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: EFO:0004593 ; 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 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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 chr17:34,927,221...35,479,827
Ensembl chr17:34,950,157...35,479,905
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20421132
NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:63,449,148...63,476,917
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:10525657 PMID:10754480 PMID:11508276 PMID:12442280 PMID:14517946 PMID:14517956 PMID:15102714 PMID:15305805 PMID:15928245 PMID:16173921 PMID:16731834 PMID:17186219 PMID:17389332 PMID:17937063 PMID:18056790 PMID:18414213 PMID:19790256 PMID:20337973 PMID:21395678 PMID:21831042 PMID:21921030 PMID:21978167 PMID:22028181 PMID:22065275 PMID:22493702 PMID:22820548 PMID:23771172 PMID:24033266 PMID:24568320 PMID:24578721 PMID:24735133 PMID:25082184 PMID:25306193 PMID:25494859 PMID:25555642 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29056535 PMID:29510678 PMID:29777474 PMID:30191644 PMID:31216263 PMID:31595705 PMID:31968686 PMID:32074423 PMID:32086287 PMID:34406393 PMID:34496959 PMID:35737141 PMID:36208343 PMID:36257325 PMID:36504295 PMID:16752173 PMID:8495817 More...
RGD:2301873 , RGD:1601293
NCBI chr14:84,999,019...85,041,098
Ensembl chr14:84,999,020...85,040,949
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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
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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
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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
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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) 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
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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 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617
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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
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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
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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
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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 chr17:53,787,159...53,810,942
Ensembl chr17:53,791,444...53,804,508
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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
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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 chr12:5,991,135...6,129,275
Ensembl chr12:5,981,835...6,128,803
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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
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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
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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
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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
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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
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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
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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
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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
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Mir133a1
microRNA 133a-1
IEP
RGD
PMID:26512955
RGD:11564338
NCBI chr18:2,157,872...2,157,958
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Mir29a
microRNA 29a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31284700
NCBI chr 4:60,617,955...60,618,042
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Srrm1
serine and arginine repetitive matrix 1
ISO
protein:increased glycation:placenta (human)
RGD
PMID:24308201
RGD:11038724
NCBI chr 5:152,843,167...152,875,554
Ensembl chr 5:152,843,169...152,875,436
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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
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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
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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
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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
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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
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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
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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
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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
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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
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 PMID:18546366 PMID:21354044 PMID:21844811 PMID:23460398 PMID:23656349 PMID:23668869 PMID:23913538 PMID:24033266 PMID:24932921 PMID:25541118 PMID:25741868 PMID:26467025 PMID:27069254 PMID:28492532 PMID:28873162 PMID:29872168 PMID:30308447 PMID:31370276 PMID:31533797 PMID:31690835 PMID:31766501 PMID:34418705 PMID:34427956 PMID:35698239 PMID:36988593 More...
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946
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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
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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
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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 PMID:30665703 PMID:30763456 More...
NCBI chr10:65,668,441...65,687,671
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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
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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
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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 3:172,606,220...172,667,758
Ensembl chr 3:172,606,220...172,667,758
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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
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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
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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 8:80,390,470...80,516,463
Ensembl chr 8:80,390,471...80,516,285
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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
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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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:17576681 PMID:22306653 PMID:23486540 PMID:23576526 PMID:23594738 PMID:23613427 PMID:23756462 PMID:24141620 PMID:25640679 PMID:25670083 PMID:25741868 PMID:25741875 PMID:26689913 PMID:27153395 PMID:27431325 PMID:28328139 PMID:28492532 PMID:29625052 PMID:30344923 PMID:30359267 PMID:31350202 PMID:31942411 PMID:33332384 PMID:33719213 PMID:34130653 PMID:35495172 PMID:35957908 PMID:35980532 PMID:36451132 More...
NCBI chr 9:94,802,056...95,184,523
Ensembl chr 9:94,804,382...95,184,522
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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