 8:73,671,516...73,686,344
Ensembl chr 8:73,672,295...73,673,317
JBrowse link
G C2cd4b C2 calcium-dependent domain containing 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20818381 NCBI chr 8:73,589,848...73,594,516
Ensembl chr 8:73,593,310...73,594,332
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20504758 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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 chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
JBrowse link
G Cadm2 cell adhesion molecule 2 ISO DNA:SNP: :rs13078807 (human) RGD PMID:28401323 RGD:15092076 NCBI chr11:4,175,078...4,397,335
Ensembl chr11:4,174,881...4,397,361
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 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Calm1 calmodulin 1 IEP mRNA:decreased expression:heart RGD PMID:21216827 RGD:6892953 NCBI chr 6:124,217,241...124,225,292
Ensembl chr 6:124,217,241...124,225,292
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
PMID:11017071, PMID:11481585, PMID:12107250, PMID:12161543, PMID:14574648, PMID:14602801, PMID:15240652, PMID:23349674, PMID:19688040, PMID:18554168, PMID:20406624, PMID:22012129, PMID:16721485, PMID:14658759, PMID:14646187 RGD:4107074, RGD:7247735, RGD:7247734, RGD:7247733, RGD:1625049, RGD:737693, RGD:1625063 NCBI chr 9:100,104,000...100,112,833
Ensembl chr 9:100,104,000...100,112,832
JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Diabetes mellitus type 2 ClinVar PMID:7720071, PMID:8624690, PMID:9150160, PMID:9642272, PMID:10102422, PMID:10330340, PMID:15221789, PMID:16141003, PMID:16627476, PMID:16650086, PMID:19156839, PMID:26467025, PMID:27066545, PMID:27708273, PMID:28492532, PMID:30311386 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
G Cartpt CART prepropeptide IEP protein:increased expression:pancreatic B cell RGD PMID:16443761 RGD:2313632 NCBI chr 2:30,125,249...30,127,408
Ensembl chr 2:30,125,249...30,127,269
JBrowse link
G Casp12 caspase 12 IEP RGD PMID:23032698 RGD:10053698 NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
JBrowse link
G Casp3 caspase 3 ISO protein:increased activity:pancreatic B cell
CTD Direct Evidence: marker/mechanism
CTD PMID:15531508, PMID:19100955 RGD:2311446 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp7 caspase 7 IEP RGD PMID:23032698 RGD:10053698 NCBI chr 1:277,190,557...277,242,779
Ensembl chr 1:277,190,964...277,242,774
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15531508, PMID:17563067 RGD:2311429 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Casp9 caspase 9 ISO DNA:SNP (human) RGD PMID:16038259 RGD:2311246 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
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 chr13:90,592,676...90,602,365
Ensembl chr13:90,592,681...90,602,365
JBrowse link
G Cat catalase ISO protein:decreased activity:plasma:
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:15111504, PMID:15531508, PMID:12357295 RGD:9068922 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cbs cystathionine beta synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23665415 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Ccdc92 coiled-coil domain containing 92 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr12:37,210,735...37,237,848
Ensembl chr12:37,211,316...37,237,848
JBrowse link
G Cckar cholecystokinin A receptor IAGP DNA:deletion RGD PMID:16815799 RGD:1625200 NCBI chr14:59,610,939...59,619,786
Ensembl chr14:59,611,434...59,619,783
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased expression:serum RGD PMID:17966842 RGD:2307064 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccn2 cellular communication network factor 2 IEP mRNA, protein:increased expression:left ventricle (rat) RGD PMID:19902320 RGD:2314357 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24464100 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:monocyte RGD PMID:16631114 RGD:2313561
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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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 PMID:31626838, PMID:16952981, PMID:12479587, PMID:20134099, PMID:7544802, PMID:15221799, PMID:16911630, PMID:17127041 RGD:2307212, RGD:11040908, RGD:6893499, RGD:2307219, RGD:2307218, RGD:2307213, RGD:2307211 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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 chr14:71,714,768...71,754,990
Ensembl chr14:71,715,269...71,754,672
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:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
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 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
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
PMID:17460697, PMID:17463246, PMID:17463248, PMID:17463249, PMID:23104008, PMID:23202124, PMID:24760768, PMID:19401414, PMID:18991055, PMID:18633108 RGD:2313941, RGD:2313947, RGD:2313949 NCBI chr17:36,451,031...37,157,882
Ensembl chr17:36,451,058...37,295,069
JBrowse link
G Cdo1 cysteine dioxygenase type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23665415 NCBI chr18:40,702,027...40,716,901
Ensembl chr18:40,701,984...40,716,686
JBrowse link
G Cel carboxyl ester lipase ISO DNA:deletion:exon RGD PMID:16369531 RGD:2313964 NCBI chr 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:plasma (human) RGD PMID:21143859 RGD:4892628 NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
JBrowse link
G Cisd2 CDGSH iron sulfur domain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 2:240,586,754...240,611,560
Ensembl chr 2:240,586,754...240,611,560
JBrowse link
G Clps colipase susceptibility ISO DNA:polymorphism:exon:p.R109C (human) RGD PMID:16189801 RGD:2314627 NCBI chr20:5,803,447...5,806,107
Ensembl chr20:5,803,383...5,806,097
JBrowse link
G Cmip c-Maf-inducing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr19:49,792,273...50,000,535
Ensembl chr19:49,792,273...50,000,535
JBrowse link
G Cnksr2 connector enhancer of kinase suppressor of Ras 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr  X:39,711,001...39,953,860
Ensembl chr  X:39,711,201...39,951,847
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO RGD PMID:18678611 RGD:2314632 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
JBrowse link
G Col3a1 collagen type III alpha 1 chain IEP RGD PMID:20836762 RGD:7257556 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Cp ceruloplasmin ISO protein:increased expression:serum RGD PMID:19834873 RGD:2314681 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Cpb2 carboxypeptidase B2 ISO protein:increased expression, increased activity:plasma RGD PMID:11836301 RGD:2313645 NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
JBrowse link
G Cpe carboxypeptidase E onset
no_association
ISO RGD PMID:11462236, PMID:9662053 RGD:1626183, RGD:1626184 NCBI chr16:26,906,716...27,014,811
Ensembl chr16:26,906,716...27,014,813
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16123366, PMID:19553925 RGD:2311344 NCBI chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 IEP mRNA:decreased expression:hypothalamus (rat) RGD PMID:20472052 RGD:5507823 NCBI chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645
JBrowse link
G Crp C-reactive protein ISO RGD PMID:16764962 RGD:9491772 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 treatment IMP RGD PMID:23595987, PMID:19706791 RGD:9685169, RGD:9685172 NCBI chr 2:189,615,928...189,625,646
Ensembl chr 2:189,615,948...189,626,051
JBrowse link
G Cst3 cystatin C ISO protein:increased expression:serum (human) RGD PMID:19887833 RGD:2314295 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Ctf1 cardiotrophin 1 ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr 1:199,162,319...199,168,296
Ensembl chr 1:199,163,086...199,168,296
JBrowse link
G Ctsb cathepsin B ISO mRNA:decreased expression:pancreatic islet (human) RGD PMID:19367387 RGD:2315527 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
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 chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:19187771 RGD:2311356 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO protein:increased expression:plasma RGD PMID:18451752 RGD:2306553 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
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 PMID:15504981 RGD:2315647 NCBI chr 8:94,693,273...94,757,989
Ensembl chr 8:94,693,290...94,757,988
JBrowse link
G Cyba cytochrome b-245 alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:15531508 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
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 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
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 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
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 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22244987 NCBI chr 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301
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 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22244987 NCBI chr12:11,641,500...11,677,818
Ensembl chr12:11,655,402...11,733,136
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 chr12:11,053,888...11,082,742
Ensembl chr12:11,655,402...11,733,136
JBrowse link
G Dag1 dystroglycan 1 IEP protein:decreased expression:skeletal muscle RGD PMID:16323284 RGD:1581689 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Dcn decorin ISO protein:increased expression:plasma RGD PMID:18414424 RGD:2311410 NCBI chr 7:38,742,250...38,782,282
Ensembl chr 7:38,742,051...38,782,323
JBrowse link
G Dcx doublecortin IEP protein:decreased expression:dentate gyrus RGD PMID:18982449 RGD:12904763 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G Defb1 defensin beta 1 IEP RGD PMID:14521940 RGD:4892271 NCBI chr16:75,294,385...75,309,127
Ensembl chr16:75,294,376...75,309,176
JBrowse link
G Dgkd diacylglycerol kinase, delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr 9:94,980,328...95,071,531
Ensembl chr 9:94,980,409...95,069,714
JBrowse link
G Dio2 iodothyronine deiodinase 2 no_association ISO DNA:SNP: :rs225014, p.T92A (human) RGD PMID:17077128 RGD:1626439 NCBI chr 6:114,475,156...114,489,443
Ensembl chr 6:114,476,142...114,476,723
JBrowse link
G Dnm1l dynamin 1-like treatment IEP RGD PMID:21820301 RGD:11561956 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Dnmt1 DNA methyltransferase 1 IEP mRNA:increased expression:liver: RGD PMID:21818837 RGD:7207079 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Dpp4 dipeptidylpeptidase 4 ISO RGD PMID:19705345 RGD:2313700 NCBI chr 3:48,291,055...48,372,672
Ensembl chr 3:48,291,055...48,372,672
JBrowse link
G Drd2 dopamine receptor D2 ISO DNA:polymorphism:exon:32806C>T (human) RGD PMID:18834717 RGD:2311601 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Diabetes mellitus type 2 ClinVar PMID:25741868, PMID:30311386 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16387788 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
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 PMID:16387788, PMID:19581418, PMID:19286964 RGD:2313278, RGD:2313280 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Ednra endothelin receptor type A IEP
ISO
protein:increased expression:mesenteric artery
CTD Direct Evidence: marker/mechanism
CTD PMID:16387788, PMID:19286964 RGD:2313280 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G Ednrb endothelin receptor type B IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16387788, PMID:19286964 RGD:2313280 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22238402 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eif3f eukaryotic translation initiation factor 3, subunit F IEP RGD PMID:12875716 RGD:10755506 NCBI chr 1:173,532,826...173,541,806
Ensembl chr 1:173,532,803...173,541,847
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO NIDDM,OMIM:125853;DNA:polymorphism OMIM PMID:16025115 RGD:1601042 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
G Ep300 E1A binding protein p300 ISO protein:increased serine phosphorylation:renal glomerulus (mouse) RGD PMID:23737551 RGD:7257568 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Epas1 endothelial PAS domain protein 1 IEP RGD PMID:17914354 RGD:10395377 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Epc2 enhancer of polycomb homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr 3:33,641,616...33,741,219
Ensembl chr 3:33,641,616...33,740,461
JBrowse link
G Epo erythropoietin ISO mRNA:increased expression:retina
protein:decreased expression:plasma
RGD PMID:16936148, PMID:16911620 RGD:2313840, RGD:2313842 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Esrra estrogen related receptor, alpha no_association ISO RGD PMID:16755280 RGD:1625637 NCBI chr 1:222,168,729...222,178,842
Ensembl chr 1:222,168,730...222,178,725
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO protein:increased expression:nucleus
CTD Direct Evidence: marker/mechanism
CTD PMID:30718926, PMID:19225563, PMID:19225563 RGD:2313847, RGD:2313847 NCBI chr 8:33,756,634...33,879,625
Ensembl chr 8:33,816,386...33,879,625
JBrowse link
G F12 coagulation factor XII ISO protein:increased activity:plasma (human) RGD PMID:7974333 RGD:2312416 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
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 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased activity:plasma RGD PMID:17785358 RGD:2312381 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
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, PMID:18000605, PMID:15860378 RGD:2312388, RGD:2312386, RGD:2312394, RGD:2312382, RGD:2312381, RGD:2312380, RGD:2312383 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G F8 coagulation factor VIII ISO protein:increased activity:plasma (human) RGD PMID:7974333 RGD:2312416 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G F9 coagulation factor IX ISO protein:increased activity:plasma (human) RGD PMID:7974333 RGD:2312416 NCBI chr  X:143,097,507...143,141,791
Ensembl chr  X:143,097,525...143,141,794
JBrowse link
G Fabp2 fatty acid binding protein 2 no_association ISO RGD PMID:16919542 RGD:1626401 NCBI chr 2:227,080,912...227,083,654
Ensembl chr 2:227,080,924...227,083,501
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 5:148,528,854...148,535,597
Ensembl chr 5:148,528,725...148,535,565
JBrowse link
G Fam234a family with sequence similarity 234, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO DNA:repeats:3' utr (human) RGD PMID:16691186 RGD:2315750 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fbn1 fibrillin 1 IEP RGD PMID:20836762 RGD:7257556 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fem1b fem-1 homolog B ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr 8:67,695,041...67,708,313
Ensembl chr 8:67,694,904...67,708,304
JBrowse link
G Ffar1 free fatty acid receptor 1 ISO RGD PMID:19208915, PMID:19758793 RGD:2316010, RGD:2315761 NCBI chr 1:89,308,475...89,309,379
Ensembl chr 1:89,308,475...89,309,379
JBrowse link
G Fga fibrinogen alpha chain ISO protein:increased activity:plasma (human) RGD PMID:7974333 RGD:2312416 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fgb fibrinogen beta chain ISO protein:increased expression:plasma RGD PMID:7974333 RGD:2312416 NCBI chr 2:182,028,044...182,035,026
Ensembl chr 2:182,027,115...182,038,178
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:serum RGD PMID:18279437 RGD:2315844 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fgf21 fibroblast growth factor 21 treatment ISO CTD Direct Evidence: therapeutic CTD PMID:26797127, PMID:21293445 RGD:10401914 NCBI chr 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:22174314 RGD:10401888 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgg fibrinogen gamma chain ISO protein:increased activity:plasma (human) RGD PMID:7974333 RGD:2312416 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO mRNA, protein:decreased expression:skeletal muscle RGD PMID:17823371 RGD:2313719 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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 3:142,383,084...142,387,493
Ensembl chr 3:142,383,278...142,387,481
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 chr19:53,044,379...53,047,081
Ensembl chr19:53,044,379...53,047,081
JBrowse link
G Foxm1 forkhead box M1 ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr 4:161,685,236...161,697,633
Ensembl chr 4:161,685,258...161,696,305
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 2:141,451,234...141,527,016
Ensembl chr 2:141,451,234...141,527,016
JBrowse link
G Frzb frizzled-related protein ISO protein, decreased expression:skeletal muscle, serum (human) RGD PMID:28240822 RGD:32716394 NCBI chr 3:67,635,604...67,668,772
Ensembl chr 3:67,635,607...67,668,772
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104008 NCBI chr19:16,774,549...17,115,098
Ensembl chr19:16,772,744...17,115,113
JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO protein:increased activity:serum RGD PMID:16176171 RGD:2315931 NCBI chr 5:154,269,296...154,286,545
Ensembl chr 5:154,269,118...154,286,544
JBrowse link
G Fxn frataxin no_association ISO DNA:repeats:intron:GAA (human) RGD PMID:10102715, PMID:9588463 RGD:2307051, RGD:2307050 NCBI chr 1:242,123,975...242,152,834
Ensembl chr 1:242,123,975...242,152,834
JBrowse link
G G6pc glucose-6-phosphatase, catalytic subunit ISO
IDA
protein:increased activity:liver RGD PMID:8865366, PMID:10866049, PMID:16396963 RGD:728661, RGD:2315966, RGD:2315959 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO protein:decreased expression:reticulocyte, erythrocyte RGD PMID:12853069 RGD:2307349 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gadd45gip1 GADD45G interacting protein 1 ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr19:25,946,979...25,949,528
Ensembl chr19:25,946,979...25,949,528
JBrowse link
G Gal galanin and GMAP prepropeptide ISO protein:increased expression:blood RGD PMID:15735230 RGD:2313738 NCBI chr 1:218,653,059...218,657,922
Ensembl chr 1:218,652,917...218,657,925
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO protein:decreased acetylation RGD PMID:28258188 RGD:13792662 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:23466488 NCBI chr 3:48,442,635...48,451,650
Ensembl chr 3:48,442,635...48,451,650
JBrowse link
G Gcgr glucagon receptor ISO DNA:mutation:exon:G40S
ClinVar Annotator: match by term: Diabetes mellitus type 2
ClinVar PMID:7773293, PMID:8563746, PMID:28492532, PMID:7773293 RGD:1625208 NCBI chr10:109,707,863...109,716,253
Ensembl chr10:109,707,962...109,716,128
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: 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
PMID:1360036, PMID:1397713, PMID:8094163, PMID:8094164, PMID:8433729, PMID:9049484, PMID:15102714, PMID:15161764, PMID:15841481, PMID:16123366, PMID:17573900, PMID:18271687, PMID:20081858, PMID:26467025, PMID:8200206, PMID:22234649, PMID:8325445, PMID:15138155, PMID:1570017, PMID:8314445 RGD:2301887, RGD:7488969, RGD:2301889, RGD:1582633, RGD:1601292, RGD:2301883 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Gckr glucokinase regulator ISO DNA:polymorphism: :rs780094 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP::rs1260326(human)
CTD PMID:20081858, PMID:19241058, PMID:21411509, PMID:11473043, PMID:18556336 RGD:2315983, RGD:7242280, RGD:2315986, RGD:2315985 NCBI chr 6:26,355,296...26,385,761
Ensembl chr 6:26,355,296...26,385,761
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO CTD Direct Evidence: therapeutic CTD PMID:32715377 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO CTD Direct Evidence: therapeutic CTD PMID:32715377 NCBI chr 2:225,827,504...225,847,876
Ensembl chr 2:225,827,504...225,847,874
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO RGD PMID:17574229 RGD:2313352 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
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 chr10:35,279,237...35,325,506
Ensembl chr10:35,279,236...35,325,508
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO RGD PMID:19936701 RGD:2315593 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Gh1 growth hormone 1 treatment IEP RGD PMID:26379831 RGD:11352744 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghr growth hormone receptor ISO DNA:deletion:exon (human) RGD PMID:17537658 RGD:2307363 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide susceptibility ISO DNA:polymorphism: :p.L72M (human) RGD PMID:18848536 RGD:2313749 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
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 chr10:83,835,080...83,848,399
Ensembl chr10:83,840,303...83,848,396
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 1:80,063,047...80,073,223
Ensembl chr 1:80,063,049...80,073,223
JBrowse link
G Gja1 gap junction protein, alpha 1 IEP protein:increased phosphorylation:kidney RGD PMID:21573906 RGD:7207393 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Glis3 GLIS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158537 NCBI chr 1:246,380,816...246,564,385
Ensembl chr 1:246,380,889...246,785,360
JBrowse link
G Glo1 glyoxalase 1 ISO DNA:point mutation: :c.332A>C (human) RGD PMID:18413187 RGD:7242567 NCBI chr20:9,273,589...9,291,608
Ensembl chr20:9,273,594...9,291,610
JBrowse link
G Glp1r glucagon-like peptide 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr20:9,586,075...9,626,228
Ensembl chr20:9,586,075...9,626,228
JBrowse link
G Gnb3 G protein subunit beta 3 ISO DNA:polymorphism: :825C>T (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12511541, PMID:18656447 RGD:2313204 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
JBrowse link
G Gp2 glycoprotein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr 1:189,166,735...189,182,306
Ensembl chr 1:189,166,399...189,182,306
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 3:43,223,892...43,359,069
Ensembl chr 3:43,255,567...43,359,074
JBrowse link
G Gpt glutamic--pyruvic transaminase IEP protein:increased expression, activity:liver: RGD PMID:25865565 RGD:11342811 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 IEP protein:increased expression, activity:liver: RGD PMID:25865565 RGD:11342811 NCBI chr19:22,599,003...22,633,529
Ensembl chr19:22,590,881...22,632,071
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366, PMID:23795780 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:decreased expression:plasma (human) RGD PMID:18936159 RGD:2312632 NCBI chr10:40,247,436...40,255,423
Ensembl chr10:40,247,436...40,255,422
JBrowse link
G Grb14 growth factor receptor bound protein 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21874001 NCBI chr 3:50,937,403...51,054,447
Ensembl chr 3:50,937,669...51,054,378
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment ISO
IEP
RGD PMID:20821187, PMID:27164497 RGD:10045562, RGD:13792739 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Gstm1 glutathione S-transferase mu 1 no_association
susceptibility
ISO CTD Direct Evidence: marker/mechanism
DNA:deletion: :
CTD PMID:22652274, PMID:16413497, PMID:20739761, PMID:17979505 RGD:2306628, RGD:5490963, RGD:2306627 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:17979505 RGD:2306627 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16632892 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased activity:kidney: RGD PMID:19553350 RGD:9590229 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased activity:kidney: RGD PMID:19553350 RGD:9590229 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO DNA:missense mutation:cds:p.H63D (human)
ClinVar Annotator: match by term: Type 2 diabetes
associated with cystic fibrosis;DNA:missense mutation: :p.C282Y (human)
ClinVar PMID:8696333, PMID:8896550, PMID:8943161, PMID:9106528, PMID:9162021, PMID:9356458, PMID:9462220, PMID:11358905, PMID:11399207, PMID:11423500, PMID:11479183, PMID:11532995, PMID:11812557, PMID:11874997, PMID:11904676, PMID:12429850, PMID:12885340, PMID:14673107, PMID:15347835, PMID:15858186, PMID:16132052, PMID:17600748, PMID:18199861, PMID:18566337, PMID:19159930, PMID:19554541, PMID:20301613, PMID:24033266, PMID:24729993, PMID:25741868, PMID:26365338, PMID:28443246, PMID:28492532, PMID:28617828, PMID:30291871, PMID:30311386, PMID:31220083, PMID:20097100, PMID:30291871 RGD:8694381, RGD:14701045 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hhex hematopoietically expressed homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:23104008 NCBI chr 1:256,101,994...256,107,581
Ensembl chr 1:256,101,903...256,107,649
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 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hk1 hexokinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
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 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Hmg20a high mobility group 20A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21874001 NCBI chr 8:61,080,103...61,157,613
Ensembl chr 8:61,080,103...61,157,611
JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
PMID:23512162 NCBI chr20:7,132,501...7,140,155
Ensembl chr20:7,136,007...7,138,980
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 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO
IEP
DNA:repeat:promoter
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Obesity
CTD PMID:12136229, PMID:16123366, PMID:16959961, PMID:17991645, PMID:23731386 RGD:10755699, RGD:8695927 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hnf1a HNF1 homeobox A susceptibility
onset
ISO DNA:deletions:exon:multiple
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
PMID:18003757, PMID:20705777, PMID:24097065, PMID:24915262, PMID:25555642, PMID:25741868, PMID:26059258, PMID:26431509, PMID:26467025, PMID:27458973, PMID:27899486, PMID:28492532, PMID:28869590, PMID:29376044, PMID:17828387, PMID:18332101, PMID:18003757, PMID:8945470 RGD:2301828, RGD:2301863, RGD:2301827, RGD:1601479 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
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
PMID:12161522, PMID:17603485, PMID:20378641, PMID:25536396, PMID:25700310, PMID:25741868, PMID:11317673, PMID:15883474, PMID:19417042 RGD:1601484, RGD:2312750, RGD:2312748 NCBI chr10:71,159,863...71,218,902
Ensembl chr10:71,159,869...71,218,902
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
PMID:9449683, PMID:15281001, PMID:17317762, PMID:18414213, PMID:21874001, PMID:22158537, PMID:25041077, PMID:25741868, PMID:26467025, PMID:27080136, PMID:27420379, PMID:18728231, PMID:19252740, PMID:19179483, PMID:18332101, PMID:18028455, PMID:8945471 RGD:2301836, RGD:12904770, RGD:12904769, RGD:2301863, RGD:2301839, RGD:1601637 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Hp haptoglobin treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16506275, PMID:19996384 RGD:6483015 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Hpx hemopexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16506275 NCBI chr 1:170,423,558...170,431,066
Ensembl chr 1:170,423,483...170,431,073
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 chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO mRNA, protein:increased expression:skeletal muscle RGD PMID:17519316 RGD:2308922 NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
JBrowse link
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 IEP mRNA:decreased expression:testis, Leydig cell (rat) RGD PMID:18481435 RGD:4889107 NCBI chr17:1,579,319...1,610,745
Ensembl chr17:1,579,319...1,610,745
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
G Hsf1 heat shock transcription factor 1 ISO protein:increased expression:heart (mouse) RGD PMID:24496227 RGD:10402557 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
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 chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815
JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 ISO protein:increased expression:serum (human) RGD PMID:22349026 RGD:6218966 NCBI chr10:38,601,624...38,642,397
Ensembl chr10:38,601,624...38,642,397
JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr  X:118,084,520...118,318,040
Ensembl chr  X:118,084,890...118,318,039
JBrowse link
G Iapp islet amyloid polypeptide ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:pancreatic islet (human)
CTD PMID:16123366, PMID:23793354, PMID:18641056, PMID:19100955, PMID:2441214 RGD:2313359, RGD:2311446, RGD:9686128 NCBI chr 4:176,509,863...176,517,903
Ensembl chr 4:176,510,696...176,516,083
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 PMID:24513509, PMID:20388520, PMID:18299691 RGD:4145422, RGD:2312766 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Id1 inhibitor of DNA binding 1, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr 3:148,214,623...148,216,715
Ensembl chr 3:148,215,540...148,216,718
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 1:255,914,465...256,014,168
Ensembl chr 1:255,914,447...256,013,495
JBrowse link
G Ifng interferon gamma ISO RGD PMID:18852529 RGD:2311491 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf1 insulin-like growth factor 1 IEP
ISO
RGD PMID:18986336, PMID:16005252 RGD:2306690, RGD:2313767 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 ISO OMIM NCBI chr11:82,466,071...82,621,105
Ensembl chr11:82,466,071...82,621,079
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 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:16005252 RGD:2313767 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO RGD PMID:15685173 RGD:10045952 NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr  X:122,724,081...122,783,801
Ensembl chr  X:122,724,129...122,781,479
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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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)
ClinVar PMID:9769329, PMID:10720087, PMID:11001912, PMID:11889177, PMID:12519862, PMID:12560873, PMID:12719374, PMID:15070960, PMID:15331795, PMID:15472205, PMID:16150725, PMID:16278864, PMID:17623760, PMID:19084046, PMID:28303994, PMID:19175895, PMID:18573122 RGD:2307269, RGD:14975285, RGD:2307266, RGD:2307270 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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 PMID:12086927, PMID:25635986, PMID:15220217, PMID:12086927 RGD:1626127, RGD:633161 NCBI chr 1:166,898,177...166,912,524
Ensembl chr 1:166,899,894...166,912,524
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:3511099, PMID:7573102, PMID:11522680, PMID:11978674, PMID:15531508, PMID:16259526, PMID:16519038, PMID:21680998, PMID:21779873, PMID:23349674, PMID:1569197, PMID:3322910 RGD:1625120, RGD:2311112 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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 PMID:1607076, PMID:1845971, PMID:2884728, PMID:4413914, PMID:7814014, PMID:8432414, PMID:8900242, PMID:10084586, PMID:11463381, PMID:25741868, PMID:27896077, PMID:28492532, PMID:19251743, PMID:19017805, PMID:23700236, PMID:18972094, PMID:17855644, PMID:19224872, PMID:17050616, PMID:19340286, PMID:19251743 RGD:2307334, RGD:2314405, RGD:10403046, RGD:2307342, RGD:2290475, RGD:2307335, RGD:2307341, RGD:2307333, RGD:2307334 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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
PMID:8104271, PMID:8723689, PMID:10430617, PMID:11775217, PMID:12679424, PMID:15688983, PMID:19734900, PMID:24033266, PMID:25741868, PMID:28869590, PMID:12679424, PMID:14633864, PMID:22001674, PMID:19996384, PMID:15561966 RGD:1624975, RGD:7207057, RGD:6483016, RGD:6483015, RGD:6482863 NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
JBrowse link
G Irs2 insulin receptor substrate 2 ISO DNA:polymorphism:exon:G1057D OMIM PMID:11030756, PMID:14617753 RGD:1625023, RGD:10045938 NCBI chr16:83,824,515...83,848,569
Ensembl chr16:83,824,430...83,848,684
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 2:48,488,911...48,501,217
Ensembl chr 2:48,487,736...48,501,436
JBrowse link
G Itga1 integrin subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr 2:47,127,403...47,281,387
Ensembl chr 2:47,127,219...47,281,421
JBrowse link
G Itga2 integrin subunit alpha 2 ISO protein:increased expression:platelet (human) RGD PMID:15025679 RGD:2307425 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itln1 intelectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23555749 NCBI chr13:89,919,570...89,929,774
Ensembl chr13:89,919,667...89,929,770
JBrowse link
G Jade2 jade family PHD finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr10:37,269,132...37,315,638
Ensembl chr10:37,270,183...37,311,625
JBrowse link
G Jazf1 JAZF zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18372903 NCBI chr 4:82,834,181...83,141,430
Ensembl chr 4:82,836,260...83,137,527
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
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
PMID:16123366, PMID:22209866, PMID:25741868, PMID:15565284, PMID:24681897, PMID:17259403, PMID:19502414, PMID:19498446 RGD:2313610, RGD:12790969, RGD:2313628, RGD:2311533, RGD:2311534 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
G Kcnk16 potassium two pore domain channel subfamily K member 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158537 NCBI chr15:4,474,732...4,482,196
Ensembl chr15:4,475,051...4,482,194
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 chr10:18,910,586...18,922,856
Ensembl chr10:18,906,010...18,919,639
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 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Kcnu1 potassium calcium-activated channel subfamily U member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr16:70,913,825...70,998,593
Ensembl chr16:70,913,817...70,998,575
JBrowse link
G Kdr kinase insert domain receptor ISO protein:decreased expression:skin, blood vessel RGD PMID:17898089 RGD:5684411 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Kl Klotho IEP
ISO
mRNA:decreased expression:kidney:
CTD Direct Evidence: marker/mechanism
CTD PMID:28869590, PMID:23967103 RGD:10044235 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
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 6:43,829,812...43,841,649
Ensembl chr 6:43,829,945...43,841,651
JBrowse link
G Klf14 Kruppel-like factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29632379 NCBI chr 4:58,247,876...58,250,798
Ensembl chr 4:58,247,876...58,250,798
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO RGD PMID:23826075 RGD:9588237 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Ksr2 kinase suppressor of ras 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr12:44,531,376...44,911,835
Ensembl chr12:44,536,293...44,911,147
JBrowse link
G Lep leptin susceptibility IMP
ISO
DNA:SNP,haplotype:promoter,3'utr: -632G>A, +4998A>C (human)
CTD Direct Evidence: therapeutic
CTD PMID:15070752, PMID:19289493, PMID:18564365 RGD:2311130, RGD:2311139 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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 PMID:20175764, PMID:22933112, PMID:24263156, PMID:26939912, PMID:17065694, PMID:22215535, PMID:23154293, PMID:16284652, PMID:18439701 RGD:2311144, RGD:14696694, RGD:13432147, RGD:10412018, RGD:2311141 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
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)
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma (human)
CTD
OMIM
PMID:15126514, PMID:15656877, PMID:15656877, PMID:16429317 RGD:2308830, RGD:2308826 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lipe lipase E, hormone sensitive type ISO mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:15609025 RGD:2313584 NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
JBrowse link
G Lmna lamin A/C no_association ISO DNA:SNPs RGD PMID:17327461, PMID:17327437 RGD:1624984, RGD:1624985 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lnpep leucyl and cystinyl aminopeptidase ISO
IDA
RGD PMID:11701721, PMID:16967782 RGD:2311542, RGD:2306436 NCBI chr 1:59,289,392...59,384,540
Ensembl chr 1:59,297,294...59,347,472
Ensembl chr 1:59,297,294...59,347,472
JBrowse link
G LOC681241 hypothetical protein LOC681241 ISO ClinVar Annotator: match by term: Diabetes mellitus type 2 ClinVar NCBI chr17:86,227,106...86,322,177
Ensembl chr17:86,239,087...86,322,144
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 chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
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 chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Madd MAP-kinase activating death domain ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr 3:79,960,301...80,003,023
Ensembl chr 3:79,960,301...80,003,032
JBrowse link
G Maea macrophage erythroblast attacher, E3 ubiquitin ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158537 NCBI chr14:82,664,248...82,697,673
Ensembl chr14:82,664,249...82,697,673
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 PMID:24013263, PMID:20424231 RGD:13506742, RGD:13506745 NCBI chr 7:116,779,368...116,781,815
Ensembl chr 7:116,780,681...116,781,766
JBrowse link
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Diabetes mellitus type 2 ClinVar PMID:29738522, PMID:30311386 NCBI chr 2:29,675,391...29,768,750
Ensembl chr 2:29,675,391...29,768,750
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha treatment IEP RGD PMID:21820301 RGD:11561956 NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
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 chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
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 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
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 chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 ISO OMIM NCBI chr 3:81,295,023...81,304,181
Ensembl chr 3:81,295,024...81,304,181
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 chr10:35,333,859...35,374,364
Ensembl chr10:35,333,859...35,374,355
JBrowse link
G Mat1a methionine adenosyltransferase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23665415 NCBI chr16:18,690,649...18,709,135
Ensembl chr16:18,690,246...18,709,133
JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: Diabetes mellitus type 2 ClinVar NCBI chr 3:160,838,632...160,853,650
Ensembl chr 3:160,838,632...160,853,650
JBrowse link
G Mfn2 mitofusin 2 ISO mRNA:decreased expression:skeletal muscle tissue (human) RGD PMID:16123358 RGD:13204820 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mif macrophage migration inhibitory factor IEP mRNA, protein:increased expression:kidney cortex, epithelial cell RGD PMID:16571782 RGD:1641984 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Mir10b microRNA 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 3:61,647,978...61,648,086
Ensembl chr 3:61,647,978...61,648,086
JBrowse link
G Mir122 microRNA 122 ISO miRNA:increased expression:serum RGD PMID:27899485 RGD:14401601 NCBI chr18:60,755,285...60,755,369 JBrowse link
G Mir1249 microRNA 1249 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 7:125,861,192...125,861,311
Ensembl chr 7:125,861,192...125,861,311
JBrowse link
G Mir125b1 microRNA 125b-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr 8:45,798,260...45,798,346
Ensembl chr 8:45,798,260...45,798,346
JBrowse link
G Mir126b microRNA 126b ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr 3:4,042,488...4,042,560 JBrowse link
G Mir127 microRNA 127 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 6:133,713,430...133,713,526
Ensembl chr 6:133,713,430...133,713,526
JBrowse link
G Mir1306 microRNA 1306 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr11:86,857,633...86,857,705
Ensembl chr11:86,857,632...86,857,711
JBrowse link
G Mir130b microRNA 130b ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
JBrowse link
G Mir140 microRNA 140 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr19:39,608,951...39,609,049
Ensembl chr19:39,608,951...39,609,049
JBrowse link
G Mir141 microRNA 141 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 4:157,236,346...157,236,439
Ensembl chr 4:157,236,346...157,236,439
JBrowse link
G Mir142 microRNA 142 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr10:75,050,839...75,050,925
Ensembl chr10:75,050,832...75,050,942
JBrowse link
G Mir144 microRNA 144 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr10:65,291,365...65,291,447
Ensembl chr10:65,291,365...65,291,447
JBrowse link
G Mir146b microRNA 146b ISO RNA:increased expression:arteriole RGD PMID:29374012 RGD:13702880 NCBI chr 1:266,089,488...266,089,575
Ensembl chr 1:266,089,488...266,089,575
JBrowse link
G Mir151 microRNA 151 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 7:114,485,547...114,485,643 JBrowse link
G Mir155 microRNA 155 ISO miRNA:decreased expression:serum RGD PMID:30852102, PMID:27711113 RGD:21079478, RGD:25671464 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir181c microRNA 181c ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr19:25,290,211...25,290,316
Ensembl chr19:25,290,211...25,290,316
JBrowse link
G Mir192 microRNA 192 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr 1:221,634,971...221,635,080
Ensembl chr 1:221,634,971...221,635,080
JBrowse link
G Mir195 microRNA 195 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr10:56,845,301...56,845,387
Ensembl chr10:56,845,301...56,845,387
JBrowse link
G Mir200a microRNA 200a ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 5:173,489,366...173,489,454 JBrowse link
G Mir204 microRNA 204 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 1:240,403,000...240,403,109
Ensembl chr 1:240,403,000...240,403,109
JBrowse link
G Mir205 microRNA 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr13:112,233,283...112,233,390
Ensembl chr13:112,233,283...112,233,390
JBrowse link
G Mir221 microRNA 221 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr  X:3,684,480...3,684,588
Ensembl chr  X:3,684,480...3,684,588
JBrowse link
G Mir222 microRNA 222 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399, PMID:28545106 NCBI chr  X:3,683,919...3,684,021
Ensembl chr  X:3,683,919...3,684,021
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:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mir27a microRNA 27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr19:25,318,736...25,318,822
Ensembl chr19:25,318,736...25,318,822
JBrowse link
G Mir29a microRNA 29a ISO RNA:increased expression:arteriole RGD PMID:29374012 RGD:13702880 NCBI chr 4:58,343,931...58,344,018 JBrowse link
G Mir29b1 microRNA 29b-1 ISO RNA:increased expression:arteriole RGD PMID:29374012 RGD:13702880 NCBI chr 4:58,344,310...58,344,390
Ensembl chr 4:58,344,310...58,344,390
JBrowse link
G Mir30a microRNA 30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 9:29,542,635...29,542,705
Ensembl chr 9:29,542,635...29,542,705
JBrowse link
G Mir339 microRNA 339 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr12:17,369,002...17,369,097
Ensembl chr12:17,369,002...17,369,097
JBrowse link
G Mir375 microRNA 375 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 9:82,161,716...82,161,790
Ensembl chr 9:82,161,716...82,161,790
JBrowse link
G Mir377 microRNA 377 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 6:133,890,690...133,890,761
Ensembl chr 6:133,890,646...133,890,779
JBrowse link
G Mir409 microRNA 409 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 6:133,893,419...133,893,495 JBrowse link
G Mir423 microRNA 423 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr10:63,098,366...63,098,444
Ensembl chr10:63,098,360...63,098,453
JBrowse link
G Mir487b microRNA 487b ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 6:133,877,124...133,877,205
Ensembl chr 6:133,877,124...133,877,205
JBrowse link
G Mir532 microRNA 532 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478399 NCBI chr  X:16,109,870...16,109,948
Ensembl chr  X:16,109,870...16,109,948
JBrowse link
G Mir628 microRNA 628 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 8:79,679,458...79,679,541
Ensembl chr 8:79,679,458...79,679,541
JBrowse link
G Mir92b microRNA 92b ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr 2:188,541,034...188,541,116
Ensembl chr 2:188,541,034...188,541,116
JBrowse link
G Mir98 microRNA 98 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr  X:21,583,875...21,583,982
Ensembl chr  X:21,583,875...21,583,982
JBrowse link
G Mirlet7d microRNA let-7d ISO CTD Direct Evidence: marker/mechanism CTD PMID:28545106 NCBI chr17:16,419,980...16,420,077
Ensembl chr17:16,419,980...16,420,077
JBrowse link
G Mki67 marker of proliferation Ki-67 IEP protein:increased expression:hippocampus RGD PMID:20045412 RGD:2317709 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
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 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:plasma (human) RGD PMID:17320450 RGD:7207195 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IEP RGD PMID:23204894 RGD:8694120 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mok MOK protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23500658 NCBI chr 6:135,228,755...135,259,645
Ensembl chr 6:135,228,803...135,259,603
JBrowse link
G Mpst mercaptopyruvate sulfurtransferase IEP RGD PMID:20127051 RGD:5134362 NCBI chr 7:119,626,636...119,631,317
Ensembl chr 7:119,626,637...119,631,425
JBrowse link
G Mras muscle RAS oncogene homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 8:107,629,028...107,656,851
Ensembl chr 8:107,629,028...107,681,512
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 chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtnr1a melatonin receptor 1A IEP mRNA:increased expression:pancreas RGD PMID:16441550 RGD:2301037 NCBI chr16:50,339,358...50,358,809
Ensembl chr16:50,339,358...50,358,809
JBrowse link
G Mtnr1b melatonin receptor 1B ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
PMID:19060907, PMID:19060908, PMID:19060909, PMID:22286214, PMID:26551672, PMID:19060908 RGD:9588652 NCBI chr 8:14,359,270...14,373,894
Ensembl chr 8:14,359,270...14,373,894
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 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase IEP RGD PMID:21818837 RGD:7207079 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO protein:increased expression:serum RGD PMID:18410550 RGD:2311099 NCBI chr 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472
JBrowse link
G Ncoa6 nuclear receptor coactivator 6 IEP mRNA:decreased expression:pancreatic islet (rat) RGD PMID:16738321 RGD:9590126 NCBI chr 3:150,919,317...150,990,391
Ensembl chr 3:150,919,317...150,960,030
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
PMID:10545951, PMID:16123366, PMID:11719843, PMID:18331410, PMID:10545951, PMID:15592940, PMID:17440689, PMID:16773428 RGD:2313488, RGD:2313478, RGD:2313489, RGD:2313486, RGD:2313480, RGD:2313482 NCBI chr 3:66,414,314...66,417,617
Ensembl chr 3:66,414,308...66,417,741
JBrowse link
G Neurog3 neurogenin 3 ISO RGD PMID:17146417 RGD:2313775 NCBI chr20:31,761,419...31,762,893
Ensembl chr20:31,761,405...31,762,893
JBrowse link
G Nfatc2 nuclear factor of activated T-cells 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr 3:165,241,750...165,374,644
Ensembl chr 3:165,245,238...165,360,292
JBrowse link
G Nfe2l1 nuclear factor, erythroid 2-like 1 ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr10:84,686,762...84,699,313
Ensembl chr10:84,682,460...84,698,886
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment IEP RGD PMID:23954466 RGD:10412692 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17107852 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Nkx6-1 NK6 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr14:9,555,264...9,562,197
Ensembl chr14:9,555,264...9,562,189
JBrowse link
G Nog noggin IEP mRNA, protein:increased expression:aorta RGD PMID:21193740 RGD:10430114 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Nos1 nitric oxide synthase 1 IEP RGD PMID:16323284 RGD:1581689 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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 PMID:16959961, PMID:19395279, PMID:21963495, PMID:18773271 RGD:2312484, RGD:5508747, RGD:2313220 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:12716763, PMID:16959961, PMID:18356581 RGD:2292097 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18372903 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Nppa natriuretic peptide A ISO RGD PMID:19675071 RGD:2313586 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
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 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Npy neuropeptide Y ISO DNA:missense mutation:cds:p.L7P (human) RGD PMID:15926114 RGD:1580183 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 ISO DNA:polymorphisms: :multiple RGD PMID:18781616 RGD:2311604 NCBI chr 5:151,776,004...151,779,319
Ensembl chr 5:151,776,004...151,779,319
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 treatment IEP RGD PMID:23637135 RGD:10448992 NCBI chr10:86,683,875...86,690,815
Ensembl chr10:86,683,875...86,690,815
JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO RGD PMID:20939869 RGD:13506790 NCBI chr 1:100,554,577...100,559,896
Ensembl chr 1:100,554,544...100,559,942
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IDA RGD PMID:17292727 RGD:4892117 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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 1:185,106,773...185,143,278
Ensembl chr 1:185,104,656...185,143,272
JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr20:33,557,052...33,584,011
Ensembl chr20:33,557,052...33,584,010
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pancreatic islet, mitochondrion
CTD Direct Evidence: marker/mechanism
CTD PMID:22652274, PMID:12003641 RGD:2317133 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
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 2:53,859,738...54,007,733
Ensembl chr 2:53,859,737...54,007,756
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO RGD PMID:15483100 RGD:6480536 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
JBrowse link
G Pam peptidylglycine alpha-amidating monooxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24464100, PMID:30054598 NCBI chr 9:111,028,543...111,177,588
Ensembl chr 9:111,028,575...111,177,602
JBrowse link
G Pappa1 pappalysin 1 ISO protein:decreased expression:serum RGD PMID:17728480 RGD:2313776 NCBI chr 5:80,919,932...81,153,904
Ensembl chr 5:80,920,568...81,150,940
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 chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:15895395 RGD:11075068 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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
PMID:11723072, PMID:17426099, PMID:12604352 RGD:2311632, RGD:2311635 NCBI chr 4:55,735,640...55,753,461
Ensembl chr 4:55,735,682...55,740,627
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Pc pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
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 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
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 2:91,450,162...91,497,091
Ensembl chr 2:91,450,162...91,497,091
JBrowse link
G Pcsk2 proprotein convertase subtilisin/kexin type 2 ISO DNA:repeats:intron:IVS2CA (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16123366, PMID:7698505 RGD:2308936 NCBI chr 3:137,618,891...137,923,385
Ensembl chr 3:137,618,898...137,925,605
JBrowse link
G Pdcd1 programmed cell death 1 ISO protein:increased expression:kidney RGD PMID:23219834 RGD:7248672 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 no_association ISO
IEP
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, PMID:11315851, PMID:11914043, PMID:12970316, PMID:15001545, PMID:15170499, PMID:15277425, PMID:15754742, PMID:16123366, PMID:16741735, PMID:17592437, PMID:19515026, PMID:21569088, PMID:24097065, PMID:24464100, PMID:25741868, PMID:26058934, PMID:26467025, PMID:27879214, PMID:28492532, PMID:30930126, PMID:19371350, PMID:9637677, PMID:15170499, PMID:15734849, PMID:10545531, PMID:9075799, PMID:17764693 RGD:2311308, RGD:2311305, RGD:2311217, RGD:2311308, RGD:2311306, RGD:2311307, RGD:2311221, RGD:2311219 NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
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 chr10:94,850,971...94,913,202 JBrowse link
G Pepd peptidase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158537 NCBI chr 1:90,820,670...91,285,128 JBrowse link
G Phox2a paired-like homeobox 2a ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr 1:166,893,734...166,898,252
Ensembl chr 1:166,893,734...166,898,252
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Diabetes mellitus type 2 ClinVar PMID:30311386 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
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 1:185,210,922...185,326,314
Ensembl chr 1:185,210,922...185,326,314
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 4:173,732,196...174,102,502
Ensembl chr 4:173,732,248...174,102,496
JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta treatment ISO RGD PMID:11812753 RGD:13506799 NCBI chr 8:107,275,849...107,381,088
Ensembl chr 8:107,275,725...107,380,933
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:31626838 NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
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 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
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 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:22399516 RGD:6482782 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
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, PMID:15901895 RGD:2311670, RGD:1598920, RGD:2311665, RGD:2311672, RGD:2311675, RGD:2311673 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Plaur plasminogen activator, urokinase receptor onset ISO protein:increased expression:plasma RGD PMID:22050462 RGD:6483792 NCBI chr 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
JBrowse link
G Plekha1 pleckstrin homology domain containing A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 1:201,429,716...201,481,411
Ensembl chr 1:201,429,771...201,480,877
JBrowse link
G Pln phospholamban IEP mRNA:decreased expression:heart left ventricle RGD PMID:22621761 RGD:7327183 NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 ISO DNA:SNP: :rs738409 (p.I148M) (human) RGD PMID:31377187 RGD:14981594 NCBI chr 7:125,034,760...125,056,165
Ensembl chr 7:125,034,764...125,055,976
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 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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 4:30,344,705...30,380,119
Ensembl chr 4:30,344,709...30,380,119
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17317762, PMID:31626838 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO
ISS
DNA:SNPs
OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036
MouseDO PMID:16804087 RGD:1625186 NCBI chr20:7,818,289...7,883,482
Ensembl chr20:7,818,289...7,885,333
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
PMID:9467001, PMID:9792554, PMID:10523018, PMID:10622252, PMID:10851250, PMID:14671186, PMID:15254591, PMID:15592662, PMID:16123366, PMID:16249460, PMID:17317762, PMID:21484566, PMID:22461176, PMID:25157153, PMID:25741868, PMID:28182703, PMID:28492532, PMID:31626838, PMID:18394743, PMID:9918859, PMID:18598350, PMID:18776709 RGD:2301861, RGD:8552822, RGD:2301851, RGD:2301846 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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 PMID:15592662, PMID:17317762, PMID:18270681, PMID:17158179, PMID:22561641, PMID:22824914, PMID:12606537, PMID:18162502, PMID:23210442, PMID:23250358, PMID:23251491 RGD:2311391, RGD:10059689, RGD:7242175, RGD:7242067, RGD:7242043, RGD:7242032, RGD:7242009, RGD:7241851, RGD:7241849 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ppargc1b PPARG coactivator 1 beta no_association ISO DNA:polymorphism:exon:102605C>A RGD PMID:16759305 RGD:1642500 NCBI chr18:56,626,725...56,650,524
Ensembl chr18:56,626,712...56,728,968
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: 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)
OMIM
ClinVar
PMID:12118251, PMID:11793847, PMID:12831406, PMID:9653600, PMID:9726244, PMID:10389856, PMID:10868947 RGD:2311560, RGD:2311596, RGD:2311515, RGD:2311531, RGD:2311532, RGD:2311552 NCBI chr 4:41,171,486...41,212,116
Ensembl chr 4:41,171,486...41,212,072
JBrowse link
G Ppp1r3c protein phosphatase 1, regulatory subunit 3C ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr 1:255,371,830...255,376,833
Ensembl chr 1:255,371,810...255,376,833
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 chr10:37,534,449...37,554,861
Ensembl chr10:37,535,871...37,554,664
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 IMP RGD PMID:20054491 RGD:2316808 NCBI chr 2:54,857,688...54,893,404
Ensembl chr 2:54,857,688...54,893,404
JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 susceptibility ISO DNA:SNPs RGD PMID:16567511 RGD:1625266 NCBI chr 5:124,568,845...124,642,569
Ensembl chr 5:124,574,079...124,642,569
JBrowse link
G Prkcb protein kinase C, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15531508 NCBI chr 1:192,233,569...192,575,339
Ensembl chr 1:192,233,910...192,574,831
JBrowse link
G Prkce protein kinase C, epsilon IEP mRNA,protein:decreased expression:liver: RGD PMID:26398746 RGD:13506804 NCBI chr 6:9,483,400...9,973,396
Ensembl chr 6:9,790,422...9,973,396
JBrowse link
G Prkci protein kinase C, iota ISS OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 MouseDO NCBI chr 2:115,941,998...116,002,550
Ensembl chr 2:115,941,993...116,002,561
JBrowse link
G Prkcz protein kinase C, zeta IEP mRNA,protein:decreased expression:liver,pancreas: RGD PMID:26398746 RGD:13506804 NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase IEP protein:decreased expression:cerebral cortex (rat) RGD PMID:28573460 RGD:13432564 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Prox1 prospero homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20081858 NCBI chr13:108,382,536...108,444,107
Ensembl chr13:108,382,399...108,443,294
JBrowse link
G Psmd6 proteasome 26S subunit, non-ATPase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158537 NCBI chr15:12,407,557...12,416,153
Ensembl chr15:12,407,524...12,416,105
JBrowse link
G Ptf1a pancreas associated transcription factor 1a ISO ClinVar Annotator: match by term: Diabetes mellitus type 2 ClinVar NCBI chr17:86,199,623...86,201,477
Ensembl chr17:86,199,623...86,201,477
JBrowse link
G Ptgds prostaglandin D2 synthase IEP protein:increased expression:urine RGD PMID:16384826 RGD:1642580 NCBI chr 3:2,686,125...2,689,059
Ensembl chr 3:2,686,123...2,689,084
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP RGD PMID:18706904 RGD:2300222 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Pth parathyroid hormone ISO DNA:snp:exon:g.350C>A rs6256 (human) RGD PMID:22777106 RGD:7242744 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO OMIM NCBI chr 3:164,665,462...164,711,936
Ensembl chr 3:164,665,532...164,711,848
JBrowse link
G Rarres2 retinoic acid receptor responder 2 IEP protein:increased expression:multiple: RGD PMID:30873215 RGD:15036825 NCBI chr 4:78,205,809...78,208,956
Ensembl chr 4:78,205,812...78,208,767
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 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
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 chr14:59,657,738...59,865,427
Ensembl chr14:59,658,935...59,735,450
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 3:160,851,836...160,865,125
Ensembl chr 3:160,852,164...160,864,534
JBrowse link
G Reg3b regenerating family member 3 beta IEP mRNA:increased expression:islet of Langerhans (rat) RGD PMID:24587207 RGD:9831427 NCBI chr 4:109,467,272...109,470,510
Ensembl chr 4:109,467,272...109,470,510
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23500658 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
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 PMID:19177195, PMID:15523596, PMID:12629116, PMID:19738363, PMID:19269054, PMID:19381781 RGD:2313498, RGD:7207163, RGD:1624968, RGD:2313494, RGD:2313497, RGD:2313495 NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
JBrowse link
G Rnf6 ring finger protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr12:10,574,168...10,583,196
Ensembl chr12:10,574,168...10,583,208
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 chr19:561,696...564,929
Ensembl chr19:561,727...564,930
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO RGD PMID:16331578 RGD:2301814 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G S100a6 S100 calcium binding protein A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr 2:190,007,013...190,008,512
Ensembl chr 2:190,007,216...190,008,511
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 IEP mRNA:increased expression:heart ventricle RGD PMID:22581745 RGD:6484255 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Sctr secretin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr13:36,039,241...36,090,515
Ensembl chr13:36,039,283...36,090,530
JBrowse link
G Sdc2 syndecan 2 ISO protein:increased expression:kidney RGD PMID:14976204 RGD:2311706 NCBI chr 7:71,572,731...71,686,139
Ensembl chr 7:71,572,941...71,686,044
JBrowse link
G Sdc4 syndecan 4 ISO mRNA:increased expression:kidney
ClinVar Annotator: match by term: Diabetes mellitus type 2
ClinVar PMID:14633120 RGD:2311707 NCBI chr 3:160,872,503...160,891,190
Ensembl chr 3:160,872,503...160,891,190
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 chr11:88,122,271...88,124,513
Ensembl chr11:88,122,271...88,124,513
JBrowse link
G Sell selectin L no_association ISO RGD PMID:22119815 RGD:7175303 NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
JBrowse link
G Selp selectin P ISO protein:increased expression:plasma RGD PMID:17598012 RGD:2312303 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Serpina12 serpin family A member 12 treatment IDA RGD PMID:16030142 RGD:1547845 NCBI chr 6:127,696,501...127,711,238
Ensembl chr 6:127,696,252...127,711,212
JBrowse link
G Serpinc1 serpin family C member 1 ISO protein:increased activity:plasma (human) RGD PMID:7974333 RGD:2312416 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sfrp4 secreted frizzled-related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23140642 NCBI chr17:47,383,983...47,394,065
Ensembl chr17:47,297,489...47,394,328
JBrowse link
G Sgcg sarcoglycan, gamma susceptibility ISO DNA:SNP: : rs9552911(human) RGD PMID:28123479 RGD:13605620 NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
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 PMID:21982312, PMID:19657112 RGD:2313782 NCBI chr10:56,219,861...56,237,354
Ensembl chr10:56,219,858...56,223,245
JBrowse link
G Sirt1 sirtuin 1 treatment ISO
IMP
associated with Obesity
CTD Direct Evidence: marker/mechanism
CTD PMID:23834033, PMID:18046409, PMID:19549853 RGD:9585769, RGD:9585997 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Sirt3 sirtuin 3 ISO mRNA:decreased expression:pancreatic islet RGD PMID:23397292 RGD:9586042 NCBI chr 1:213,613,502...213,636,061
Ensembl chr 1:213,613,513...213,635,546
JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr 3:92,518,679...92,665,731
Ensembl chr 3:92,640,752...92,665,644
JBrowse link
G Slc22a3 solute carrier family 22 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 1:48,433,079...48,521,261
Ensembl chr 1:48,433,079...48,521,256
JBrowse link
G Slc2a1 solute carrier family 2 member 1 no_association ISO CTD Direct Evidence: marker/mechanism CTD PMID:9589670, PMID:18613291, PMID:7516306, PMID:9789717 RGD:2312306, RGD:2312289, RGD:2312290 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc2a2 solute carrier family 2 member 2 susceptibility ISO DNA:SNPs (human)
ClinVar Annotator: match by term: Diabetes mellitus type 2
CTD Direct Evidence: marker/mechanism
DNA:point mutation:exon:p.V197I (human)
ClinVar
CTD
OMIM
PMID:16123366, PMID:25741868, PMID:28492532, PMID:17636114, PMID:8027028 RGD:2312359, RGD:1624252 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO protein:decreased expression:granulocyte, lymphocyte, monocyte RGD PMID:19110659 RGD:2313602 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
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
PMID:1397719, PMID:1918382, PMID:7814014, PMID:11947963, PMID:17107852, PMID:22384078, PMID:31626838, PMID:18653321, PMID:1918382 RGD:2313625, RGD:1625188 NCBI chr10:56,552,921...56,558,562
Ensembl chr10:56,552,983...56,558,487
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, PMID:24584071, PMID:31676859 NCBI chr 7:91,832,988...91,869,329
Ensembl chr 7:91,832,988...91,867,300
JBrowse link
G Slc9a1 solute carrier family 9 member A1 IEP mRNA, protein:decreased expression:heart RGD PMID:22009485 RGD:6771327 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
JBrowse link
G Slpi secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: Diabetes mellitus type 2 ClinVar NCBI chr 3:160,799,979...160,802,228
Ensembl chr 3:160,799,981...160,802,433
JBrowse link
G Smad4 SMAD family member 4 treatment IEP RGD PMID:25017203 RGD:12880049 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Smad5 SMAD family member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:20079400 NCBI chr17:8,307,448...8,336,996
Ensembl chr17:8,311,796...8,331,032
JBrowse link
G Snap25 synaptosome associated protein 25 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123366 NCBI chr 3:129,697,408...129,788,417
Ensembl chr 3:129,599,353...129,788,400
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 chr10:106,973,863...106,976,969
Ensembl chr10:106,975,178...106,976,040
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 PMID:15531508, PMID:19317795, PMID:16005359, PMID:18423055 RGD:2312363, RGD:1581216, RGD:2312364 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO DNA:polymorphism: :p.A16V (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15531508, PMID:18423055 RGD:2312364 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sod3 superoxide dismutase 3 ISO RGD PMID:15990193 RGD:1581225 NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
JBrowse link
G Sorbs1 sorbin and SH3 domain containing 1 ISO DNA:SNP: :p.T228A (human) RGD PMID:11532984 RGD:1642744 NCBI chr 1:259,373,921...259,502,108
Ensembl chr 1:259,376,933...259,484,569
JBrowse link
G Sphk1 sphingosine kinase 1 ISO RGD PMID:17265031 RGD:2311390 NCBI chr10:105,498,728...105,504,401
Ensembl chr10:105,498,728...105,504,393
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 3:153,547,807...153,595,643
Ensembl chr 3:153,580,861...153,595,642
JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 IEP mRNA:increased expression:adrenal gland (rat) RGD PMID:17884440 RGD:4891894 NCBI chr 1:36,320,504...36,354,694
Ensembl chr 1:36,320,461...36,354,756
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 chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
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 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
JBrowse link
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21874001 NCBI chr11:80,927,601...80,981,424
Ensembl chr11:80,927,601...80,981,422
JBrowse link
G Star steroidogenic acute regulatory protein IEP mRNA:decreased expression:testis, Leydig cell (rat) RGD PMID:18481435 RGD:4889107 NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:skeletal muscle RGD PMID:23043161 RGD:8694321 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tcf7l2 transcription factor 7 like 2 susceptibility IEP
ISO
CTD Direct Evidence: marker/mechanism
DNA:SNP (human)
DNA:SNPs: :multiple (human)
CTD
OMIM
PMID:17460697, PMID:23104008, PMID:28869590, PMID:19386626, PMID:19509102, PMID:19482368 RGD:2312454, RGD:2312433, RGD:2312453 NCBI chr 1:276,686,911...276,730,517
Ensembl chr 1:276,659,542...276,730,514
Ensembl chr 1:276,659,542...276,730,514
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 PMID:23500658, PMID:18646321, PMID:24613393 RGD:2306740, RGD:11073674 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP protein:increased expression:aorta RGD PMID:11947899 RGD:1601600 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Thada THADA, armadillo repeat containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:18372903 NCBI chr 6:7,423,555...7,741,431
Ensembl chr 6:7,423,520...7,741,414
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 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:16023759, PMID:16005367 RGD:1580148 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO mRNA:decreased expression:skeletal muscle RGD PMID:19633828 RGD:2312470 NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:glomerulus RGD PMID:16567508 RGD:2325150 NCBI chr 1:126,146,489...126,515,359
Ensembl chr 1:126,146,489...126,227,469
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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tmem18 transmembrane protein 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 6:49,529,228...49,534,960
Ensembl chr 6:49,529,228...49,536,648
JBrowse link
G Tnf tumor necrosis factor IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:24513509, PMID:20559450, PMID:28843383 RGD:5130987, RGD:14975146 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B severity ISO protein:increased expression:serum RGD PMID:22050177 RGD:7205512 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A IEP
ISO
mRNA:increased expression:coronary artery (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:11882518, PMID:20559450 RGD:5130987 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:11882518 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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 8:103,503,982...103,554,905
Ensembl chr 8:103,503,985...103,554,468
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 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
JBrowse link
G Ube2e2 ubiquitin-conjugating enzyme E2E 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20818381 NCBI chr15:7,402,210...7,928,320
Ensembl chr15:7,871,497...7,927,939
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 chr19:24,456,976...24,464,808
Ensembl chr19:24,456,976...24,464,807
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 PMID:15562023, PMID:16123366, PMID:15356383, PMID:11440717, PMID:18344121, PMID:10382588, PMID:11587528 RGD:2313517, RGD:737760, RGD:7175300, RGD:2313525, RGD:2313630 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
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 PMID:9769326, PMID:11587528, PMID:9769326, PMID:15356383, PMID:11484089, PMID:11723073, PMID:11126413, PMID:18223008 RGD:2313630, RGD:1625189, RGD:2313517, RGD:2313522, RGD:2313521, RGD:2313523, RGD:2313511 NCBI chr 1:165,482,912...165,495,895
Ensembl chr 1:165,482,155...165,496,206
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 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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 9:95,241,609...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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 9:95,233,957...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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 chr13:89,797,750...89,805,561
Ensembl chr13:89,797,800...89,805,558
JBrowse link
G Usp48 ubiquitin specific peptidase 48 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30718926 NCBI chr 5:155,935,102...156,002,722
Ensembl chr 5:155,934,490...156,002,721
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 5:168,078,748...168,084,133
Ensembl chr 5:168,078,748...168,084,145
JBrowse link
G Uts2r urotensin 2 receptor ISO mRNA:increased expression:skeletal muscle RGD PMID:19323985 RGD:2306785 NCBI chr10:110,364,291...110,365,451
Ensembl chr10:110,364,291...110,365,451
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:18619052 RGD:2312765 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA, protein:increased expression:ventricle myocardium RGD PMID:16139132 RGD:2313728 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vps26a VPS26 retromer complex component A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21874001 NCBI chr20:32,085,465...32,115,310
Ensembl chr20:32,086,746...32,115,357
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: 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
PMID:10679252, PMID:15605410, PMID:17603484, PMID:18544103, PMID:24033266, PMID:25133958, PMID:25388789, PMID:25741868, PMID:11916957, PMID:12107816, PMID:21713316, PMID:18060660, PMID:18040659 RGD:8694405, RGD:8694401, RGD:8694400, RGD:8694399, RGD:8694394 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
G Wrn WRN RecQ like helicase ISO ClinVar Annotator: match by term: Diabetes mellitus type 2 ClinVar PMID:25741868, PMID:30311386, PMID:18295300 RGD:10042987 NCBI chr16:62,483,773...62,619,018
Ensembl chr16:62,483,761...62,615,375
JBrowse link
G Zc3hc1 zinc finger, C3HC-type containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869590 NCBI chr 4:57,684,678...57,706,613
Ensembl chr 4:57,684,678...57,706,613
JBrowse link
G Zfand3 zinc finger AN1-type containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158537 NCBI chr20:8,693,989...8,892,572
Ensembl chr20:8,696,436...8,892,569
JBrowse link
diabetic ketoacidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp2 aquaporin 2 ISO RGD PMID:12021537 RGD:2314345 NCBI chr 7:141,237,802...141,242,837
Ensembl chr 7:141,237,768...141,245,165
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11430560 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Insr insulin receptor ISO RGD PMID:15254588 RGD:1302526 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Pax4 paired box 4 susceptibility ISO ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to ClinVar
OMIM
PMID:15509590, PMID:18414213, PMID:25741868 NCBI chr 4:55,735,640...55,753,461
Ensembl chr 4:55,735,682...55,740,627
JBrowse link
G Serpina7 serpin family A member 7 ISO protein:decreased expression:serum RGD PMID:6768790 RGD:2312332 NCBI chr  X:110,226,565...110,232,202
Ensembl chr  X:110,226,572...110,232,179
JBrowse link
Fanconi renotubular syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young OMIM
ClinVar
PMID:20164212, PMID:22802087, PMID:24285859, PMID:25741868, PMID:25819479, PMID:27245055, PMID:28458902, PMID:28693455 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
lipoatrophic diabetes mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:liver,serum: RGD PMID:19277603 RGD:8657358
G Insr insulin receptor ISO RGD PMID:14722613 RGD:1302525 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Lipoatrophic diabetes
ClinVar Annotator: match by term: Familial partial lipodystrophy 2
ClinVar PMID:2007407, PMID:2270059, PMID:10080180, PMID:10441578, PMID:10580070, PMID:10587585, PMID:10612827, PMID:10655060, PMID:10662742, PMID:10739751, PMID:10810087, PMID:10814726, PMID:10868844, PMID:10939567, PMID:10999791, PMID:10999845, PMID:11015599, PMID:11078466, PMID:11136544, PMID:11231979, PMID:11342468, PMID:11344241, PMID:11503164, PMID:11792809, PMID:11792811, PMID:12015247, PMID:12075506, PMID:12196663, PMID:12628721, PMID:12629077, PMID:12647844, PMID:12702809, PMID:12788894, PMID:12920062, PMID:12927424, PMID:12927431, PMID:14597414, PMID:14607793, PMID:14615128, PMID:14627682, PMID:14684700, PMID:14749366, PMID:15140538, PMID:15148145, PMID:15205219, PMID:15219508, PMID:15317753, PMID:15475483, PMID:15531479, PMID:15668447, PMID:15688064, PMID:15770669, PMID:15843403, PMID:15996213, PMID:15998779, PMID:16174718, PMID:16181372, PMID:16218190, PMID:16278265, PMID:16364671, PMID:16415042, PMID:16440304, PMID:16636128, PMID:16809772, PMID:16816143, PMID:16838330, PMID:17139325, PMID:17250669, PMID:17250699, PMID:17274801, PMID:17377071, PMID:17711925, PMID:18035086, PMID:18256394, PMID:18396274, PMID:18414213, PMID:18549403, PMID:18551513, PMID:18585512, PMID:18604166, PMID:18611980, PMID:18728124, PMID:18795223, PMID:18926329, PMID:19011997, PMID:19084400, PMID:19201734, PMID:19220582, PMID:19283854, PMID:19318026, PMID:19418082, PMID:19424285, PMID:19427440, PMID:19432833, PMID:19589617, PMID:19622949, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19859838, PMID:19933576, PMID:20041886, PMID:20074070, PMID:20127487, PMID:20130076, PMID:20160190, PMID:20376791, PMID:20625965, PMID:20848652, PMID:20980393, PMID:21346069, PMID:21520333, PMID:22103508, PMID:22199124, PMID:22224630, PMID:22266370, PMID:22326558, PMID:22464770, PMID:22700598, PMID:22918509, PMID:23071165, PMID:23183350, PMID:23243001, PMID:23313286, PMID:23328570, PMID:23349452, PMID:23427149, PMID:23497705, PMID:23783098, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24080738, PMID:24375749, PMID:24503780, PMID:24642510, PMID:24721642, PMID:24768879, PMID:24846508, PMID:25163546, PMID:25214167, PMID:25286833, PMID:25324471, PMID:25524705, PMID:25637381, PMID:25741868, PMID:25819867, PMID:25823658, PMID:25885670, PMID:26165385, PMID:26183555, PMID:26332594, PMID:26467025, PMID:26602028, PMID:26662654, PMID:26752647, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27813223, PMID:27854218, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28531892, PMID:28620495, PMID:28641778, PMID:28663758, PMID:28679633, PMID:28785654, PMID:28874324, PMID:29040816, PMID:29149195, PMID:29237675, PMID:29693488, PMID:29791652, PMID:30165862, PMID:30311386, PMID:30420677, PMID:30488537, PMID:12196663 RGD:1580516 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
maturity-onset diabetes of the young term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes of the young
ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young ClinVar NCBI chr15:46,555,552...46,593,778
Ensembl chr15:46,555,188...46,593,653
JBrowse link
G Edem2 ER degradation enhancing alpha-mannosidase like protein 2 ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar NCBI chr 3:151,232,741...151,258,559
Ensembl chr 3:151,232,751...151,258,580
JBrowse link
G Gck glucokinase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
ClinVar PMID:8068341, PMID:8168652, PMID:9049484, PMID:10426385, PMID:10525657, PMID:10753050, PMID:11508276, PMID:12442280, PMID:12627330, PMID:12955723, PMID:14517946, PMID:15277402, PMID:15305805, PMID:16602010, PMID:16731834, PMID:16965331, PMID:17079173, PMID:17186219, PMID:17389332, PMID:17573900, PMID:18414213, PMID:19790256, PMID:20337973, PMID:21348868, PMID:21521320, PMID:21831042, PMID:21921030, PMID:22028181, PMID:22335469, PMID:22389783, PMID:22540858, PMID:22820548, PMID:23433541, PMID:24033266, PMID:24097065, PMID:24568320, PMID:24578721, PMID:24918535, PMID:25015100, PMID:25306193, PMID:25414397, PMID:25525159, PMID:25555642, PMID:25741868, PMID:26467025, PMID:27080136, PMID:27935851, PMID:28012402, PMID:28842611, PMID:29284910 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Maturity onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar PMID:9045858, PMID:9075819, PMID:9166684, PMID:9754819, PMID:12453420, PMID:15928245, PMID:16496320, PMID:18003757, PMID:19754856, PMID:20132997, PMID:20393147, PMID:21224407, PMID:22060211, PMID:23607861, PMID:25741868, PMID:26446475, PMID:26467025, PMID:28105082, PMID:28492532, PMID:28701371, PMID:29207974, PMID:30455330, PMID:30507613 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:11845238, PMID:15660195, PMID:22432796, PMID:25536396, PMID:25700310, PMID:25705165, PMID:25741868, PMID:27297286 NCBI chr10:71,159,863...71,218,902
Ensembl chr10:71,159,869...71,218,902
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
ClinVar PMID:9267996, PMID:9313765, PMID:9449683, PMID:10983627, PMID:15793260, PMID:16883527, PMID:16917892, PMID:16946562, PMID:17573900, PMID:18811724, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29998026 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes of the young
ClinVar PMID:12610512, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Ins2 insulin 2 ISO
ISS
ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes of the young
OMIM:606391
ClinVar
MouseDO
PMID:12610512, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes of the young
ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
G Klf11 Kruppel-like factor 11 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young ClinVar PMID:25741868 NCBI chr 6:43,829,812...43,841,649
Ensembl chr 6:43,829,945...43,841,651
JBrowse link
G Mafa MAF bZIP transcription factor A ISS OMIM:606391 MouseDO NCBI chr 7:116,779,368...116,781,815
Ensembl chr 7:116,780,681...116,781,766
JBrowse link
G Neurod1 neuronal differentiation 1 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young ClinVar NCBI chr 3:66,414,314...66,417,617
Ensembl chr 3:66,414,308...66,417,741
JBrowse link
G Pax4 paired box 4 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young ClinVar PMID:15509590, PMID:18414213, PMID:25741868 NCBI chr 4:55,735,640...55,753,461
Ensembl chr 4:55,735,682...55,740,627
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISS
ISO
OMIM:606391
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
MouseDO
ClinVar
PMID:10545530, PMID:10545531, PMID:10720084, PMID:11022198, PMID:11270685, PMID:11315851, PMID:11914043, PMID:15001545, PMID:15170499, PMID:15277425, PMID:15754742, PMID:16741735, PMID:17592437, PMID:19515026, PMID:21569088, PMID:24097065, PMID:25741868, PMID:26058934, PMID:26467025, PMID:28492532 NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
JBrowse link
G Tgm2 transglutaminase 2 ISS OMIM:606391 MouseDO NCBI chr 3:154,597,165...154,627,257
Ensembl chr 3:154,597,168...154,627,257
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes of the young
ClinVar PMID:12610512, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
maturity-onset diabetes of the young type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 1 ClinVar PMID:18003757, PMID:20393147, PMID:23348805, PMID:24033266 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 1
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:125850
OMIM
ClinVar
CTD
PMID:193395, PMID:8945471, PMID:9294105, PMID:9313765, PMID:9920109, PMID:10227563, PMID:10389854, PMID:10592235, PMID:10606640, PMID:10768098, PMID:10819248, PMID:10983627, PMID:11043869, PMID:11272211, PMID:11435618, PMID:11575290, PMID:12050210, PMID:12110948, PMID:12193589, PMID:15123688, PMID:15281001, PMID:15793260, PMID:15826954, PMID:15830177, PMID:15928245, PMID:16223942, PMID:16883527, PMID:16917892, PMID:16946562, PMID:17407387, PMID:18414213, PMID:18811724, PMID:19478207, PMID:20164212, PMID:21105491, PMID:21115832, PMID:21683639, PMID:22140441, PMID:22232426, PMID:22802087, PMID:23247789, PMID:23348805, PMID:23485969, PMID:23551881, PMID:24033266, PMID:24097065, PMID:24285859, PMID:24947580, PMID:25041077, PMID:25414397, PMID:25555642, PMID:25631608, PMID:25741868, PMID:25819479, PMID:26059258, PMID:26467025, PMID:26512799, PMID:26740944, PMID:26971647, PMID:27080136, PMID:27245055, PMID:27420379, PMID:27486234, PMID:27552834, PMID:28242437, PMID:28458902, PMID:28492532, PMID:28693455, PMID:29998026, PMID:30663027 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
maturity-onset diabetes of the young type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 10 ClinVar PMID:12610512, PMID:17855560, PMID:18162506, PMID:18192540, PMID:20226046, PMID:25542748, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by OMIM:613370
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 10
ClinVar
OMIM
PMID:12610512, PMID:17855560, PMID:18162506, PMID:18192540, PMID:20226046, PMID:25542748, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 10 ClinVar PMID:12610512, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
maturity-onset diabetes of the young type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 11
ClinVar Annotator: match by OMIM:613375
OMIM
ClinVar
PMID:18414213, PMID:19667185, PMID:24033266, PMID:25741868, PMID:28095440, PMID:28492532 NCBI chr15:46,555,552...46,593,778
Ensembl chr15:46,555,188...46,593,653
JBrowse link
G Fam167a family with sequence similarity 167, member A ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 11 ClinVar PMID:19667185 NCBI chr15:46,613,761...46,643,771
Ensembl chr15:46,613,810...46,643,772
JBrowse link
maturity-onset diabetes of the young type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 13
ClinVar Annotator: match by term: MODY, TYPE 13
ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 13
ClinVar Annotator: match by term: MODY, TYPE 13
ClinVar Annotator: match by term: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13
OMIM
ClinVar
PMID:8897013, PMID:9867219, PMID:10338089, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:14551916, PMID:14715863, PMID:14871556, PMID:15115830, PMID:15504982, PMID:15562009, PMID:15579791, PMID:15784703, PMID:15797964, PMID:15855351, PMID:16416420, PMID:16455067, PMID:16595597, PMID:16670688, PMID:17257281, PMID:17316607, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17673911, PMID:17823772, PMID:18250167, PMID:18290324, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:20685672, PMID:21054355, PMID:21115269, PMID:21119644, PMID:21210267, PMID:21765448, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22311976, PMID:22385882, PMID:22471336, PMID:22512215, PMID:22701567, PMID:22704848, PMID:22958899, PMID:22992668, PMID:23275527, PMID:23345197, PMID:24442125, PMID:24698822, PMID:25115353, PMID:25637631, PMID:25741868, PMID:25871929, PMID:25972930, PMID:26467025, PMID:26740944, PMID:27033559, PMID:28492532, PMID:29681852 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
maturity-onset diabetes of the young type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 14 ClinVar
OMIM
PMID:26073777 NCBI chr16:2,560,103...2,602,035
Ensembl chr16:2,563,520...2,602,103
JBrowse link
maturity-onset diabetes of the young type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gck glucokinase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 2
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:125851
OMIM
ClinVar
CTD
PMID:1303265, PMID:1349989, PMID:1464666, PMID:1502186, PMID:1545870, PMID:1570017, PMID:7542040, PMID:7555485, PMID:8068341, PMID:8132752, PMID:8168652, PMID:8314448, PMID:8325892, PMID:8349034, PMID:8376578, PMID:8433729, PMID:8446612, PMID:8454109, PMID:8495817, PMID:8897004, PMID:9049484, PMID:9472859, PMID:9662401, PMID:9736233, PMID:10426385, PMID:10447526, PMID:10525657, PMID:10694920, PMID:10753050, PMID:10754480, PMID:11079754, PMID:11315828, PMID:11315850, PMID:11315851, PMID:11372010, PMID:11508276, PMID:11553210, PMID:11772903, PMID:11942313, PMID:12050210, PMID:12442280, PMID:12627330, PMID:12955723, PMID:14517946, PMID:14517956, PMID:15102714, PMID:15305805, PMID:15448103, PMID:15657605, PMID:15667334, PMID:15677479, PMID:15841481, PMID:15918042, PMID:15928245, PMID:16444761, PMID:16602010, PMID:16632067, PMID:16731834, PMID:16938872, PMID:16963153, PMID:16965331, PMID:17079173, PMID:17186219, PMID:17204055, PMID:17353190, PMID:17389332, PMID:17573900, PMID:17937063, PMID:18056790, PMID:18248649, PMID:18271687, PMID:18322640, PMID:18382660, PMID:18399931, PMID:18407139, PMID:18411240, PMID:18414213, PMID:18481947, PMID:19069349, PMID:19187021, PMID:19309449, PMID:19339519, PMID:19564454, PMID:19790256, PMID:19903754, PMID:20005544, PMID:20132997, PMID:20337973, PMID:21104275, PMID:21115832, PMID:21348868, PMID:21395678, PMID:21420961, PMID:21437567, PMID:21518409, PMID:21521320, PMID:21569204, PMID:21604084, PMID:21720051, PMID:21831042, PMID:21921030, PMID:22028181, PMID:22060211, PMID:22291974, PMID:22335469, PMID:22389783, PMID:22493702, PMID:22540858, PMID:22611063, PMID:22761713, PMID:22773699, PMID:22820548, PMID:23085272, PMID:23295292, PMID:23433541, PMID:23771172, PMID:24033266, PMID:24097065, PMID:24323243, PMID:24411943, PMID:24430320, PMID:24518839, PMID:24568320, PMID:24578721, PMID:24728127, PMID:24735133, PMID:24804978, PMID:24918535, PMID:25015100, PMID:25082184, PMID:25182307, PMID:25306193, PMID:25414397, PMID:25494859, PMID:25555642, PMID:25741868, PMID:25850297, PMID:26059258, PMID:26123671, PMID:26287533, PMID:26467025, PMID:27059371, PMID:27080136, PMID:27106716, PMID:27167055, PMID:27185633, PMID:27269892, PMID:27271189, PMID:27935851, PMID:28012402, PMID:28170077, PMID:28492532, PMID:28555465, PMID:28575730, PMID:28726111, PMID:29056535, PMID:29207974, PMID:29424410, PMID:29510678, PMID:30086370, PMID:30155490, PMID:30257192, PMID:30592380 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
maturity-onset diabetes of the young type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 3
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:600496
OMIM
ClinVar
CTD
PMID:8866553, PMID:8945470, PMID:9032114, PMID:9045858, PMID:9075818, PMID:9075819, PMID:9097962, PMID:9112026, PMID:9133564, PMID:9166684, PMID:9287053, PMID:9313763, PMID:9313764, PMID:9392505, PMID:9439666, PMID:9604876, PMID:9754819, PMID:10078571, PMID:10333057, PMID:10447526, PMID:10482964, PMID:10585442, PMID:10588527, PMID:10634407, PMID:10649494, PMID:10754480, PMID:10852449, PMID:11058894, PMID:11162430, PMID:11289470, PMID:11296231, PMID:11315851, PMID:11692182, PMID:11938027, PMID:12050210, PMID:12107757, PMID:12355088, PMID:12359128, PMID:12378390, PMID:12442280, PMID:12453420, PMID:12453976, PMID:12488961, PMID:12488962, PMID:12530534, PMID:12574234, PMID:12618559, PMID:12627330, PMID:12675668, PMID:12788852, PMID:15031772, PMID:15277395, PMID:15305805, PMID:15649945, PMID:15657605, PMID:15726414, PMID:15761192, PMID:15883474, PMID:15928245, PMID:16046319, PMID:16186275, PMID:16249556, PMID:16274290, PMID:16834925, PMID:16917892, PMID:16963153, PMID:17033837, PMID:17054605, PMID:17116178, PMID:17192490, PMID:17220065, PMID:17407072, PMID:17407387, PMID:17425917, PMID:17440016, PMID:17496355, PMID:17573900, PMID:17601994, PMID:17700391, PMID:17924661, PMID:17937063, PMID:17989309, PMID:18003757, PMID:18221440, PMID:18332101, PMID:18414213, PMID:18498634, PMID:18513305, PMID:18672310, PMID:18811724, PMID:18838325, PMID:19150152, PMID:19339519, PMID:19754856, PMID:19929997, PMID:20132997, PMID:20210571, PMID:20393147, PMID:20705777, PMID:21051477, PMID:21170474, PMID:21224407, PMID:21518407, PMID:21628466, PMID:21683639, PMID:21696527, PMID:21761282, PMID:22060211, PMID:22341299, PMID:22432108, PMID:22432796, PMID:22802087, PMID:23139355, PMID:23274891, PMID:23348805, PMID:23548576, PMID:23551881, PMID:23607861, PMID:23624530, PMID:24033266, PMID:24041679, PMID:24097065, PMID:24323243, PMID:24728327, PMID:24915262, PMID:25174781, PMID:25306193, PMID:25414397, PMID:25483937, PMID:25555642, PMID:25741868, PMID:26059258, PMID:26110317, PMID:26287533, PMID:26431509, PMID:26467025, PMID:26479152, PMID:26552609, PMID:26853433, PMID:27083284, PMID:27458973, PMID:27486234, PMID:27899486, PMID:27913849, PMID:28012402, PMID:28410371, PMID:28492532, PMID:28701371, PMID:28938416, PMID:29179779, PMID:29207974, PMID:29376044, PMID:29753610, PMID:30155490, PMID:30181854, PMID:30202817, PMID:30293189, PMID:30455330 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G RGD1311899 similar to RIKEN cDNA 2210016L21 gene ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 3 ClinVar PMID:10482964, PMID:12488962, PMID:24728327, PMID:26467025 NCBI chr12:47,433,355...47,438,960
Ensembl chr12:47,433,358...47,438,931
JBrowse link
maturity-onset diabetes of the young type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdx1 pancreatic and duodenal homeobox 1 ISO ClinVar Annotator: match by OMIM:606392
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 4
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 4
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type IV
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:8506821, PMID:8988180, PMID:9326926, PMID:9649577, PMID:10545530, PMID:10545531, PMID:10720084, PMID:11022198, PMID:11270685, PMID:11315851, PMID:11914043, PMID:12618559, PMID:12970316, PMID:14764823, PMID:15001545, PMID:15170499, PMID:15277425, PMID:15754742, PMID:15883474, PMID:16092045, PMID:16741735, PMID:17126328, PMID:17592437, PMID:19228875, PMID:19496967, PMID:19515026, PMID:20009086, PMID:20621032, PMID:21115832, PMID:21569088, PMID:24033266, PMID:24097065, PMID:25741868, PMID:26058934, PMID:26059258, PMID:26467025, PMID:27420379, PMID:27535533, PMID:27879211, PMID:28492532, PMID:29439679, PMID:30930126 NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
JBrowse link
maturity-onset diabetes of the young type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:25741868 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome
ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney
ClinVar Annotator: match by OMIM:137920
OMIM
ClinVar
PMID:2624270, PMID:7151342, PMID:9398836, PMID:9703339, PMID:10484768, PMID:10672455, PMID:10720943, PMID:10758154, PMID:10868855, PMID:11085914, PMID:11317673, PMID:11562418, PMID:11845237, PMID:11845238, PMID:11918730, PMID:12148114, PMID:12161522, PMID:12460054, PMID:12478351, PMID:12675839, PMID:14583183, PMID:15001636, PMID:15068978, PMID:15085338, PMID:15168014, PMID:15181075, PMID:15509593, PMID:15649945, PMID:15660195, PMID:15930087, PMID:16133182, PMID:16249435, PMID:16371430, PMID:16801329, PMID:16971658, PMID:17116179, PMID:17267738, PMID:17337496, PMID:17440011, PMID:17878605, PMID:17924661, PMID:18065799, PMID:18249217, PMID:18528323, PMID:18644064, PMID:19228875, PMID:19346182, PMID:19389850, PMID:19639018, PMID:20155289, PMID:20378641, PMID:20543213, PMID:20603712, PMID:20633866, PMID:21163139, PMID:21380624, PMID:21617276, PMID:21775974, PMID:22034641, PMID:22060211, PMID:22114815, PMID:22432796, PMID:22641569, PMID:22706971, PMID:23520208, PMID:23539225, PMID:23926411, PMID:23979948, PMID:24033266, PMID:24041679, PMID:24097065, PMID:24382792, PMID:24387224, PMID:24429398, PMID:24476040, PMID:24897035, PMID:24961278, PMID:25041077, PMID:25441779, PMID:25500806, PMID:25536396, PMID:25700310, PMID:25705165, PMID:25741868, PMID:25754277, PMID:26024028, PMID:26059258, PMID:26226118, PMID:26319241, PMID:26417411, PMID:26467025, PMID:26489027, PMID:26489029, PMID:26669242, PMID:26899772, PMID:27229139, PMID:27234567, PMID:27297286, PMID:27657687, PMID:27838256, PMID:27913849, PMID:28215227, PMID:28251383, PMID:28420700, PMID:28502589, PMID:28593362<