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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:Pregnancy Complications
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Accession:DOID:9004702 term browser browse the term
Definition:Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases.
Synonyms:exact_synonym: Pregnancy Complication
 primary_id: MESH:D011248;   RDO:0001134
For additional species annotation, visit the Alliance of Genome Resources.


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Pregnancy Complications term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPO erythropoietin ISO associated with Pregnancy in Diabetes;protein:increased expression:amniotic fluid RGD PMID:15502930 RGD:2313897 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
JBrowse link
G FAAH fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16886060 NCBI chr15:14,023,111...14,040,156
Ensembl chr15:14,023,299...14,040,212
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11932298 NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991
JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19636672 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
JBrowse link
G KLRK1 killer cell lectin like receptor K1 treatment ISO associated with Animal Toxoplasmosis RGD PMID:28438315 RGD:39128164 NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882
JBrowse link
G NCOA2 nuclear receptor coactivator 2 ISO mRNA:decreased expression:uterus (rat) RGD PMID:20660062 RGD:5688349 NCBI chr29:19,253,849...19,471,640
Ensembl chr29:19,222,842...19,545,371
JBrowse link
G NFKBIA NFKB inhibitor alpha susceptibility ISO associated with Cytomegalovirus Infections;DNA:SNP:promoter: -94ins/delATTG (human) RGD PMID:25792174 RGD:11342310 NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433
JBrowse link
G SERPINE1 serpin family E member 1 ISO DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:10909993 RGD:13208506 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
Bowen-Conradi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMG1 EMG1 N1-specific pseudouridine methyltransferase ISO OMIM NCBI chr27:38,069,089...38,075,577
Ensembl chr27:38,068,231...38,076,300
JBrowse link
Cardiovascular Pregnancy Complications term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAS Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716473 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716473 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G PRL prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18926768 NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716473 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
chorioamnionitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO RGD PMID:22578261 RGD:6767308 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
JBrowse link
G B9D2 B9 domain containing 2 severity ISO protein:increased expression:amniotic fluid RGD PMID:19332995 RGD:4145137 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:villous trophoblast RGD PMID:12700199 RGD:12904022 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21493953 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL6 interleukin 6 ISO associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:
protein:increased expression:plasma
protein:increased expression: cervicovaginal fluid :
RGD PMID:15547537 PMID:25011638 PMID:25687566 RGD:12791291 RGD:12792243 RGD:5128667 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G LOC479260 mannose-binding protein A susceptibility ISO DNA:polymorphism:exon:p.G54D(human) RGD PMID:15723707 RGD:12910932 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G LTA lymphotoxin alpha severity ISO associated with Premature Birth;DNA:SNP:promoter:250G>A (human) RGD PMID:15128916 RGD:12904055 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:12712078 RGD:13204828 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G TNF tumor necrosis factor severity
no_association
ISO associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human)
associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human)
RGD PMID:15128916 RGD:12904055 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ISO associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid: RGD PMID:19591072 RGD:127229904 NCBI chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236
JBrowse link
choriocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF8 fibroblast growth factor 8 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468
JBrowse link
G IGF2 insulin like growth factor 2 disease_progression ISO protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G INSR insulin receptor disease_progression ISO protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VAN ASPEREN SYNDROME
ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD
ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr 9:40,794,772...40,809,022
Ensembl chr 9:40,795,297...40,808,737
JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema ClinVar PMID:25741868 NCBI chr 1:111,391,464...111,407,612
Ensembl chr 1:111,391,159...111,407,701
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO OMIM NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375
JBrowse link
Diabetic Embryopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FADD Fas associated via death domain ISO RGD PMID:26419589 RGD:13792560 NCBI chr18:48,087,447...48,094,497 JBrowse link
eclampsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
Embryo Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL12 C-X-C motif chemokine ligand 12 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:18384776 RGD:2306554 NCBI chr28:2,895,916...2,903,543 JBrowse link
G GPX4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12566075
G GRK2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17008600 NCBI chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428
JBrowse link
G IGF2 insulin like growth factor 2 ISO DNA:methylation: : RGD PMID:18778817 RGD:5509951 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:21920610 RGD:8655947 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G LCMT1 leucine carboxyl methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17724024 NCBI chr 6:21,026,125...21,066,884
Ensembl chr 6:21,026,186...21,066,876
JBrowse link
G LIF LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:23409146 NCBI chr26:23,400,226...23,418,538
Ensembl chr26:23,403,364...23,406,851
JBrowse link
G NLRP5 NLR family pyrin domain containing 5 ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality ClinVar NCBI chr 1:101,813,449...101,842,643
Ensembl chr 1:101,813,449...101,842,633
JBrowse link
G PARG poly(ADP-ribose) glycohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15591342 NCBI chr28:1,651,698...1,767,210
Ensembl chr28:1,652,670...1,766,895
JBrowse link
G SLC31A1 solute carrier family 31 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11391004 NCBI chr11:67,590,087...67,628,947
Ensembl chr11:67,591,080...67,625,798
JBrowse link
G UBE2N ubiquitin conjugating enzyme E2 N ISO CTD Direct Evidence: marker/mechanism CTD PMID:16738225 NCBI chr10:41,470,073...41,470,738
Ensembl chr10:41,470,073...41,470,738
JBrowse link
Familial Gestational Hyperthyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSHR thyroid stimulating hormone receptor ISO OMIM NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898
JBrowse link
fetal akinesia deformation sequence syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530
JBrowse link
G ADSS1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 8:72,288,246...72,305,479
Ensembl chr 8:72,288,323...72,305,479
JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr35:22,560,005...22,590,996
Ensembl chr35:22,560,008...22,587,875
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr16:41,297,215...41,335,521
Ensembl chr16:41,297,809...41,323,078
JBrowse link
G ASCC1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28749478 PMID:31680123 NCBI chr 4:22,779,644...22,876,434
Ensembl chr 4:22,779,781...22,874,215
JBrowse link
G ASPM assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:5,591,530...5,663,673
Ensembl chr 7:5,590,957...5,660,919
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr  X:121,355,217...121,405,245
Ensembl chr  X:121,361,239...121,403,609
JBrowse link
G AVEN apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr30:1,000,781...1,179,463
Ensembl chr30:991,954...1,179,114
JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr25:44,166,089...44,175,047
Ensembl chr25:44,165,819...44,174,216
JBrowse link
G CNTNAP1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:20,293,184...20,307,708
Ensembl chr 9:20,293,170...20,307,662
JBrowse link
G DOK7 docking protein 7 ISO ClinVar Annotator: match by term: Pena-Shokeir syndrome type I ClinVar PMID:2261499 PMID:9536098 PMID:16199547 PMID:16794080 PMID:16917026 More... NCBI chr 3:60,873,298...60,897,047
Ensembl chr 3:60,869,206...60,897,318
JBrowse link
G DQX1 DEAQ-box RNA dependent ATPase 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr17:48,617,170...48,623,591
Ensembl chr17:48,617,613...48,623,591
JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825
JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 6:22,276,189...22,299,865
Ensembl chr 6:22,276,230...22,297,428
JBrowse link
G FBLN1 fibulin 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr10:20,498,097...20,564,776
Ensembl chr10:20,498,567...20,627,836
JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr31:5,742,744...6,010,881
Ensembl chr31:5,742,744...6,093,612
JBrowse link
G GCN1 GCN1 activator of EIF2AK4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr26:16,087,380...16,146,865
Ensembl chr26:16,087,382...16,146,813
JBrowse link
G GFRA4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr24:17,685,888...17,690,747
Ensembl chr24:17,686,817...17,690,056
JBrowse link
G GLDN gliomedin ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr30:17,082,380...17,145,424
Ensembl chr30:17,082,380...17,141,871
JBrowse link
G IQSEC3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr27:42,149,006...42,259,881
Ensembl chr27:42,148,956...42,256,790
JBrowse link
G KIAA1109 KIAA1109 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr19:17,841,450...18,047,002
Ensembl chr19:17,841,967...18,044,276
JBrowse link
G LGI4 leucine rich repeat LGI family member 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:117,443,569...117,452,367
Ensembl chr 1:117,444,941...117,452,381
JBrowse link
G MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr17:62,055,705...62,290,808
Ensembl chr17:62,057,610...62,291,157
JBrowse link
G MUSK muscle associated receptor tyrosine kinase ISO OMIM NCBI chr11:65,552,320...65,642,165
Ensembl chr11:65,551,889...65,642,349
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr10:23,303,950...23,312,409
Ensembl chr10:23,304,354...23,396,068
JBrowse link
G NALCN sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:27214504 PMID:31680123 NCBI chr22:50,821,983...51,142,000
Ensembl chr22:50,823,478...51,141,644
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More... NCBI chr 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723
JBrowse link
G PRG4 proteoglycan 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:19,360,034...19,377,005
Ensembl chr 7:19,364,609...19,376,999
JBrowse link
G PRICKLE1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr27:11,327,086...11,437,799
Ensembl chr27:11,426,647...11,437,303
JBrowse link
G RAPSN receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Pena-Shokeir syndrome type I
ClinVar Annotator: match by term: RAPSN-Related Disorders
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 More... NCBI chr18:42,199,160...42,210,668
Ensembl chr18:42,199,412...42,210,673
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 1:95,209,122...95,280,956
Ensembl chr 1:95,088,745...95,280,151
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:25658027 PMID:25735680 More... NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr30:1,179,575...1,533,352
Ensembl chr30:1,180,359...1,533,619
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:11,849,066...11,893,689
Ensembl chr 9:11,851,347...11,877,767
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482
JBrowse link
G SETBP1 SET binding protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 More... NCBI chr 7:46,020,892...46,378,867
Ensembl chr 7:46,020,889...46,378,005
JBrowse link
G SPAG16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr37:20,782,855...21,690,523
Ensembl chr37:20,782,867...21,690,333
JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr15:37,923,392...37,959,979
Ensembl chr15:37,932,891...37,959,246
JBrowse link
G UNC50 unc-50 inner nuclear membrane RNA binding protein ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr10:44,057,617...44,073,153
Ensembl chr10:44,057,775...44,073,074
JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:83,898,620...84,132,453
Ensembl chr 2:83,901,018...84,132,529
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr19:46,419,812...46,541,888
Ensembl chr19:46,423,998...46,542,122
JBrowse link
G ZNF875 zinc finger protein 875 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:115,286,448...115,308,123
Ensembl chr 1:115,286,493...115,348,660
JBrowse link
fetal akinesia deformation sequence syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAPSN receptor associated protein of the synapse ISO OMIM NCBI chr18:42,199,160...42,210,668
Ensembl chr18:42,199,412...42,210,673
JBrowse link
fetal akinesia deformation sequence syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOK7 docking protein 7 ISO OMIM NCBI chr 3:60,873,298...60,897,047
Ensembl chr 3:60,869,206...60,897,318
JBrowse link
fetal akinesia deformation sequence syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP88 nucleoporin 88 ISO OMIM NCBI chr 5:31,366,213...31,389,780
Ensembl chr 5:31,366,244...31,389,780
JBrowse link
fetal alcohol spectrum disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK3 ankyrin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29109170 NCBI chr 4:12,166,275...12,827,175
Ensembl chr 4:12,167,550...12,827,037
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:15007105 RGD:12904641 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G BPIFA1 BPI fold containing family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15513904 NCBI chr24:22,475,407...22,482,666
Ensembl chr24:22,457,631...22,482,661
JBrowse link
G CAT catalase ISO CTD Direct Evidence: therapeutic CTD PMID:26074427 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:22037411 PMID:23763370 RGD:13210751 RGD:13432044 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680
JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA:decreased expression:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO protein:decreased activity:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
JBrowse link
G NOS1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25511929 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332
JBrowse link
G PTEN phosphatase and tensin homolog ISO Protein:increased expression, increased activity:cerebellum (rat) RGD PMID:12700235 RGD:12801493 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G RPS6KA1 ribosomal protein S6 kinase A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29109170 NCBI chr 2:73,497,128...73,533,853
Ensembl chr 2:73,497,473...73,534,378
JBrowse link
fetal alcohol syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHOA ras homolog family member A ISO protein:increased activation:neuron, cerebellum RGD PMID:17109064 RGD:2298867 NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
JBrowse link
Fetal Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:11085286 RGD:11038921 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ATR ATR serine/threonine kinase ISO RGD PMID:15282542 RGD:150340675 NCBI chr23:38,131,956...38,223,888
Ensembl chr23:38,132,788...38,224,016
JBrowse link
G CDK8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: Fetal death ClinVar PMID:25741868 NCBI chr25:13,043,949...13,179,752
Ensembl chr25:13,045,343...13,179,656
JBrowse link
G F5 coagulation factor V no_association ISO RGD PMID:14706682 RGD:1580130 NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296
JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6635991 NCBI chr 2:75,290,594...75,324,593
Ensembl chr 2:75,290,596...75,324,496
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:20393889 RGD:12910472 NCBI chr37:7,010,421...7,025,912 JBrowse link
G LPAR1 lysophosphatidic acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11087877 NCBI chr11:65,690,806...65,822,166
Ensembl chr11:65,692,973...65,822,312
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:5067144 NCBI chr24:18,193,381...18,194,232
Ensembl chr24:18,193,339...18,194,170
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11023856 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
JBrowse link
G RDH10 retinol dehydrogenase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793605 NCBI chr29:21,886,014...21,912,451
Ensembl chr29:21,885,012...21,911,303
JBrowse link
G TFPI tissue factor pathway inhibitor ISO associated with Hemorrhage; RGD PMID:9242522 RGD:11060259 NCBI chr36:29,457,131...29,546,455
Ensembl chr36:29,459,371...29,511,310
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO associated with Endotoxemia; human protein in rat model RGD PMID:21187445 RGD:5131261 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
JBrowse link
Fetal Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10195895 PMID:10195896 PMID:10346820 PMID:20961246 NCBI chr28:12,964,670...13,001,557
Ensembl chr28:12,965,479...13,001,512
JBrowse link
G NOS2 nitric oxide synthase 2 ISO associated with Diabetes Mellitus, Experimental RGD PMID:19283362 RGD:2313217 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G PRKCB protein kinase C beta ISO associated with Diabetes Mellitus, Experimental;protein:increased expression RGD PMID:15496608 RGD:1625524 NCBI chr 6:21,742,970...22,064,360
Ensembl chr 6:21,742,973...22,065,185
JBrowse link
G PRSS8 serine protease 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22705055 NCBI chr 6:17,110,251...17,114,564
Ensembl chr 6:17,110,300...17,114,816
JBrowse link
fetal encasement syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO OMIM NCBI chr28:12,964,670...13,001,557
Ensembl chr28:12,965,479...13,001,512
JBrowse link
fetal erythroblastosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERMAP erythroblast membrane associated protein ISO ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chr15:527,726...543,364
Ensembl chr15:526,067...543,638
JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr12:11,978,337...11,982,265
Ensembl chr12:11,978,422...12,008,579
JBrowse link
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr12:12,632,233...12,644,669
Ensembl chr12:12,634,194...12,644,667
JBrowse link
Fetal Growth Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO mRNA:increased expression:placenta RGD PMID:16225763 RGD:2306659 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
JBrowse link
G ACE angiotensin I converting enzyme ISO mRNA:increased expression:kidney (rat) RGD PMID:24847689 RGD:12879387 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G ADIPOR1 adiponectin receptor 1 treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chr 7:240,035...254,287
Ensembl chr 7:240,065...282,845
JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chr27:43,739,269...43,840,116
Ensembl chr27:43,741,679...43,878,467
JBrowse link
G AGT angiotensinogen ISO mRNA,protein:increased expression:kidney,urine:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17537837 PMID:20530295 PMID:26270574 RGD:11538508 RGD:13432363 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:21303825 RGD:5129179 NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:21303825 RGD:5129179 NCBI chr  X:88,703,551...88,708,451
Ensembl chr  X:88,705,765...88,706,853
JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) RGD PMID:26320891 RGD:13434923 NCBI chr28:9,101,578...9,148,063
Ensembl chr28:9,102,282...9,147,992
JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 ISO protein:increased expression:serum (human) RGD PMID:25724728 RGD:14696679 NCBI chr 9:48,475,777...48,486,715
Ensembl chr 9:48,471,584...48,609,303
JBrowse link
G APOE apolipoprotein E ISO mRNA:increased expression:adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G APOH apolipoprotein H ISO RGD PMID:24642748 RGD:10054118 NCBI chr 9:14,082,648...14,095,186
Ensembl chr 9:14,082,541...14,095,185
JBrowse link
G ARG1 arginase 1 ISO RNA:increased expression:thoracic aorta: RGD PMID:29741931 RGD:13792602 NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO protein:increased expression:retroperitoneal fat pad (rat) RGD PMID:26633942 RGD:13703049 NCBI chr 7:45,118,188...45,127,048
Ensembl chr 7:45,117,657...45,127,048
JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO protein:decreased expression:liver (rat) RGD PMID:26342040 RGD:13782135 NCBI chr10:870,405...876,937
Ensembl chr10:870,392...909,161
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:22710965 RGD:9068402 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO RGD PMID:3973436 RGD:2303532 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO mRNA:decreased expression:distal epiphyseal plate of femur (rat) RGD PMID:22995397 RGD:8661261 NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733
JBrowse link
G COMT catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23667712 NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO RGD PMID:3973436 RGD:2303532 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G CTH cystathionine gamma-lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451
JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO mRNA:increased expression:adrenal gland, maternal (rat) RGD PMID:17881205 RGD:4832477 NCBI chr30:37,474,997...37,487,028
Ensembl chr30:37,473,901...37,487,507
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO mRNA:increased expression:placenta RGD PMID:16225763 PMID:17706398 PMID:18442069 RGD:11576311 RGD:11576317 RGD:2306659 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G DES desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776119 NCBI chr 8:68,961,975...68,970,106
Ensembl chr 8:68,961,744...68,972,761
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA:increased expression:adrenal gland:
mRNA,protein:decreased expression:hippocampus:
mRNA:decreased expression:kidney:
RGD PMID:12869365 PMID:16380407 PMID:24717552 RGD:9588242 RGD:9588619 RGD:9590296 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO RGD PMID:12487923 RGD:7771581 NCBI chr 4:39,588,833...39,591,065
Ensembl chr 4:39,588,339...39,590,514
JBrowse link
G DUSP5 dual specificity phosphatase 5 ISO RGD PMID:16940436 RGD:2317872 NCBI chr28:21,829,891...21,844,590
Ensembl chr28:21,829,921...21,841,454
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 More... NCBI chr 5:28,566,604...28,727,416
Ensembl chr 5:28,388,664...28,727,334
JBrowse link
G ELK1 ETS transcription factor ELK1 ISO mRNA:decreased expression:placenta RGD PMID:20008130 RGD:7488901 NCBI chr  X:41,256,205...41,270,656
Ensembl chr  X:41,257,482...41,270,776
JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO associated with protein:increased expression:serum:
associated with Pre-Eclampsia;DNA:SNP:promoter:-670A>G (human)
RGD PMID:15695771 PMID:16169656 RGD:12903973 RGD:12904025 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FASLG Fas ligand severity ISO protein:increased expression:amniotic fluid:
associated with protein:increased expression:serum:
RGD PMID:16169656 PMID:23582102 RGD:12903972 RGD:12904025 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO mRNA:increased expression:liver
mRNA, protein:decreased expression:liver (rat)
RGD PMID:15448092 PMID:23744881 RGD:14695550 RGD:2315963 NCBI chr 9:20,132,973...20,143,642
Ensembl chr 9:20,132,978...20,143,642
JBrowse link
G GHRL ghrelin and obestatin prepropeptide disease_progression ISO RGD PMID:20637157 RGD:12904883 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510
JBrowse link
G GHSR growth hormone secretagogue receptor disease_progression ISO RGD PMID:20637157 RGD:12904883 NCBI chr34:36,691,132...36,694,304
Ensembl chr34:36,690,224...36,694,312
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19500843 NCBI chr 4:34,629,046...34,662,711 JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 ISO protein:decreased expression:cerebral cortical neuron (rat) RGD PMID:20398734 RGD:4107070 NCBI chr 4:55,801,269...56,103,383
Ensembl chr 4:55,803,296...56,103,669
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO protein:decreased expression:cerebral cortical neuron (rat) RGD PMID:20398734 RGD:4107070 NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:20423831 RGD:13210763 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO mRNA:decreased expression RGD PMID:11124150 RGD:1599884 NCBI chr17:20,307,207...20,355,659
Ensembl chr17:20,307,226...20,355,508
JBrowse link
G HDAC1 histone deacetylase 1 ISO protein:decreased expression, decreased activity:hippocampus:
mRNA:increased expression:adrenal gland:
RGD PMID:16380407 PMID:18464933 PMID:24717552 RGD:2311214 RGD:9588242 RGD:9590296 NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186
JBrowse link
G HDAC2 histone deacetylase 2 ISO mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO DNA:altered methylation:prompter: RGD PMID:20126273 RGD:12904699 NCBI chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 RGD:2308941 NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991
JBrowse link
G IGF1 insulin like growth factor 1 treatment
onset
ISO human protein in a rat model
protein:decreased expression:placenta labyrinth (rat)
mRNA:decreased expression:liver
RGD PMID:9284279 PMID:15506645 PMID:19088829 PMID:24239160 RGD:12904720 RGD:12910460 RGD:1600258 RGD:2306715 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IGF1R insulin like growth factor 1 receptor onset ISO protein:decreased expression:placenta labyrinth (rat)
CTD Direct Evidence: marker/mechanism
protein:increased expression:liver, lung (rat)
DNA:point mutation:exon:p.R108Q, p.K115N (human)
RGD
CTD
PMID:12536576 PMID:14657428 PMID:24239160 RGD:12904720 RGD:12904724 RGD:1624299 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism
mRNA:altered expresssion:liver,placenta:
CTD
RGD
PMID:1408464 PMID:12087403 PMID:16040806 RGD:14985247 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO mRNA:increased expresssion:fetus: RGD PMID:1408464 RGD:14985247 NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 treatment ISO DNA:hypermethylation:promoter:
protein:decreased expression:serum:
protein:increased expression:Amniotic fluid:
mRNA:increased expression:placenta:
protein:increased expression:brain
RGD PMID:15506645 PMID:16923367 PMID:19217707 PMID:19591553 PMID:21823995 More... RGD:10402581 RGD:12743583 RGD:12743585 RGD:12743590 RGD:12743599 RGD:1600258 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G IL1A interleukin 1 alpha ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IRS1 insulin receptor substrate 1 ISO mRNA,protein:decreased expression:growth plate: RGD PMID:22995397 RGD:8661261 NCBI chr25:39,624,554...39,687,991 JBrowse link
G IRS2 insulin receptor substrate 2 ISO RGD PMID:20720385 RGD:7257699 NCBI chr22:58,197,016...58,229,026
Ensembl chr22:58,223,387...58,227,535
JBrowse link
G LEP leptin ISO RGD PMID:21353474 RGD:5128507 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
JBrowse link
G MDM2 MDM2 proto-oncogene ISO mRNA:decreased expression:cerebrum (rat) RGD PMID:15563574 RGD:2317395 NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596
JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO mRNA,protein:decreased expression:hippocampus: RGD PMID:16380407 RGD:9588242 NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-1306C>T (human)
CTD
RGD
PMID:17367869 PMID:28157488 RGD:13204803 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP: :401A>G(human)
DNA:SNP:cds:1958G>A(human)
RGD PMID:18771981 PMID:22378735 PMID:25118499 RGD:12910955 RGD:12910958 RGD:12914148 NCBI chr 8:38,831,672...38,889,607
Ensembl chr 8:38,831,860...38,889,453
JBrowse link
G MUC1 mucin 1, cell surface associated ISO RGD PMID:19287349 RGD:7349369 NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:19287349 RGD:7349369 NCBI chr18:45,416,347...45,438,226 JBrowse link
G MUC4 mucin 4, cell surface associated ISO RGD PMID:19287349 RGD:7349369 NCBI chr33:29,061,372...29,084,938
Ensembl chr33:29,063,096...29,111,802
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 treatment ISO protein:decreased expression:placenta RGD PMID:23910525 PMID:25171874 RGD:10412716 RGD:26884462 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
JBrowse link
G NOS1 nitric oxide synthase 1 ISO associated with hyperinsulinemia; protein:decreased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332
JBrowse link
G NOS2 nitric oxide synthase 2 ISO associated with hyperinsulinemia; protein:increased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism
associated with hyperinsulinemia; protein:decreased expression:placenta
RNA, protein:increased expression:thoracic aorta:
CTD
RGD
PMID:19709742 PMID:22421449 PMID:23667712 PMID:29741931 RGD:13792602 RGD:5132592 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 PMID:20388836 RGD:2308941 RGD:4892120 NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755
JBrowse link
G ORC1 origin recognition complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr15:8,965,339...8,995,527
Ensembl chr15:8,971,732...8,995,481
JBrowse link
G OTC ornithine transcarbamylase ISO mRNA:altered expression:liver (rat) RGD PMID:8929856 RGD:4144077 NCBI chr  X:33,130,921...33,200,441
Ensembl chr  X:33,131,040...33,199,595
JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO mRNA:decreased expression:liver: RGD PMID:12538794 RGD:10448276 NCBI chr24:42,538,858...42,544,200
Ensembl chr24:42,538,882...42,544,198
JBrowse link
G PDGFA platelet derived growth factor subunit A ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr 6:16,271,082...16,293,246
Ensembl chr 6:16,270,104...16,292,396
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 ISO mRNA:decreased expression:pancreas (rat)
mRNA:decreased expression:pancreatic islet
RGD PMID:12606515 PMID:18464933 RGD:2311214 RGD:2311220 NCBI chr25:11,741,863...11,746,885
Ensembl chr25:11,741,863...11,746,885
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO mRNA:decreased expression:lung (rat) RGD PMID:21425435 RGD:8552971 NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA, protein:increased expression:liver (rat) RGD PMID:18433551 RGD:10059649 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
JBrowse link
G PRDX6 peroxiredoxin 6 ISO protein:decreased expression:placenta RGD PMID:25171874 RGD:26884462 NCBI chr 7:25,663,238...25,675,855
Ensembl chr 7:25,663,579...25,675,754
JBrowse link
G PTGER3 prostaglandin E receptor 3 ISO mRNA, protein:increased expression:placenta (rat) RGD PMID:15990166 RGD:10043194 NCBI chr 6:74,932,789...74,986,573 JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 RGD:2308941 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 treatment ISO with postnatal growth restriction RGD PMID:19491300 RGD:12743586 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G RBP1 retinol binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr23:35,677,844...35,698,194
Ensembl chr23:35,679,176...35,698,363
JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17537837 NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012
JBrowse link
G SERPINE1 serpin family E member 1 ISO associated with Pre-Eclampsia;protein:increased expression:plasma,placenta: RGD PMID:8018914 RGD:13208595 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO RGD PMID:18464933 RGD:2311214 NCBI chr30:38,231,844...38,306,665
Ensembl chr30:38,232,680...38,382,635
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO protein:increased expression:placenta
mRNA, protein:increased expression:liver
RGD PMID:9886959 PMID:11738800 RGD:12879480 RGD:730192 NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140
JBrowse link
G SLC2A2 solute carrier family 2 member 2 ISO mRNA, protein:decreased expression:liver RGD PMID:9886959 RGD:12879480 NCBI chr34:35,368,583...35,398,197
Ensembl chr34:35,370,192...35,400,409
JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO protein:increased expression:placenta RGD PMID:11738800 RGD:730192 NCBI chr27:37,297,932...37,309,604
Ensembl chr27:37,297,932...37,428,410
JBrowse link
G SLC38A2 solute carrier family 38 member 2 ISO mRNA, protein:decreased expression:placenta RGD PMID:21812961 RGD:9999212 NCBI chr27:8,056,289...8,068,988
Ensembl chr27:8,018,880...8,066,331
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21893188 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO RGD PMID:19017816 RGD:2308805 NCBI chr 5:41,663,809...41,686,764
Ensembl chr 5:41,663,773...41,686,776
JBrowse link
G STAR steroidogenic acute regulatory protein ISO mRNA:increased expression:adrenal gland, maternal (rat) RGD PMID:17881205 RGD:4832477 NCBI chr16:27,326,355...27,331,025
Ensembl chr16:27,326,355...27,331,025
JBrowse link
G TFF3 trefoil factor 3 ISO RGD PMID:19287349 RGD:7349369 NCBI chr31:36,638,762...36,641,696 JBrowse link
G UNC13A unc-13 homolog A ISO RGD PMID:18787382 RGD:5686390 NCBI chr20:45,179,275...45,237,544
Ensembl chr20:45,188,750...45,238,115
JBrowse link
G VDR vitamin D receptor ISO mRNA,protein:decreased expression:placenta: RGD PMID:25716068 RGD:11058690 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:25741868 PMID:28492532 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935
JBrowse link
Fetal Hypoxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRH corticotropin releasing hormone ISO protein:increased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chr29:15,831,944...15,840,560
Ensembl chr29:15,831,944...15,834,384
JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 ISO protein:increased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chr 9:9,708,696...9,763,281
Ensembl chr 9:9,714,204...9,763,402
JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO protein:decreased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chr14:43,366,849...43,414,398
Ensembl chr14:43,368,340...43,415,142
JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:23427086 RGD:10395301 NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:altered expression:heart (rat) RGD PMID:21856922 RGD:7207283 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO protein:increased expression:heart (rat) RGD PMID:21856922 RGD:7207283 NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121
JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:17310378 RGD:1642145 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332
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 DNA:mutations: : RGD PMID:17407387 PMID:19435144 RGD:12904698 RGD:12904767 NCBI chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G LIPC lipase C, hepatic type ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) RGD PMID:10600655 RGD:2308786 NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037
JBrowse link
Fetal Nutrition Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAOA monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22340208 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757
JBrowse link
Fetal Resorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOH apolipoprotein H ISO RGD PMID:24642748 RGD:10054118 NCBI chr 9:14,082,648...14,095,186
Ensembl chr 9:14,082,541...14,095,185
JBrowse link
G PRL prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:3816235 NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
JBrowse link
Galactorrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRL prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20083845 NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
JBrowse link
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 CTD Direct Evidence: marker/mechanism
protein:decreased expression:serum
CTD
RGD
PMID:15126557 PMID:19626510 PMID:23608331 RGD:2313236 RGD:8695950 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G AHSG alpha 2-HS glycoprotein ISO protein:increased expression:serum RGD PMID:12153747 RGD:2313814 NCBI chr34:19,221,034...19,228,866
Ensembl chr34:19,221,107...19,228,716
JBrowse link
G APOD apolipoprotein D ISO RGD PMID:6828336 RGD:2311180 NCBI chr33:30,490,149...30,504,804
Ensembl chr33:30,488,135...30,509,289
JBrowse link
G AR androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr24:34,713,390...34,731,461
NCBI chr  X:51,969,785...52,167,450
Ensembl chr  X:51,969,785...52,151,912
JBrowse link
G BNIP3L BCL2 interacting protein 3 like ISO RGD PMID:26512955 RGD:11564338 NCBI chr25:31,133,512...31,149,750
Ensembl chr25:31,136,168...31,148,905
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO RGD PMID:18702087 RGD:2306986 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 ISO DNA:snp: :rs7756992,rs7754840(human) RGD PMID:19002430 RGD:2313946 NCBI chr35:19,138,904...19,802,545
Ensembl chr35:19,138,918...19,929,429
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353
JBrowse link
G DCN decorin ISO RGD PMID:16630654 RGD:2311413 NCBI chr15:31,833,492...31,887,699
Ensembl chr15:31,833,746...31,877,417
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G FOXM1 forkhead box M1 ISO RGD PMID:19833884 RGD:2315927 NCBI chr27:41,894,605...41,905,656
Ensembl chr27:41,894,672...41,905,663
JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO protein:increased activity:liver RGD PMID:12595588 RGD:2315965 NCBI chr 9:20,132,973...20,143,642
Ensembl chr 9:20,132,978...20,143,642
JBrowse link
G GAD2 glutamate decarboxylase 2 ISO RGD PMID:18588707 RGD:2313295 NCBI chr 2:7,365,708...7,450,893
Ensembl chr 2:7,365,283...7,450,893
JBrowse link
G GCK glucokinase ISO DNA:SNP:promoter:A allele of -30G>A associated with GDM (p=0.008)
ClinVar Annotator: match by term: Gestational diabetes
ClinVar Annotator: match by term: Diabetes mellitus, gestational
ClinVar Annotator: match by term: gestational diabetes
DNA:point mutation:exon:S131P
RGD
ClinVar
PMID:8068341 PMID:8132752 PMID:8433729 PMID:8446612 PMID:8495817 More... RGD:1601293 RGD:2301873
G GGT1 gamma-glutamyltransferase 1 ISO protein:increased activity:blood RGD PMID:18937705 RGD:2315598 NCBI chr26:28,301,455...28,315,029 JBrowse link
G GPX1 glutathione peroxidase 1 ISO RGD PMID:22342560 RGD:11353780 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
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) RGD PMID:16752173 RGD:2301873 NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:decidua, endothelial cell
protein:decreased expression:placenta
RGD PMID:17990298 PMID:19343356 RGD:2313469 RGD:2313476 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:22241286 RGD:10046048 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
JBrowse link
G IL10 interleukin 10 ISO protein:decreased expression:serum RGD PMID:18446686 RGD:2308947 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:extracellular space (human) RGD PMID:19408175 RGD:2307186 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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 chr18:8,272,978...8,288,432
Ensembl chr18:8,272,872...8,283,794
JBrowse link
G INS insulin ISO protein:increased expression:serum RGD PMID:19269197 RGD:2311131 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
JBrowse link
G INSR insulin receptor ISO mRNA, protein:increased expression:placenta (human) RGD PMID:19179458 PMID:22241286 RGD:10046048 RGD:2307336 NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
JBrowse link
G LEP leptin ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19269197 PMID:20421132 RGD:2311131 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
JBrowse link
G LOC479260 mannose-binding protein A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15472209 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MEN1 menin 1 ISO RGD PMID:17975067 RGD:2317319 NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340
JBrowse link
G MIR133A microRNA mir-133a ISO RGD PMID:26512955 RGD:11564338 NCBI chr 7:66,217,486...66,217,572
Ensembl chr 7:66,217,486...66,217,572
JBrowse link
G PLAT plasminogen activator, tissue type ISO RGD PMID:17259140 RGD:2311668 NCBI chr16:23,469,590...23,496,013 JBrowse link
G RETN resistin ISO protein:increased expression:serum RGD PMID:19408175 RGD:2307186 NCBI chr20:52,434,148...52,435,627
Ensembl chr20:52,434,271...52,435,624
JBrowse link
G SIRT3 sirtuin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23956348 NCBI chr18:25,369,183...25,388,126
Ensembl chr18:25,369,382...25,388,118
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23956348 PMID:30738174 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G SRRM1 serine and arginine repetitive matrix 1 ISO protein:increased glycation:placenta (human) RGD PMID:24308201 RGD:11038724 NCBI chr 2:75,018,637...75,053,908
Ensembl chr 2:75,019,339...75,049,398
JBrowse link
G TCF7L2 transcription factor 7 like 2 susceptibility ISO DNA:SNP (human) RGD PMID:18984664 RGD:2312455 NCBI chr28:23,966,079...24,162,775
Ensembl chr28:23,966,073...24,163,737
JBrowse link
G UTS2 urotensin 2 susceptibility ISO DNA:polymorphism RGD PMID:17327028 RGD:2306802 NCBI chr 5:61,503,268...61,508,146 JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO OMIM NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516
JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor ISO OMIM NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606
JBrowse link
Habitual Abortions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E ISO RGD PMID:19086990 RGD:11039490 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G CBX3 chromobox 3 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr14:39,510,694...39,520,796
Ensembl chr14:39,510,112...39,519,809
JBrowse link
G CCDC68 coiled-coil domain containing 68 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 1:20,644,302...20,688,615
Ensembl chr 1:20,656,190...20,687,998
JBrowse link
G CENPH centromere protein H ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 2:54,267,782...54,299,083
Ensembl chr 2:54,267,826...54,298,869
JBrowse link
G CREB5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30100398 NCBI chr14:41,397,016...41,891,273
Ensembl chr14:41,488,548...41,885,094
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: ABORTION, SPONTANEOUS, RECURRENT ClinVar PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:16414944 PMID:22581653 PMID:25741868 PMID:34398675 NCBI chr18:46,554,390...46,830,533
Ensembl chr18:46,518,908...46,830,043
JBrowse link
G LOC102152531 synaptonemal complex protein 3-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19110213 NCBI chr  X:121,060,275...121,074,166 JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNP: :1298A>C (human)
DNA:SNPs: :677C>T, 1298A>C (human)
RGD PMID:19906129 PMID:22047507 PMID:22882325 RGD:10449404 RGD:10449411 RGD:10449415 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G PIF1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr30:29,223,507...29,232,584
Ensembl chr30:29,157,119...29,232,043
JBrowse link
G PLK1 polo like kinase 1 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 6:22,165,338...22,176,847
Ensembl chr 6:22,165,338...22,176,441
JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 9:49,827,584...49,834,872
Ensembl chr 9:49,828,067...49,836,632
JBrowse link
G THBD thrombomodulin susceptibility ISO DNA:SNP: :1418C>T (human) RGD PMID:23954867 RGD:11038683 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
JBrowse link
HELLP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4B1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr17:51,701,663...51,732,022
Ensembl chr17:51,701,979...51,711,489
JBrowse link
G DCLRE1B DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome
ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome
ClinVar PMID:28492532 NCBI chr17:51,711,267...51,716,806
Ensembl chr17:51,711,284...51,716,345
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome ClinVar PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544 NCBI chr  X:122,838,787...122,850,870
Ensembl chr  X:122,838,645...122,850,884
JBrowse link
G SYT6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr17:51,859,564...51,923,044
Ensembl chr17:51,864,774...51,924,676
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785587 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
Hydatidiform Mole term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CGA glycoprotein hormones, alpha polypeptide ISO protein:increased expression:serum RGD PMID:2473429 RGD:2293636 NCBI chr12:46,610,801...46,629,322
Ensembl chr12:46,610,973...46,636,640
JBrowse link
G KHDC3L KH domain containing 3 like, subcortical maternal complex member ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydatidiform mole
CTD
ClinVar
PMID:25741868 NCBI chr12:35,434,123...35,435,679
Ensembl chr12:35,434,123...35,468,943
JBrowse link
G MLH1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MSH2 mutS homolog 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
JBrowse link
Hydatidiform Mole, Invasive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSH2 mutS homolog 2 ISO protein:decreased expression:mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
Hydatidiform Mole, Recurrent, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 ClinVar PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 More... NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620
JBrowse link
Hydatidiform Mole, Recurrent, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KHDC3L KH domain containing 3 like, subcortical maternal complex member ISO OMIM NCBI chr12:35,434,123...35,435,679
Ensembl chr12:35,434,123...35,468,943
JBrowse link
Hydatidiform Mole, Recurrent, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEI1 meiotic double-stranded break formation protein 1 ISO OMIM NCBI chr10:23,533,749...23,606,875
Ensembl chr10:23,518,214...23,606,816
JBrowse link
Hydatidiform Mole, Recurrent, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C18H11orf80 chromosome 18 C11orf80 homolog ISO OMIM NCBI chr18:50,512,681...50,617,666
Ensembl chr18:50,549,497...50,560,943
JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530
JBrowse link
G ALB albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
JBrowse link
G C7H1orf105 chromosome 7 C1orf105 homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:26,490,012...26,561,542 JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr 1:16,597,389...16,819,888
Ensembl chr 1:16,597,334...16,819,894
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr36:18,726,243...18,742,505
Ensembl chr36:18,726,243...18,742,505
JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr24:33,183,090...33,189,248
Ensembl chr24:33,183,090...33,189,248
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921
JBrowse link
G DNAH14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:39,310,580...39,648,017
Ensembl chr 7:39,310,585...39,641,151
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:35,730,394...36,060,154
Ensembl chr 5:35,730,394...36,058,945
JBrowse link
G FOXC2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:66,234,336...66,296,007
Ensembl chr 5:66,294,176...66,295,693
JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:25741868 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr13:4,732,541...4,771,294
Ensembl chr13:4,733,017...4,772,115
JBrowse link
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr17:24,535,870...24,740,998
Ensembl chr17:24,535,897...24,740,889
JBrowse link
G GUSB glucuronidase beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 More... NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema
ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hydrops fetalis, non-immune ClinVar PMID:25741868 PMID:28492532 NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LOC476149 nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:26036949 PMID:26841830 PMID:28492532 NCBI chr19:52,720,427...52,921,064
Ensembl chr19:52,569,894...52,919,792
JBrowse link
G LOC610540 pulmonary surfactant-associated protein A-like ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr 4:29,430,139...29,434,640 JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema
ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25303977 PMID:25741868 NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611
JBrowse link
G MYO18A myosin XVIIIA ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr 9:43,226,170...43,325,026
Ensembl chr 9:43,227,187...43,322,545
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740
JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr18:54,690,073...54,723,046
Ensembl chr18:54,692,453...54,723,085
JBrowse link
G NEU1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr12:1,323,659...1,327,989
Ensembl chr12:1,323,877...1,328,520
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hydrops fetalis
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar PMID:25741868 PMID:30244526 PMID:31680349 NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375
JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:26,548,894...26,551,702
Ensembl chr 7:26,550,524...26,551,417
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G RAPSN receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr18:42,199,160...42,210,668
Ensembl chr18:42,199,412...42,210,673
JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:25049390 PMID:25124994 PMID:25741868 More... NCBI chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173
JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:7,931,786...8,012,484
Ensembl chr17:7,934,739...8,178,707
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:21911697 More... NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 NCBI chr28:22,241,886...22,338,418
Ensembl chr28:22,285,125...22,336,545
JBrowse link
G SLC26A3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 NCBI chr18:12,817,177...12,843,502
Ensembl chr18:12,808,806...12,843,076
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr25:197,294...223,804
Ensembl chr25:201,301...223,560
JBrowse link
G UBN1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 6:36,542,266...36,581,789
Ensembl chr 6:36,544,405...36,581,797
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chr20:42,891,823...43,080,987
Ensembl chr20:42,892,801...43,081,197
JBrowse link
IMAGe syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1C cyclin dependent kinase inhibitor 1C ISO OMIM NCBI chr18:46,860,636...46,861,697 JBrowse link
IMAGEI Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLE DNA polymerase epsilon, catalytic subunit ISO OMIM NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917
JBrowse link
intrahepatic cholestasis of pregnancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571
JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cholestasis of pregnancy
CTD
ClinVar
PMID:15239083 PMID:15888793 PMID:19731236 PMID:20981092 PMID:22995991 More... NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904
JBrowse link
G HDAC3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682
JBrowse link
G IL18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
JBrowse link
intrahepatic cholestasis of pregnancy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP8B1 ATPase phospholipid transporting 8B1 ISO OMIM NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904
JBrowse link
intrahepatic cholestasis of pregnancy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy 3 ClinVar PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 More... NCBI chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO OMIM NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571
JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:11279527 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 More... NCBI chr 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724
JBrowse link
G LDLRAD2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:77,368,930...77,377,385
Ensembl chr 2:77,368,634...77,377,126
JBrowse link
Lymphatic Malformation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB4 EPH receptor B4 ISO OMIM NCBI chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324
JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALCRL calcitonin receptor like receptor ISO OMIM NCBI chr36:29,342,869...29,442,977
Ensembl chr36:29,345,236...29,442,732
JBrowse link
mastitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO RGD PMID:8746955 RGD:7401278 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G CCL4 chemokine (C-C motif) ligand 4 ISO associated with HIV Infections RGD PMID:16250882 RGD:5683897 NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16041010 NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:mammary gland: RGD PMID:21691936 RGD:7777124 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TLR9 toll like receptor 9 resistance ISO mRNA:increased expression:mammary gland (rat) RGD PMID:17321466 RGD:5130197 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114
JBrowse link
Maternal Phenylketonuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAH phenylalanine hydroxylase ISO RGD PMID:14654659 RGD:1601526 NCBI chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837
JBrowse link
G PSPH phosphoserine phosphatase ISO RGD PMID:7201630 RGD:2308873 NCBI chr 6:493,152...546,176
Ensembl chr 6:493,176...512,089
JBrowse link
meconium aspiration syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen ISO mRNA:increased expression:lung RGD PMID:14605247 RGD:11039054 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G AGTR2 angiotensin II receptor type 2 treatment ISO RGD PMID:14605247 RGD:11039054 NCBI chr  X:88,703,551...88,708,451
Ensembl chr  X:88,705,765...88,706,853
JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 ISO protein:increased expression:broncho-alveolar lavage fluid, meconium: RGD PMID:21567110 RGD:5144123 NCBI chr18:54,187,487...54,191,493
Ensembl chr18:54,187,487...54,191,482
JBrowse link
Megaduodenum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Megacystis ClinVar PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25741868 More... NCBI chr17:49,144,184...49,168,872
Ensembl chr17:49,104,546...49,168,782
JBrowse link
G FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: Fetal megacystis ClinVar PMID:25741868 NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935
JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCNT pericentrin ISO ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism ClinVar PMID:18414213 PMID:28492532 NCBI chr31:39,576,344...39,677,118
Ensembl chr31:39,578,039...39,676,820
JBrowse link
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLASP1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1
ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia
ClinVar PMID:12605445 PMID:21474760 PMID:21474761 PMID:21977988 PMID:22581640 More... NCBI chr19:28,563,189...28,830,503
Ensembl chr19:28,595,040...28,827,645
JBrowse link
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCNT pericentrin ISO OMIM NCBI chr31:39,576,344...39,677,118
Ensembl chr31:39,578,039...39,676,820
JBrowse link
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO OMIM NCBI chr36:18,726,243...18,742,505
Ensembl chr36:18,726,243...18,742,505
JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit ISO OMIM NCBI chr25:44,166,089...44,175,047
Ensembl chr25:44,165,819...44,174,216
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit ISO OMIM NCBI chr25:44,178,149...44,183,623
Ensembl chr25:44,178,181...44,183,626
JBrowse link
G LOC100856086 tigger transposable element-derived protein 1-like ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:99,378,328...99,401,217 JBrowse link
G PRSS56 serine protease 56 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:19526372 PMID:21532570 PMID:24033266 PMID:28492532 NCBI chr25:44,157,247...44,165,625
Ensembl chr25:44,160,615...44,165,625
JBrowse link
Neonatal Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3A RNA polymerase III subunit A ISO OMIM NCBI chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436
JBrowse link
Neu-Laxova syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHGDH phosphoglycerate dehydrogenase ISO OMIM NCBI chr17:56,806,912...56,833,765 JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:80,376,469...80,408,177
Ensembl chr 1:80,377,115...80,408,162
JBrowse link
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:29879995 NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063
JBrowse link
oligohydramnios term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INF2 inverted formin 2 ISO ClinVar Annotator: match by term: Oligohydramnios ClinVar PMID:25741868 NCBI chr 8:72,275,209...72,284,991 JBrowse link
G PDGFA platelet derived growth factor subunit A ISO mRNA, protein:increased expression:lung RGD PMID:17519529 RGD:2292203 NCBI chr 6:16,271,082...16,293,246
Ensembl chr 6:16,270,104...16,292,396
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA, protein:increased expression:lung RGD PMID:17519529 RGD:2292203 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO mRNA:increased expression:lung RGD PMID:17519529 RGD:2292203 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:lung RGD PMID:17519529 RGD:2292203 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
JBrowse link
G PDPN podoplanin ISO mRNA, protein:decreased expression:lung RGD PMID:11839536 RGD:2292243 NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Oligohydramnios ClinVar PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 More... NCBI chr12:19,280,866...19,744,669
Ensembl chr12:19,286,822...19,744,141
JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Oligohydramnios ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 More... NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559
JBrowse link
Perinatal Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDNRB endothelin receptor type B ISO RGD PMID:8570650 RGD:628515 NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587
JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr 6:16,448,603...16,497,064
Ensembl chr 6:16,448,588...16,497,752
JBrowse link
G FANCD2 FA complementation group D2 ISO RGD PMID:12893777 RGD:11344906 NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568
JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr11:17,311,238...17,551,536
Ensembl chr11:17,311,226...17,551,536
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242822 NCBI chr 4:26,844,250...27,338,271
Ensembl chr 4:26,844,250...27,555,776
JBrowse link
G LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25741868 NCBI chr 9:52,970,313...53,028,817
Ensembl chr 9:52,970,306...53,028,821
JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:22958903 PMID:25558065 NCBI chr23:12,094,306...12,235,491
Ensembl chr23:12,094,778...12,143,214
JBrowse link
G SPDL1 spindle apparatus coiled-coil protein 1 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr 4:42,214,997...42,235,282
Ensembl chr 4:41,780,436...42,235,177
JBrowse link
G WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 PMID:25741868 PMID:28556411 NCBI chr 9:45,860,200...45,875,439
Ensembl chr 9:45,859,455...45,875,439
JBrowse link
Perlman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism ClinVar PMID:25741868 NCBI chr22:26,908,502...26,935,368
Ensembl chr22:26,909,409...26,935,033
JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 ISO OMIM NCBI chr25:43,754,382...44,099,497
Ensembl chr25:43,754,484...44,095,381
JBrowse link
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTF1A pancreas associated transcription factor 1a ISO OMIM NCBI chr 2:10,069,594...10,071,360
Ensembl chr 2:10,069,581...10,071,336
JBrowse link
placenta disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12087403 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G PRSS8 serine protease 8 ISO CTD Direct Evidence: therapeutic CTD PMID:24722141 NCBI chr 6:17,110,251...17,114,564
Ensembl chr 6:17,110,300...17,114,816
JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24722141 NCBI chr 1:114,699,050...114,727,802
Ensembl chr 1:114,699,241...114,727,763
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16007645 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
placental abruption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHMT betaine--homocysteine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17376725 NCBI chr 3:27,732,381...27,752,168
Ensembl chr 3:27,734,108...27,752,046
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15633187 NCBI chr 8:38,831,672...38,889,607
Ensembl chr 8:38,831,860...38,889,453
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11354626 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa susceptibility ISO RGD PMID:9855597 RGD:11564329 NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563
JBrowse link
placental insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR1 angiotensin II receptor type 1 ISO mRNA, protein:increased expression:placenta RGD PMID:20621762 RGD:5147460 NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO mRNA, protein:altered expression:hippocampus (rat) RGD PMID:20662593 RGD:4890445 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353
JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:20809703 RGD:10400897 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
JBrowse link
G GJB3 gap junction protein beta 3 ISO RGD PMID:11237463 RGD:12436730 NCBI chr15:7,175,010...7,177,145 JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO mRNA, protein:altered expression:hippocampus (rat) RGD PMID:19144756 RGD:2326049 NCBI chr 9:48,492,967...48,513,981
Ensembl chr 9:48,493,287...48,509,050
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO protein:decreased expression:hippocampus (rat) RGD PMID:19144756 RGD:2326049 NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO protein:increased expression:hippocampus (rat) RGD PMID:19144756 RGD:2326049 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680
JBrowse link
G ITGA2 integrin subunit alpha 2 ISO mRNA:decreased expression:placenta (rat) RGD PMID:20621762 RGD:5147460 NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983
JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 ISO mRNA:increased expression:placenta (rat) RGD PMID:17893880 RGD:2311215 NCBI chr25:11,741,863...11,746,885
Ensembl chr25:11,741,863...11,746,885
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA, protein:decreased expression:gastrocnemius muscle (rat) RGD PMID:18319353 RGD:10059693 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:plasma: RGD PMID:26903689 RGD:11557202 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
polyhydramnios term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLDN gliomedin ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 PMID:27616481 PMID:28726266 PMID:31680349 NCBI chr30:17,082,380...17,145,424
Ensembl chr30:17,082,380...17,141,871
JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9349812 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:15781747 PMID:15840476 PMID:19716085 PMID:19841300 PMID:22581653 More... NCBI chr18:46,554,390...46,830,533
Ensembl chr18:46,518,908...46,830,043
JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase ISO associated with Diabetes Mellitus RGD PMID:1789335 RGD:2311543 NCBI chr 3:12,668,994...12,766,712
Ensembl chr 3:12,681,577...12,767,183
JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 NCBI chr  X:118,820,644...118,917,166
Ensembl chr  X:118,820,494...118,916,368
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 PMID:30244526 PMID:31680349 NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375
JBrowse link
G SLC26A3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 NCBI chr18:12,817,177...12,843,502
Ensembl chr18:12,808,806...12,843,076
JBrowse link
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STRADA STE20 related adaptor alpha ISO OMIM NCBI chr 9:11,684,905...11,712,515
Ensembl chr 9:11,684,663...11,712,432
JBrowse link
postpartum depression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 ISO RGD PMID:17033197 RGD:1598630 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G TPH1 tryptophan hydroxylase 1 ISO RGD PMID:15544576 RGD:1580465 NCBI chr21:40,545,379...40,571,620
Ensembl chr21:40,547,682...40,566,572
JBrowse link
pre-eclampsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Preeclampsia, susceptibility to
DNA:polymorphism: :p.M235T (human)
CTD
ClinVar
RGD
PMID:7649545 PMID:7883995 PMID:8348146 PMID:8513325 PMID:8518804 More... RGD:1300394 RGD:13432363 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 ISO DNA:missense mutation:cds:p.V386A (human) RGD PMID:15569322 RGD:1576428 NCBI chr13:36,866,476...36,880,625 JBrowse link
G 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
JBrowse link
G DDAH2 dimethylarginine dimethylaminohydrolase 2 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:15472115 PMID:18679377 PMID:28628106 RGD:1582493 NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G LOC607874 cystatin-C-like ISO protein:increased expression:plasma (human) RGD PMID:18197549 RGD:2314350 NCBI chr23:49,562...53,618 JBrowse link
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 JBrowse link
G MIR152 microRNA mir-152 ISO miRNA:increased expression:placenta RGD PMID:31114978 RGD:21066344 NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Preeclampsia ClinVar PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 PMID:21196496 More... NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999
JBrowse link
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
JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
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
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO RGD PMID:15562025 RGD:1580687 NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G STOX1 storkhead box 1 no_association ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.Y153H (human)
human fetally expressed gene in a mouse model
CTD
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:15901845 RGD:1580314 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G 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
JBrowse link
G UTS2 urotensin 2 ISO RGD PMID:15866083 RGD:1580806 NCBI chr 5:61,503,268...61,508,146 JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:16517614 RGD:1580566 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
Preeclampsia/Eclampsia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOS3 nitric oxide synthase 3 ISO OMIM NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
Preeclampsia/Eclampsia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STOX1 storkhead box 1 ISO OMIM NCBI chr 4:20,013,893...20,065,480
Ensembl chr 4:20,014,007...20,060,394
JBrowse link
Preeclampsia/Eclampsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CORIN corin, serine peptidase ISO OMIM NCBI chr13:43,501,287...43,737,522
Ensembl chr13:43,502,665...43,737,813
JBrowse link
Preeclamptic Toxemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
Pregnancy Complications, Infectious term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E treatment ISO RGD PMID:22341339 RGD:12904700 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
Pregnancy in Diabetics term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT2 angiopoietin 2 ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma RGD PMID:15209761 RGD:2313816 NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701
JBrowse link
G APOH apolipoprotein H ISO RGD PMID:11795690 RGD:2313988 NCBI chr 9:14,082,648...14,095,186
Ensembl chr 9:14,082,541...14,095,185
JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO mRNA:increased expression:embryo: RGD PMID:18323671 RGD:9586066 NCBI chr  X:123,081,262...123,143,509
Ensembl chr  X:123,081,050...123,140,133
JBrowse link
G ENG endoglin ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression: serum RGD PMID:18985316 RGD:2313806 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
JBrowse link
G FGF2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:14706681 RGD:2315876 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G GC GC vitamin D binding protein ISO protein:decreased expression:plasma RGD PMID:3948765 RGD:2315537 NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929
JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma RGD PMID:19046237 RGD:2313747 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510
JBrowse link
G LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression,decreased activity:embryo RGD PMID:12716756 RGD:2315979 NCBI chr  X:51,925,654...51,926,724 JBrowse link
G PAPPA pappalysin 1 ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:serum RGD PMID:9512318 RGD:2313777 NCBI chr11:69,979,295...70,220,256
Ensembl chr11:69,982,268...70,219,550
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:20129688 RGD:7241238 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:decreased expression:plasma, placenta,embryo: RGD PMID:19048427 RGD:7483562 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
Pregnancy-associated Malaria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 ISO RGD PMID:24717969 RGD:11041890 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
Pregnancy-Induced Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO RGD PMID:17977916 RGD:8548898 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO RGD PMID:17977916 RGD:8548898 NCBI chr  X:11,798,839...11,839,591
Ensembl chr  X:11,798,839...11,900,594
JBrowse link
G AGT angiotensinogen ISO RGD PMID:17977916 RGD:8548898 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G EDN1 endothelin 1 no_association ISO DNA:transversion:exon:p.K198N rs5370 (human) RGD PMID:11593097 PMID:19730395 RGD:4145063 RGD:4145070 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:21383306 RGD:10755723 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertension, pregnancy-induced, susceptibility to
CTD
ClinVar
PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 More... NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G TFPI tissue factor pathway inhibitor ISO mRNA:decreased expression:aorta: RGD PMID:26104991 RGD:11062065 NCBI chr36:29,457,131...29,546,455
Ensembl chr36:29,459,371...29,511,310
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:18981324 RGD:13825265 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
Preimplantation Embryonic Lethality 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLE6 TLE family member 6, subcortical maternal complex member ISO OMIM NCBI chr20:56,159,045...56,169,740 JBrowse link
Preimplantation Embryonic Lethality 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PADI6 peptidyl arginine deiminase 6 ISO OMIM NCBI chr 2:80,888,961...80,907,780
Ensembl chr 2:80,888,961...80,907,780
JBrowse link
Premature Birth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26055944 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G 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
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26055944 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26055944 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G LOC479260 mannose-binding protein A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16912583 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G LTF lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr20:42,231,994...42,263,202
Ensembl chr20:42,231,994...42,263,202
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24429678 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29709520 NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264