RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: gestational diabetes
Accession: DOID:11714
browse the term
Definition: A diabetes mellitus that manifests during pregnancy. (DO)
Synonyms: exact_synonym: GDM; Pregnancy-Induced Diabetes; gestational diabetes mellitus; maternal gestational diabetes mellitus
narrow_synonym: GESTATIONAL DIABETES MELLITUS UNCONTROLLED
primary_id: MESH:D016640
xref: ICD10CM:O24.4 ; NCI:C34942
For additional species annotation, visit the
Alliance of Genome Resources .
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Adipoq
adiponectin, C1Q and collagen domain containing
treatment
ISO IEP
protein:decreased expression:serum CTD Direct Evidence: marker/mechanism
CTD
PMID:15126557 , PMID:19626510 , PMID:23608331
RGD:2313236 , RGD:8695950
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Ahsg
alpha-2-HS-glycoprotein
ISO
protein:increased expression:serum
RGD
PMID:12153747
RGD:2313814
NCBI chr11:81,711,269...81,717,594
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Apod
apolipoprotein D
ISO
RGD
PMID:6828336
RGD:2311180
NCBI chr11:72,705,204...72,726,263
Ensembl chr11:72,705,129...72,726,301
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Ar
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20421132
NCBI chr X:67,656,253...67,828,998
Ensembl chr X:67,656,253...67,829,026
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Bnip3l
BCL2 interacting protein 3 like
IEP
RGD
PMID:26512955
RGD:11564338
NCBI chr15:43,643,897...43,667,123
Ensembl chr15:43,643,897...43,667,029
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Ccl2
C-C motif chemokine ligand 2
ISO
RGD
PMID:18702087
RGD:2306986
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Cdkal1
CDK5 regulatory subunit associated protein 1-like 1
ISO
DNA:snp: :rs7756992,rs7754840(human)
RGD
PMID:19002430
RGD:2313946
NCBI chr17:36,451,031...37,157,882
Ensembl chr17:36,451,058...37,295,069
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20421132
NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
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Dcn
decorin
ISO
RGD
PMID:16630654
RGD:2311413
NCBI chr 7:38,742,250...38,782,282
Ensembl chr 7:38,742,051...38,782,323
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20421132
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Foxm1
forkhead box M1
ISO
RGD
PMID:19833884
RGD:2315927
NCBI chr 4:161,685,236...161,697,633
Ensembl chr 4:161,685,258...161,696,305
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G6pc1
glucose-6-phosphatase catalytic subunit 1
ISO
protein:increased activity:liver
RGD
PMID:12595588
RGD:2315965
NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
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Gad2
glutamate decarboxylase 2
ISO
RGD
PMID:18588707
RGD:2313295
NCBI chr17:89,171,576...89,234,770
Ensembl chr17:89,171,250...89,238,040
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Gck
glucokinase
ISO
DNA:SNP:promoter:A allele of -30G>A associated with GDM (p=0.008) (human) ClinVar Annotator: match by term: Gestational diabetes ClinVar Annotator: match by term: gestational diabetes ClinVar Annotator: match by term: Diabetes mellitus, gestational DNA:point mutation:exon:S131P
ClinVar
PMID:8068341 PMID:8132752 PMID:8433729 PMID:8446612 PMID:10525657 PMID:10754480 PMID:12442280 PMID:14517946 PMID:14517956 PMID:15102714 PMID:15305805 PMID:16731834 PMID:17186219 PMID:17389332 PMID:17937063 PMID:18056790 PMID:18414213 PMID:20337973 PMID:21395678 PMID:21831042 PMID:21921030 PMID:21978167 PMID:22028181 PMID:22065275 PMID:22820548 PMID:23771172 PMID:24033266 PMID:24568320 PMID:24578721 PMID:25082184 PMID:25306193 PMID:25494859 PMID:25555642 PMID:25741868 PMID:26467025 PMID:29510678 , PMID:16752173 , PMID:8495817
RGD:2301873 , RGD:1601293
NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
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Ggt1
gamma-glutamyltransferase 1
ISO
protein:increased activity:blood
RGD
PMID:18937705
RGD:2315598
NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
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Gh1
growth hormone 1
ISO
protein:increased expression:
RGD
PMID:3519044
RGD:2315681
NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
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Gpx1
glutathione peroxidase 1
IDA
RGD
PMID:22342560
RGD:11353780
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
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Hnf1a
HNF1 homeobox A
ISO
DNA:SNP:CDS:slightly increased frequency of the L allele of the I27L polymorphism (p=0.048) (human)
RGD
PMID:16752173
RGD:2301873
NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
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Icam1
intercellular adhesion molecule 1
ISO
protein:decreased expression:placenta protein:increased expression:decidua, endothelial cell
RGD
PMID:19343356 , PMID:17990298
RGD:2313469 , RGD:2313476
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Igf1r
insulin-like growth factor 1 receptor
IEP
RGD
PMID:22241286
RGD:10046048
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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Il10
interleukin 10
ISO
protein:decreased expression:serum
RGD
PMID:18446686
RGD:2308947
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il6
interleukin 6
ISO
protein:increased expression:extracellular space (human)
RGD
PMID:19408175
RGD:2307186
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Inhba
inhibin subunit beta A
ISO
protein:increased expression:serum protein:decreased expression:serum
RGD
PMID:7852520 , PMID:14663836
RGD:2313385 , RGD:2313391
NCBI chr17:51,894,869...51,919,998
Ensembl chr17:51,898,217...51,912,496
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Ins2
insulin 2
ISO
protein:increased expression:serum
RGD
PMID:19269197
RGD:2311131
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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Insr
insulin receptor
ISO IEP
mRNA, protein:increased expression:placenta (human)
RGD
PMID:19179458 , PMID:22241286
RGD:2307336 , RGD:10046048
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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Lep
leptin
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD
PMID:20421132 , PMID:19269197
RGD:2311131
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20421132
NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
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Mbl2
mannose binding lectin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15472209
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Men1
menin 1
ISO
RGD
PMID:17975067
RGD:2317319
NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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Met
MET proto-oncogene, receptor tyrosine kinase
ISS
MouseDO
NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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Mir133a1
microRNA 133a-1
IEP
RGD
PMID:26512955
RGD:11564338
NCBI chr18:2,052,478...2,052,564
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Plat
plasminogen activator, tissue type
ISO
RGD
PMID:17259140
RGD:2311668
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Retn
resistin
ISO
protein:increased expression:serum
RGD
PMID:19408175
RGD:2307186
NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
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Sirt3
sirtuin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23956348
NCBI chr 1:213,613,502...213,636,061
Ensembl chr 1:213,613,513...213,635,546
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23956348 PMID:30738174
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Srrm1
serine and arginine repetitive matrix 1
ISO
protein:increased glycation:placenta (human)
RGD
PMID:24308201
RGD:11038724
NCBI chr 5:153,675,619...153,708,187
Ensembl chr 5:153,675,624...153,708,170
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Tcf7l2
transcription factor 7 like 2
susceptibility
ISO
DNA:SNP (human)
RGD
PMID:18984664
RGD:2312455
NCBI chr 1:276,686,911...276,730,517
Ensembl chr 1:276,659,542...276,730,514 Ensembl chr 1:276,659,542...276,730,514
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Uts2
urotensin 2
susceptibility
ISO
DNA:polymorphism
RGD
PMID:17327028
RGD:2306802
NCBI chr 5:168,078,748...168,084,133
Ensembl chr 5:168,078,748...168,084,145
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Rnf135
ring finger protein 135
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD ClinVar
PMID:17632510 PMID:21681106 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456
NCBI chr10:67,531,989...67,551,237
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Hnf4a
hepatocyte nuclear factor 4, alpha
ISO IEP
DNA:mutations: :
RGD
PMID:17407387 , PMID:19435144
RGD:12904698 , RGD:12904767
NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
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Igf1
insulin-like growth factor 1
ISO
protein:increased expression:serum:
RGD
PMID:17113804
RGD:12743591
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:increased expression:serum:
RGD
PMID:17113804
RGD:12743591
NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
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Lipc
lipase C, hepatic type
IEP
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat)
RGD
PMID:10600655
RGD:2308786
NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
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Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism
ClinVar
PMID:25741868
NCBI chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
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Dis3l2
DIS3-like 3'-5' exoribonuclease 2
ISO
ClinVar Annotator: match by term: Perlman syndrome ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:267000
OMIM ClinVar CTD
PMID:6093533 PMID:10508986 PMID:16957732 PMID:22306653 PMID:23576526 PMID:23594738 PMID:23613427 PMID:24141620 PMID:25741868 PMID:28135719 PMID:28492532
NCBI chr 9:93,767,837...94,161,106
Ensembl chr 9:93,660,680...94,160,760
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