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: pre-eclampsia
Accession: DOID:10591
browse the term
Definition: A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. (DO)
Synonyms: exact_synonym: EPH Complex; EPH Gestosis; PEE; Preeclampsia; edema proteinuria hypertension gestosis; gestational hypertension; hypertension induced by pregnancy; preeclampsia/eclampsia; pregnancy associated hypertension; proteinuric hypertension of pregnancy
related_synonym: EPOXIDE HYDROLASE POLYMORPHISM; HELLP; HEMOLYSIS, ELEVATED LIVER ENZYMES, AND LOW PLATELET COUNT; Preeclampsia, susceptibility to
primary_id: MESH:D011225
xref: EFO:0000668 ; ICD10CM:O14 ; ICD10CM:O14.9 ; ICD10CM:O14.90 ; NCI:C34943 ; NCI:C85021 ; OMIM:PS189800 ; ORDO:275555
For additional species annotation, visit the
Alliance of Genome Resources .
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ACE
angiotensin I converting enzyme
onset
ISO
CTD Direct Evidence: marker/mechanism DNA:insertion/deletion:intron 16:
CTD RGD
PMID:17114810 PMID:20044877
RGD:40400703
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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ACVR2B
activin A receptor type 2B
ISO
protein:increased expression:placenta (human)
RGD
PMID:27176145
RGD:329853749
NCBI chr23:8,211,555...8,225,596
Ensembl chr23:8,192,483...8,218,894
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ADD1
adducin 1
ISO
mRNA:increased expression:blood
RGD
PMID:19731222
RGD:5147993
NCBI chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830
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AGT
angiotensinogen
ISO
ClinVar Annotator: match by term: Preeclampsia, susceptibility to
ClinVar
PMID:1394429 PMID:7649545 PMID:7883995 PMID:8348146 PMID:8513325 PMID:8518804 PMID:9259580 PMID:9421481 PMID:9831339 PMID:16059745 PMID:25741868 PMID:28492532 More...
NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
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AKR1C3
aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)
treatment
ISO
mRNA:decreased expression:blood:
RGD
PMID:19681734 PMID:25876805
RGD:10053633 RGD:11541124
NCBI chr 2:30,661,333...30,691,283
Ensembl chr 2:30,674,558...30,690,043
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ALB
albumin
severity
ISO
RGD
PMID:21923989
RGD:11035264
NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
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ALKBH5
alkB homolog 5, RNA demethylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34995009
NCBI chr 5:41,339,292...41,365,641
Ensembl chr 5:41,343,241...41,364,547
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ANXA5
annexin A5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19837457
NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378
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APELA
apelin receptor early endogenous ligand
ISO
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr15:60,967,944...60,990,955
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ARHGAP45
Rho GTPase activating protein 45
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26095815
NCBI chr20:57,656,693...57,668,324
Ensembl chr20:57,657,154...57,787,713
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ARID1A
AT-rich interaction domain 1A
disease_progression
ISO
associated with Fetal Growth Retardation; protein:increased expression:placenta, nucleus (human)
RGD
PMID:32529396
RGD:243065143
NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
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ASB4
ankyrin repeat and SOCS box containing 4
ISO
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr14:20,733,592...20,794,394
Ensembl chr14:20,733,436...20,792,082
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ATP2B1
ATPase plasma membrane Ca2+ transporting 1
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr15:30,547,009...30,674,094
Ensembl chr15:30,547,015...30,616,429
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ATP2B2
ATPase plasma membrane Ca2+ transporting 2
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474
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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:121,355,217...121,405,245
Ensembl chr X:121,361,239...121,403,609
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ATP2B4
ATPase plasma membrane Ca2+ transporting 4
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr38:321,246...420,262
Ensembl chr38:366,656...416,952
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C3
complement C3
treatment
ISO
RGD
PMID:23685261
RGD:7411624
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
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CALB1
calbindin 1
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr29:35,551,836...35,572,985
Ensembl chr29:35,552,436...35,572,925
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CCL5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:serum (rat)
RGD
PMID:19617880
RGD:2317272
NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
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CCN3
cellular communication network factor 3
ISO
protein:decreased expression:placenta (human)
RGD
PMID:16675545
RGD:1580971
NCBI chr13:18,507,586...18,515,755
Ensembl chr13:18,507,580...18,514,619
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CD274
CD274 molecule
treatment
ISO
RGD
PMID:27277012
RGD:40886269
NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
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CD40
CD40 molecule
ISO
protein:increased expression:blood, monocyte (human)
RGD
PMID:19221099
RGD:11520792
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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CD40LG
CD40 ligand
treatment
ISO
protein:increased expression:blood platelet (human)
RGD
PMID:23241952 PMID:26310940
RGD:11056772 RGD:11522719
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
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CDKN1C
cyclin dependent kinase inhibitor 1C
ISO
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr18:46,860,636...46,861,697
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CEBPA
CCAAT enhancer binding protein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34398343
NCBI chr 1:118,846,252...118,851,045
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CHI3L1
chitinase 3 like 1
ISO
protein:increased secretion:umbilical cord, serum (human)
RGD
PMID:18054022
RGD:4892664
NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427
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CLU
clusterin
ISO
DNA:SNP:exon:866C>T (human)
RGD
PMID:15925890
RGD:1581195
NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
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CMKLR1
chemerin chemokine-like receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34398343
NCBI chr26:18,487,700...18,539,678
Ensembl chr26:18,532,479...18,533,576
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COMT
catechol-O-methyltransferase
ISO
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008
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CORIN
corin, serine peptidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr13:43,501,287...43,737,522
Ensembl chr13:43,502,665...43,737,813
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CP
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18679377
NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369
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CREBBP
CREB binding protein
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:33625689
RGD:153350159
NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
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CUBN
cubilin
ISO
associated with late term delivery; mRNA:decreased expression:placenta (human)
RGD
PMID:32682061
RGD:401901078
NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839
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CYP11B1
cytochrome P450 family 11 subfamily B member 1
ISO
DNA:missense mutation:cds:p.V386A (human)
RGD
PMID:15569322
RGD:1576428
NCBI chr13:36,866,476...36,880,625
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CYP24A1
cytochrome P450 family 24 subfamily A member 1
ISO
associated with hypoxia; protein:increased expression:placenta (human) mRNA:increased expression:placenta (human)
RGD
PMID:22871339 PMID:36477942
RGD:401901075 RGD:401901174
NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216
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CYP27B1
cytochrome P450 family 27 subfamily B member 1
ISO
mRNA:increased expression:placenta (human) associated with hypoxia; protein:increased expression:placenta (human)
RGD
PMID:22871339 PMID:36477942
RGD:401901075 RGD:401901174
NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911
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CYP2J2
cytochrome P450 family 2 subfamily J member 2
ISO
mRNA:increased expression:placenta, decidua
RGD
PMID:23155181
RGD:7243127
NCBI chr 5:49,942,241...49,986,603
Ensembl chr 5:49,942,193...49,984,617
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CYP2R1
cytochrome P450 family 2 subfamily R member 1
ISO
associated with hypoxia; protein:decreased expression:placenta (human) mRNA:decreased expression:placenta (human)
RGD
PMID:22871339 PMID:32682061 PMID:36477942
RGD:401901075 RGD:401901078 RGD:401901174
NCBI chr21:37,553,883...37,579,744
Ensembl chr21:37,552,732...37,606,725
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DAB2IP
DAB2 interacting protein
ISO
mRNA, protein:decreased expression:placenta (human)
RGD
PMID:25604087
RGD:11553571
NCBI chr 9:60,725,887...60,918,242
Ensembl chr 9:60,726,809...60,918,139
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DDAH2
DDAH family member 2, ADMA-independent
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22285683
NCBI chr12:1,206,180...1,209,459
Ensembl chr12:1,206,309...1,208,389
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DLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*04 (human)
RGD
PMID:10960630
RGD:36174024
NCBI chr12:2,305,307...2,307,711
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DNAH8
dynein axonemal heavy chain 8
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr12:7,617,638...7,972,842
Ensembl chr12:7,617,592...7,972,842
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EBAG9
estrogen receptor binding site associated antigen 9
ISO
protein:increased expression:decidua
RGD
PMID:17845206
RGD:2289846
NCBI chr13:10,081,700...10,099,737
Ensembl chr13:10,081,695...10,099,501
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EBI3
Epstein-Barr virus induced 3
ameliorates
ISO
RGD
PMID:31203154
RGD:213230155
NCBI chr20:55,382,975...55,391,252
Ensembl chr20:55,383,247...55,390,336
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EDN1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25230003
NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
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EDN2
endothelin 2
ISO
RGD
PMID:9015697
RGD:1580919
NCBI chr15:1,647,966...1,654,272
Ensembl chr15:1,648,077...1,654,272
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EIF3D
eukaryotic translation initiation factor 3 subunit D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34520790
NCBI chr10:27,890,913...27,904,887
Ensembl chr10:27,890,938...27,904,886
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ENG
endoglin
treatment severity
ISO
protein:increased expression:serum (rat) protein:increased expression:serum (human) protein:increased expression:plasma (mouse)
RGD
PMID:20351341 PMID:22308016 PMID:22763474 PMID:23357179 PMID:23460287
RGD:7248767 RGD:7248768 RGD:7248777 RGD:7257524 RGD:7257530
NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
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ENTPD1
ectonucleoside triphosphate diphosphohydrolase 1
ISO
protein:decreased expression:abdominal fascia:
RGD
PMID:17469012
RGD:9685457
NCBI chr28:9,181,851...9,311,835
Ensembl chr28:9,211,050...9,323,939
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EPAS1
endothelial PAS domain protein 1
ISO
RGD
PMID:11159352
RGD:1580974
NCBI chr10:48,550,836...48,636,776
Ensembl chr10:48,551,410...48,634,844
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EPHX1
epoxide hydrolase 1
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism
CTD RGD
PMID:11283205 PMID:12173035
RGD:1601064
NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:9158311
RGD:1580990
NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
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ESR2
estrogen receptor 2
ISO
RGD
PMID:15894829
RGD:1581016
NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
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F2
coagulation factor II, thrombin
severity
ISO
DNA:polymorphism: :20210G>A(human)
RGD
PMID:16246971
RGD:6893628
NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
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F2R
coagulation factor II thrombin receptor
ISO
RGD
PMID:12161502
RGD:1581033
NCBI chr 3:29,870,159...29,889,837
Ensembl chr 3:29,872,155...29,889,687
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F3
coagulation factor III, tissue factor
ISO
associated with Fetal Death;protein:increased expression:plasma
RGD
PMID:19736615
RGD:11340220
NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607
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F5
coagulation factor V
severity
ISO
DNA:mutation: :1691G>A(human)
RGD
PMID:16246971
RGD:6893628
NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296
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FABP4
fatty acid binding protein 4
ISO
protein:increased expression:blood serum (human)
RGD
PMID:19573524
RGD:329845853
NCBI chr29:28,651,550...28,656,255
Ensembl chr29:28,652,146...28,656,228
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FAS
Fas cell surface death receptor
susceptibility
ISO
DNA:SNP:promoter:-670A>G(rs1800682)(human) DNA:SNP:promoter:-670A>G (human)
RGD
PMID:15695771 PMID:30066360
RGD:12903973 RGD:14700669
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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FASLG
Fas ligand
susceptibility
ISO
DNA:SNP:intron:124A>G(rs5030772)(human)
RGD
PMID:30066360
RGD:14700669
NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
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FLT1
fms related receptor tyrosine kinase 1
ISO
mRNA,protein:increased expression:placenta CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15472115 PMID:18679377 PMID:22262697 PMID:28628106
RGD:1582493 RGD:243048428
NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621
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GAMT
guanidinoacetate N-methyltransferase
ISO
mRNA:increased expression:placenta
RGD
PMID:31991880
RGD:329961300
NCBI chr20:57,440,698...57,442,588
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GATA2
GATA binding protein 2
onset
ISO
RGD
PMID:30659233
RGD:401850546
NCBI chr20:2,472,251...2,488,380
Ensembl chr20:2,473,912...2,480,991
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GATM
glycine amidinotransferase
ISO
mRNA:increased expression:placenta
RGD
PMID:31991880
RGD:329961300
NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214
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GC
GC vitamin D binding protein
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:32682061
RGD:401901078
NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929
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GPX1
glutathione peroxidase 1
ISO
protein:decreased expression:placenta mRNA:decreased expression:placenta
RGD
PMID:18852388 PMID:20303587 PMID:28705740
RGD:401827170 RGD:401827825 RGD:401827849
NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
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GPX3
glutathione peroxidase 3
ISO
protein:decreased expression:placenta mRNA:decreased expression:placenta
RGD
PMID:18852388 PMID:20303587 PMID:28705740
RGD:401827170 RGD:401827825 RGD:401827849
NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010
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GPX4
glutathione peroxidase 4
ISO
protein:decreased expression:placenta mRNA:decreased expression:placenta
RGD
PMID:18852388 PMID:20303587
RGD:401827170 RGD:401827849
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GSN
gelsolin
disease_progression
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:24239294
RGD:329337339
NCBI chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129
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GSTP1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:missense mutation:cds:p.I105V (human)
RGD
PMID:11826024
RGD:737707
NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:chorionic villus (human)
RGD
PMID:22840297
RGD:155631283
NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
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HMOX1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22197494
NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
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HNF1A
HNF1 homeobox A
susceptibility
ISO
associated with gestational diabetes;DNA:SNP:cd: p.I27L (rs1169288) (human)
RGD
PMID:31825269
RGD:329901812
NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790
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HSD11B1
hydroxysteroid 11-beta dehydrogenase 1
susceptibility
ISO
DNA:SNPs,haplotype: (rs2235543,rs846910) (human)
RGD
PMID:23659736
RGD:329901926
NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897
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ICAM1
intercellular adhesion molecule 1
treatment
ISO
RGD
PMID:21830843
RGD:8547718
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
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IDO1
indoleamine 2,3-dioxygenase 1
ISO
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr16:25,391,759...25,407,161
Ensembl chr16:25,391,754...25,407,048
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IL1RN
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum (human)
RGD
PMID:21126355
RGD:6906962
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
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IL6
interleukin 6
ameliorates
ISO
RGD
PMID:31203154
RGD:213230155
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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INHBA
inhibin subunit beta A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17332518
NCBI chr18:8,272,978...8,288,432
Ensembl chr18:8,272,872...8,283,794
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ISCU
iron-sulfur cluster assembly enzyme
ISO
mRNA:decreased expression:chorionic villus (human)
RGD
PMID:22840297
RGD:155631283
NCBI chr26:18,300,800...18,307,668
Ensembl chr26:18,300,803...18,307,652
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ITGA4
integrin subunit alpha 4
ISO
protein:increased expression:blood, granulocyte (rat)
RGD
PMID:10694336
RGD:9698441
NCBI chr36:24,670,464...24,686,719
Ensembl chr36:24,653,408...24,729,057
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ITGAM
integrin subunit alpha M
ISO
associated with Fetal Growth Retardation;mRNA:decreased expression:placenta (human) protein:increased expression:neutrophil (human) DNA:missense mutations:CDS:p.M441K (rs1143680), p.T1000N (rs41321249) (human)
RGD
PMID:18437152 PMID:32014817 PMID:33539617
RGD:329853770 RGD:329901659 RGD:329901825
NCBI chr 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286
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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 chr20:12,746,171...13,065,256
Ensembl chr20:12,747,315...13,064,198
G
ITPR2
inositol 1,4,5-trisphosphate receptor type 2
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr27:20,806,670...21,278,638
Ensembl chr27:20,805,842...21,350,083
G
ITPR3
inositol 1,4,5-trisphosphate receptor type 3
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr12:2,970,613...3,050,254
Ensembl chr12:2,805,187...3,048,938
G
KCNN4
potassium calcium-activated channel subfamily N member 4
ISO
protein:decreased expression:umbilical artery,umbilical vein (human)
RGD
PMID:23261940
RGD:329955574
NCBI chr 1:111,391,464...111,407,612
Ensembl chr 1:111,391,159...111,407,701
G
KISS1
KiSS-1 metastasis suppressor
ISO
mRNA:decreased expression:whole blood
RGD
PMID:16952198
RGD:2292128
NCBI chr38:768,333...774,328
Ensembl chr38:768,585...773,382
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LCN2
lipocalin 2
ISO
protein:increased expression:serum,urine
RGD
PMID:23957217
RGD:126781721
NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038
G
LEP
leptin
ISO
protein:decreased expression:plasma
RGD
PMID:16021089
RGD:5128718
NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
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LEPR
leptin receptor
ISO
protein:increased expression:placenta
RGD
PMID:16021089
RGD:5128718
NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
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LOC607874
cystatin-C-like
ISO
protein:increased expression:plasma (human)
RGD
PMID:18197549
RGD:2314350
NCBI chr23:49,562...53,618
G
LOC609365
CD46 molecule, complement regulatory protein-like
no_association susceptibility
ISO
DNA:missense mutation:cds:p.A304V (human)
RGD
PMID:21445332 PMID:25710174
RGD:11352807 RGD:6483459
NCBI chr 7:6,602,762...6,646,561
G
MIR126
microRNA mir-126
ISO
miRNA:decreased expression:blood serum (human)
RGD
PMID:25017274 PMID:30659233
RGD:155882496 RGD:401850546
NCBI chr 9:48,879,438...48,879,496
Ensembl chr 9:48,879,432...48,879,504
G
MIR144
microRNA mir-144
ISO
miRNA:decreased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr 9:43,031,035...43,031,094
Ensembl chr 9:43,031,035...43,031,094
G
MIR148A
microRNA mir-148a
ameliorates
ISO
RGD
PMID:31203154
RGD:213230155
NCBI chr14:39,301,847...39,301,906
Ensembl chr14:39,301,843...39,301,920
G
MIR152
microRNA mir-152
ISO
miRNA:increased expression:placenta miRNA:increased expression:blood serum (human)
RGD
PMID:25017274 PMID:31114978
RGD:155882496 RGD:21066344
NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225
G
MIR155
microRNA mir-155
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:28700503
RGD:155882490
NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
G
MIR15B
microRNA mir-15b
ISO
miRNA:decreased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr34:26,460,663...26,460,722
Ensembl chr34:26,460,645...26,460,741
G
MIR193A
microRNA mir-193a
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr 9:41,316,481...41,316,536
Ensembl chr 9:41,316,474...41,316,542
G
MIR204
microRNA mir-204
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr 1:86,818,494...86,818,553
Ensembl chr 1:86,818,489...86,818,556
G
MIR216A
microRNA mir-216a
ameliorates
ISO
RGD
PMID:31203154
RGD:213230155
NCBI chr10:56,761,430...56,761,534
Ensembl chr10:56,761,430...56,761,534
G
MIR25
microRNA mir-25
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr 6:9,498,993...9,499,051
Ensembl chr 6:9,498,993...9,499,051
G
MIR32
microRNA mir-32
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr11:64,197,130...64,197,191
Ensembl chr11:64,197,129...64,197,196
G
MIR335
microRNA mir-335
ISO
miRNA:decreased expression:blood serum (human)
RGD
PMID:25017274
RGD:155882496
NCBI chr14:6,444,861...6,444,918
Ensembl chr14:6,444,847...6,444,932
G
MIR423A
microRNA mir-423a
ISO
miRNA:increased expression:plasma
RGD
PMID:30587375
RGD:158014896
NCBI chr 9:44,155,913...44,155,971
G
MMP2
matrix metallopeptidase 2
ISO
mRNA, protein:decreased expression:placenta
RGD
PMID:17083831
RGD:2290399
NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
G
MMP9
matrix metallopeptidase 9
ISO
mRNA, protein:decreased expression:placenta
RGD
PMID:17083831 PMID:23776237
RGD:13204787 RGD:2290399
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
G
NOS3
nitric oxide synthase 3
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:29250138
RGD:13504712
NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
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NOTCH2
notch receptor 2
ISO
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857
G
NR1H3
nuclear receptor subfamily 1 group H member 3
exacerbates
ISO
mRNA, protein:increased expression:placenta (human) mRNA:altered expression:placenta, adipose tissue (human)
RGD
PMID:20655109 PMID:28352810
RGD:401842369 RGD:401850787
NCBI chr18:42,333,173...42,346,152
Ensembl chr18:42,333,202...42,341,236
G
NSD1
nuclear receptor binding SET domain protein 1
ISO
ClinVar Annotator: match by term: Preeclampsia
ClinVar
PMID:12464997 PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 PMID:21196496 PMID:24412544 PMID:25741868 PMID:26690673 PMID:27834868 PMID:28492532 PMID:30719864 More...
NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999
G
OGG1
8-oxoguanine DNA glycosylase
ISO
mRNA:increased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264
G
PDCD1
programmed cell death 1
treatment
ISO
protein:increased expression:Treg cell
RGD
PMID:27277012
RGD:40886269
NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
G
PDE5A
phosphodiesterase 5A
ISO
RGD
PMID:18538317
RGD:2314465
NCBI chr32:38,272,573...38,407,517
Ensembl chr32:38,244,338...38,407,522
G
PEG10
paternally expressed 10
onset
ISO
mRNA, protein:decreased expression:placenta (human) mRNA, protein:increased expression:placenta (human)
RGD
PMID:22137777 PMID:25526181 PMID:37464405
RGD:401851069 RGD:401851073 RGD:401851074
NCBI chr14:20,121,414...20,134,133
Ensembl chr14:20,121,414...20,134,133
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PGF
placental growth factor
ISO
RGD
PMID:20720407 PMID:21756887
RGD:6483577 RGD:6483779
NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170
G
PLAUR
plasminogen activator, urokinase receptor
ISO
protein:increased expression:plasma
RGD
PMID:21722073
RGD:6484119
NCBI chr 1:111,476,804...111,490,876
Ensembl chr 1:111,476,893...111,490,880
G
PML
PML nuclear body scaffold
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:20228380
RGD:41404689
NCBI chr30:37,232,337...37,278,434
Ensembl chr30:37,232,306...37,277,741
G
PPARG
peroxisome proliferator activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15562025 PMID:34995009
RGD:1580687
NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
G
PROC
protein C, inactivator of coagulation factors Va and VIIIa
ISO
RGD
PMID:9065198
RGD:11564336
NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563
G
PTGS1
prostaglandin-endoperoxide synthase 1
ISO
OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592
MouseDO
NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819
G
PTPN2
protein tyrosine phosphatase non-receptor type 2
disease_progression
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:27746364
RGD:155260325
NCBI chr 7:78,160,564...78,252,382
Ensembl chr 7:78,160,589...78,252,719
G
RARRES2
retinoic acid receptor responder 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34398343
NCBI chr16:14,671,345...14,675,000
Ensembl chr16:14,671,130...14,674,926
G
RBP4
retinol binding protein 4
disease_progression
ISO
protein:decreased expression:umbilical cord,blood serum (human) protein:increased expression:blood serum (human)
RGD
PMID:21173508 PMID:21299359
RGD:329845578 RGD:329845866
NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750
G
ROBO1
roundabout guidance receptor 1
ISO
mRNA,protein:increased expression:placenta
RGD
PMID:22262697
RGD:243048428
NCBI chr31:8,082,363...8,594,623
Ensembl chr31:7,626,126...8,593,728
G
ROBO4
roundabout guidance receptor 4
ISO
mRNA,protein:increased expression:placenta
RGD
PMID:22262697
RGD:243048428
NCBI chr 5:9,546,830...9,561,342
Ensembl chr 5:9,547,047...9,561,702
G
RYR1
ryanodine receptor 1
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
G
RYR2
ryanodine receptor 2
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875
G
RYR3
ryanodine receptor 3
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr30:1,179,575...1,533,352
Ensembl chr30:1,180,359...1,533,619
G
S100G
S100 calcium binding protein G
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr X:12,808,234...12,813,696
Ensembl chr X:12,808,718...12,812,972
G
SCNN1A
sodium channel epithelial 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16555725
NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980
G
SERPINA1
serpin family A member 1
ISO
RGD
PMID:1852102
RGD:1643155
NCBI chr 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435
G
SERPINE1
serpin family E member 1
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:blood:
CTD RGD
PMID:16952198 PMID:18679377
RGD:2292128
NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
G
SERPINF2
serpin family F member 2
ISO
protein:increased expression:urine
RGD
PMID:1334334
RGD:1625535
NCBI chr 9:45,876,076...45,883,777
Ensembl chr 9:45,877,495...45,883,036
G
SLC2A1
solute carrier family 2 member 1
ISO
mRNA:decreased expression:chorionic villus (human)
RGD
PMID:22840297
RGD:155631283
NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140
G
STOX1
storkhead box 1
no_association
ISO
DNA:missense mutation:cds:p.Y153H (human) human fetally expressed gene in a mouse model
RGD
PMID:15806103 PMID:17617193 PMID:23357179
RGD:11553888 RGD:11553890 RGD:7248768
NCBI chr 4:20,013,893...20,065,480
Ensembl chr 4:20,014,007...20,060,394
G
TFPI
tissue factor pathway inhibitor
ISO
protein:increased expression:plasma:
RGD
PMID:10078579
RGD:11060132
NCBI chr36:29,457,131...29,546,455
Ensembl chr36:29,459,371...29,511,310
G
TIMP1
TIMP metallopeptidase inhibitor 1
ISO
mRNA, protein:increased expression:placenta
RGD
PMID:17083831
RGD:2290399
NCBI chr X:41,201,623...41,205,314
Ensembl chr X:41,201,638...41,205,310
G
TLR3
toll like receptor 3
ISO
protein:increased expression:placenta (rat)
RGD
PMID:19779466
RGD:5128769
NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247
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TLR4
toll like receptor 4
ISO
RGD
PMID:16157088
RGD:1580682
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
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TNF
tumor necrosis factor
ameliorates
ISO
RGD
PMID:15901845 PMID:31203154
RGD:1580314 RGD:213230155
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
human protein in rat model
RGD
PMID:21505354
RGD:5131211
NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
G
TRPV5
transient receptor potential cation channel subfamily V member 5
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr16:6,647,070...6,678,080
Ensembl chr16:6,650,574...6,676,963
G
TRPV6
transient receptor potential cation channel subfamily V member 6
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:36477942
RGD:401901174
NCBI chr16:6,691,521...6,706,205
Ensembl chr16:6,691,254...6,706,207
G
UTS2
urotensin 2
ISO
RGD
PMID:15866083
RGD:1580806
NCBI chr 5:61,503,268...61,508,146
G
VDR
vitamin D receptor
ISO
associated with Premature Birth; mRNA:increased expression:placenta (human) protein:decreased expression:placenta (human) mRNA:decreased expression:placenta (human)
RGD
PMID:22871339 PMID:32682061 PMID:36477942
RGD:401901075 RGD:401901078 RGD:401901174
NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
G
VEGFA
vascular endothelial growth factor A
ISO
mRNA:decreased expression:chorionic villus (human)
RGD
PMID:16517614 PMID:22840297
RGD:155631283 RGD:1580566
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
G
IL6
interleukin 6
treatment
ISO
RGD
PMID:27106269
RGD:11062145
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
G
ADAMTS13
ADAM metallopeptidase with thrombospondin type 1 motif 13
ISO
protein:decreased activity:plasma (human)
RGD
PMID:12969811
RGD:10449045
NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295
G
AHSP
alpha hemoglobin stabilizing protein
ISO
mRNA:decreased expression:placenta (human)
RGD
PMID:18347943
RGD:329956422
NCBI chr 6:16,744,879...16,745,826
Ensembl chr 6:16,744,879...16,745,745
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CD40LG
CD40 ligand
ISO
protein:increased expression:blood platelet (human)
RGD
PMID:23241952
RGD:11522719
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
G
ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:9158311
RGD:1580990
NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
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FAS
Fas cell surface death receptor
susceptibility
ISO
DNA:SNP:promoter:-670A>G(rs1800682)(human) protein,mRNA:altered expression:placenta, liver:
RGD
PMID:28501275 PMID:30066360
RGD:14700669 RGD:14700673
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
G
FASLG
Fas ligand
susceptibility
ISO
DNA:SNP:intron:124A>G(rs5030772)(human) protein:altered expression:blood, placenta, liver:
RGD
PMID:28501275 PMID:30066360
RGD:14700669 RGD:14700673
NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
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GPX3
glutathione peroxidase 3
ISO
protein:increased expression:plasma
RGD
PMID:8476834
RGD:401827852
NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010
G
STOX1
storkhead box 1
ISO
ClinVar Annotator: match by term: Preeclampsia/eclampsia 4
OMIM ClinVar
PMID:15806103 PMID:17325670 PMID:33116287
NCBI chr 4:20,013,893...20,065,480
Ensembl chr 4:20,014,007...20,060,394
G
CORIN
corin, serine peptidase
ISO
ClinVar Annotator: match by term: Preeclampsia/eclampsia 5
OMIM ClinVar
PMID:22437503 PMID:24828501 PMID:25741868 PMID:28492532
NCBI chr13:43,501,287...43,737,522
Ensembl chr13:43,502,665...43,737,813
G
PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
RGD
PMID:22534418
RGD:6771230
NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
G
REN
renin
ISO
protein:increased activity:blood plasma (human)
RGD
PMID:683663
RGD:125097480
NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012
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ACVR1
activin A receptor type 1
severity
ISO
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr36:3,743,257...3,818,659
Ensembl chr36:3,744,163...3,818,652
G
APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
susceptibility
ISO
DNA:polymorphism::p.D148E (human)
RGD
PMID:24619222
RGD:401850778
NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422
G
COL4A2
collagen type IV alpha 2 chain
severity
ISO
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr22:58,656,579...58,820,560
Ensembl chr22:58,697,175...58,773,297
G
ERAP1
endoplasmic reticulum aminopeptidase 1
severity
ISO
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634
G
ERAP2
endoplasmic reticulum aminopeptidase 2
severity
ISO
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr 3:12,780,084...12,819,795
Ensembl chr 3:12,781,849...12,817,025
G
GPX3
glutathione peroxidase 3
ISO
protein:increased expression:plasma
RGD
PMID:8476834
RGD:401827852
NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010
G
LNPEP
leucyl and cystinyl aminopeptidase
severity
ISO
mRNA:increased expression:decidua basalis (human)
RGD
PMID:24331737
RGD:329845529
NCBI chr 3:12,668,994...12,766,712
Ensembl chr 3:12,681,577...12,767,183
G
MIR155
microRNA mir-155
severity
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:31487655
RGD:155582220
NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
G
RBP4
retinol binding protein 4
severity
ISO
protein:increased expression:blood serum (human) protein:decreased expression:blood serum (human)
RGD
PMID:19573524 PMID:27279411 PMID:31949674
RGD:329845847 RGD:329845853 RGD:329845859
NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750
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