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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:gestational diabetes
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Accession:DOID:11714 term browser 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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gestational diabetes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO protein:increased expression:serum RGD PMID:12153747 RGD:2313814 NCBI chr11:81,711,269...81,717,594 JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Mir133a1 microRNA 133a-1 IEP RGD PMID:26512955 RGD:11564338 NCBI chr18:2,052,478...2,052,564 JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 JBrowse link
Fetal Macrosomia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Perlman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      endocrine system disease 5011
        diabetes mellitus 1376
          gestational diabetes 45
            Fetal Macrosomia + 7
Path 2
Term Annotations click to browse term
  disease 16122
    Nutritional and Metabolic Diseases 4714
      disease of metabolism 4714
        acquired metabolic disease 2762
          carbohydrate metabolism disease 1767
            glucose metabolism disease 0
              diabetes mellitus 1376
                gestational diabetes 45
                  Fetal Macrosomia + 7
paths to the root