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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 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G FAAH fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16886060 NCBI chr 6:165,060,279...165,079,340
Ensembl chr 6:165,060,287...165,079,769
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11932298 NCBI chr 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,672
JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19636672 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,686...217,002,148
JBrowse link
G KLRK1 killer cell lectin like receptor K1 treatment ISO associated with Animal Toxoplasmosis RGD PMID:28438315 RGD:39128164 NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,623,200...61,656,195
JBrowse link
G NCOA2 nuclear receptor coactivator 2 ISO mRNA:decreased expression:uterus (rat) RGD PMID:20660062 RGD:5688349 NCBI chr 4:64,888,029...65,245,757
Ensembl chr 4:64,954,120...65,246,572
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 7:64,508,119...64,510,754
Ensembl chr 7:64,508,016...64,558,057
JBrowse link
G SERPINE1 serpin family E member 1 ISO DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:10909993 RGD:13208506 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
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 chr 5:63,746,326...63,751,469
Ensembl chr 5:63,745,476...63,751,469
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 chr14:100,927,305...100,954,781 JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716473 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G PRL prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18926768 NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,741
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716473 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
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 chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:villous trophoblast RGD PMID:12700199 RGD:12904022 NCBI chr14:100,927,305...100,954,781 JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21493953 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression: cervicovaginal fluid :
protein:increased expression:plasma
associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:
RGD PMID:15547537 PMID:25011638 PMID:25687566 RGD:12791291 RGD:12792243 RGD:5128667 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G LTA lymphotoxin alpha severity ISO associated with Premature Birth;DNA:SNP:promoter:250G>A (human) RGD PMID:15128916 RGD:12904055 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,039...23,698,302
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:exon:p.G54D(human) RGD PMID:15723707 RGD:12910932 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:12712078 RGD:13204828 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G TGFB1 transforming growth factor beta 1 severity ISO protein:increased expression:amniotic fluid RGD PMID:19332995 RGD:4145137 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
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 chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
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 chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
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 chr14:112,808,215...112,814,225
Ensembl chr14:112,808,210...112,814,134
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 chr 2:1,469,183...1,496,417 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 chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,139
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 Ensembl chr 5:8,986,461...9,007,446 JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,754...151,192,647
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,816...12,242,637
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 chr12:42,793,755...42,808,937
Ensembl chr12:42,790,187...42,808,919
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 6:50,580,016...50,593,518
Ensembl chr 6:50,580,022...50,593,544
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO OMIM NCBI chr 6:914,480...967,113
Ensembl chr 6:915,365...967,106
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 chr 2:3,191,718...3,194,820
Ensembl chr 2:3,186,744...3,194,792
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 chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
ectopic pregnancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRISP3 cysteine-rich secretory protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19282327 NCBI chr 7:43,777,035...43,804,624
Ensembl chr 7:43,777,061...43,804,549
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 chr14:91,516,383...91,543,857
Ensembl chr14:91,516,429...91,552,766
JBrowse link
G GPX4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12566075 NCBI chr 2:77,321,568...77,323,931
Ensembl chr 2:77,320,464...77,323,886
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17008600 NCBI chr 2:5,209,435...5,227,543
Ensembl chr 2:5,209,436...5,227,748
JBrowse link
G IGF2 insulin like growth factor 2 ISO DNA:methylation: : RGD PMID:18778817 RGD:5509951 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IL18 interleukin 18 ISO RGD PMID:21920610 RGD:8655947 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G LCMT1 leucine carboxyl methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17724024 NCBI chr 3:21,548,349...21,593,667 JBrowse link
G LIF LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:23409146 NCBI chr14:47,221,540...47,239,513
Ensembl chr14:47,221,560...47,238,749
JBrowse link
G NLRP5 NLR family pyrin domain containing 5 ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality ClinVar NCBI chr 6:60,375,670...60,418,908
Ensembl chr 6:60,379,623...60,409,465
JBrowse link
G PARG poly(ADP-ribose) glycohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15591342 NCBI chr14:90,338,599...90,481,015
Ensembl chr14:90,338,503...90,480,986
JBrowse link
G SLC31A1 solute carrier family 31 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11391004 NCBI chr 1:253,868,389...253,893,135
Ensembl chr 1:253,868,331...253,894,451
JBrowse link
G UBE2N ubiquitin conjugating enzyme E2 N ISO CTD Direct Evidence: marker/mechanism CTD PMID:16738225 NCBI chr 5:89,673,306...89,716,345
Ensembl chr 5:89,673,573...89,714,281
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 7:103,768,260...103,925,777
Ensembl chr 7:103,768,296...103,925,922
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 chr14:60,412,651...60,415,687 JBrowse link
G ADSS1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:19,351,485...19,375,515
Ensembl chr 7:19,351,361...19,379,100
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 chr17:5,712,048...5,749,811
Ensembl chr17:5,712,056...5,758,830
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 chr14:74,975,163...75,109,283
Ensembl chr14:74,970,236...75,158,889
JBrowse link
G ASPM assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr10:19,971,516...20,039,680
Ensembl chr10:19,975,189...20,039,623
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:124,318,874...124,357,653
Ensembl chr  X:124,301,709...124,357,642
JBrowse link
G AVEN apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:80,447,337...80,640,120
Ensembl chr 7:80,447,723...80,640,120
JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr15:133,040,310...133,047,839
Ensembl chr15:133,040,340...133,058,544
JBrowse link
G CNTNAP1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr12:20,141,222...20,157,341
Ensembl chr12:20,141,641...20,157,044
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 8:2,089,645...2,119,076
Ensembl chr 8:2,089,670...2,122,685
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 chr 3:68,523,859...68,530,804
Ensembl chr 3:68,523,974...68,531,064
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
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:22,654,351...22,684,246
Ensembl chr 3:22,655,377...22,685,480
JBrowse link
G FBLN1 fibulin 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 5:3,839,498...3,927,178
Ensembl chr 5:3,839,501...3,927,183
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 chr13:173,634,401...173,909,646
Ensembl chr13:173,634,454...173,976,255
JBrowse link
G GCN1 GCN1 activator of EIF2AK4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr14:40,151,415...40,218,183
Ensembl chr14:40,146,345...40,218,097
JBrowse link
G GFRA4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr17:32,040,183...32,044,396 JBrowse link
G GLDN gliomedin ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:120,322,417...120,399,059
Ensembl chr 1:120,322,432...120,399,041
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 chr 5:67,445,839...67,540,488
Ensembl chr 5:67,445,836...67,540,486
JBrowse link
G KIAA1109 KIAA1109 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 8:101,737,084...101,937,212
Ensembl chr 8:101,737,086...101,937,156
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 6:44,655,621...44,663,874
Ensembl chr 6:44,655,617...44,663,234
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 chr 4:106,880,617...107,120,043
Ensembl chr 4:106,881,916...107,345,598
JBrowse link
G MUSK muscle associated receptor tyrosine kinase ISO OMIM NCBI chr 1:251,650,151...251,758,538
Ensembl chr 1:251,650,710...251,756,608
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 5:6,580,141...6,587,550
Ensembl chr 5:6,571,037...6,590,546
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 chr11:69,710,355...70,023,020
Ensembl chr11:69,710,364...70,022,727
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 6:97,644,115...97,945,693
Ensembl chr 6:97,643,366...97,944,418
JBrowse link
G PRG4 proteoglycan 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:127,463,875...127,481,770 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 chr 5:73,707,026...73,826,529
Ensembl chr 5:73,707,022...73,826,431
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 chr14:2,803,840...3,035,384
Ensembl chr14:2,804,061...3,035,241
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 6:47,339,759...47,458,457 JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,245...81,208,334
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 chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,584
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 chr13:23,336,143...23,424,755
Ensembl chr13:23,338,124...23,438,385
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 chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,564
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 1:94,295,332...94,666,560
Ensembl chr 1:94,295,637...94,663,029
JBrowse link
G SPAG16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr15:115,809,152...116,760,976
Ensembl chr15:115,809,180...116,760,790
JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 5:85,317,648...85,346,528
Ensembl chr 5:85,315,477...85,346,565
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 chr 3:55,667,821...55,676,995
Ensembl chr 3:55,667,821...55,676,978
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 6:72,256,865...72,514,256
Ensembl chr 6:72,256,877...72,510,907
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 chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655
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 8:2,089,645...2,119,076
Ensembl chr 8:2,089,670...2,122,685
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 chr12:51,562,455...51,603,095
Ensembl chr12:51,562,436...51,601,975
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 chr14:63,416,154...63,809,220 JBrowse link
G APOE apolipoprotein E ISO RGD PMID:15007105 RGD:12904641 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G BPIFA1 BPI fold containing family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15513904 NCBI chr17:36,754,498...36,761,622
Ensembl chr17:36,754,498...36,761,621
JBrowse link
G CAT catalase ISO CTD Direct Evidence: therapeutic CTD PMID:26074427 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:22037411 PMID:23763370 RGD:13210751 RGD:13432044 NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,526...58,927,583
JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA:decreased expression:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO protein:decreased activity:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G NOS1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25511929 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,972
JBrowse link
G PTEN phosphatase and tensin homolog ISO Protein:increased expression, increased activity:cerebellum (rat) RGD PMID:12700235 RGD:12801493 NCBI chr14:99,929,590...100,021,619 JBrowse link
G RPS6KA1 ribosomal protein S6 kinase A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29109170 NCBI chr 6:83,905,124...83,947,189
Ensembl chr 6:83,905,076...83,950,984
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 chr13:31,918,484...31,991,207
Ensembl chr13:31,918,836...32,003,722
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 (peptidyl-dipeptidase A) 1 ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:11085286 RGD:11038921 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ATR ATR serine/threonine kinase ISO RGD PMID:15282542 RGD:150340675 NCBI chr13:83,175,515...83,289,986
Ensembl chr13:83,174,824...83,289,923
JBrowse link
G CDK8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: Fetal death ClinVar PMID:25741868 NCBI chr11:4,054,442...4,161,501
Ensembl chr11:4,054,209...4,181,093
JBrowse link
G F5 coagulation factor V no_association ISO RGD PMID:14706682 RGD:1580130 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,232...81,485,055
JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6635991 NCBI chr 6:82,014,022...82,050,240
Ensembl chr 6:82,014,046...82,050,236
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:20393889 RGD:12910472 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,527
JBrowse link
G LPAR1 lysophosphatidic acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11087877 NCBI chr 1:251,811,583...251,979,828
Ensembl chr 1:251,811,584...251,979,159
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:5067144 NCBI chr17:32,605,586...32,606,449
Ensembl chr17:32,605,588...32,606,483
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11023856 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
G RDH10 retinol dehydrogenase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793605 NCBI chr 4:62,569,877...62,600,981
Ensembl chr 4:62,571,093...62,601,508
JBrowse link
G TFPI tissue factor pathway inhibitor ISO associated with Hemorrhage; RGD PMID:9242522 RGD:11060259 NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
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 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,149
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 chr14:111,316,178...111,351,669
Ensembl chr14:111,307,610...111,351,712
JBrowse link
G NOS2 nitric oxide synthase 2 ISO associated with Diabetes Mellitus, Experimental RGD PMID:19283362 RGD:2313217 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G PRKCB protein kinase C beta ISO associated with Diabetes Mellitus, Experimental;protein:increased expression RGD PMID:15496608 RGD:1625524 NCBI chr 3:21,995,227...22,383,628
Ensembl chr 3:21,995,231...22,383,264
JBrowse link
G PRSS8 serine protease 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22705055 NCBI chr 3:17,357,793...17,362,223
Ensembl chr 3:17,357,802...17,362,222
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 chr14:111,316,178...111,351,669
Ensembl chr14:111,307,610...111,351,712
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 chr 6:168,596,522...168,643,437
Ensembl chr 6:168,599,597...168,613,830
JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 7:38,511,521...38,531,938
Ensembl chr 7:38,507,073...38,537,943
JBrowse link
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 7:39,217,974...39,234,683
Ensembl chr 7:39,217,332...39,234,688
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, sub-family B (MDR/TAP), member 1 ISO mRNA:increased expression:placenta RGD PMID:16225763 RGD:2306659 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO mRNA:increased expression:kidney (rat) RGD PMID:24847689 RGD:12879387 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chr 5:68,755,789...68,807,247
Ensembl chr 5:68,755,811...68,807,235
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:kidney,urine:
RGD
CTD
PMID:17537837 PMID:20530295 PMID:26270574 RGD:11538508 RGD:13432363 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:21303825 RGD:5129179 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,131
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:21303825 RGD:5129179 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388
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 chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215
JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 ISO protein:increased expression:serum (human) RGD PMID:25724728 RGD:14696679
G APOE apolipoprotein E ISO mRNA:increased expression:adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G APOH apolipoprotein H ISO RGD PMID:24642748 RGD:10054118 NCBI chr12:12,827,195...12,839,172
Ensembl chr12:12,827,201...12,839,175
JBrowse link
G ARG1 arginase 1 ISO RNA:increased expression:thoracic aorta: RGD PMID:29741931 RGD:13792602 NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,038...32,028,986
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO protein:increased expression:retroperitoneal fat pad (rat) RGD PMID:26633942 RGD:13703049 NCBI chr 1:95,738,789...95,750,835
Ensembl chr 1:95,625,800...95,750,875
JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO protein:decreased expression:liver (rat) RGD PMID:26342040 RGD:13782135 NCBI chr 5:21,984,750...21,992,393
Ensembl chr 5:21,984,580...21,992,407
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,187,260...54,228,144
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:22710965 RGD:9068402 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO RGD PMID:3973436 RGD:2303532 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,495
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,749...45,763,773
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 chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
G COMT catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23667712 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,133...51,403,998
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO RGD PMID:3973436 RGD:2303532 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,209,999...113,339,078
JBrowse link
G CTH cystathionine gamma-lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,435,690...142,486,367
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 chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
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 chr 7:58,802,887...58,809,155
Ensembl chr 7:58,780,105...58,809,755
JBrowse link
G DES desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,103...121,435,424
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776119 NCBI chr 7:121,565,844...121,577,493
Ensembl chr 7:121,565,854...121,576,654
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 chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,564...69,029,919
JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,332,801...36,386,074
JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO RGD PMID:12487923 RGD:7771581 NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
JBrowse link
G DUSP5 dual specificity phosphatase 5 ISO RGD PMID:16940436 RGD:2317872 NCBI chr14:120,906,340...120,919,398
Ensembl chr14:120,906,343...120,919,395
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 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,039,950
JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO associated with Pre-Eclampsia;DNA:SNP:promoter:-670A>G (human)
associated with protein:increased expression:serum:
RGD PMID:15695771 PMID:16169656 RGD:12903973 RGD:12904025 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FASLG Fas ligand severity ISO associated with protein:increased expression:serum:
protein:increased expression:amniotic fluid:
RGD PMID:16169656 PMID:23582102 RGD:12903972 RGD:12904025 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO mRNA, protein:decreased expression:liver (rat)
mRNA:increased expression:liver
RGD PMID:15448092 PMID:23744881 RGD:14695550 RGD:2315963 NCBI chr12:19,965,885...19,975,783
Ensembl chr12:19,962,934...19,976,050
JBrowse link
G GHRL ghrelin and obestatin prepropeptide disease_progression ISO RGD PMID:20637157 RGD:12904883 NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,316,436...66,452,917
JBrowse link
G GHSR growth hormone secretagogue receptor disease_progression ISO RGD PMID:20637157 RGD:12904883 NCBI chr13:110,981,465...111,006,149
Ensembl chr13:110,981,604...111,107,423
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19500843 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
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 chr16:69,332,786...69,654,366
Ensembl chr16:69,332,585...69,655,380
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 3:32,749,329...33,149,350
Ensembl chr 3:32,752,351...33,143,499
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:20423831 RGD:13210763 NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,526...58,927,583
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO mRNA:decreased expression RGD PMID:11124150 RGD:1599884 NCBI chr 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,735
JBrowse link
G HDAC1 histone deacetylase 1 ISO mRNA:increased expression:adrenal gland:
protein:decreased expression, decreased activity:hippocampus:
RGD PMID:16380407 PMID:18464933 PMID:24717552 RGD:2311214 RGD:9588242 RGD:9590296 NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,412
JBrowse link
G HDAC2 histone deacetylase 2 ISO mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO DNA:altered methylation:prompter: RGD PMID:20126273 RGD:12904699 NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,503
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 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,672
JBrowse link
G IGF1 insulin like growth factor 1 onset
treatment
ISO mRNA:decreased expression:liver
protein:decreased expression:placenta labyrinth (rat)
human protein in a rat model
RGD PMID:9284279 PMID:15506645 PMID:19088829 PMID:24239160 RGD:12904720 RGD:12910460 RGD:1600258 RGD:2306715 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IGF1R insulin like growth factor 1 receptor onset ISO protein:increased expression:liver, lung (rat)
protein:decreased expression:placenta labyrinth (rat)
DNA:point mutation:exon:p.R108Q, p.K115N (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12536576 PMID:14657428 PMID:24239160 RGD:12904720 RGD:12904724 RGD:1624299 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
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 chr 2:1,469,183...1,496,417 JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO mRNA:increased expresssion:fetus: RGD PMID:1408464 RGD:14985247 NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 treatment ISO protein:increased expression:Amniotic fluid:
protein:decreased expression:serum:
mRNA:increased expression:placenta:
protein:increased expression:brain
DNA:hypermethylation:promoter:
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 chr18:50,002,921...50,009,425 JBrowse link
G IL1A interleukin 1 alpha ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IRS1 insulin receptor substrate 1 ISO mRNA,protein:decreased expression:growth plate: RGD PMID:22995397 RGD:8661261 NCBI chr15:128,245,846...128,307,321
Ensembl chr15:128,245,846...128,308,335
JBrowse link
G IRS2 insulin receptor substrate 2 ISO RGD PMID:20720385 RGD:7257699 NCBI chr11:76,626,158...76,654,639
Ensembl chr11:76,626,179...76,653,881
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G LEP leptin ISO RGD PMID:21353474 RGD:5128507 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
JBrowse link
G LOC100519098 sterile alpha motif domain-containing protein 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27182967 NCBI chr 9:72,965,088...72,999,261
Ensembl chr 9:72,963,815...72,999,258
JBrowse link
G MDM2 MDM2 proto-oncogene ISO mRNA:decreased expression:cerebrum (rat) RGD PMID:15563574 RGD:2317395 NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,086,994...33,178,089
JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO mRNA,protein:decreased expression:hippocampus: RGD PMID:16380407 RGD:9588242 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,789,110
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17367869 PMID:28157488 RGD:13204803 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:1958G>A(human)
DNA:SNP: :401A>G(human)
RGD PMID:18771981 PMID:22378735 PMID:25118499 RGD:12910955 RGD:12910958 RGD:12914148 NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,600
JBrowse link
G MUC1 mucin 1, cell surface associated ISO RGD PMID:19287349 RGD:7349369 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:19287349 RGD:7349369 NCBI chr 2:689,363...719,542 JBrowse link
G MUC4 mucin 4, cell surface associated ISO RGD PMID:19287349 RGD:7349369 NCBI chr13:134,192,412...134,248,435 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 chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
JBrowse link
G NOS1 nitric oxide synthase 1 ISO associated with hyperinsulinemia; protein:decreased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,972
JBrowse link
G NOS2 nitric oxide synthase 2 ISO associated with hyperinsulinemia; protein:increased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
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 chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
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 2:144,822,937...144,956,451
Ensembl chr 2:144,822,937...144,956,095
JBrowse link
G ORC1 origin recognition complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr 6:159,819,302...159,852,306
Ensembl chr 6:159,819,358...159,853,802
JBrowse link
G OTC ornithine transcarbamylase ISO mRNA:altered expression:liver (rat) RGD PMID:8929856 RGD:4144077 NCBI chr  X:34,322,398...34,391,711
Ensembl chr  X:34,322,298...34,391,837
JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO mRNA:decreased expression:liver: RGD PMID:12538794 RGD:10448276 NCBI chr17:57,930,507...57,936,523
Ensembl chr17:57,930,432...57,938,896
JBrowse link
G PDGFA platelet derived growth factor subunit A ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr 3:296,399...322,967
Ensembl chr 3:303,311...323,036
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 Ensembl chr 5:8,986,461...9,007,446 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 chr11:5,303,609...5,309,063
Ensembl chr11:5,303,639...5,310,843
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO mRNA:decreased expression:lung (rat) RGD PMID:21425435 RGD:8552971 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,655...68,433,947
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA, protein:increased expression:liver (rat) RGD PMID:18433551 RGD:10059649 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,961,909
JBrowse link
G PRDX6 peroxiredoxin 6 ISO protein:decreased expression:placenta RGD PMID:25171874 RGD:26884462 NCBI chr 9:115,857,629...115,868,898
Ensembl chr 9:115,857,644...115,868,892
JBrowse link
G PTGER3 prostaglandin E receptor 3 ISO mRNA, protein:increased expression:placenta (rat) RGD PMID:15990166 RGD:10043194 NCBI chr 6:141,958,955...142,160,437
Ensembl chr 6:141,958,954...142,161,292
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 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 treatment ISO with postnatal growth restriction RGD PMID:19491300 RGD:12743586 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
JBrowse link
G RBP1 retinol binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr13:80,380,958...80,407,328
Ensembl chr13:80,380,962...80,407,458
JBrowse link
G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17537837 NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,636
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 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO RGD PMID:18464933 RGD:2311214 NCBI chr 7:58,171,821...58,246,126
Ensembl chr 7:58,176,166...58,245,762
JBrowse link
G SLC2A2 solute carrier family 2 member 2 ISO mRNA, protein:decreased expression:liver RGD PMID:9886959 RGD:12879480 NCBI chr13:109,592,595...109,614,105
Ensembl chr13:109,587,256...109,623,787
JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO protein:increased expression:placenta RGD PMID:11738800 RGD:730192 NCBI chr 5:62,963,635...63,041,955 JBrowse link
G SLC38A2 solute carrier family 38 member 2 ISO mRNA, protein:decreased expression:placenta RGD PMID:21812961 RGD:9999212 NCBI chr 5:77,113,491...77,127,715
Ensembl chr 5:77,113,493...77,127,650
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21893188 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO RGD PMID:19017816 RGD:2308805 NCBI chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,265
JBrowse link
G STAR steroidogenic acute regulatory protein ISO mRNA:increased expression:adrenal gland, maternal (rat) RGD PMID:17881205 RGD:4832477 NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,347,864...48,385,464
JBrowse link
G TFF3 trefoil factor 3 ISO RGD PMID:19287349 RGD:7349369 NCBI chr13:205,641,038...205,644,333
Ensembl chr13:205,642,374...205,644,334
JBrowse link
G UNC13A unc-13 homolog A ISO RGD PMID:18787382 RGD:5686390 NCBI chr 2:60,057,926...60,130,015 JBrowse link
G VDR vitamin D receptor ISO mRNA,protein:decreased expression:placenta: RGD PMID:25716068 RGD:11058690 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,986,528...108,080,151
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 chr 4:68,481,696...68,486,122
Ensembl chr 4:68,483,977...68,486,118
JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 ISO protein:increased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,018...17,306,319
JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO protein:decreased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chr18:42,251,755...42,296,457
Ensembl chr18:42,251,749...42,295,468
JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:23427086 RGD:10395301 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:altered expression:heart (rat) RGD PMID:21856922 RGD:7207283 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO protein:increased expression:heart (rat) RGD PMID:21856922 RGD:7207283 NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,003...33,568,076
JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:17310378 RGD:1642145 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,972
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 chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,503
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr18:50,002,921...50,009,425 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 chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
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:38,930,452...39,006,220 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 chr12:12,827,195...12,839,172
Ensembl chr12:12,827,201...12,839,175
JBrowse link
G PRL prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:3816235 NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,741
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 chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,741
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 chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G AHSG alpha 2-HS glycoprotein ISO protein:increased expression:serum RGD PMID:12153747 RGD:2313814 NCBI chr13:124,426,313...124,438,848
Ensembl chr13:124,426,308...124,438,840
JBrowse link
G APOD apolipoprotein D ISO RGD PMID:6828336 RGD:2311180 NCBI chr13:132,514,546...132,562,594
Ensembl chr13:132,514,949...132,562,599
JBrowse link
G AR androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,805,578
JBrowse link
G BNIP3L BCL2 interacting protein 3 like ISO RGD PMID:26512955 RGD:11564338 NCBI chr14:10,318,688...10,345,689
Ensembl chr14:10,318,714...10,345,683
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO RGD PMID:18702087 RGD:2306986 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 ISO DNA:snp: :rs7756992,rs7754840(human) RGD PMID:19002430 RGD:2313946 NCBI chr 7:15,910,645...16,569,643
Ensembl chr 7:15,910,666...16,685,053
JBrowse link
G CYP19A3 cytochrome P450 19A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
JBrowse link
G DCN decorin ISO RGD PMID:16630654 RGD:2311413 NCBI chr 5:91,678,601...91,713,925
Ensembl chr 5:91,678,608...91,714,235
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G FOXM1 forkhead box M1 ISO RGD PMID:19833884 RGD:2315927 NCBI chr 5:67,246,219...67,263,215
Ensembl chr 5:67,245,694...67,263,211
Ensembl chr 5:67,245,694...67,263,211
JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO protein:increased activity:liver RGD PMID:12595588 RGD:2315965 NCBI chr12:19,965,885...19,975,783
Ensembl chr12:19,962,934...19,976,050
JBrowse link
G GAD2 glutamate decarboxylase 2 ISO RGD PMID:18588707 RGD:2313295 NCBI chr10:49,316,682...49,391,013
Ensembl chr10:49,313,641...49,390,926
JBrowse link
G GPX1 glutathione peroxidase 1 ISO RGD PMID:22342560 RGD:11353780 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,914,932...31,917,335
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 chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328
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 chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:22241286 RGD:10046048 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G IL10 interleukin 10 ISO protein:decreased expression:serum RGD PMID:18446686 RGD:2308947 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:extracellular space (human) RGD PMID:19408175 RGD:2307186 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G INHBA inhibin subunit beta A ISO protein:decreased expression:serum
protein:increased expression:serum
RGD PMID:7852520 PMID:14663836 RGD:2313385 RGD:2313391 NCBI chr12:53,115,379...53,117,128
NCBI chr18:52,889,684...52,909,260
Ensembl chr18:52,889,684...52,900,967
JBrowse link
G INS insulin ISO protein:increased expression:serum RGD PMID:19269197 RGD:2311131 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
JBrowse link
G INSR insulin receptor ISO mRNA, protein:increased expression:placenta (human) RGD PMID:19179458 PMID:22241286 RGD:10046048 RGD:2307336 NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,139
JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD
RGD
PMID:19269197 PMID:20421132 RGD:2311131 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,798,979...146,896,108
JBrowse link
G MBL2 mannose binding lectin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15472209 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G MEN1 menin 1 ISO RGD PMID:17975067 RGD:2317319 NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,357,951...7,365,128
JBrowse link
G MIR133A-2 microRNA mir-133a-2 ISO RGD PMID:26512955 RGD:11564338 NCBI chr 6:106,998,899...106,998,971
Ensembl chr 6:106,998,896...106,998,982
JBrowse link
G PLAT plasminogen activator, tissue type ISO RGD PMID:17259140 RGD:2311668 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
JBrowse link
G RETN resistin ISO protein:increased expression:serum RGD PMID:19408175 RGD:2307186 NCBI chr 2:71,484,164...71,485,577
Ensembl chr 2:71,484,169...71,485,616
JBrowse link
G SIRT3 sirtuin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23956348 NCBI chr 2:38,465...55,074
Ensembl chr 2:38,470...55,101
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23956348 PMID:30738174 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G SRRM1 serine and arginine repetitive matrix 1 ISO protein:increased glycation:placenta (human) RGD PMID:24308201 RGD:11038724 NCBI chr 6:82,309,192...82,348,076
Ensembl chr 6:82,242,953...82,343,786
JBrowse link
G TCF7L2 transcription factor 7 like 2 susceptibility ISO DNA:SNP (human) RGD PMID:18984664 RGD:2312455 NCBI chr14:123,343,695...123,547,332
Ensembl chr14:123,343,694...123,546,417
JBrowse link
G UTS2 urotensin 2 susceptibility ISO DNA:polymorphism RGD PMID:17327028 RGD:2306802 NCBI chr 6:68,552,889...68,560,827
Ensembl chr 6:68,552,887...68,559,687
JBrowse link
gestational trophoblastic neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POU5F1 POU class 5 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18440631 NCBI chr 7:23,564,654...23,570,691 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 chr15:120,707,770...120,711,794
Ensembl chr15:120,707,814...120,711,793
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 chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759
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 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G CBX3 chromobox 3 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr18:46,193,138...46,205,114
Ensembl chr18:46,193,138...46,204,714
JBrowse link
G CCDC68 coiled-coil domain containing 68 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 1:104,424,413...104,474,581
Ensembl chr 1:104,424,001...104,474,489
JBrowse link
G CENPH centromere protein H ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr16:47,353,319...47,378,746
Ensembl chr16:47,353,324...47,378,745
JBrowse link
G CREB5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30100398 NCBI chr18:43,840,553...44,264,514
Ensembl chr18:43,844,898...44,261,294
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 4:81,403,273...81,484,908
Ensembl chr 4:81,403,232...81,485,055
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 chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111
JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNPs: :677C>T, 1298A>C (human)
DNA:SNP: :1298A>C (human)
RGD PMID:19906129 PMID:22047507 PMID:22882325 RGD:10449404 RGD:10449411 RGD:10449415 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G PIF1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 1:107,218,580...107,227,171
Ensembl chr 1:107,218,657...107,227,171
JBrowse link
G PLK1 polo like kinase 1 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 3:22,537,814...22,550,901
Ensembl chr 3:22,537,816...22,555,023
JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 1:273,011,736...273,021,956
Ensembl chr 1:273,011,733...273,021,940
JBrowse link
G SYCP3 synaptonemal complex protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19110213 NCBI chr 5:82,492,744...82,501,068
Ensembl chr 5:82,493,142...82,501,225
JBrowse link
G THBD thrombomodulin susceptibility ISO DNA:SNP: :1418C>T (human) RGD PMID:23954867 RGD:11038683 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
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 1:273,022,014...273,066,916
Ensembl chr 1:273,022,000...273,056,039
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:blood platelet (human) RGD PMID:23241952 RGD:11522719 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:9158311 RGD:1580990 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
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 chr14:100,927,305...100,954,781 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 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
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 chr 4:106,656,632...106,668,252
Ensembl chr 4:106,656,717...106,683,099
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 chr 4:106,646,591...106,656,490
Ensembl chr 4:106,646,010...106,656,452
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:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,529
JBrowse link
G SYT6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 4:106,420,614...106,485,468
Ensembl chr 4:106,425,692...106,486,931
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785587 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
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 chr 1:55,552,675...55,569,057
Ensembl chr 1:55,551,320...55,568,991
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 chr 1:52,996,706...52,999,074 JBrowse link
G MLH1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,201...21,877,757
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MSH2 mutS homolog 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,628
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,655...59,099,992
JBrowse link
G NLRP7 NLR family pyrin domain containing 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydatidiform mole
CTD
ClinVar
PMID:24033266 PMID:25741868 NCBI chr 6:59,112,811...59,150,916 JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,754...151,192,647
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 chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,628
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 6:59,092,258...59,099,992
Ensembl chr 6:59,092,655...59,099,992
JBrowse link
G NLRP7 NLR family pyrin domain containing 7 ISO OMIM NCBI chr 6:59,112,811...59,150,916 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 chr 1:52,996,706...52,999,074 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 chr 5:6,785,957...6,870,599
Ensembl chr 5:6,800,959...6,870,837
JBrowse link
Hydatidiform Mole, Recurrent, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2H11orf80 chromosome 2 C11orf80 homolog ISO OMIM NCBI chr 2:5,593,245...5,699,263
Ensembl chr 2:5,593,245...5,697,799
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 chr14:60,412,651...60,415,687 JBrowse link
G ALB albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,365...84,123,384
JBrowse link
G C9H1orf105 chromosome 9 C1orf105 homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 9:114,828,414...114,850,267
Ensembl chr 9:114,814,229...114,851,788
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr 1:161,320,627...161,556,539
Ensembl chr 1:161,321,273...161,556,537
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr15:80,673,072...80,692,256
Ensembl chr15:80,673,033...80,692,208
JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr17:48,082,480...48,089,971
Ensembl chr17:48,082,458...48,089,971
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 6:157,483,794...157,519,060
Ensembl chr 6:157,483,783...157,579,161
JBrowse link
G DNAH14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr10:13,048,002...13,389,497 JBrowse link
G DNAH9 dynein axonemal heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr12:56,045,079...56,366,327
Ensembl chr12:56,045,140...56,358,236
JBrowse link
G FOXC2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 6:2,552,141...2,555,041
Ensembl chr 6:2,552,862...2,554,367
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:43,303,777...43,328,164
Ensembl chr  X:43,303,782...43,328,735
JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 4:33,811,159...33,844,556
Ensembl chr 4:33,809,804...33,844,658
JBrowse link
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:108,223,315...108,439,602
Ensembl chr 3:108,223,995...108,620,615
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 3:16,672,071...16,686,520
Ensembl chr 3:16,671,420...16,689,231
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 chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hydrops fetalis, non-immune ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
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 chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
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 chr14:50,576,413...50,590,397
Ensembl chr14:50,569,746...50,589,787
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chr 6:103,451,206...103,593,093
Ensembl chr 6:103,451,343...103,597,324
JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:9,761,230...9,795,873 JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:26036949 PMID:26841830 PMID:28492532 NCBI chr15:546,187...766,131
Ensembl chr15:546,233...766,131
JBrowse link
G NEU1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr 7:23,953,721...23,958,659
Ensembl chr 7:23,947,061...23,958,666
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 2:80,649,882...80,810,934
Ensembl chr 2:80,654,378...80,809,059
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 6:914,480...967,113
Ensembl chr 6:915,365...967,106
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 9:114,824,795...114,827,731
Ensembl chr 9:114,824,800...114,827,404
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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
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 4:94,117,721...94,127,882
Ensembl chr 4:94,098,275...94,127,384
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 chr 3:125,353,063...125,493,368
Ensembl chr 3:125,353,119...125,491,963
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 6:47,339,759...47,458,457 JBrowse link
G SFTPA1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,107,675
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 chr14:121,347,938...121,444,144
Ensembl chr14:121,349,057...121,444,136
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 chr 9:107,480,629...107,518,771
Ensembl chr 9:107,480,641...107,518,728
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,667,640...15,697,872
JBrowse link
G UBN1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:37,512,306...37,555,255
Ensembl chr 3:37,512,314...37,555,185
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 chr13:28,524,778...28,692,327
Ensembl chr13:28,524,813...28,692,327
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 chr 2:2,019,391...2,022,092
Ensembl chr 2:2,019,490...2,021,853
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 chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547
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 chr 9:93,171,371...93,262,124 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 1:162,936,209...163,063,040
Ensembl chr 1:162,933,131...163,063,032
JBrowse link
G HDAC3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,191...143,287,387
JBrowse link
G IL18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
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 1:162,936,209...163,063,040
Ensembl chr 1:162,933,131...163,063,032
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 chr15:75,402,296...75,487,092
Ensembl chr15:75,400,766...75,486,403
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO OMIM NCBI chr 9:93,171,371...93,262,124 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 6:79,849,691...79,958,283
Ensembl chr 6:79,849,687...79,958,271
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 6:79,837,734...79,850,311
Ensembl chr 6:79,838,616...79,849,661
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 3:8,671,052...8,689,778
Ensembl chr 3:8,668,858...8,689,766
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 chr15:92,233,264...92,332,459
Ensembl chr15:92,233,269...92,332,385
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 chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO associated with HIV Infections RGD PMID:16250882 RGD:5683897 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,885...39,557,358
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16041010 NCBI chr15:120,219,657...120,230,203 JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:mammary gland: RGD PMID:21691936 RGD:7777124 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TLR9 toll like receptor 9 resistance ISO mRNA:increased expression:mammary gland (rat) RGD PMID:17321466 RGD:5130197 NCBI chr13:34,353,444...34,370,990 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 chr 5:81,385,401...81,460,569
Ensembl chr 5:81,236,096...81,463,452
JBrowse link
G PSPH phosphoserine phosphatase ISO RGD PMID:7201630 RGD:2308873 NCBI chr 3:16,877,904...16,903,062
Ensembl chr 3:16,877,923...16,907,952
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 chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AGTR2 angiotensin II receptor type 2 treatment ISO RGD PMID:14605247 RGD:11039054 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388
JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 ISO protein:increased expression:broncho-alveolar lavage fluid, meconium: RGD PMID:21567110 RGD:5144123 NCBI chr 2:9,297,282...9,302,204
Ensembl chr 2:9,297,283...9,302,165
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 chr 3:69,097,366...69,121,542
Ensembl chr 3:69,096,782...69,121,349
JBrowse link
G FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: Fetal megacystis ClinVar PMID:25741868 NCBI chr 6:2,579,348...2,598,122
Ensembl chr 6:2,592,993...2,597,659
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
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 chr15:29,782,613...30,042,727
Ensembl chr15:29,782,604...30,042,734
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
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 chr15:80,673,072...80,692,256
Ensembl chr15:80,673,033...80,692,208
JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit ISO OMIM NCBI chr15:133,040,310...133,047,839
Ensembl chr15:133,040,340...133,058,544
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit ISO OMIM NCBI chr15:133,051,668...133,059,935
Ensembl chr15:133,040,340...133,058,544
JBrowse link
G LOC110261337 tigger transposable element-derived protein 1-like ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:63,122,856...63,151,009 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 chr15:133,033,848...133,039,583
Ensembl chr15:133,034,454...133,039,367
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 chr14:80,410,143...80,471,740
Ensembl chr14:80,410,147...80,471,700
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 chr 4:101,445,977...101,478,144
Ensembl chr 4:101,408,308...101,478,144
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:231,142,673...231,172,364
Ensembl chr 1:231,142,625...231,172,363
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 chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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 chr14:50,576,413...50,590,397
Ensembl chr14:50,569,746...50,589,787
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
G PDGFA platelet derived growth factor subunit A ISO mRNA, protein:increased expression:lung RGD PMID:17519529 RGD:2292203 NCBI chr 3:296,399...322,967
Ensembl chr 3:303,311...323,036
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA, protein:increased expression:lung RGD PMID:17519529 RGD:2292203 Ensembl chr 5:8,986,461...9,007,446 JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO mRNA:increased expression:lung RGD PMID:17519529 RGD:2292203 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:lung RGD PMID:17519529 RGD:2292203 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,754...151,192,647
JBrowse link
G PDPN podoplanin ISO mRNA, protein:decreased expression:lung RGD PMID:11839536 RGD:2292243 NCBI chr 6:73,019,063...73,050,000
Ensembl chr 6:73,019,057...73,049,998
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 chr 7:45,447,354...45,925,141
Ensembl chr 7:45,447,357...45,925,113
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 chr 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121
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 chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr 3:159,107...200,462
Ensembl chr 3:163,419...200,460
JBrowse link
G FANCD2 FA complementation group D2 ISO RGD PMID:12893777 RGD:11344906 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,673...66,310,436
JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,152,127...131,370,466
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28242822 NCBI chr14:79,345,382...80,106,337
Ensembl chr14:79,352,396...80,106,258
JBrowse link
G LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25741868 NCBI chr 1:271,004,423...271,071,223
Ensembl chr 1:271,004,433...271,071,227
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 chr13:26,503,610...26,526,185
Ensembl chr13:26,523,983...26,526,133
JBrowse link
G SPDL1 spindle apparatus coiled-coil protein 1 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 NCBI chr16:54,276,943...54,303,465
Ensembl chr16:54,254,227...54,303,544
JBrowse link
G WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25558065 PMID:25741868 PMID:28556411 NCBI chr12:47,921,818...47,933,782
Ensembl chr12:47,922,002...47,933,780
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 chr11:45,046,040...45,075,973
Ensembl chr11:45,044,508...45,075,910
JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 ISO OMIM NCBI chr15:132,540,784...132,902,943
Ensembl chr15:132,540,558...132,959,793
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 chr10:51,817,697...51,820,147
Ensembl chr10:51,818,388...51,819,761
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 chr 2:1,469,183...1,496,417 JBrowse link
G PRSS8 serine protease 8 ISO CTD Direct Evidence: therapeutic CTD PMID:24722141 NCBI chr 3:17,357,793...17,362,223
Ensembl chr 3:17,357,802...17,362,222
JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24722141 NCBI chr 6:47,181,772...47,210,564
Ensembl chr 6:47,181,768...47,210,561
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16007645 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
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 2:87,911,093...87,935,252
Ensembl chr 2:87,866,607...87,935,253
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15633187 NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,600
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11354626 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa susceptibility ISO RGD PMID:9855597 RGD:11564329 NCBI chr15:25,043,543...25,054,310
Ensembl chr15:25,032,622...25,056,595
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 chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,131
JBrowse link
G CYP19A2 cytochrome P450 19A2 ISO mRNA, protein:altered expression:hippocampus (rat) RGD PMID:20662593 RGD:4890445 NCBI chr 1:120,652,172...120,695,899
Ensembl chr 1:120,367,667...120,695,899
JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:20809703 RGD:10400897 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G GJB3 gap junction protein beta 3 ISO RGD PMID:11237463 RGD:12436730 NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,543
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO mRNA, protein:altered expression:hippocampus (rat) RGD PMID:19144756 RGD:2326049
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO protein:decreased expression:hippocampus (rat) RGD PMID:19144756 RGD:2326049 NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,752,351...33,143,499
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO protein:increased expression:hippocampus (rat) RGD PMID:19144756 RGD:2326049 NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,526...58,927,583
JBrowse link
G ITGA2 integrin subunit alpha 2 ISO mRNA:decreased expression:placenta (rat) RGD PMID:20621762 RGD:5147460 NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103
JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 ISO mRNA:increased expression:placenta (rat) RGD PMID:17893880 RGD:2311215 NCBI chr11:5,303,609...5,309,063
Ensembl chr11:5,303,639...5,310,843
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA, protein:decreased expression:gastrocnemius muscle (rat) RGD PMID:18319353 RGD:10059693 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,961,909
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:plasma: RGD PMID:26903689 RGD:11557202 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
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 chr 1:120,322,417...120,399,059
Ensembl chr 1:120,322,432...120,399,041
JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9349812 NCBI chr 2:1,469,183...1,496,417 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 chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111
JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase ISO associated with Diabetes Mellitus RGD PMID:1789335 RGD:2311543 NCBI chr 2:103,568,366...103,659,589
Ensembl chr 2:103,567,601...103,661,079
JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 NCBI chr  X:122,286,904...122,379,302
Ensembl chr  X:122,286,916...122,379,299
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 6:914,480...967,113
Ensembl chr 6:915,365...967,106
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 chr 9:107,480,629...107,518,771
Ensembl chr 9:107,480,641...107,518,728
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 chr12:15,191,793...15,222,709
Ensembl chr12:15,191,782...15,227,697
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 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
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 (peptidyl-dipeptidase A) 1 onset ISO CTD Direct Evidence: marker/mechanism
DNA:insertion/deletion:intron 16:
CTD
RGD
PMID:17114810 PMID:20044877 RGD:40400703 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ADD1 adducin 1 ISO mRNA:increased expression:blood RGD PMID:19731222 RGD:5147993 NCBI chr 8:1,627,146...1,710,653
Ensembl chr 8:1,627,177...1,710,661
JBrowse link
G AGT angiotensinogen ISO ClinVar Annotator: match by term: Preeclampsia, susceptibility to
DNA:polymorphism: :p.M235T (human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:7649545 PMID:7883995 PMID:8348146 PMID:8513325 PMID:8518804 More... RGD:1300394 RGD:13432363 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AKR1C3 aldo-keto reductase family 1 member C3 treatment ISO mRNA:decreased expression:blood: RGD PMID:19681734 PMID:25876805 RGD:10053633 RGD:11541124 NCBI chr10:65,650,223...65,679,878
Ensembl chr10:65,576,464...65,678,248
JBrowse link
G ALB albumin severity ISO RGD PMID:21923989 RGD:11035264 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G ANXA5 annexin A5 ISO CTD Direct Evidence: therapeutic CTD PMID:19837457 NCBI chr 8:102,387,833...102,420,868
Ensembl chr 8:102,388,103...102,425,750
JBrowse link
G ARHGAP45 Rho GTPase activating protein 45 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26095815 NCBI chr 2:77,342,153...77,355,894
Ensembl chr 2:77,342,153...77,356,728
JBrowse link
G C3 complement C3 treatment ISO RGD PMID:23685261 RGD:7411624 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:serum (rat) RGD PMID:19617880 RGD:2317272 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CCN3 cellular communication network factor 3 ISO protein:decreased expression:placenta (human) RGD PMID:16675545 RGD:1580971 NCBI chr 4:19,505,698...19,514,481
Ensembl chr 4:19,505,700...19,514,797
JBrowse link
G CD274 CD274 molecule treatment ISO RGD PMID:27277012 RGD:40886269 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,047...216,792,724
JBrowse link
G CD40 CD40 molecule ISO protein:increased expression:blood, monocyte (human) RGD PMID:19221099 RGD:11520792 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CD46 CD46 molecule, complement regulatory protein susceptibility
no_association
ISO DNA:missense mutation:cds:p.A304V (human) RGD PMID:21445332 PMID:25710174 RGD:11352807 RGD:6483459 NCBI chr 9:135,025,439...135,078,910 JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:umbilical cord, serum (human) RGD PMID:18054022 RGD:4892664 NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,510
JBrowse link
G CLU clusterin ISO DNA:SNP:exon:866C>T (human) RGD PMID:15925890 RGD:1581195 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G CORIN corin, serine peptidase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:37,530,812...37,811,226
Ensembl chr 8:37,530,815...37,809,761
JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18679377 NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,685...89,463,538
JBrowse link
G CST3 cystatin C ISO protein:increased expression:plasma (human) RGD PMID:18197549 RGD:2314350 NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 ISO DNA:missense mutation:cds:p.V386A (human) RGD PMID:15569322 RGD:1576428 NCBI chr 4:1,365,725...1,373,138 JBrowse link
G DDAH2 dimethylarginine dimethylaminohydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22285683 NCBI chr 7:23,838,993...23,842,514
Ensembl chr 7:23,838,993...23,842,516
JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 ISO protein:increased expression:decidua RGD PMID:17845206 RGD:2289846 NCBI chr 4:27,986,270...28,013,970
Ensembl chr 4:27,986,865...28,013,949
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25230003 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G EDN2 endothelin 2 ISO RGD PMID:9015697 RGD:1580919 NCBI chr 6:169,751,956...169,758,011
Ensembl chr 6:169,752,026...169,758,583
JBrowse link
G ENG endoglin treatment
severity
ISO protein:increased expression:serum (human)
protein:increased expression:plasma (mouse)
protein:increased expression:serum (rat)
RGD PMID:20351341 PMID:22308016 PMID:22763474 PMID:23357179 PMID:23460287 RGD:7248767 RGD:7248768 RGD:7248777 RGD:7257524 RGD:7257530 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827
JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO protein:decreased expression:abdominal fascia: RGD PMID:17469012 RGD:9685457 NCBI chr14:107,263,546...107,390,923
Ensembl chr14:107,263,449...107,506,052
JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO RGD PMID:11159352 RGD:1580974 NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,815...94,254,079
JBrowse link
G EPHX1 epoxide hydrolase 1 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism
CTD
RGD
PMID:11283205 PMID:12173035 RGD:1601064 NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,735,170...13,773,071
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:9158311 RGD:1580990 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:15894829 RGD:1581016 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,722,164...193,906,565
JBrowse link
G F2 coagulation factor II, thrombin severity ISO DNA:polymorphism: :20210G>A(human) RGD PMID:16246971 RGD:6893628 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G F2R coagulation factor II thrombin receptor ISO RGD PMID:12161502 RGD:1581033 NCBI chr 2:85,642,794...85,659,133
Ensembl chr 2:85,641,474...85,656,636
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 4:122,827,018...122,837,673
Ensembl chr 4:122,826,992...122,837,672
JBrowse link
G F5 coagulation factor V severity ISO DNA:mutation: :1691G>A(human) RGD PMID:16246971 RGD:6893628 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,232...81,485,055
JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO DNA:SNP:promoter:-670A>G (human)
DNA:SNP:promoter:-670A>G(rs1800682)(human)
RGD PMID:15695771 PMID:30066360 RGD:12903973 RGD:14700669 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FASLG Fas ligand susceptibility ISO DNA:SNP:intron:124A>G(rs5030772)(human) RGD PMID:30066360 RGD:14700669 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
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 chr11:5,620,698...5,797,095
Ensembl chr11:5,620,700...5,795,264
JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197494
G HP haptoglobin severity ISO protein:increased expression
DNA:polymorphism
RGD PMID:16879055 PMID:17220952 RGD:1626337 RGD:1626343 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment ISO RGD PMID:21830843 RGD:8547718 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased expression:serum (human) RGD PMID:21126355 RGD:6906962
G INHBA inhibin subunit beta A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17332518 NCBI chr12:53,115,379...53,117,128
NCBI chr18:52,889,684...52,909,260
Ensembl chr18:52,889,684...52,900,967
JBrowse link
G ITGA4 integrin subunit alpha 4 ISO protein:increased expression:blood, granulocyte (rat) RGD PMID:10694336 RGD:9698441 NCBI chr15:86,942,054...87,028,428
Ensembl chr15:86,947,021...87,029,777
JBrowse link
G KISS1 KiSS-1 metastasis suppressor ISO mRNA:decreased expression:whole blood RGD PMID:16952198 RGD:2292128 NCBI chr 9:64,834,822...64,841,071
Ensembl chr 9:64,834,820...64,853,610
JBrowse link
G LCN2 lipocalin 2 ISO protein:increased expression:serum,urine RGD PMID:23957217 RGD:126781721 NCBI chr 1:268,609,975...268,614,651 JBrowse link
G LEP leptin ISO protein:decreased expression:plasma RGD PMID:16021089 RGD:5128718 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,447
JBrowse link
G LEPR leptin receptor ISO protein:increased expression:placenta RGD PMID:16021089 RGD:5128718 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,798,979...146,896,108
JBrowse link
G LOC100739508 glutathione S-transferase P-like susceptibility ISO DNA:missense mutation:cds:p.I105V (human) RGD PMID:11826024 RGD:737707 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LOC110261221 cytochrome P450 2J2-like ISO mRNA:increased expression:placenta, decidua RGD PMID:23155181 RGD:7243127 NCBI chr 6:152,321,816...152,358,179
Ensembl chr 6:152,321,848...152,648,979
JBrowse link
G MIR152 microRNA mir-152 ISO miRNA:increased expression:placenta RGD PMID:31114978 RGD:21066344 NCBI chr12:24,292,249...24,292,328
Ensembl chr12:24,292,251...24,292,336
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO mRNA, protein:decreased expression:placenta RGD PMID:17083831 RGD:2290399 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA, protein:decreased expression:placenta RGD PMID:17083831 PMID:23776237 RGD:13204787 RGD:2290399 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29250138 RGD:13504712 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
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 2:80,649,882...80,810,934
Ensembl chr 2:80,654,378...80,809,059
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO protein:increased expression:Treg cell RGD PMID:27277012 RGD:40886269 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,210...140,347,478
JBrowse link
G PDE5A phosphodiesterase 5A ISO RGD PMID:18538317 RGD:2314465 NCBI chr 8:104,270,858...104,420,955
Ensembl chr 8:104,270,881...104,420,947
JBrowse link
G PGF placental growth factor ISO RGD PMID:20720407 PMID:21756887 RGD:6483577 RGD:6483779 NCBI chr 7:98,149,510...98,162,784 JBrowse link
G PLAUR plasminogen activator, urokinase receptor ISO protein:increased expression:plasma RGD PMID:21722073 RGD:6484119 NCBI chr 6:50,489,773...50,505,453
Ensembl chr 6:50,489,777...50,505,418
JBrowse link
G PML PML nuclear body scaffold ISO mRNA:decreased expression:placenta (human) RGD PMID:20228380 RGD:41404689 NCBI chr 7:59,405,044...59,450,155
Ensembl chr 7:59,405,048...59,450,150
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO RGD PMID:15562025 RGD:1580687 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,655...68,433,947
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:9065198 RGD:11564336 NCBI chr15:25,043,543...25,054,310
Ensembl chr15:25,032,622...25,056,595
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16555725 NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612
JBrowse link
G SERPINA1 serpin family A member 1 ISO RGD PMID:1852102 RGD:1643155 NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,604,285...115,614,633
JBrowse link
G SERPINE1 serpin family E member 1 ISO mRNA:increased expression:blood:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16952198 PMID:18679377 RGD:2292128 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SERPINF2 serpin family F member 2 ISO protein:increased expression:urine RGD PMID:1334334 RGD:1625535 NCBI chr12:47,934,551...47,942,283
Ensembl chr12:47,933,864...47,942,287
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 chr14:71,927,387...71,985,239
Ensembl chr14:71,928,399...71,985,233
JBrowse link
G TFPI tissue factor pathway inhibitor ISO protein:increased expression:plasma: RGD PMID:10078579 RGD:11060132 NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO mRNA, protein:increased expression:placenta RGD PMID:17083831 RGD:2290399 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,297
JBrowse link
G TLR3 toll like receptor 3 ISO protein:increased expression:placenta (rat) RGD PMID:19779466 RGD:5128769 NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,966,040...47,058,734
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:16157088 RGD:1580682 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:15901845 RGD:1580314 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO human protein in rat model RGD PMID:21505354 RGD:5131211 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,149
JBrowse link
G UTS2 urotensin 2 ISO RGD PMID:15866083 RGD:1580806 NCBI chr 6:68,552,889...68,560,827
Ensembl chr 6:68,552,887...68,559,687
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:16517614 RGD:1580566 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
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 chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
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 chr14:71,927,387...71,985,239
Ensembl chr14:71,928,399...71,985,233
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 chr 8:37,530,812...37,811,226
Ensembl chr 8:37,530,815...37,809,761
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 chr12:14,667,643...14,723,296
Ensembl chr12:14,582,481...14,723,336
JBrowse link
G REN renin ISO protein:increased activity:blood plasma (human) RGD PMID:683663 RGD:125097480 NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,636
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 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
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 chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041
JBrowse link
G APOH apolipoprotein H ISO RGD PMID:11795690 RGD:2313988 NCBI chr12:12,827,195...12,839,172
Ensembl chr12:12,827,201...12,839,175
JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO mRNA:increased expression:embryo: RGD PMID:18323671 RGD:9586066 NCBI chr  X:125,383,392...125,439,082
Ensembl chr  X:125,383,414...125,439,082
JBrowse link
G ENG endoglin ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression: serum RGD PMID:18985316 RGD:2313806 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827
JBrowse link
G FGF2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:14706681 RGD:2315876 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression,decreased activity:embryo RGD PMID:12716756 RGD:2315979 NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,680...64,133,991
JBrowse link
G GC GC vitamin D binding protein ISO protein:decreased expression:plasma RGD PMID:3948765 RGD:2315537 NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,301...68,360,262
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 chr13:66,442,106...66,453,576
Ensembl chr13:66,316,436...66,452,917
JBrowse link
G PAPPA pappalysin 1 ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:serum RGD PMID:9512318 RGD:2313777 NCBI chr 1:256,544,496...256,784,813
Ensembl chr 1:256,544,928...256,780,779
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO RGD PMID:20129688 RGD:7241238 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,908...117,511,226
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:decreased expression:plasma, placenta,embryo: RGD PMID:19048427 RGD:7483562 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
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 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
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 (peptidyl-dipeptidase A) 1 ISO RGD PMID:17977916 RGD:8548898 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO RGD PMID:17977916 RGD:8548898 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,099,853...12,151,275
JBrowse link
G AGT angiotensinogen ISO RGD PMID:17977916 RGD:8548898 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
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 chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:21383306 RGD:10755723
G HP haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 6:14,980,382...14,985,245 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 chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G TFPI tissue factor pathway inhibitor ISO mRNA:decreased expression:aorta: RGD PMID:26104991 RGD:11062065 NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:18981324 RGD:13825265 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
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 chr 2:75,537,641...75,550,676 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 6:75,969,855...75,987,097
Ensembl chr 6:75,969,925...75,987,095
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 chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26055944 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25230003 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26055944 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26055944 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G LTF lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,737
JBrowse link
G MBL2 mannose binding lectin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16912583 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24429678 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:25741868 PMID:28492532 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29709520 NCBI chr13:66,038,669...66,045,478 JBrowse link
G PGF placental growth factor ISO RGD PMID:20822327 RGD:6483609 NCBI chr 7:98,149,510...98,162,784 JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26055944 PMID:27748297 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26055944 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27748297 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G VARS1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:25741868 PMID:30275004 NCBI chr 7:23,886,132...23,899,265
Ensembl chr 7:23,853,717...23,899,445
JBrowse link
Premature Obstetric Labor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18606702 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G GJB2 gap junction protein beta 2 ISO RGD PMID:8612484 RGD:11568660 NCBI chr11:774,090...781,252 JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20610570 PMID:22122352 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
Prenatal Exposure Delayed Effects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM10 ADAM metallopeptidase domain 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32715474 NCBI chr 1:113,289,480...113,407,940
Ensembl chr 1:113,289,197...113,413,569