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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: EFO:0004593;   ICD10CM:O24.4;   NCI:C34942
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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
RGD		 PMID:15126557 PMID:19626510 PMID:23608331 RGD:2313236, RGD:8695950 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169 		JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO protein:increased expression:serum RGD PMID:12153747 RGD:2313814 NCBI chr11:91,625,975...91,632,583
Ensembl chr11:91,625,975...91,634,039 		JBrowse link
G Angptl6 angiopoietin-like 6 ISO protein:increased expression:blood serum,umbilical artery (human) RGD PMID:35876300 RGD:329845845 NCBI chr 8:27,689,804...27,696,172
Ensembl chr 8:27,689,806...27,696,111 		JBrowse link
G Apod apolipoprotein D ISO RGD PMID:6828336 RGD:2311180 NCBI chr11:82,936,216...82,957,264
Ensembl chr11:82,936,038...82,957,263 		JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:67,135,317...67,304,467 		JBrowse link
G Atp2b1 ATPase plasma membrane Ca2+ transporting 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 7:35,622,267...35,731,904
Ensembl chr 7:35,622,461...35,731,904 		JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 4:148,450,207...148,763,653
Ensembl chr 4:148,450,207...148,696,239 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:156,367,852...156,438,153 		JBrowse link
G Atp2b4 ATPase plasma membrane Ca2+ transporting 4 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr13:47,708,157...47,807,389
Ensembl chr13:47,711,121...47,758,876 		JBrowse link
G Bnip3l BCL2 interacting protein 3 like IEP RGD PMID:26512955 RGD:11564338 NCBI chr15:45,350,081...45,373,213
Ensembl chr15:45,334,537...45,373,282 		JBrowse link
G C12h12orf43 similar to human chromosome 12 open reading frame 43 ISO ClinVar Annotator: match by term: Gestational diabetes ClinVar PMID:9562352 PMID:25741868 PMID:35299962 NCBI chr12:47,332,740...47,338,461
Ensembl chr12:47,332,027...47,338,359 		JBrowse link
G Calb1 calbindin 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 5:34,172,612...34,199,555
Ensembl chr 5:34,172,664...34,200,160 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:18702087 RGD:2306986 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34175429 NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:22,621,501...22,624,976 		JBrowse link
G Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 ISO DNA:snp: :rs7756992,rs7754840(human) RGD PMID:19002430 RGD:2313946 NCBI chr17:34,927,221...35,479,827
Ensembl chr17:34,950,157...35,479,905 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:63,449,148...63,476,917 		JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO mRNA:increased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:179,694,647...179,709,083 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO mRNA:increased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570 		JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 1:178,166,984...178,232,191
Ensembl chr 1:178,219,704...178,232,423 		JBrowse link
G Dcn decorin ISO RGD PMID:16630654 RGD:2311413 NCBI chr 7:34,167,973...34,208,004
Ensembl chr 7:34,163,011...34,218,926 		JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr20:8,694,371...8,948,849
Ensembl chr20:8,694,398...8,948,849 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493 		JBrowse link
G Foxm1 forkhead box M1 ISO RGD PMID:19833884 RGD:2315927 NCBI chr 4:163,325,628...163,338,100
Ensembl chr 4:163,325,614...163,337,172 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO protein:increased activity:liver RGD PMID:12595588 RGD:2315965 NCBI chr10:86,807,659...86,819,023
Ensembl chr10:86,757,899...86,818,033 		JBrowse link
G Gad2 glutamate decarboxylase 2 ISO RGD PMID:18588707 RGD:2313295 NCBI chr17:89,671,718...89,734,246
Ensembl chr17:89,671,716...89,941,089 		JBrowse link
G Gck glucokinase ISO DNA:SNP:promoter:A allele of -30G>A associated with GDM (p=0.008) (human)
DNA:point mutation:exon:S131P
ClinVar Annotator: match by term: Gestational diabetes 		ClinVar
RGD		 PMID:3573714 PMID:8068341 PMID:8132752 PMID:8433729 PMID:8446612 More... RGD:2301873, RGD:1601293 NCBI chr14:84,999,019...85,041,098
Ensembl chr14:84,999,020...85,040,949 		JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO protein:increased activity:blood RGD PMID:18937705 RGD:2315598 NCBI chr20:13,074,141...13,103,551
Ensembl chr20:13,074,141...13,088,050 		JBrowse link
G Gh1 growth hormone 1 ISO protein:increased expression: RGD PMID:3519044 RGD:2315681 NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,727,884...91,729,859 		JBrowse link
G Gpx1 glutathione peroxidase 1 IDA RGD PMID:22342560 RGD:11353780 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581 		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)
ClinVar Annotator: match by term: Gestational diabetes 		ClinVar
RGD		 PMID:9562352 PMID:25741868 PMID:35299962 PMID:16752173 RGD:2301873 NCBI chr12:47,299,171...47,333,457
Ensembl chr12:47,306,245...47,332,755 		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 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP RGD PMID:22241286 RGD:10046048 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664 		JBrowse link
G Il10 interleukin 10 ISO protein:decreased expression:serum RGD PMID:18446686 RGD:2308947 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:extracellular space (human) RGD PMID:19408175 RGD:2307186 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		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 chr17:53,787,159...53,810,942
Ensembl chr17:53,791,444...53,804,508 		JBrowse link
G Ins2 insulin 2 ISO protein:increased expression:serum RGD PMID:19269197 RGD:2311131 NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:207,272,742...207,273,805 		JBrowse link
G Insr insulin receptor ISO
IEP 		mRNA, protein:increased expression:placenta (human) RGD PMID:19179458 PMID:22241286 RGD:2307336, RGD:10046048 NCBI chr12:5,991,135...6,129,275
Ensembl chr12:5,981,835...6,128,803 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:142,743,334...143,066,504 		JBrowse link
G Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 4:180,759,325...181,165,361
Ensembl chr 4:180,760,442...181,164,763 		JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr20:5,138,553...5,204,189
Ensembl chr20:5,118,834...5,204,184 		JBrowse link
G Lep leptin ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:20421132 PMID:19269197 RGD:2311131 NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:58,626,523...58,640,661 		JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15472209 NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546 		JBrowse link
G Men1 menin 1 ISO RGD PMID:17975067 RGD:2317319 NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:213,068,166...213,074,120 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISS MouseDO NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Mir133a1 microRNA 133a-1 IEP RGD PMID:26512955 RGD:11564338 NCBI chr18:2,157,872...2,157,958 JBrowse link
G Mir29a microRNA 29a ISO CTD Direct Evidence: marker/mechanism CTD PMID:31284700 NCBI chr 4:60,617,955...60,618,042 JBrowse link
G Mir330 microRNA 330 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31284700 NCBI chr 1:87,961,207...87,961,303
Ensembl chr 1:87,961,207...87,961,303 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO mRNA:increased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:148,030,349...148,037,604 		JBrowse link
G Plat plasminogen activator, tissue type ISO RGD PMID:17259140 RGD:2311668 NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696 		JBrowse link
G Rbp4 retinol binding protein 4 ISO protein:increased expression:blood serum (human) RGD PMID:35876300 RGD:329845845 NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:245,306,349...245,313,898 		JBrowse link
G Retn resistin ISO protein:increased expression:serum RGD PMID:19408175 RGD:2307186 NCBI chr12:6,508,653...6,511,115
Ensembl chr12:6,508,801...6,511,116 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 3:119,886,129...120,433,465
Ensembl chr 3:119,885,878...120,433,677 		JBrowse link
G S100g S100 calcium binding protein G ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr  X:35,337,636...35,340,205
Ensembl chr  X:35,337,675...35,340,205 		JBrowse link
G Sirt3 sirtuin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23956348 NCBI chr 1:205,371,703...205,394,145
Ensembl chr 1:205,371,710...205,394,076 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23956348 PMID:30738174 PMID:34175429 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Srrm1 serine and arginine repetitive matrix 1 ISO protein:increased glycation:placenta (human) RGD PMID:24308201 RGD:11038724 NCBI chr 5:152,843,167...152,875,554
Ensembl chr 5:152,843,169...152,875,436 		JBrowse link
G Tcf7l2 transcription factor 7 like 2 susceptibility ISO DNA:SNP (human) RGD PMID:18984664 RGD:2312455 NCBI chr 1:264,791,335...264,984,225
Ensembl chr 1:264,791,335...264,984,225 		JBrowse link
G Trpv5 transient receptor potential cation channel, subfamily V, member 5 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 4:71,503,085...71,531,134
Ensembl chr 4:71,503,093...71,529,384 		JBrowse link
G Trpv6 transient receptor potential cation channel, subfamily V, member 6 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 4:71,474,006...71,489,667
Ensembl chr 4:71,474,007...71,489,671 		JBrowse link
G Uts2 urotensin 2 susceptibility ISO DNA:polymorphism RGD PMID:17327028 RGD:2306802 NCBI chr 5:166,725,471...166,739,063
Ensembl chr 5:166,733,671...166,739,059 		JBrowse link
G Vdr vitamin D receptor ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coprs coordinator of PRMT5 and differentiation stimulator ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb ClinVar PMID:21844811 PMID:31690835 NCBI chr16:75,721,264...75,726,375
Ensembl chr16:82,407,580...82,431,737 		JBrowse link
G Evi2a ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb ClinVar PMID:21844811 PMID:31690835 NCBI chr10:64,983,727...64,987,627
Ensembl chr10:64,983,705...64,999,516 		JBrowse link
G Evi2b ecotropic viral integration site 2B ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb ClinVar PMID:21844811 PMID:31690835 NCBI chr10:64,970,659...64,972,277
Ensembl chr10:64,964,719...64,979,417 		JBrowse link
G Mir193a microRNA 193a ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb ClinVar PMID:21844811 PMID:31690835 NCBI chr10:65,170,306...65,170,417 JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: VAN ASPEREN SYNDROME ClinVar PMID:7655472 PMID:10678181 PMID:10712197 PMID:16199547 PMID:17311297 More... NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946 		JBrowse link
G Omg oligodendrocyte-myelin glycoprotein ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb ClinVar PMID:21844811 PMID:31690835 NCBI chr10:64,959,316...64,962,050
Ensembl chr10:64,936,145...64,962,050 		JBrowse link
G Rab11fip4 RAB11 family interacting protein 4 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb ClinVar PMID:21844811 PMID:31690835 NCBI chr10:65,048,070...65,156,086
Ensembl chr10:65,048,140...65,152,722 		JBrowse link
G Rnf135 ring finger protein 135 ISO 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 		CTD
ClinVar		 PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr10:65,668,441...65,687,671 JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb ClinVar PMID:21844811 PMID:31690835 NCBI chr10:65,464,948...65,510,846
Ensembl chr10:65,464,969...65,510,846 		JBrowse link
G Utp6 UTP6 small subunit processome component ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb ClinVar PMID:21844811 PMID:31690835 NCBI chr10:65,395,253...65,425,928
Ensembl chr10:65,395,253...65,425,928 		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 3:172,606,220...172,667,758
Ensembl chr 3:172,606,220...172,667,758 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:86,270,208...86,277,944 		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 8:80,390,470...80,516,463
Ensembl chr 8:80,390,471...80,516,285 		JBrowse link
Perlman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpg alkaline phosphatase, germ cell ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,187,995...95,205,127
Ensembl chr 9:95,198,334...95,205,742 		JBrowse link
G Alpi alkaline phosphatase, intestinal ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,221,314...95,224,780
Ensembl chr 9:95,221,314...95,224,780 		JBrowse link
G Alpp alkaline phosphatase, placental ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,213,763...95,216,509
Ensembl chr 9:95,213,374...95,219,451 		JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,250,492...94,376,589
Ensembl chr 9:94,250,859...94,376,589 		JBrowse link
G Atg16l1 autophagy related 16-like 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,869,839...95,905,354
Ensembl chr 9:95,869,865...95,905,357 		JBrowse link
G B3gnt7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,404,197...94,408,148
Ensembl chr 9:94,404,135...94,408,147 		JBrowse link
G C9h2orf72 similar to human chromosome 2 open reading frame 72 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,139,808...94,147,919
Ensembl chr 9:94,139,849...94,147,918 		JBrowse link
G Cab39 calcium binding protein 39 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:93,911,099...93,972,542
Ensembl chr 9:93,911,054...93,972,542 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,310,316...95,318,734
Ensembl chr 9:95,310,298...95,318,745 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:95,325,984...95,332,092 		JBrowse link
G Cops7b COP9 signalosome subunit 7B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,686,314...94,711,903
Ensembl chr 9:94,686,314...94,711,903 		JBrowse link
G Ctr9 CTR9 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Predisposition to Wilms tumor ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 1:174,571,952...174,601,974
Ensembl chr 1:174,571,928...174,602,130 		JBrowse link
G Dgkd diacylglycerol kinase, delta ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,964,507...96,055,160
Ensembl chr 9:95,964,148...96,055,160 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:25741868 NCBI chr15:82,231,922...82,258,299
Ensembl chr15:82,231,283...82,258,333 		JBrowse link
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 ISO
ISS 		ClinVar Annotator: match by term: DIS3L2-related condition | ClinVar Annotator: match by term: Perlman syndrome
OMIM:267000
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 More... NCBI chr 9:94,802,056...95,184,523
Ensembl chr 9:94,804,382...95,184,522 		JBrowse link
G Dnajb3 DnaJ heat shock protein family (Hsp40) member B3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,243,345...96,244,358
Ensembl chr 9:96,243,071...96,244,408 		JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,267,417...95,276,508
Ensembl chr 9:95,264,618...95,274,575 		JBrowse link
G Efhd1 EF-hand domain family, member D1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,386,155...95,432,800
Ensembl chr 9:95,386,169...95,432,798 		JBrowse link
G Eif4e2 eukaryotic translation initiation factor 4E family member 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,333,439...95,362,366
Ensembl chr 9:95,333,989...95,362,362 		JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,449,143...95,574,927
Ensembl chr 9:95,449,167...95,574,927 		JBrowse link
G Gpr55 G protein-coupled receptor 55 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,037,748...94,081,426
Ensembl chr 9:94,036,162...94,088,707 		JBrowse link
G Hjurp Holliday junction recognition protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,301,183...96,315,587
Ensembl chr 9:96,302,530...96,315,657 		JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,184,442...94,206,851
Ensembl chr 9:94,190,109...94,204,087 		JBrowse link
G Itm2c integral membrane protein 2C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:93,993,922...94,007,737
Ensembl chr 9:93,993,895...94,007,704 		JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,509,228...95,528,400
Ensembl chr 9:95,510,877...95,520,817 		JBrowse link
G Mroh2a maestro heat-like repeat family member 2A ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,262,307...96,309,036
Ensembl chr 9:96,262,271...96,301,635 		JBrowse link
G Ncl nucleolin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,447,559...94,456,083
Ensembl chr 9:94,446,682...94,456,083 		JBrowse link
G Neu2 neuraminidase 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,666,338...95,715,209
Ensembl chr 9:95,696,507...95,715,208 		JBrowse link
G Ngef neuronal guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,594,823...95,692,381
Ensembl chr 9:95,594,823...95,692,251 		JBrowse link
G Nmur1 neuromedin U receptor 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,480,002...94,486,147
Ensembl chr 9:94,481,248...94,485,428 		JBrowse link
G Nppc natriuretic peptide C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,767,986...94,772,186
Ensembl chr 9:94,767,986...94,772,186 		JBrowse link
G Nynrin NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Predisposition to Wilms tumor ClinVar PMID:28492532 NCBI chr15:33,302,778...33,325,120
Ensembl chr15:33,295,954...33,324,383 		JBrowse link
G Pde6d phosphodiesterase 6D ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,640,932...94,685,918
Ensembl chr 9:94,640,932...94,685,918 		JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,289,984...95,307,877
Ensembl chr 9:95,302,772...95,307,877 		JBrowse link
G Psmd1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,157,971...94,233,218
Ensembl chr 9:94,157,971...94,233,218 		JBrowse link
G Ptma prothymosin alpha ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,624,194...94,628,276
Ensembl chr 9:94,624,196...94,628,276 		JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,915,640...95,956,641
Ensembl chr 9:95,917,197...95,956,507 		JBrowse link
G Snorc secondary ossification center associated regulator of chondrocyte maturation ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:95,574,943...95,593,394
Ensembl chr 9:95,591,796...95,593,394 		JBrowse link
G Snord20 small nucleolar RNA, C/D box 20 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,449,039...94,449,118
Ensembl chr 9:94,449,039...94,449,118 		JBrowse link
G Snord82 small nucleolar RNA, C/D box 82 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,452,486...94,452,557
Ensembl chr 9:94,452,486...94,452,557 		JBrowse link
G Sp100 SP100 nuclear antigen ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:93,758,975...93,825,068
Ensembl chr 9:93,759,075...93,825,068 		JBrowse link
G Sp110 SP110 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:93,648,574...93,673,476
Ensembl chr 9:93,648,575...93,670,659 		JBrowse link
G Sp140 SP140 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:93,672,536...93,722,596
Ensembl chr 9:93,667,989...93,722,593 		JBrowse link
G Spata3 spermatogenesis associated 3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,107,832...94,120,280
Ensembl chr 9:94,107,807...94,119,172 		JBrowse link
G Spp2 secreted phosphoprotein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,454,636...96,474,453
Ensembl chr 9:96,454,957...96,474,452 		JBrowse link
G Tex44 testis expressed 44 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:94,523,649...94,525,067
Ensembl chr 9:94,523,640...94,526,154 		JBrowse link
G Trpm8 transient receptor potential cation channel, subfamily M, member 8 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,315,567...96,437,959
Ensembl chr 9:96,351,681...96,436,617 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,239,019...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,228,134...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,210,053...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,195,018...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,144,786...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Usp40 ubiquitin specific peptidase 40 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:96,055,741...96,126,766
Ensembl chr 9:96,055,741...96,126,721 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      endocrine system disease 7008
        diabetes mellitus 1683
          gestational diabetes 132
            Fetal Macrosomia + 68
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            carbohydrate metabolic disorder 3440
              glucose metabolism disease 2176
                diabetes mellitus 1683
                  gestational diabetes 132
                    Fetal Macrosomia + 68
paths to the root