glucose metabolism disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:	glucose metabolism disease	go back to main search page
Accession:	DOID:4194	browse the term
Definition:	A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range. (DO)
Synonyms:	exact_synonym:	disorder of glucose metabolism; glucose metabolic disorder; glucose metabolic disorders; glucose metabolism disorder; glucose metabolism disorders
	xref:	EFO:0009406; MESH:D044882; MONDO:0002908; NCI:C53655
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (2158) Mouse (1686) Human (21778) Chinchilla (1476) Bonobo (1576) Dog (1615) Squirrel (1505) Pig (1596) Green Monkey (1560) Naked Mole-rat (1472) All
Genes (1682) QTL (359) Strains (117)

glucose metabolism disease

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily H member 6

NCBI chr10:90,949,240...90,970,746
Ensembl chr10:90,949,846...90,970,701

G

nuclear receptor subfamily 3, group C, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

RAN binding protein 2

RGD

NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481

abdominal obesity-metabolic syndrome

term browser

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Object Name

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PubMed Reference(s)

RGD Reference(s)

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G

cardiotrophin 1

NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335

G

guanylate cyclase 2C

NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092

G

leptin

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

nei-like DNA glycosylase 1

NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258

G

peroxisome proliferator activated receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

G

peroxisome proliferator-activated receptor gamma

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

PPARG coactivator 1 alpha

mRNA:increased expression:gastrocnemius muscle (rat)

RGD

NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656

G

protein kinase C, iota

NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352

G

sirtuin 3

NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808

G

solute carrier family 2 member 9

NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981

abdominal obesity-metabolic syndrome 1

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

protein:increased oxidation:cardiac muscle cell

RGD

NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101

G

BCL2 associated X, apoptosis regulator

treatment

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

BCL2, apoptosis regulator

treatment

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

Fas associated via death domain

treatment

RGD

NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653

G

Fas cell surface death receptor

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

leptin

OMIM:605552

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

lipoprotein lipase

treatment

RGD

NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249

G

microsomal triglyceride transfer protein

ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1

PMID:8533758 PMID:9671739 PMID:16199547 PMID:16721486 PMID:21394827 More...

NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239

G

toll-like receptor 2

susceptibility

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

tumor protein p53 inducible nuclear protein 1

OMIM:605552

NCBI chr 5:24,253,986...24,272,250
Ensembl chr 5:24,260,568...24,267,968

abdominal obesity-metabolic syndrome 3

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT hook, DNA binding motif, containing 1

ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3

PMID:25741868 PMID:29696776 PMID:33644933

NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145

G

dual specificity tyrosine phosphorylation regulated kinase 1B

ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: DYRK1B-related condition

PMID:9536098 PMID:17576681 PMID:24827035 PMID:25741868 PMID:28492532 More...

NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169

abdominal obesity-metabolic syndrome 4

term browser

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Object Name

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Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chymotrypsin like elastase 2A

ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 4

PMID:25741868 PMID:31358993

NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632

adrenocorticotropic hormone deficiency

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

piezo-type mechanosensitive ion channel component 1

ClinVar Annotator: match by term: ACTH deficiency

NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501

G

retinoid isomerohydrolase RPE65

ClinVar Annotator: match by term: ACTH deficiency

PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 More...

NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403

G

T-box transcription factor 19

OMIM:201400
ClinVar Annotator: match by term: ACTH deficiency
CTD Direct Evidence: marker/mechanism

OMIM
MouseDO
ClinVar
CTD

PMID:2830787 PMID:9536098 PMID:11290323 PMID:12651888 PMID:15476446 More...

NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163

autosomal dominant Wolfram syndrome

term browser

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Object Name

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PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin-dependent kinase 13

ClinVar Annotator: match by term: Wolfram-like disorder

PMID:25741868 PMID:28492532 PMID:33879837

NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More...

NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602

background diabetic retinopathy

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-2-macroglobulin

treatment

RGD

NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786

G

catalase

associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum:

RGD

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

Fms related receptor tyrosine kinase 1

protein:decreased expression:aqueous humor:

RGD

NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626

G

mitogen-activated protein kinase kinase kinase 8

protein:increased activity:serum:

RGD

NCBI chr17:53,382,908...53,403,216
Ensembl chr17:53,383,131...53,403,216

G

platelet derived growth factor subunit B

protein:decreased expression:vitreous:

RGD

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

Bone Marrow Failure and Diabetes Mellitus Syndrome

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

deoxyuridine triphosphatase

ClinVar Annotator: match by term: Bone marrow failure and diabetes mellitus syndrome

PMID:9548420 PMID:25741868 PMID:28073829 PMID:35611808 PMID:35931051

NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771

carnitine palmitoyltransferase I deficiency

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carnitine palmitoyltransferase 1A

ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency
OMIM:255120
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9048718 PMID:9536098 PMID:9691089 PMID:11350182 PMID:11350183 More...

NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055

Carnitine Palmitoyltransferase II Deficiency, Infantile

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carnitine palmitoyltransferase 2

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile

CTD
OMIM
ClinVar

PMID:736528 PMID:835844 PMID:1086878 PMID:1528846 PMID:1999498 More...

NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095

cataract 47

term browser

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

solute carrier family 16, member 12

ClinVar Annotator: match by term: CATARACT, JUVENILE, WITH MICROCORNEA | ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria

PMID:17458810 PMID:18304496 PMID:21778275 PMID:24281366 PMID:25741868 More...

NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141

Childhood-Onset Spasticity with Hyperglycinemia

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutaredoxin 5

ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemia

PMID:24334290 PMID:25741868 PMID:28492532

NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545

chromosome 17q11.2 deletion syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ring finger protein 135

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome

PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More...

NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804

Cleft Palate, Proliferative Retinopathy, and Developmental Delay

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine rich repeat containing 32

ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay

PMID:25741868 PMID:30976112

NCBI chr 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373

Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DnaJ heat shock protein family (Hsp40) member C3

ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus

PMID:25466870 PMID:25741868 PMID:28940199 PMID:32738013 PMID:33486469

NCBI chr15:96,025,605...96,068,585
Ensembl chr15:96,025,624...96,065,181

G

DnaJ heat shock protein family (Hsp40) member C6

ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus

PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693

NCBI chr 5:116,120,069...116,283,448
Ensembl chr 5:116,119,676...116,283,448

G

MAF bZIP transcription factor A

ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus

NCBI chr 7:107,432,292...107,435,084
Ensembl chr 7:107,433,605...107,434,690

Congenital Hyperinsulinism

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 3

ClinVar Annotator: match by term: Familial hyperinsulinism

PMID:24871971 PMID:27516224 PMID:36808083 PMID:37108718

NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745

G

ATP binding cassette subfamily C member 8

ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
DNA:mutations:exon:multiple
DNA:missense mutations, nonsense mutations, splice-site mutations:CDS:multiple
DNA:missense mutations:exon:p.G1485E (c.4454G>A), p.D1506E (c.4518C>A), p.M1544K (c.4541T>A) (human)
DNA:mutations:exon, intron:multiple
DNA:deletion: :p.S1387del (human)
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:3202066 PMID:7716548 PMID:8751851 PMID:8923011 PMID:9041101 More...

RGD:704365, RGD:12790723, RGD:11069847, RGD:12790596, RGD:11067821, RGD:12790587, RGD:11070657, RGD:12743628

NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510

G

glucokinase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial hyperinsulinism

PMID:15277402 PMID:19053014 PMID:19336674 PMID:21831042 PMID:23890519 More...

NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995

G

glutamate dehydrogenase 1

RGD

NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957

G

hydroxyacyl-CoA dehydrogenase

DNA:deletion:cds (human)

RGD

NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353

G

hepatocyte nuclear factor 4, alpha

DNA:mutations: :
ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism

PMID:10227563 PMID:10447526 PMID:10983627 PMID:12669197 PMID:15281001 More...

NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320

G

potassium inwardly-rectifying channel, subfamily J, member 11

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
DNA:SNPs:exon:c.151G>T, c.1017G>T (human)
DNA:missense mutations, frameshift mutations:CDS:multiple
DNA:deletion, frameshift mutation, missense mutations:exon:multiple
DNA:deletion, insertion:exon
DNA:missense mutation:exon:p.R34H (c.101G>A) (human)

CTD
ClinVar
RGD

PMID:9867219 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 More...

RGD:12790723, RGD:11069847, RGD:12790587, RGD:12743643, RGD:12743624

NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082

G

potassium sodium-activated channel subfamily T member 2

ClinVar Annotator: match by term: KCNT2-related condition

PMID:25741868 PMID:29069600

NCBI chr13:51,664,129...52,059,209
Ensembl chr13:51,664,686...52,056,987

G

TBC1 domain family, member 4

RGD

NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265

Developmental Delay, Epilepsy, and Neonatal Diabetes

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium inwardly-rectifying channel, subfamily J, member 11

ClinVar Annotator: match by term: DEND syndrome

PMID:15580558 PMID:15718250 PMID:25741868 PMID:26448950

NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082

Diabetes Complications

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283

G

aldo-keto reductase family 1 member B1

CTD Direct Evidence: marker/mechanism

PMID:25304492 PMID:25541468

NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157

G

aldehyde dehydrogenase 2 family member

CTD Direct Evidence: therapeutic

NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521

G

bradykinin receptor B1

RGD

NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747

G

bradykinin receptor B2

RGD

NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497

G

caspase 9

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626

G

cytochrome P450, subfamily 2, polypeptide 11

RGD

NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

Associated with obesity

RGD

NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715

G

ghrelin and obestatin prepropeptide

protein: decreased expression: serum

RGD

NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621

G

glyoxalase 1

no_association

DNA:SNP: :419C>A (human)

RGD

NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649

G

histone deacetylase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

G

haptoglobin

CTD Direct Evidence: marker/mechanism

NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523

G

microRNA 126a

associated with type 1 diabetes mellitus;

RGD

NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180

G

microRNA 140

CTD Direct Evidence: marker/mechanism

NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675

G

microRNA 26a

CTD Direct Evidence: marker/mechanism

NCBI chr 8:118,755,289...118,755,378
Ensembl chr 8:118,755,289...118,755,378

G

mucin 1, cell surface associated

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733

G

nuclear receptor subfamily 0, group B, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609

G

phospholamban

associated with Diabetes Mellitus, Experimental;mRNA:increased expression:diaphragm

RGD

NCBI chr20:32,629,537...32,639,559

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

protein kinase AMP-activated catalytic subunit alpha 1

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978

G

solute carrier family 10 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475

G

solute carrier family 51 member A

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485

G

SLC51 subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145

G

solute carrier family 9 member A1

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

diabetes mellitus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes

PMID:3202066 PMID:9618169 PMID:9648840 PMID:10204114 PMID:10685979 More...

NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510

G

ATP binding cassette subfamily G member 2

protein:increased expression:kidney

RGD

NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409

G

acid phosphatase 1

RGD

NCBI chr 6:47,506,380...47,522,021
Ensembl chr 6:47,506,380...47,522,021

G

adenosine deaminase

treatment

RGD

NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088

G

adiponectin, C1Q and collagen domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

adrenoceptor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259

G

advanced glycosylation end product-specific receptor

susceptibility

protein:decreased expression:plasma (human)

RGD

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

1-acylglycerol-3-phosphate O-acyltransferase 2

ClinVar Annotator: match by term: Monogenic diabetes

PMID:11967537 PMID:12826327 PMID:22831748 PMID:25741868 PMID:26336158 More...

NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371

G

aldolase, fructose-bisphosphate B

mRNA:reduced expression:pancreatic islet (mouse)

RGD

NCBI chr 5:63,889,045...63,902,086
Ensembl chr 5:63,889,046...63,902,116

G

ALMS1, centrosome and basal body associated protein

ClinVar Annotator: match by term: Monogenic diabetes

PMID:18154657 PMID:21157496 PMID:21943378 PMID:22876109 PMID:23033341 More...

NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005

G

alpha-kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157

G

amine oxidase, copper containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:86,272,757...86,280,702

G

apolipoprotein B

protein:increased expression:serum

RGD

NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497

G

apolipoprotein C2

protein:increased expression:serum

RGD

NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476

G

apolipoprotein C3

protein:increased expression:serum

RGD

NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583

G

apolipoprotein E

treatment

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

apolipoprotein H

protein:increased expression:plasma
mRNA:increased expression:retina

RGD

PMID:9377806 PMID:18695102

RGD:2313991, RGD:2313982

NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329

G

aquaporin 1

protein:altered localization:retina

RGD

NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690

G

aquaporin 4

RGD

NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856

G

actin related protein 2/3 complex, subunit 3

associated with Obesity, Morbid;mRNA:decreased expression:omentum, adipose tissue (human)

RGD

NCBI chr12:34,172,780...34,186,651
Ensembl chr12:34,172,780...34,186,651

G

agouti signaling protein

associated with Obesity;DNA:mutation (mouse)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:1473152 PMID:10426381

NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171

G

BLK proto-oncogene, Src family tyrosine kinase

ClinVar Annotator: match by term: Monogenic diabetes

PMID:18204098 PMID:18414213 PMID:19667185 PMID:24023612 PMID:24033266 More...

NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031

G

basic helix-loop-helix ARNT like 1

NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231

G

BSCL2 lipid droplet biogenesis associated, seipin

ClinVar Annotator: match by term: Monogenic diabetes

PMID:18690553 PMID:23430896 PMID:23963299 PMID:25588603 PMID:25741868 More...

NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421

G

similar to human chromosome 12 open reading frame 43

ClinVar Annotator: match by term: Monogenic diabetes

PMID:9075818 PMID:9392505 PMID:10333057 PMID:10482964 PMID:12488962 More...

NCBI chr12:41,672,089...41,677,722
Ensembl chr12:41,672,114...41,677,714

G

caspase 3

protein:increased expression:ovary

RGD

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

caveolin 1

ClinVar Annotator: match by term: Monogenic diabetes

PMID:25741868 PMID:28492532

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

caveolae associated protein 1

ClinVar Annotator: match by term: Monogenic diabetes

PMID:25741868 PMID:28492532

NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120

G

C-C motif chemokine ligand 5

protein:increased expression:serum

RGD

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

CD36 molecule

protein:increased expression:macrophage

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CD40 ligand

associated with Coronary Arteriosclerosis, Myocardial Infarction; protein:increased expression:serum

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

cadherin 1

associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:decreased expression:lung (human)

RGD

NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

G

CDK5 regulatory subunit associated protein 1-like 1

DNA:snp: :rs10946398(human)

RGD

NCBI chr17:34,718,701...35,271,276
Ensembl chr17:34,718,687...35,407,524

G

carboxyl ester lipase

ClinVar Annotator: match by term: Monogenic diabetes

PMID:18414213 PMID:25741868 PMID:28492532 PMID:32906201

NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035

G

chymotrypsin like elastase 2A

ClinVar Annotator: match by term: Diabetes

PMID:25741868 PMID:31358993

NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632

G

clock circadian regulator

NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400

G

ceruloplasmin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075

G

carboxypeptidase B2

protein:increased expression, increased activity:plasma

RGD

NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556

G

carnitine palmitoyltransferase 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055

G

colony stimulating factor 1 receptor

associated with hepatocellular��carcinoma;DNA:hypermethylation:promoter (human)

RGD

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

G

cathepsin B

onset

DNA:transversion:cds:p.L26V (human)

RGD

NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500

G

C-X3-C motif chemokine receptor 1

RGD

NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014

G

cytochrome b5 reductase 4

RGD

NCBI chr 8:87,975,596...88,048,356
Ensembl chr 8:87,981,116...88,045,832

G

cytochrome b-245 beta chain

CTD Direct Evidence: marker/mechanism

NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586

G

cytochrome P450, family 11, subfamily b, polypeptide 3

DNA:polymorphisms:5' utr, cds:-344C>T, p.K173R (human)

RGD

NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048

G

cytochrome P450, family 1, subfamily a, polypeptide 1

associated with Smoking Inhalation Injury; DNA:polymorphism:3' UTR:5639T>C (human)

RGD

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

cytochrome P450, family 51

mRNA,protein:decreased expression:liver

RGD

NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410

G

dicer 1 ribonuclease III

RGD

NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965

G

delta like canonical Notch ligand 4

ameliorates

protein:increased expression:skin:

RGD

PMID:30886104 PMID:29386132 PMID:30886104

RGD:155646129, RGD:155663360, RGD:155646129

NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931

G

epidermal growth factor receptor

associated with lung squamous cell carcinoma; protein:increased expression:lung (human)

RGD

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

eukaryotic translation initiation factor 2 alpha kinase 3

ClinVar Annotator: match by term: Monogenic diabetes

PMID:25741868 PMID:28492532

NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911

G

coagulation factor III, tissue factor

protein:decreased expression:urine
protein:increased expression:plasma

RGD

PMID:9212353 PMID:8914465

RGD:2313869, RGD:11060253

NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668

G

coagulation factor VII

no_association

protein:increased activity:plasma (rat)

RGD

PMID:10910004 PMID:15258325 PMID:10899350

RGD:2312393, RGD:2312391, RGD:1598920

NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610

G

fibronectin 1

protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20551625 PMID:11213886

NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

G

forkhead box P3

ClinVar Annotator: match by term: Monogenic diabetes

PMID:11137993 PMID:23313429 PMID:25741868 PMID:28492532 PMID:29193502 More...

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

alpha-L-fucosidase 1

protein:decreased activity:blood platelets

RGD

NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972

G

frataxin

DNA:deletion:exon (mouse)
associated with Friedrich Ataxia; DNA:repeats:intron:GAA (human)

RGD

PMID:12925693 PMID:8815938

RGD:2307048, RGD:2307047

NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540

G

glucose-6-phosphate dehydrogenase

protein:decreased activity:blood

RGD

NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801

G

glutamate decarboxylase 1

RGD

NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333

G

GATA binding protein 6

ClinVar Annotator: match by term: Monogenic diabetes

PMID:18414213 PMID:20581743 PMID:22158542 PMID:23223019 PMID:24310933 More...

NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532

G

GC, vitamin D binding protein

protein:increased expression:ascitic fluid

RGD

NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567

G

glucokinase

neonatal-onset diabetes mellitus,OMIM:606176;DNA:point mutation:exon:T228M
ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes

PMID:1354782 PMID:1464666 PMID:1502186 PMID:7542040 PMID:7553875 More...

NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995

G

gamma-glutamyltransferase 1

associated with Cystic Fibrosis; protein:increased activity:plasma

RGD

NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442

G

growth hormone 1

protein:increased expression:vitreous body
protein:increased secretion:plasma

RGD

PMID:19463895 PMID:1132599

RGD:2315653, RGD:2315658

NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078

G

gastric inhibitory polypeptide receptor

human gene, mouse model

RGD

NCBI chr 1:78,804,287...78,814,462
Ensembl chr 1:78,805,593...78,814,462

G

GLIS family zinc finger 3

ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes

PMID:18414213 PMID:25741868 PMID:27899417 PMID:28492532 PMID:29146476 More...

NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899

G

glucagon-like peptide 1 receptor

RGD

NCBI chr20:8,972,004...9,010,241
Ensembl chr20:8,972,004...9,010,241

G

glutamate dehydrogenase 1

ClinVar Annotator: match by term: Monogenic diabetes

PMID:25741868 PMID:28492532

NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957

G

G protein subunit beta 3

no_association

DNA:polymorphism: :multiple (human)

RGD

NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173

G

G protein subunit gamma 3

ClinVar Annotator: match by term: Monogenic diabetes

PMID:25741868 PMID:26467025

NCBI chr 1:205,731,837...205,733,603
Ensembl chr 1:205,731,837...205,733,603

G

glutathione peroxidase 3

mRNA:decreased expression:skeletal muscle (mouse)

RGD

PMID:18936159 PMID:18562625

RGD:2312632, RGD:2312633

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

glutathione-disulfide reductase

protein:decreased activity:blood:

RGD

NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661

G

glutathione S-transferase mu 1

susceptibility

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

susceptibility

DNA:deletion: :

RGD

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

hydroxyacyl-CoA dehydrogenase

ClinVar Annotator: match by term: Monogenic diabetes

PMID:19417036 PMID:21347589 PMID:22662265 PMID:25741868 PMID:27104957 More...

NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353

G

hes family bHLH transcription factor 1

protein:increased expression:skin:

RGD

NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192

G

hes family bHLH transcription factor 5

protein:increased expression:skin:

RGD

NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001

G

hes-related family bHLH transcription factor with YRPW motif 1

protein:increased expression:skin:

RGD

PMID:30886104 PMID:30886104

RGD:155646129, RGD:155646129

NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312

G

homeostatic iron regulator

DNA:missense mutation: :p.C282Y (rs1800562) (human)

RGD

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

hepatocyte growth factor

mRNA, protein:increased expression:cornea

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

3-hydroxy-3-methylglutaryl-CoA reductase

RGD

NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703

G

HNF1 homeobox A

ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes
ClinVar Annotator: match by term: Diabetes | ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes

PMID:1985954 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 More...

NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104

G

HNF1 homeobox B

ClinVar Annotator: match by term: Monogenic diabetes

PMID:15930087 PMID:16249435 PMID:18065799 PMID:19639018 PMID:20633866 More...

NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888

G

hepatocyte nuclear factor 4, alpha

ClinVar Annotator: match by term: Monogenic diabetes

PMID:193395 PMID:9243109 PMID:9267996 PMID:9294105 PMID:9313765 More...

NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320

G

haptoglobin

RGD

NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523

G

HtrA serine peptidase 1

associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:decreased expression:lung (human)

RGD

NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379

G

islet cell autoantigen 1

RGD

NCBI chr 4:36,656,475...36,804,705
Ensembl chr 4:36,656,475...36,804,298

G

intercellular adhesion molecule 1

protein:increased expression:serum

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

insulin-like growth factor 1

mRNA,protein:decreased expression:corpus cavernosum:

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor 1 receptor

associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human)

RGD

PMID:16642022 PMID:27411924

RGD:2311506, RGD:152975631

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

interleukin 10

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 2 receptor subunit alpha

RGD

NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697

G

interleukin 33

protein:increased expression:serum,ovary

RGD

NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373

G

interleukin 6

susceptibility

protein:increased expression:extracellular space (human)
mRNA:decreased expression:dendritic cell (mouse)
associated with Dementia; protein:increased expression:brain (human)
DNA:polymorphism:promoter:-174G>C (human)

RGD

PMID:19442860 PMID:19120268 PMID:19139294 PMID:18689695

RGD:2307180, RGD:2307278, RGD:2307273, RGD:2307293

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

insulin 1

ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes

PMID:11921414 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 More...

NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536

G

insulin 2

DNA, protein:missense mutations, altered processing:exons, endoplasmic reticulum:multiple
ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes
CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: marker/mechanism|therapeutic
DNA, protein:missense mutations:exons:multiple
protein:altered localization :endoplasmic reticulum
DNA:point mutation (mouse)

ClinVar
CTD
RGD

PMID:2055425 PMID:7294224 PMID:7624867 PMID:8400068 PMID:11446671 More...

RGD:2317262, RGD:2317259, RGD:2317260, RGD:2311115, RGD:2311109

NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775

G

insulin receptor

DNA:deletions, missense mutation:multiple (human)
ClinVar Annotator: match by term: Monogenic diabetes

PMID:2040394 PMID:2211730 PMID:2983222 PMID:8257688 PMID:8432414 More...

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

G

insulin receptor substrate 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122

G

integrin subunit alpha 2

protein:increased expression:monocyte (human)

RGD

NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481

G

inositol 1,4,5-trisphosphate receptor, type 1

susceptibility

DNA:deletion:exon:p.Q1715_R1731del (mouse)

RGD

NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491

G

potassium inwardly-rectifying channel, subfamily J, member 11

DNA:mutation: :p.V59M (mouse)
ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes
Diabetes Mellitus, permanent neonatal, OMIM:606176

PMID:2270156 PMID:2462236 PMID:8897013 PMID:10338089 PMID:12524280 More...

RGD:2311536, RGD:1625256, RGD:1625279

NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082

G

kinesin family member 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480

G

kinesin family member 5B

CTD Direct Evidence: marker/mechanism

NCBI chr17:51,489,904...51,527,508
Ensembl chr17:51,489,944...51,527,508

G

KLF transcription factor 11

ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes

PMID:15774581 PMID:17130512 PMID:18414213 PMID:18593768 PMID:19122346 More...

NCBI chr 6:41,285,699...41,297,548
Ensembl chr 6:41,285,842...41,297,550

G

leptin

ClinVar Annotator: match by term: Monogenic diabetes

PMID:25741868 PMID:28492532

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

leptin receptor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Monogenic diabetes

PMID:15028607 PMID:25741868 PMID:28492532

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

lamin A/C

ClinVar Annotator: match by term: Monogenic diabetes

PMID:2007407 PMID:2270059 PMID:10580070 PMID:10587585 PMID:10655060 More...

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

LDL receptor related protein 1

treatment

RGD

NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910

G

MAF bZIP transcription factor A

treatment

RGD

NCBI chr 7:107,432,292...107,435,084
Ensembl chr 7:107,433,605...107,434,690

G

mitogen-activated protein kinase kinase kinase 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800

G

macrophage receptor with collagenous structure

protein:decreased expression:Alveolar macrophage

RGD

NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521

G

melanocortin 4 receptor

ClinVar Annotator: match by term: Monogenic diabetes

PMID:9267995 PMID:10078568 PMID:10199800 PMID:10592235 PMID:10903341 More...

NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719

G

microRNA 142

RNA:increased expression:blood:

RGD

NCBI chr10:72,557,864...72,557,950
Ensembl chr10:72,557,857...72,557,967

G

microRNA 145

miRNA:decreased expression:blood plasma (rat)

RGD

NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727

G

microRNA 221

RNA:increased expression:mandible

RGD

NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573

G

microRNA 222

RNA:increased expression:mandible

RGD

NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006

G

microRNA 223

RNA:decreased expression:blood mononuclear cell

RGD

NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996

G

microRNA 29a

exacerbates

RNA:increased expression:blood:
RNA:increased expression:sciatic nerve:

RGD

PMID:32544883 PMID:32544883

RGD:243065126, RGD:243065126

NCBI chr 4:59,650,608...59,650,695

G

microRNA 9

exacerbates

RNA:increased expression:sciatic nerve:

RGD

NCBI chr 9:1,080,274...1,080,383
Ensembl chr 9:1,080,274...1,080,383

G

matrix metallopeptidase 10

RGD

NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748

G

matrix metallopeptidase 3

mRNA:increased expression:retina

RGD

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

mitochondrially encoded ATP synthase membrane subunit 6

CTD Direct Evidence: marker/mechanism

NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L

DNA:deletion: :m.8213_13992 (human)

RGD

NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166

G

metallothionein 2A

CTD Direct Evidence: marker/mechanism

NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784

G

methylenetetrahydrofolate reductase

no_association

DNA:transition:cds:g.677C>T (human)

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

N-acetyltransferase 2

DNA:polymorphism

RGD

NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520

G

neutrophil cytosolic factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646

G

neuronal differentiation 1

ClinVar Annotator: match by term: Monogenic diabetes

PMID:12639765 PMID:18414213 PMID:25741868 PMID:27420379 PMID:28492532 More...

NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649

G

natriuretic peptide B

onset

RGD

NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168

G

nuclear receptor subfamily 0, group B, member 2

mRNA:increased expression:pancreatic islet

RGD

NCBI chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609

G

nuclear receptor subfamily 1, group I, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658

G

nuclear receptor subfamily 1, group I, member 3

CTD Direct Evidence: marker/mechanism

NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906

G

paired box 4

ClinVar Annotator: match by term: Monogenic diabetes

PMID:15509590 PMID:18414213 PMID:25741868 PMID:28492532

NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408

G

pancreatic and duodenal homeobox 1

mRNA, decreased expression:pancreatic islet (mouse)
ClinVar Annotator: match by term: Monogenic diabetes

PMID:10545530 PMID:10545531 PMID:10720084 PMID:11022198 PMID:11270685 More...

NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064

G

perilipin 1

ClinVar Annotator: match by term: Monogenic diabetes

PMID:18414213 PMID:25741868 PMID:28492532

NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828

G

phosphomannomutase 2

ClinVar Annotator: match by term: Diabetes mellitus

PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More...

NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

PMID:16229851 PMID:19022366

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

peroxisome proliferator activated receptor alpha

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

G

peroxisome proliferator-activated receptor gamma

CTD Direct Evidence: therapeutic
ClinVar Annotator: match by term: Monogenic diabetes

PMID:16168052 PMID:19748282 PMID:25741868 PMID:27749844 PMID:28492532

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

protein phosphatase 1, regulatory subunit 3A

ClinVar Annotator: match by term: Monogenic diabetes

PMID:12118251 PMID:25741868 PMID:28492532

NCBI chr 4:42,937,353...42,980,195
Ensembl chr 4:42,939,599...42,980,638

G

prominin 1

RGD

NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527

G

phosphatase and tensin homolog

protein:increased expression, increased phosphorylation:inferior vena cava

RGD

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

pancreas associated transcription factor 1a

ClinVar Annotator: match by term: Monogenic diabetes

PMID:25741868 PMID:25775927 PMID:28492532

NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15885672 PMID:15885672

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

protein tyrosine phosphatase, non-receptor type 1

protein:increased expression:skin of forearm (human)

RGD

NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504

G

protein tyrosine phosphatase, non-receptor type 22

DNA: snp: cds: C1858T

RGD

NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779

G

protein tyrosine phosphatase, receptor type, D

disease_progression

DNA:SNP:intron: (rs17584499) (human)

RGD

NCBI chr 5:90,046,993...90,698,977
NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396

G

Rac family small GTPase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251

G

regulatory factor X, 6

ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes

PMID:15592663 PMID:18414213 PMID:20148032 PMID:25741868 PMID:28492532 More...

NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147

G

serpin family A member 7

RGD

NCBI chr X:102,663,242...102,722,319
Ensembl chr X:102,663,405...102,669,040

G

serpin family E member 1

treatment

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

sex hormone binding globulin

protein:increased expression:plasma

RGD

NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057

G

shieldin complex subunit 2

ClinVar Annotator: match by term: Monogenic diabetes

PMID:25741868 PMID:28492532

NCBI chr16:9,544,940...9,640,323
Ensembl chr16:9,548,660...9,639,965

G

SIM bHLH transcription factor 1

ClinVar Annotator: match by term: Monogenic diabetes

PMID:2152513 PMID:16924270 PMID:21512513 PMID:23778136 PMID:23778139 More...

NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212

G

sirtuin 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260

G

solute carrier family 19 member 2

ClinVar Annotator: match by term: Monogenic diabetes

PMID:25741868 PMID:28492532 PMID:10391221

NCBI chr13:76,601,975...76,616,175
Ensembl chr13:76,601,900...76,616,172

G

solute carrier family 22 member 12

protein:decreased expression:kidney

RGD

NCBI chr 1:203,845,039...203,852,496
Ensembl chr 1:203,845,048...203,853,555

G

solute carrier family 2 member 1

RGD

NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416

G

solute carrier family 2 member 2

ClinVar Annotator: match by term: Monogenic diabetes

PMID:8027028 PMID:8063045 PMID:11810292 PMID:23986439 PMID:25741868 More...

NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933

G

solute carrier family 2 member 3

RGD

NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472

G

suppressor of cytokine signaling 1

ameliorates

RGD

NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

superoxide dismutase 3

RGD

NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990

G

serine peptidase inhibitor, Kazal type 1

ClinVar Annotator: match by term: Diabetes mellitus

PMID:10835640 PMID:15980664 PMID:16849362 PMID:18978175 PMID:23017645 More...

NCBI chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642

G

steroid 5 alpha-reductase 2

RGD

NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112

G

transcription factor 7 like 2

associated with Cystic Fibrosis;DNA:SNP (human)

RGD

NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967

G

tissue factor pathway inhibitor

protein:increased expression:plasma:

RGD

NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880

G

transforming growth factor, beta 1

associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human)

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

thrombospondin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:55,670,394...55,699,789
Ensembl chr 1:55,670,394...55,699,789

G

TIMP metallopeptidase inhibitor 1

protein:decreased expression:glomerulus

RGD

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

G

toll-like receptor 4

protein:increased expression:monocyte

RGD

PMID:19210958 PMID:15632890

RGD:2312485, RGD:1580736

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

TNF receptor superfamily member 8

RGD

NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421

G

tyrosinase

ClinVar Annotator: match by term: Monogenic diabetes

PMID:18463683 PMID:25216246 PMID:27734839 PMID:28492532

NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207

G

uncoupling protein 3

RGD

NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762

G

vitamin D receptor

no_association

DNA:SNPs: :rs731236, rs1544410, rs7975232 (human)

RGD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

vimentin

associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human)

RGD

NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187

G

von Willebrand factor

treatment

RGD

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

G

wolframin ER transmembrane glycoprotein

onset

DNA:missense mutations:cds:p.R456H, p.R611H (rs1801206, rs1801214) (human)
ClinVar Annotator: match by term: Diabetes | ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes

PMID:10521293 PMID:10624825 PMID:10679252 PMID:11161832 PMID:11244483 More...

RGD:8694404, RGD:149735331

NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602

G

wolframin ER transmembrane glycoprotein; ZFN induced mutant 1

onset

RGD

G

zinc finger protein 57

ClinVar Annotator: match by term: Monogenic diabetes

PMID:18414213 PMID:23748067 PMID:25741868 PMID:28492532 PMID:30315371 More...

NCBI chr20:1,521,323...1,534,884
Ensembl chr20:1,521,323...1,529,846

Diabetes Mellitus, Congenital Autoimmune

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421

Diabetes Mellitus, New-Onset after Transplantation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mechanistic target of rapamycin kinase

RGD

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mesencephalic astrocyte-derived neurotrophic factor

ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome

PMID:26077850 PMID:33500254

NCBI chr 8:107,500,856...107,551,595
Ensembl chr 8:107,548,352...107,551,438

diabetic angiopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 3

PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 More...

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

adenylate cyclase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:27,100,089...27,203,686
Ensembl chr 6:27,124,828...27,203,686

G

adenylate cyclase 8

CTD Direct Evidence: marker/mechanism

NCBI chr 7:96,417,310...96,665,911
Ensembl chr 7:96,417,324...96,665,911

G

advanced glycosylation end product-specific receptor

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

argininosuccinate synthase 1

CTD Direct Evidence: therapeutic

NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903

G

bradykinin receptor B1

RGD

NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747

G

caspase 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

C-C motif chemokine ligand 2

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

Cd28 molecule

associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:T cell

RGD

NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685

G

CD40 ligand

protein:increased expression:serum

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

cAMP responsive element modulator

CTD Direct Evidence: marker/mechanism

NCBI chr17:54,238,889...54,305,989
Ensembl chr17:54,239,030...54,305,989

G

C-X-C motif chemokine ligand 12

susceptibility

associated with Diabetic Foot;DNA:polymorphism:3' utr (human)

RGD

NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168

G

erythropoietin

ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 2

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

coagulation factor III, tissue factor

associated with Diabetes Mellitus, Non-Insulin-Dependent
protein:increased expression:plasma

RGD

PMID:16371118 PMID:9285207

RGD:2313861, RGD:2313868

NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668

G

Fas cell surface death receptor

associated with Diabetes Mellitus, Non-Insulin-Dependent

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

associated with Diabetes Mellitus, Non-Insulin-Dependent
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:25381014 PMID:15803113

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

fibronectin 1

RGD

NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

G

GTP cyclohydrolase 1

associated with type 2 diabetes mellitus;DNA:SNV: :C59038T (human)

RGD

NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698

G

glycoprotein Ib platelet subunit alpha

RGD

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

G

glutathione peroxidase 1

cardiovascular complications in type 2 diabetics

RGD

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutathione-disulfide reductase

cardiovascular complications in type 2 diabetics

RGD

NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661

G

homeostatic iron regulator

ClinVar Annotator: match by term: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 | ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 7

PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More...

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

heme oxygenase 1

CTD Direct Evidence: therapeutic

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

haptoglobin

CTD Direct Evidence: marker/mechanism

NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523

G

intercellular adhesion molecule 1

associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta

RGD

PMID:18796303 PMID:18093596

RGD:2313473, RGD:2306988

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

insulin-like growth factor binding protein 1

DNA:SNPs

RGD

NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482

G

interleukin 1 receptor antagonist

ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 4

PMID:25741868 PMID:28492532

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

integrin subunit alpha M

protein:increased expression:neutrophil (human)

RGD

NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503

G

matrix metallopeptidase 14

RGD

NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

nitric oxide synthase 2

associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea

RGD

PMID:19241604 PMID:19587355

RGD:4891384, RGD:2313210

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nitric oxide synthase 3

treatment

associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12124201 PMID:19241604 PMID:29329611

RGD:4891384, RGD:13504708

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

platelet and endothelial cell adhesion molecule 1

associated with Diabetes Mellitus, Experimental;protein:increased tyrosine phosphorylation:conceptus

RGD

NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116

G

plasminogen activator, tissue type

associated with Diabetes Mellitus, Non-Insulin-Dependent

RGD

NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223

G

RNA polymerase I and III subunit C

ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1

NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852

G

paraoxonase 1

associated with Diabetes Mellitus;DNA:polymorphisms: p.L55M, p.Q192R (human)
ClinVar Annotator: match by term: RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO

PMID:9011577 PMID:9661650 PMID:11335891 PMID:11788650 PMID:11889198 More...

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

protein tyrosine kinase 2 beta

treatment

associated with Diabetes Mellitus, Type 2

RGD

NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282

G

retinol binding protein 4

disease_progression

protein:increased expression:blood serum (human)

RGD

NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

RT1 class II, locus Db1

susceptibility

associated with Diabetes Mellitus Type 1;DNA:polymorphism: :HLA-DRB1*03:01(human)

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

serpin family E member 1

susceptibility

associated with Diabetes Mellitus, Type 2;DNA:deletion, haplotype:promoter:g.-676_-674delG (human)

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

serpin family F member 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

superoxide dismutase 1

associated with Diabetes Mellitus, Non-Insulin-Dependent

RGD

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

superoxide dismutase 2

ClinVar Annotator: match by term: SUPEROXIDE DISMUTASE 2 POLYMORPHISM

PMID:8633092 PMID:10425186 PMID:12624725 PMID:15591282 PMID:16538174 More...

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

secreted protein acidic and cysteine rich

associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:mesentery, blood vessel

RGD

NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396

G

thrombospondin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440

G

thrombospondin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:55,670,394...55,699,789
Ensembl chr 1:55,670,394...55,699,789

G

tumor necrosis factor

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:c.-308G>A (human)

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

vascular endothelial growth factor A

protein:increased expression:cochlea:
ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1

OMIM
ClinVar
RGD

PMID:11978667 PMID:19241604

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

Diabetic Cardiomyopathies

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-2-macroglobulin

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786

G

angiotensin I converting enzyme

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

angiotensin converting enzyme 2

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977

G

acyl-CoA thioesterase 1

associated with type 2 diabetes mellitus

RGD

NCBI chr 6:103,636,173...103,644,167
Ensembl chr 6:103,636,041...103,644,163

G

adiponectin, C1Q and collagen domain containing

associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum

RGD

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

adiponectin receptor 1

associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum

RGD

NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241

G

advanced glycosylation end product-specific receptor

treatment

associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:heart (rat)

RGD

PMID:23251674 PMID:23251674

RGD:7244283, RGD:7244283

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 2

CTD Direct Evidence: marker/mechanism

PMID:15587404 PMID:16025228

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

AKT serine/threonine kinase 1

ameliorates

RGD

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

apolipoprotein A1

CTD Direct Evidence: therapeutic

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

activating transcription factor 6

ameliorates

RGD

NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177

G

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

associated with Diabetes Mellitus, Experimental
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16685413 PMID:21441944

NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101

G

ATPase copper transporting alpha

treatment

RGD

NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354

G

BCL2-associated agonist of cell death

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823

G

BCL2 associated X, apoptosis regulator

ameliorates

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

BCL2, apoptosis regulator

treatment

associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:myocardium (mouse)

RGD

PMID:21296063 PMID:21474815

RGD:10053697, RGD:11522727

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

caspase 12

treatment

associated with Experimental Diabetes Mellitus

RGD

NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037

G

caspase 3

treatment

RGD

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

caspase 8

treatment

RGD

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

G

caspase 9

treatment

RGD

NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626

G

calsequestrin 2

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267

G

calcium-sensing receptor

protein:decreased expression:myocardium (rat)

RGD

NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811

G

cofilin 1

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587

G

catenin beta 1

mRNA,protein:increased expression:heart

RGD

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

DNA-damage inducible transcript 3

ameliorates

RGD

NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201

G

erb-b2 receptor tyrosine kinase 2

associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium

RGD

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

erb-b2 receptor tyrosine kinase 4

associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium

RGD

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

G

H19 imprinted maternally expressed transcript

ameliorates

RGD

PMID:27796346 PMID:27903964 PMID:36044268

RGD:156430325, RGD:156451660, RGD:156430337

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

heme oxygenase 1

treatment

associated with Diabetes Mellitus, Experimental

RGD

PMID:23853776 PMID:23453443

RGD:9586347, RGD:10412713

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

heat shock protein 90 beta family member 1

ameliorates

RGD

NCBI chr 7:21,110,431...21,124,762
Ensembl chr 7:21,110,457...21,124,788

G

heat shock protein family A (Hsp70) member 5

ameliorates

RGD

NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891

G

insulin-like growth factor 1

CTD Direct Evidence: therapeutic

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

insulin-like growth factor 2 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501

G

interleukin 10

treatment

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

insulin 1

CTD Direct Evidence: therapeutic

NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536

G

insulin 2

CTD Direct Evidence: therapeutic

NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775

G

kallikrein 1

CTD Direct Evidence: therapeutic

NCBI chr 1:94,642,644...94,646,760
Ensembl chr 1:94,642,687...94,646,754

G

leptin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

mitogen activated protein kinase kinase kinase 7

associated with type 2 diabetes mellitus;protein:decreased expression:myocardium of ventricle (rat)

RGD

NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597

G

mitogen activated protein kinase 1

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616

G

mitogen activated protein kinase 3

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863

G

microRNA 140

ameliorates

RGD

PMID:36044268 PMID:31078585

RGD:156430337, RGD:329347833

NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675

G

mechanistic target of rapamycin kinase

ameliorates

RGD

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

myosin light chain kinase 2

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728

G

NFE2 like bZIP transcription factor 2

treatment
ameliorates

associated with Diabetes Mellitus, Experimental

RGD

PMID:23453443 PMID:36044268 PMID:23353773

RGD:10412713, RGD:156430337, RGD:10412721

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

nitric oxide synthase 3

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

notch receptor 1

treatment

RGD

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

natriuretic peptide A

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351

G

neuregulin 1

treatment

associated with Diabetes Mellitus, Experimental;protein:decreased expresssion:left ventricle myocardium

RGD

PMID:22285193 PMID:32828943

RGD:10449013, RGD:405650202

NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

ameliorates

RGD

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

phospholamban

associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle

RGD

NCBI chr20:32,629,537...32,639,559

G

peroxisome proliferator activated receptor alpha

Strain: ZDF

RGD

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

G

ryanodine receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142

G

solute carrier family 25 member 4

CTD Direct Evidence: therapeutic

NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733

G

solute carrier family 8 member A1

treatment

RGD

NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

telomerase reverse transcriptase

treatment

associated with Diabetes Mellitus, Type 2

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

xanthine dehydrogenase

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268

diabetic cataract

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutathione-disulfide reductase

RGD

NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661

Diabetic Cystopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apoptosis inducing factor, mitochondria associated 1

protein:increased expression:nuclei:

RGD

NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256

G

BCL2-associated agonist of cell death

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823

G

caspase 12

associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder detrusor smooth muscle

RGD

NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037

Diabetic Embryopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas associated via death domain

RGD

NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653

diabetic encephalopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end product-specific receptor

treatment

associated with Diabetes Mellitus, Experimental

RGD

PMID:23529380 PMID:24291733

RGD:7244255, RGD:8553040

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

amyloid beta precursor protein

treatment

associated with type 2 diabetes mellitus

RGD

NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561

G

dual specificity phosphatase 1

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr10:16,680,478...16,683,275

G

glycogen synthase kinase 3 beta

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646

G

insulin degrading enzyme

associated with type 2 diabetes mellitus

RGD

NCBI chr 1:235,002,984...235,102,448
Ensembl chr 1:234,995,351...235,102,440

G

nerve growth factor

treatment

associated with Diabetes Mellitus, Experimental
associated with Experimental Diabetes Mellitus

RGD

PMID:23528019 PMID:32681844

RGD:7242845, RGD:402463968

NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452

G

nerve growth factor receptor

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518

G

peroxisome proliferator-activated receptor gamma

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

Diabetic Foot

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

protein:decreased expression:plasma

RGD

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

advanced glycosylation end product-specific receptor

associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood

RGD

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

C-reactive protein

disease_progression

protein:increased expression:blood:

RGD

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

gap junction protein, alpha 1

protein:increased expression:dermis

RGD

NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582

G

H19 imprinted maternally expressed transcript

ameliorates

RNA:increased expression:foot (human)

RGD

PMID:33174326 PMID:33174326

RGD:156451663, RGD:156451663

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

hypoxia inducible factor 1 subunit alpha

mRNA,protein:decreased expression:blood serum, foot (human)

RGD

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

G

heat shock protein family A (Hsp70) member 1B

severity

DNA:polymorphism: :1538G>A (human)

RGD

NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240

G

insulin-like growth factor 1

protein:decreased expression:fibroblast of dermis,stratum basale of epidermis:

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

interleukin 15

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell

RGD

NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820

G

integrin subunit alpha M

protein:increased expression:pes (human)

RGD

NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503

G

mannose binding lectin 2

protein:increased expression:serum:

RGD

NCBI chr 1:228,016,439...228,024,736

G

microRNA 17

NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712

G

microRNA 210

miRNA:increased expression:blood serum, foot (human)

RGD

NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454

G

matrix metallopeptidase 9

severity

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

notch receptor 1

protein:increased expression:skin, epidermis:

RGD

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

plasminogen activator, tissue type

RGD

NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223

G

pentraxin 3

protein:decreased expression:plasma (human)

RGD

NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323

G

toll-like receptor 4

susceptibility

DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human);

RGD

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

diabetic ketoacidosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 2

RGD

NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468

G

insulin 2

CTD Direct Evidence: therapeutic

NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775

G

insulin receptor

RGD

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

G

paired box 4

ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone | ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to

PMID:9536098 PMID:15509590 PMID:17576681 PMID:18414213 PMID:25741868 More...

NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408

G

serpin family A member 7

protein:decreased expression:serum

RGD

NCBI chr X:102,663,242...102,722,319
Ensembl chr X:102,663,405...102,669,040

Diabetic Nephropathies

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment
no_association
susceptibility

CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2;DNA:insertion/deletion
associated with Diabetes Mellitus, Type 1;DNA:insertion/deletion
associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human)

CTD
RGD

PMID:7909524 PMID:10099885 PMID:10857950 PMID:23733546 PMID:28468961 More...

RGD:2311449, RGD:11039044, RGD:8548885, RGD:8548872, RGD:7829780, RGD:7829777, RGD:1331525

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

angiotensin converting enzyme 2

no_association

associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphisms: :multiple (human)
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA, protein:decreased expression:kidney
mRNA, protein:altered expression:kidney
associated with Diabetes Mellitus, Experimental

CTD
RGD

PMID:12623933 PMID:17600118 PMID:20844835 PMID:18235039 PMID:19034303 More...

RGD:2313800, RGD:2313797, RGD:2313796, RGD:2313800

NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977

G

actinin, alpha 1

mRNA:increased expression:nephron tubule (human)

RGD

NCBI chr 6:98,998,553...99,093,334
Ensembl chr 6:98,998,556...99,093,251

G

activin A receptor type 1

associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney

RGD

NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241

G

adiponectin, C1Q and collagen domain containing

disease_progression
no_association

protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1501299 (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs2241766 (human)

CTD
RGD

PMID:17942768 PMID:21945031 PMID:17970779 PMID:23260797 PMID:23260797

RGD:5686409, RGD:8694475, RGD:8694443, RGD:8694443

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

adenosine A1 receptor

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801

G

adrenoceptor alpha 2B

associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism (human)

RGD

NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355

G

adrenoceptor beta 3

associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human)

RGD

NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552

G

advanced glycosylation end product-specific receptor

susceptibility
treatment

associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex, glomerulus
associated with Diabetes Mellitus, Type 2;protein:increased expression:renal cortex (mouse)
associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :1704G>T (human)
associated with Diabetes Mellitus;DNA:polymorphisms, haplotype:cds, intron:p.G82S, g.2184A>G (rs2070600, rs3134940) (human)
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum

RGD

PMID:19142024 PMID:12651605 PMID:14747204 PMID:21533139 PMID:23091285 More...

RGD:2325651, RGD:7243248, RGD:8695982, RGD:7244187, RGD:7244174, RGD:7243852, RGD:7243248

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

angiotensinogen

disease_progression
no_association

CTD Direct Evidence: therapeutic
associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :p.M235T (human)
associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human)

CTD
RGD

PMID:17890855 PMID:20383342 PMID:15118671 PMID:19014923 PMID:11938025 More...

RGD:1331525, RGD:11039058, RGD:8548885, RGD:8548872, RGD:8548868

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 1a

associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :1166A>C (human)

RGD

PMID:12172324 PMID:12476891

RGD:6903861, RGD:8548891

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

angiotensin II receptor, type 2

associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney

RGD

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

alpha-2-HS-glycoprotein

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum

RGD

NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999

G

aldo-keto reductase family 1 member B1

susceptibility

associated with Diabetes Mellitus, Type 1;DNA:promoter:repeat:g.?(AC)n (human)

RGD

PMID:9215310 PMID:9000706

RGD:734542, RGD:8548641

NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157

G

albumin

associated with Metabolic Syndrome X;protein:increased expression:urine
CTD Direct Evidence: therapeutic
associated with Diabetes Mellitus, Experimental;protein:increased expression:urine
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine

CTD
RGD

PMID:16380483 PMID:19424163 PMID:21441310 PMID:19397971 PMID:19246226

RGD:2306882, RGD:5135032, RGD:2306885, RGD:2306886

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

alpha-kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157

G

amine oxidase, copper containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:86,272,757...86,280,702

G

apolipoprotein A1

RGD

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein A2

associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum

RGD

PMID:11126402 PMID:9829487

RGD:2313958, RGD:2313960

NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355

G

apolipoprotein B

associated with Diabetes Mellitus, Non-Insulin-Dependent

RGD

NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497

G

apolipoprotein C1

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:very-low-density lipoprotein particle

RGD

NCBI chr 1:79,347,057...79,350,340
Ensembl chr 1:79,346,136...79,350,375

G

apolipoprotein C3

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-455T>C

RGD

NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583

G

apolipoprotein E

susceptibility
no_association

DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human)
associated with Diabetes Mellitus, type 1;
associated with Diabetes Mellitus, Experimental

RGD

PMID:21127830 PMID:11495633 PMID:22859852

RGD:6903840, RGD:7771553, RGD:6902935

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

apolipoprotein H

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum

RGD

NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329

G

aquaporin 2

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased secretion:urine

RGD

NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468

G

arginase 2

RGD

NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378

G

agouti signaling protein

CTD Direct Evidence: marker/mechanism

NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171

G

ATP synthase F1 subunit beta

treatment

mRNA:decreased expression:renal glomerulus (rat)

RGD

NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273

G

Axl receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12644472 PMID:15619028

NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265

G

antizyme inhibitor 1

treatment

RGD

NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578

G

bradykinin receptor B2

susceptibility

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497

G

brain-derived neurotrophic factor

RGD

NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615

G

beclin 1

protein:increased expression:kidney

RGD

NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742

G

bone gamma-carboxyglutamate protein

associated with Diabetes Mellitus, Type2; protein:increased expression:serum:

RGD

NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495

G

bone morphogenetic protein 7

RGD

NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788

G

complement C3

associated with Diabetes Mellitus, Type 1; protein:increased expression:kidney:
associated with Diabetes Mellitus, Type 2

RGD

PMID:19200691 PMID:25662584

RGD:7183082, RGD:11040807

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement C5

associated with Diabetes Mellitus, Type 2

RGD

NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994

G

calcium voltage-gated channel subunit alpha1 B

treatment

RGD

NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091

G

calpain 10

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494

G

caspase 12

associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney

RGD

NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037

G

caspase 3

treatment

associated with Diabetes Mellitus, Experimental;protein:increased activity:kidney
associated with Diabetes Mellitus, Experimental
associated with type 2 diabetes mellitus

RGD

PMID:19601660 PMID:29606028 PMID:28456626

RGD:2311440, RGD:13792586, RGD:13782304

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

caspase 7

treatment

associated with type 2 diabetes mellitus

RGD

NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729

G

caspase 8

treatment

associated with type 2 diabetes mellitus
associated with Diabetes Mellitus, Experimental

RGD

PMID:28456626 PMID:29606028

RGD:13782304, RGD:13792586

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

G

caspase 9

treatment

associated with Diabetes Mellitus, Experimental

RGD

PMID:30038056 PMID:29606028

RGD:13782342, RGD:13792586

NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626

G

catalase

ISO
IMP
IDA
IEP

rat gene in db/db mice
associated with experimentally induced diabetes

RGD

PMID:22315314 PMID:20299359 PMID:21525431 PMID:21686137

RGD:7205651, RGD:7205676, RGD:7205665, RGD:7205662

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

caveolin 1

mRNA:increased expression:nephron tubule (human)

RGD

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

C-C motif chemokine ligand 11

associated with Diabetes Mellitus, Type 2

RGD

NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926

G

C-C motif chemokine ligand 2

susceptibility
disease_progression

associated with Diabetes Mellitus, Experimental
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney
protein:increased expression:urine
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine
associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:kidney

CTD
RGD

PMID:16374426 PMID:17968528 PMID:19369290 PMID:19409809 PMID:19097668 More...

RGD:2306991, RGD:2306980, RGD:2306979, RGD:2306982, RGD:2306989

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 20

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629

G

C-C motif chemokine ligand 5

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-28C>G
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:urine

RGD

PMID:12610055 PMID:18326229

RGD:2307107, RGD:2307063

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

cellular communication network factor 2

associated with Diabetes Mellitus, Experimental; protein:increased expression:kidney, glomerulus (rat)
associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat)

RGD

PMID:19895808 PMID:19065061

RGD:2314366, RGD:2314604

NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734

G

cyclin E1

protein:increased expression:kidney

RGD

NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101

G

C-C motif chemokine receptor 2

no_association

associated with Diabetes Mellitus, Insulin-Dependent
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.V64I (human)

RGD

PMID:17631861 PMID:11756347

RGD:2313558, RGD:2313563

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

C-C motif chemokine receptor 5

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:59029G>A (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP: :59029G>A (human)

RGD

PMID:12610055 PMID:17428349

RGD:2307107, RGD:8549756

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

CD36 molecule

protein:increased expression:renal proximal tubule, endothelial cell

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CD38 molecule

associated with Diabetes Mellitus, Experimental

RGD

PMID:19073639 PMID:19300526

RGD:2307227, RGD:2307228

NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986

G

CD40 ligand

associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:serum

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

cyclin-dependent kinase inhibitor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

cyclin-dependent kinase inhibitor 1B

mRNA, protein:increased expression:kidney, glomerulus

RGD

PMID:15698433 PMID:16805985

RGD:2293628, RGD:2293619

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

G

cofilin 1

associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:renal glomerulus (rat)

RGD

NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587

G

clusterin

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

carnosine dipeptidase 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17942768 PMID:21393041 PMID:21573905 PMID:21393041

NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765

G

carnosine dipeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922

G

collagen type I alpha 1 chain

associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal glomerulus (rat)

RGD

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

collagen type I alpha 2 chain

mRNA:increased expression:nephron tubule (human)

RGD

NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867

G

collagen type IV alpha 1 chain

associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA:increased expression:kidney
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental

CTD
RGD

PMID:18682491 PMID:27997345 PMID:19466391 PMID:17582205

RGD:2311340, RGD:2311342

NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412

G

collagen type VI alpha 3 chain

mRNA:increased expression:nephron tubule (human)

RGD

NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471

G

carboxypeptidase B2

susceptibility

DNA:SNP:cds:1040C>T(human)
protein:increased expression:plasma

RGD

PMID:22932273 PMID:12574207

RGD:7243116, RGD:7243123

NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556

G

cAMP responsive element binding protein 1

susceptibility

RGD

NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816

G

C-reactive protein

disease_progression

associated with Diabetes Mellitus, Type 1
associated with Diabetes Mellitus, Type 2;protein:increased expression:urine

RGD

PMID:22885250 PMID:22590912

RGD:6906965, RGD:6906967

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

colony stimulating factor 1 receptor

disease_progression

associated with Diabetes Mellitus, Type 2
mRNA,protein:increased expression:kidney (rat)

RGD

PMID:19466391 PMID:32141565

RGD:2311340, RGD:151665767

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

G

cystatin C

protein:increased expression:plasma (rat)
protein:increased expression:serum (human)

RGD

PMID:18946178 PMID:19132849

RGD:2314297, RGD:2314328

NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822

G

cytotoxic T-lymphocyte-associated protein 4

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:plasma:

RGD

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

cathepsin D

CTD Direct Evidence: marker/mechanism

NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488

G

cubilin

RGD

NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231

G

C-X-C motif chemokine ligand 10

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
associated with Diabetes Mellitus, Insulin-Dependent

RGD

PMID:17425653 PMID:19073786

RGD:2311359, RGD:2311357

NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975

G

C-X-C motif chemokine receptor 2

treatment

associated with Diabetes Mellitus, Type 2

RGD

NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425

G

cytochrome b-245 alpha chain

associated with Diabetes Mellitus, Type 2;DNA:SNP: :242C>T (human)

RGD

NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721

G

cytochrome P450, family 11, subfamily b, polypeptide 2

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-344C>T (human)

RGD

NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004

G

cytochrome P450, family 11, subfamily b, polypeptide 3

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-344C>T (human)

NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048

G

cytochrome P450, family 19, subfamily a, polypeptide 1

treatment

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758

G

cytochrome P450, family 2, subfamily j, polypeptide 4

associated with Diabetes Mellitus, Experimental;

RGD

NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794

G

decorin

associated with Diabetes Mellitus, Insulin-Dependent
protein:increased expression:plasma, urine
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Insulin-Dependent;mRNA, protein:decreased expression:kidney cortex, glomerulus

RGD

PMID:12187087 PMID:11259366 PMID:17884968 PMID:16868749

RGD:2311415, RGD:2311416, RGD:2311411, RGD:2311412

NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270

G

diacylglycerol kinase, eta

CTD Direct Evidence: marker/mechanism

NCBI chr15:53,981,079...54,150,470
Ensembl chr15:53,991,481...54,150,706

G

dickkopf WNT signaling pathway inhibitor 1

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202

G

endothelin 1

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased secretion:plasma (human)

RGD

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

endothelin receptor type A

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049

G

epidermal growth factor

RGD

NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064

G

engulfment and cell motility 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:44,286,495...44,822,668
Ensembl chr17:44,286,485...44,822,788

G

endoglin

associated with Diabetes Mellitus, Insulin-Dependent; mRNA:increased expression:kidney

RGD

NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230

G

glutamyl aminopeptidase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:217,781,985...217,851,947
Ensembl chr 2:217,782,005...217,851,947

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

RGD

NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715

G

E1A binding protein p300

treatment

associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat)

RGD

PMID:19268536 PMID:19268536

RGD:2311716, RGD:2311716

NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

endothelial PAS domain protein 1

treatment

associated with Diabetes Mellitus, Type 2
associated with Diabetes Mellitus, Experimental

RGD

PMID:17967803 PMID:17914354

RGD:10395374, RGD:10395377

NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228

G

epoxide hydrolase 2

associated with Diabetes Mellitus, Experimental

RGD

NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615

G

erythropoietin

associated with Diabetes Mellitus, Experimental;
DNA:snp:promoter:-1125T>G(rs1617640)(human)

RGD

PMID:19619913 PMID:19356735 PMID:18458324

RGD:2313832, RGD:2313833, RGD:2313838

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

ERBB receptor feedback inhibitor 1

associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney:

RGD

NCBI chr 5:161,323,981...161,337,289
Ensembl chr 5:161,323,998...161,337,282

G

estrogen receptor 1

associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:snps:introns: multiple(human)

RGD

PMID:16464734 PMID:18305958

RGD:2314020, RGD:2314005

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

coagulation factor II, thrombin

disease_progression

protein:increased expression:plasma (human)
DNA:polymorphism: :20210G>A(human)

RGD

PMID:21955218 PMID:14983223 PMID:21574459

RGD:6893574, RGD:2313643, RGD:6893575

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

coagulation factor III, tissue factor

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma

RGD

NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668

G

fatty acid binding protein 2

RGD

NCBI chr 2:211,040,032...211,044,089
Ensembl chr 2:211,040,032...211,044,089

G

Fas cell surface death receptor

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:kidney
associated with Diabetes Mellitus, Experimental;protein:increased expression:renal distal tubule (rat)
mRNA:increased expression:kidney

RGD

PMID:17851466 PMID:12861046 PMID:18287563

RGD:2315705, RGD:8686421, RGD:2312739

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fas ligand

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:kidney

RGD

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

fibrillin 1

onset

associated with Diabetes Mellitus, Experimental

RGD

PMID:16395273 PMID:16380460

RGD:7365077, RGD:7365080

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

G

F-box and WD repeat domain containing 12

CTD Direct Evidence: marker/mechanism

NCBI chr 8:109,782,315...109,802,086
Ensembl chr 8:109,786,815...109,801,813

G

fibroblast growth factor 2

mRNA:increased expression:kidney

RGD

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

fibroblast growth factor 21

protein:increased expression:serum:

RGD

NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454

G

fibroblast growth factor 23

severity

mRNA,protein:increased expression:kidney:

RGD

NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821

G

Fms related receptor tyrosine kinase 1

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine

RGD

NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626

G

fibromodulin

mRNA,protein:increased expression:Kidney Glomerulus
associated with Diabetes Mellitus, Insulin-Dependent;mRNA:decreased expression:kidney cortex

RGD

PMID:11259366 PMID:16868749

RGD:2311416, RGD:2311412

NCBI chr13:45,493,517...45,504,134
Ensembl chr13:45,493,517...45,504,133

G

fibronectin 1

treatment

associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney
mRNA:increased expression:nephron tubule (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:kidney cortex:

CTD
RGD

PMID:24413998 PMID:16301823 PMID:35592524 PMID:22736507

RGD:7206843, RGD:401851916, RGD:10402169

NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

G

FTO, alpha-ketoglutarate dependent dioxygenase

susceptibility

associated with diabetes mellitus;DNA:SNP: :rs17817449 (human)
associated with type 2 diabetes mellitus;DNA:SNPs: :rs1121980, rs1421085, rs17817449 (human)
associated with type 2 diabetes mellitus;DNA:SNP: :rs7204609 (human)

RGD

PMID:29154870 PMID:29410390 PMID:34134115

RGD:329813082, RGD:329901856, RGD:329813084

NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083

G

alpha-L-fucosidase 1

associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased activity;urine

RGD

NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972

G

glucose-6-phosphate dehydrogenase

treatment

associated with Hypertension

RGD

NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801

G

growth arrest specific 6

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12644472 PMID:15619028

NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904

G

glycine amidinotransferase

RGD

NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129

G

glutamine fructose-6-phosphate transaminase 1

RGD

NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471

G

glutamine-fructose-6-phosphate transaminase 2

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr

RGD

NCBI chr10:34,115,005...34,161,329
Ensembl chr10:34,115,052...34,161,329

G

growth hormone receptor

susceptibility

associated with Diabetes Mellitus
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney

RGD

PMID:10541297 PMID:10990443 PMID:10614635 PMID:15066219

RGD:2307370, RGD:2307368, RGD:2307369, RGD:2307364

NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735

G

gastric inhibitory polypeptide receptor

RGD

NCBI chr 1:78,804,287...78,814,462
Ensembl chr 1:78,805,593...78,814,462

G

glyoxalase 1

no_association

DNA:SNP:promoter:-7C>T (human)

PMID:21738003 PMID:21738003

RGD:7242569, RGD:7242569

NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649

G

glutathione peroxidase 1

treatment

protein:increased expression:glomerulus
associated with Experimental Diabetes Mellitus
associated with Diabetes Mellitus, Type 1

RGD

PMID:17609286 PMID:32592386 PMID:16249459

RGD:2306609, RGD:401827869, RGD:11068479

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutathione peroxidase 3

treatment

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:serum (human)
associated with Experimental Diabetes Mellitus

RGD

PMID:17269729 PMID:32592386

RGD:2312635, RGD:401827869

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

G protein-coupled receptor kinase 2

treatment

RGD

NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582

G

G protein-coupled receptor kinase 3

treatment

RGD

NCBI chr12:43,624,778...43,735,375
Ensembl chr12:43,624,897...43,731,262

G

G protein-coupled receptor kinase 4

protein:decreased expression:cortex of kidney (rat)

RGD

NCBI chr14:75,998,554...76,080,808
Ensembl chr14:76,006,218...76,080,693

G

G protein-coupled receptor kinase 6

treatment

RGD

NCBI chr17:9,177,018...9,192,813
Ensembl chr17:9,177,019...9,192,644

G

glycogen synthase kinase 3 beta

treatment

RGD

NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646

G

glutathione-disulfide reductase

treatment

associated with Diabetes Mellitus, Type 2;protein:decreased activity:kidney
associated with Diabetes Mellitus, Experimental

RGD

PMID:23626958 PMID:24947049

RGD:7257582, RGD:10401899

NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661

G

glutathione S-transferase mu 1

no_association

associated with Diabetes Mellitus, Type 1;DNA:deletion:cds: (human)

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

disease_progression
no_association

associated with Diabetes Mellitus, Type 2;DNA:deletion:cds (human)
associated with Diabetes Mellitus, Type 1;DNA:deletion:cds (human)

RGD

PMID:15927971 PMID:19752172

RGD:2306630, RGD:7495818

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

hyaluronan synthase 2

associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal medulla

RGD

NCBI chr 7:88,113,326...88,139,337
Ensembl chr 7:88,113,326...88,128,933

G

hepatitis A virus cellular receptor 1

disease_progression

protein:increased expression:plasma
associated with Diabetes mellitus, Type 1;
associated with Diabetes Mellitus,Type 2;protein:increased expression:urine:

RGD

PMID:22997966 PMID:20980978 PMID:22015481

RGD:7245497, RGD:7246890, RGD:7245960

NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698

G

histone deacetylase 2

mRNA,protein:increased expression:kidney:

RGD

PMID:24717296 PMID:24717296 PMID:24717296

RGD:9590311, RGD:9590311, RGD:9590311

NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609

G

histone deacetylase 4

treatment

mRNA,protein:increased expression:kidney:

RGD