Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   pregnancy disorder
 primary_id: MESH:D011248
 xref: EFO:0009682



show annotations for term's descendants           Sort by:
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 6:165,060,285...165,079,767
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...28,089,671
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 1:216,848,689...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 5:61,647,043...61,656,192
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 4:64,954,238...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 7:64,507,822...64,511,277
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...8,871,547
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 ClinVar Annotator: match by term: Bowen-Conradi syndrome OMIM
ClinVar
PMID:19463982 PMID:25741868 PMID:28492532 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
Ensembl chr14:100,927,089...100,956,716
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 9:91,506,421...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...17,463,710
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 7:23,699,628...23,702,416
JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7 OMIM
ClinVar
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 More... NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783
JBrowse link
G MDFIC MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY ClinVar PMID:25741868 PMID:35235341 NCBI chr18:31,026,048...31,125,664
Ensembl chr18:31,027,056...31,125,465
JBrowse link
G SLC12A9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:8,696,593...8,712,904
Ensembl chr 3:8,697,439...8,712,918
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 7:24,218,120...24,221,162
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
Ensembl chr14:100,927,089...100,956,716
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 9:91,506,421...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 7:23,696,040...23,698,299
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 chr14:97,102,823...97,108,083
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 chr17:48,179,671...48,186,788
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 6:49,332,173...49,349,046
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 7:23,699,628...23,702,416
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 chr14:112,808,162...112,814,248
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...71,936,104
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 Ensembl chr 5:8,986,462...9,007,435 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 2:151,155,756...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 5:12,185,818...12,242,581
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 ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome ClinVar PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr12:42,793,755...42,808,937
Ensembl chr12:42,795,409...42,808,897
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 1 with or without pseudohyperkalemia and/or 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 ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH OMIM
ClinVar
PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111
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 2:3,185,675...3,194,818
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 9:91,506,421...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 CDK2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 5:21,365,723...21,372,170
Ensembl chr 5:21,365,764...21,372,168
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
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 chr14:91,516,431...91,552,752
JBrowse link
G FOXO3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325
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...77,323,931
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 2:5,209,439...5,227,758
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 9:39,834,973...39,861,219
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 MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO RGD PMID:22972987 RGD:155663421 NCBI chr 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057
JBrowse link
G MIR105-2 microRNA mir-105-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr  X:123,630,499...123,630,578
Ensembl chr  X:123,630,499...123,630,578
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 chr14:90,338,510...90,480,989
JBrowse link
G SALL1 spalt like transcription factor 1 ISO RGD PMID:11688560 RGD:155641230 NCBI chr 6:33,731,666...33,748,698
Ensembl chr 6:33,732,025...33,748,704
JBrowse link
G SALL4 spalt like transcription factor 4 ISO RGD PMID:16790473 RGD:155631313 NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190
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 1:253,868,332...253,894,449
JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO RGD PMID:22972987 RGD:155663421 NCBI chr 1:16,533,364...16,611,879
Ensembl chr 1:16,533,285...16,611,884
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:22972987 RGD:155663421 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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 CEP128 centrosomal protein 128 ISO ClinVar Annotator: match by term: Familial gestational hyperthyroidism ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 7:103,345,978...103,760,323
Ensembl chr 7:103,345,985...103,760,292
JBrowse link
G TSHR thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Familial gestational hyperthyroidism ClinVar PMID:7528344 PMID:8636266 PMID:8681963 PMID:8954020 PMID:8964822 More... 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 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 deformation sequence ClinVar PMID:25741868 PMID:33060286 NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674
JBrowse link
G DOK7 docking protein 7 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2261499 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 More... NCBI chr 8:2,089,645...2,119,076
Ensembl chr 8:2,089,670...2,122,685
JBrowse link
G MUSK muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:9536098 PMID:15496425 PMID:17576681 PMID:23326516 PMID:24122059 More... NCBI chr 1:251,650,151...251,758,538
Ensembl chr 1:251,650,710...251,756,608
JBrowse link
G PRG4 proteoglycan 4 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:127,463,875...127,481,770 JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:25658027 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
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 ACP2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:15,334,015...15,342,531
Ensembl chr 2:15,334,001...15,347,770
JBrowse link
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:19562689 PMID:25741868 PMID:28492532 PMID:31680123 PMID:33060286 NCBI chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674
JBrowse link
G ADSS1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:19,351,485...19,375,515
Ensembl chr 7:19,351,361...19,379,098
JBrowse link
G ARFGAP2 ADP ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:15,390,547...15,401,230
Ensembl chr 2:15,390,415...15,401,227
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:29140481 PMID:31680123 NCBI chr17:5,712,048...5,749,811
Ensembl chr17:5,712,058...5,758,821
JBrowse link
G ASCC1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8677029 PMID:25741868 PMID:28749478 PMID:31680123 NCBI chr14:74,975,163...75,109,283
Ensembl chr14:74,975,165...75,083,634
JBrowse link
G ASPM assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr10:19,971,516...20,039,680
Ensembl chr10:19,975,192...20,039,623
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653
JBrowse link
G AVEN apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:80,447,337...80,640,120
Ensembl chr 7:80,447,524...80,640,119
JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 8:101,737,084...101,937,212
Ensembl chr 8:101,737,598...101,937,256
JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr15:133,040,310...133,047,839
Ensembl chr15:133,040,340...133,048,829
JBrowse link
G CNTNAP1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:20,141,222...20,157,341
Ensembl chr12:20,141,641...20,157,044
JBrowse link
G CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:15,401,150...15,606,626
Ensembl chr 2:15,401,150...15,606,590
JBrowse link
G DDB2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:15,342,614...15,370,623
Ensembl chr 2:15,337,743...15,383,120
JBrowse link
G DOK7 docking protein 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 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 deformation sequence 1 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 deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 3:22,654,351...22,684,246
Ensembl chr 3:22,657,766...22,684,241
JBrowse link
G EXOSC3 exosome component 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 More... NCBI chr 1:238,536,341...238,541,756
Ensembl chr 1:238,536,345...238,541,333
JBrowse link
G FBLN1 fibulin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 5:3,839,498...3,927,178
Ensembl chr 5:3,839,502...3,927,183
JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25558065 NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,152,127...131,370,881
JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr13:173,634,401...173,909,646
Ensembl chr13:173,634,454...173,914,756
JBrowse link
G GCN1 GCN1 activator of EIF2AK4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr14:40,151,415...40,218,183
Ensembl chr14:40,146,472...40,218,107
JBrowse link
G GFRA4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr17:32,040,183...32,044,396
Ensembl chr17:32,040,235...32,046,105
JBrowse link
G GLDN gliomedin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 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 deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 5:67,445,839...67,540,488
Ensembl chr 5:67,445,838...67,540,485
JBrowse link
G LGI4 leucine rich repeat LGI family member 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 6:44,655,621...44,663,874
Ensembl chr 6:44,655,619...44,663,234
JBrowse link
G LRP4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:15,616,137...15,672,876
Ensembl chr 2:15,616,131...15,672,874
JBrowse link
G MADD MAP kinase activating death domain ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:15,270,783...15,315,459
Ensembl chr 2:15,270,789...15,315,477
JBrowse link
G MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 4:106,880,617...107,120,043
Ensembl chr 4:106,882,435...107,120,035
JBrowse link
G MUSK muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I OMIM
ClinVar
PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 More... NCBI chr 1:251,650,151...251,758,538
Ensembl chr 1:251,650,710...251,756,608
JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 5:6,580,141...6,587,550
Ensembl chr 5:6,571,020...6,588,055
JBrowse link
G NALCN sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 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 NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16138229 PMID:23656349 PMID:24033266 PMID:25326637 PMID:25741868 More... NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969
JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:15,315,283...15,336,785
Ensembl chr 2:15,315,282...15,334,820
JBrowse link
G PACSIN3 protein kinase C and casein kinase substrate in neurons 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:15,380,297...15,389,893
Ensembl chr 2:15,381,707...15,389,887
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More... NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,978...97,944,456
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 deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 5:73,707,026...73,826,529
Ensembl chr 5:73,707,050...73,826,430
JBrowse link
G PSMC3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:15,185,482...15,191,189
Ensembl chr 2:15,166,306...15,193,047
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr14:2,803,840...3,035,384
Ensembl chr14:2,804,061...3,035,296
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:25658027 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,582
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543
JBrowse link
G SETBP1 SET binding protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 More... NCBI chr 1:94,295,332...94,666,560
Ensembl chr 1:94,295,851...94,663,017
JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:15,194,028...15,202,936
Ensembl chr 2:15,194,017...15,210,425
JBrowse link
G SPAG16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr15:115,809,152...116,760,976
Ensembl chr15:115,809,187...116,761,791
JBrowse link
G SPI1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:15,227,850...15,245,679
Ensembl chr 2:15,227,881...15,245,677
JBrowse link
G SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 1:251,367,401...251,571,799
Ensembl chr 1:251,368,845...251,571,415
JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 5:85,317,648...85,346,528
Ensembl chr 5:85,315,290...85,346,538
JBrowse link
G TXN thioredoxin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 1:251,264,180...251,278,000
Ensembl chr 1:251,263,175...251,277,988
JBrowse link
G TXNDC8 thioredoxin domain containing 8 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 1:251,312,120...251,340,761
Ensembl chr 1:251,311,119...251,340,988
JBrowse link
G UNC50 unc-50 inner nuclear membrane RNA binding protein ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:55,667,821...55,676,995
Ensembl chr 3:55,667,826...55,676,978
JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 6:72,256,865...72,514,256
Ensembl chr 6:72,256,828...72,510,058
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 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 DOCK7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 ClinVar PMID:25741868 NCBI chr 6:149,745,375...149,971,853
Ensembl chr 6:149,748,036...149,972,168
JBrowse link
G DOK7 docking protein 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 OMIM
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
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 ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 OMIM
ClinVar
PMID:25741868 PMID:30543681 NCBI chr12:51,562,455...51,603,095
Ensembl chr12:51,562,440...51,601,968
JBrowse link
G RABEP1 rabaptin, RAB GTPase binding effector protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 ClinVar PMID:25741868 NCBI chr12:51,602,228...51,868,180
Ensembl chr12:51,602,226...51,858,206
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 6:51,372,292...51,375,330
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 CRHR1 corticotropin releasing hormone receptor 1 sexual_dimorphism ISO associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat) RGD PMID:29251811 RGD:401965484 NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,020...17,306,285
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA,protein:increased expression:Pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072
JBrowse link
G DRD2 dopamine receptor D2 ISO DNA:Hypermethylation:promoter
mRNA:decreased expression: pituitary gland (rat)
RGD PMID:26509893 PMID:28710248 RGD:11344152 RGD:401960105 NCBI chr 9:41,068,618...41,135,262
Ensembl chr 9:41,068,779...41,133,599
JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 ISO mRNA:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 7:23,977,683...23,992,673
Ensembl chr 7:23,977,683...23,993,478
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO mRNA:increased expression:posterior hypothalamic region (rat) RGD PMID:18514412 RGD:402528884 NCBI chr16:61,441,622...61,543,375
Ensembl chr16:61,441,632...61,543,361
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 5:58,480,528...58,927,558
JBrowse link
G HDAC2 histone deacetylase 2 ISO mRNA,protein:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
JBrowse link
G HDAC4 histone deacetylase 4 ISO mRNA,protein:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301
JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO protein:increased expression:placenta (rat) RGD PMID:26342748 RGD:401965481 NCBI chr 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,671
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...81,848,033
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 1:137,387,825...137,691,058
JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chr 3:59,220,203...59,225,097
Ensembl chr 3:59,218,688...59,225,249
JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO mRNA:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659
JBrowse link
G MIR326 microRNA mir-326 ISO miRNA:increases expression:pituitary gland (rat) RGD PMID:28710248 RGD:401960105 NCBI chr 9:9,581,944...9,582,034
Ensembl chr 9:9,581,944...9,582,034
JBrowse link
G MIR7-1 microRNA mir-7-1 ISO miRNA:increased expression:pituitary gland (rat) RGD PMID:28710248 RGD:401960105 NCBI chr 1:191,218,565...191,218,648
Ensembl chr 1:191,218,565...191,218,648
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763
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...35,295,944
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 sexual_dimorphism ISO associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat)
associated with adrenalectomy, chronic stress, female; mRNA:increased expression:prefrontal cortex (rat)
RGD PMID:29251811 PMID:30367959 RGD:401965484 RGD:401966864 NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451
JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 sexual_dimorphism ISO associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat) RGD PMID:29251811 RGD:401965484 NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,312,234...80,668,412
JBrowse link
G OPRK1 opioid receptor kappa 1 ISO DNA, mRNA:hypomethylation, increased expression:ventral tegmental area, prefrontal cortex RGD PMID:29678771 RGD:401851055 NCBI chr 4:77,399,298...77,429,025
Ensembl chr 4:77,399,183...77,426,879
JBrowse link
G OPRL1 opioid related nociceptin receptor 1 ISO mRNA:decreased expression:ventral tegmental area RGD PMID:29678771 RGD:401851055 NCBI chr17:62,905,700...62,913,018
Ensembl chr17:62,905,082...62,913,754
JBrowse link
G PDYN prodynorphin ISO DNA, mRNA:hypomethylation, altered expression:ventral tegmental area, nucleus accumbens RGD PMID:29678771 RGD:401851055 NCBI chr17:33,505,075...33,521,534
Ensembl chr17:33,505,079...33,521,532
JBrowse link
G PNOC prepronociceptin ISO mRNA:increased expression:nucleus accumbens RGD PMID:29678771 RGD:401851055 NCBI chr14:12,101,223...12,134,174
Ensembl chr14:12,101,698...12,133,778
JBrowse link
G PRL prolactin ISO mRNA, protein:increased expression:pituitary gland, blood plasma (rat)
mRNA,protein:increased expression:pituitary gland, blood plasma (rat)
RGD PMID:26509893 PMID:28710248 RGD:11344152 RGD:401960105 NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710
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 6:83,905,077...83,950,963
JBrowse link
G SETD7 SET domain containing 7, histone lysine methyltransferase ISO mRNA:decreased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 8:87,478,266...87,527,190
Ensembl chr 8:87,478,173...87,527,188
JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378
JBrowse link
fetal alcohol syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHOA ras homolog family member A ISO protein:increased activation:neuron, cerebellum RGD PMID:17109064 RGD:2298867 NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607
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...15,414,703
JBrowse link
G AHSP alpha hemoglobin stabilizing protein ISO mRNA, protein:decreased expression:placenta (human) RGD PMID:18347943 RGD:329956422 NCBI chr 3:17,059,340...17,060,343
Ensembl chr 3:17,059,333...17,065,749
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...83,289,989
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 4:81,403,274...81,485,066
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 6:82,013,969...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...101,373,526
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 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...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 chr17:32,605,586...32,606,546
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...41,021,441
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 4:62,569,885...62,601,439
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...72,231,147
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 chr14:111,315,141...111,351,868
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 chr12:44,174,948...44,218,146
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...17,362,220
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 ClinVar Annotator: match by term: Cocoon syndrome OMIM
ClinVar
PMID:20961246 NCBI chr14:111,316,178...111,351,669
Ensembl chr14:111,315,141...111,351,868
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 6:168,595,907...168,621,952
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 SLC14A1 solute carrier family 14 member 1 ISO ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM ClinVar NCBI chr 1:95,354,848...95,381,492
Ensembl chr 1:95,355,016...95,381,489
JBrowse link
G SLC29A1 solute carrier family 29 member 1 ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 7:39,217,974...39,234,683
Ensembl chr 7:39,218,051...39,234,685
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...15,414,703
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 chr13:124,633,685...124,646,646
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...59,656,833
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...88,983,105
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 6:51,372,292...51,375,330
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 1:32,006,046...32,028,988
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 1:95,733,090...95,750,841
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 6:54,222,336...54,228,140
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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 1:183,416,146...183,422,637
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO protein:decreased expression:pancreas (rat) RGD PMID:20873977 RGD:152985538 NCBI chr 5:69,016,954...69,448,428
Ensembl chr 5:69,275,176...69,448,430
JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO protein:decreased expression:pancreas (rat) RGD PMID:20873977 RGD:152985538 NCBI chr13:35,568,534...35,911,483
Ensembl chr13:35,436,519...35,909,662
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...111,914,492
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
JBrowse link
G CFP complement factor properdin ISO mRNA:decreased expression:placenta RGD PMID:20008130 RGD:7488901 NCBI chr  X:42,157,980...42,174,964
Ensembl chr  X:42,157,988...42,174,951
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 5:78,350,137...78,380,718
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 chr14:51,385,738...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 chr15:113,150,157...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 6:142,454,914...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 7:58,802,887...58,809,775
JBrowse link
G DDX23 DEAD-box helicase 23 ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:25741868 PMID:34050707 NCBI chr 5:14,888,951...14,909,741
Ensembl chr 5:14,888,958...14,899,174
JBrowse link
G DES desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423
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 2:68,981,566...69,029,844
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 chr17:36,345,816...36,386,072
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...120,919,384
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Intrauterine growth restriction 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...34,040,188
JBrowse link
G ESRRG estrogen related receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:35220427 NCBI chr10:6,710,615...7,371,419
Ensembl chr10:6,712,860...6,941,501
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
Ensembl chr14:100,927,089...100,956,716
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...115,076,464
JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO mRNA:decreased expression:placenta
mRNA:decreased expression:chorionic villus
RGD PMID:25054679 RGD:329955538 NCBI chr 6:31,177,112...31,564,674
Ensembl chr 6:31,174,569...31,564,718
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 chr12:19,965,330...19,975,857
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 chr13:66,445,992...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 chr13:110,983,298...111,038,324
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...88,005,520
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 chr16:69,332,587...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 3:32,750,700...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 5:58,480,528...58,927,558
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...112,797,733
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...88,785,411
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...46,847,500
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...28,089,671
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...81,848,033
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 1:137,387,825...137,691,058
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
Ensembl chr18:50,003,022...50,010,690
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...128,307,284
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 LEP leptin ISO RGD PMID:21353474 RGD:5128507 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
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 9:72,964,869...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 5:33,105,759...33,137,739
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...124,738,659
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 6:30,058,595...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...88,537,387
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
Ensembl chr 2:689,364...710,330
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 NFE2 like bZIP transcription factor 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 chr15:82,973,656...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...35,295,944
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 chr12:44,174,948...44,218,146
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 chr18:6,209,158...6,228,943
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 2:144,822,939...144,956,451
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 6:159,819,339...159,852,305
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...34,391,821
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...57,936,522
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 3:301,584...321,712
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 Ensembl chr 5:8,986,462...9,007,435 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 chr11:5,303,609...5,309,063
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 chr13:68,302,322...68,433,944
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...17,946,992
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 6:141,958,955...142,161,286
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 9:127,850,015...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 chr14:39,202,169...39,292,003
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...64,822,658
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...8,871,547
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 7:58,176,167...58,245,971
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 chr13:109,587,258...109,638,510
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 5:77,113,494...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...195,337,729
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...60,751,267
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 chr15:48,377,521...48,385,462
JBrowse link
G TFF3 trefoil factor 3 ISO RGD PMID:19287349 RGD:7349369 NCBI chr13:205,641,038...205,644,333
Ensembl chr13:205,641,038...205,644,333
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...78,266,475
JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Intrauterine growth restriction ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169
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 4:68,484,053...68,486,121
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 chr12:17,252,020...17,306,285
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...42,295,467
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...33,420,076
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 9:33,549,008...33,561,162
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...35,295,944
JBrowse link
Fetal Inflammatory Response Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL6 interleukin 6 ISO associated with Premature Birth; RGD PMID:24832219 RGD:12801490 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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...46,847,500
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...81,848,033
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
Ensembl chr18:50,003,022...50,010,690
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 1:113,433,687...113,583,963
JBrowse link
Fetal Nutrition Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain ISO associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397
JBrowse link
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
G NPHS2 NPHS2 stomatin family member, podocin ISO associated with maternal low protein diet; protein:decreased expression:kidney (rat) RGD PMID:23977013 RGD:155882570 NCBI chr 9:121,217,734...121,236,214
Ensembl chr 9:121,218,369...121,236,430
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655
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...17,463,710
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...17,463,710
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 chr13:124,633,685...124,646,646
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 ANGPTL6 angiopoietin like 6 ISO protein:increased expression:blood serum,umbilical artery (human) RGD PMID:35876300 RGD:329845845 NCBI chr 2:68,947,067...68,958,820
Ensembl chr 2:68,947,071...68,958,766
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...53,800,677
JBrowse link
G ATP2B1 ATPase plasma membrane Ca2+ transporting 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 5:92,935,688...93,061,406
Ensembl chr 5:92,935,694...93,061,405
JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653
JBrowse link
G ATP2B4 ATPase plasma membrane Ca2+ transporting 4 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 9:64,336,354...64,445,669
Ensembl chr 9:64,336,499...64,445,663
JBrowse link
G BNIP3L BCL2 interacting protein 3 like ISO RGD PMID:26512955 RGD:11564338 NCBI chr14:10,318,688...10,345,689
Ensembl chr14:10,318,732...10,345,679
JBrowse link
G C14H12orf43 chromosome 14 C12orf43 homolog ISO ClinVar Annotator: match by term: Gestational diabetes ClinVar PMID:9562352 PMID:35299962 NCBI chr14:40,888,642...40,899,097
Ensembl chr14:40,886,053...40,899,037
JBrowse link
G CALB1 calbindin 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 4:46,701,276...46,723,548
Ensembl chr 4:46,701,045...46,725,197
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...40,800,026
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34175429 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691
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...16,626,276
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 CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO mRNA:increased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO mRNA:increased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,053,892...23,058,470
JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 2:44,375,432...44,394,122
Ensembl chr 2:44,375,520...44,396,334
JBrowse link
G DCN decorin ISO RGD PMID:16630654 RGD:2311413 NCBI chr 5:91,678,601...91,713,925
Ensembl chr 5:91,682,658...91,714,235
JBrowse link
G DNAH8 dynein axonemal heavy chain 8 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 7:34,197,185...34,479,640
Ensembl chr 7:34,188,145...34,479,623
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 8:101,278,885...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 chr12:19,965,330...19,975,857
JBrowse link
G GAD2 glutamate decarboxylase 2 ISO RGD PMID:18588707 RGD:2313295 NCBI chr10:49,316,682...49,391,013
Ensembl chr10:49,313,647...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 chr13:31,916,246...31,917,433
JBrowse link
G HNF1A HNF1 homeobox A ISO ClinVar Annotator: match by term: Gestational diabetes ClinVar PMID:9562352 PMID:35299962 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 1:137,387,825...137,691,058
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 9:67,400,728...67,405,378
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 9:91,506,421...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...71,936,104
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912
JBrowse link
G ITPR2 inositol 1,4,5-trisphosphate receptor type 2 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 5:46,935,923...47,465,681
Ensembl chr 5:46,935,932...47,464,125
JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 7:29,835,922...29,901,305
Ensembl chr 7:29,835,922...29,901,309
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...20,123,323
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 6:146,801,954...146,895,995
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 chr14:97,102,823...97,108,083
JBrowse link
G MEN1 menin 1 ISO RGD PMID:17975067 RGD:2317319 NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO MouseDO NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512
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 OGG1 8-oxoguanine DNA glycosylase ISO mRNA:increased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr13:66,038,669...66,045,478 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 RBP4 retinol binding protein 4 ISO protein:increased expression:blood serum (human) RGD PMID:35876300 RGD:329845845 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
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 RYR1 ryanodine receptor 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
JBrowse link
G RYR2 ryanodine receptor 2 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063
JBrowse link
G RYR3 ryanodine receptor 3 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491
JBrowse link
G S100G S100 calcium binding protein G ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr  X:13,107,611...13,114,213
Ensembl chr  X:13,107,402...13,114,213
JBrowse link
G SIRT3 sirtuin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23956348 NCBI chr 2:38,465...55,074
Ensembl chr 2:38,464...55,101
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23956348 PMID:30738174 PMID:34175429 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
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 6:82,286,211...82,343,766
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 chr14:123,343,412...123,546,417
JBrowse link
G TRPV5 transient receptor potential cation channel subfamily V member 5 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr18:7,285,186...7,341,965
Ensembl chr18:7,284,589...7,318,392
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...68,559,674
JBrowse link
G VDR vitamin D receptor ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
JBrowse link
gestational trophoblastic neoplasm 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: Gestational trophoblastic neoplasia ClinVar PMID:21948117 PMID:25741868 NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990
JBrowse link
G NLRP7 NLR family pyrin domain containing 7 ISO ClinVar Annotator: match by term: Gestational trophoblastic neoplasia ClinVar PMID:21948117 PMID:25741868 NCBI chr 6:59,112,811...59,150,916 JBrowse link
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 ClinVar Annotator: match by term: GRACILE syndrome OMIM
ClinVar
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... 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 ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia OMIM
ClinVar
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... 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 ANXA5 annexin A5 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
NCBI chr 8:102,387,833...102,420,868
Ensembl chr 8:102,388,103...102,425,750
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:19086990 RGD:11039490 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
JBrowse link
G ASIC5 acid sensing ion channel subunit family member 5 ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 ClinVar NCBI chr 8:44,646,451...44,674,639
Ensembl chr 8:44,646,814...44,674,650
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 chr18:46,193,140...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 CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 ClinVar NCBI chr  X:43,922,729...43,988,939
Ensembl chr  X:43,922,804...43,990,929
JBrowse link
G CDK2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 5:21,365,723...21,372,170
Ensembl chr 5:21,365,764...21,372,168
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
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 chr18:43,844,942...44,261,031
JBrowse link
G F2 coagulation factor II, thrombin ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 ClinVar
OMIM
PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:8696333 More... NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
JBrowse link
G F5 coagulation factor V susceptibility ISO ClinVar Annotator: match by term: FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO ClinVar
OMIM
PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066
JBrowse link
G FOXO3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325
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 6:71,863,637...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...107,227,168
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 ClinVar NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149
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 3:22,537,831...22,552,380
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 1:273,011,734...273,021,938
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 5:82,493,034...82,501,656
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 chr17:30,217,303...30,224,099
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 1:273,024,009...273,056,039
JBrowse link
G AHSP alpha hemoglobin stabilizing protein ISO mRNA:decreased expression:placenta (human) RGD PMID:18347943 RGD:329956422 NCBI chr 3:17,059,340...17,060,343
Ensembl chr 3:17,059,333...17,065,749
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...111,789,709
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
Ensembl chr14:100,927,089...100,956,716
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...115,076,464
JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCLRE1B DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328 NCBI chr 4:106,646,591...106,656,490
Ensembl chr 4:106,646,011...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 PMID:20301779 More... NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) RGD PMID:23959892 RGD:152977765 NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690
JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia ClinVar PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,063,979
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 EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr12:18,474,367...18,514,993
Ensembl chr12:18,474,097...18,517,479
JBrowse link
G KHDC3L KH domain containing 3 like, subcortical maternal complex member ISO ClinVar Annotator: match by term: Hydatidiform mole 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 chr13:21,791,203...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 6:30,058,595...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...93,163,585
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 6:59,092,911...59,099,990
JBrowse link
G NLRP7 NLR family pyrin domain containing 7 ISO ClinVar Annotator: match by term: Hydatidiform mole 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 2:151,155,756...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...93,163,585
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 6:59,092,911...59,099,990
JBrowse link
G NLRP7 NLR family pyrin domain containing 7 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 OMIM
ClinVar
PMID:2030859 PMID:10072436 PMID:10951527 PMID:11598368 PMID:12471053 More... 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 ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2 OMIM
ClinVar
PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 More... 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 ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 OMIM
ClinVar
PMID:25741868 PMID:30388401 NCBI chr 5:6,785,957...6,870,599
Ensembl chr 5:6,800,961...6,871,625
JBrowse link
Hydatidiform Mole, Recurrent, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOP6BL TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 OMIM
ClinVar
PMID:25741868 PMID:30388401 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
Ensembl chr14:60,412,812...60,415,674
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...69,721,696
JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 3:37,664,182...37,689,502
Ensembl chr 3:37,650,256...37,689,500
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 6:84,049,087...84,123,349
JBrowse link
G C9H1orf105 chromosome 9 C1orf105 homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741913 PMID:26036949 NCBI chr 9:114,828,414...114,850,267
Ensembl chr 9:114,814,030...114,851,040
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 chr15:80,673,067...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 chr17:48,082,448...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...157,519,061
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
Ensembl chr10:13,104,564...13,389,992
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 NCBI chr12:56,045,079...56,366,327
Ensembl chr12:56,045,381...56,358,236
JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:6,662,460...6,678,721
Ensembl chr 2:6,662,463...6,678,888
JBrowse link
G FCRL4 Fc receptor like 4 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741914 NCBI chr 4:92,542,380...92,570,481
Ensembl chr 4:92,543,263...92,567,723
JBrowse link
G FEN1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:9,752,004...9,756,863
Ensembl chr 2:9,752,013...9,756,728
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:16920951 PMID:22590469 PMID:25546394 More... NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968
JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:25741914 PMID:26036949 NCBI chr 4:33,811,159...33,844,556
Ensembl chr 4:33,809,809...33,844,656
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 3:108,223,996...108,440,189
JBrowse link
G GUSB glucuronidase beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 More... NCBI chr 3:16,672,071...16,686,520
Ensembl chr 3:16,671,389...16,689,203
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO 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: Fetal edema 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 KIF19 kinesin family member 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr12:6,775,695...6,803,066
Ensembl chr12:6,775,705...6,803,014
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 5:48,508,811...48,549,358
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO 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 2:304,430...323,699
JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
JBrowse link
G MOCS3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr17:52,377,343...52,379,711
Ensembl chr17:52,377,348...52,380,260
JBrowse link
G MYBPHL myosin binding protein H like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 4:110,792,628...110,809,479
Ensembl chr 4:110,793,408...110,808,248
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 PMID:31130284 NCBI chr 6:103,451,206...103,593,093
Ensembl chr 6:103,451,343...103,597,297
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:25741868 PMID:25741916 PMID:26036949 More... NCBI chr15:546,187...766,131
Ensembl chr15:546,173...766,125
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 2:80,654,379...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:28492532 PMID:28619848 PMID:30187933 PMID:30244526 More... NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111
JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741913 PMID:26036949 NCBI chr 9:114,824,795...114,827,731
Ensembl chr 9:114,824,802...114,827,413
JBrowse link
G PRPF19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:10,851,779...10,860,315
Ensembl chr 2:10,851,579...10,860,836
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003
JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 More... NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,117,882...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 3:125,352,920...125,493,362
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491
JBrowse link
G SERPINA11 serpin family A member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 7:115,666,071...115,681,890
Ensembl chr 7:115,666,070...115,681,790
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...82,095,393
JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 More... NCBI chr14:121,347,938...121,444,144
Ensembl chr14:121,349,059...121,444,136
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr12:42,983,597...43,032,671
Ensembl chr12:42,983,601...43,032,654
JBrowse link
G SVOPL SVOP like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr18:10,968,717...11,045,365
Ensembl chr18:10,968,790...11,043,021
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741915 PMID:26036949 PMID:28749478 NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,668,813...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 3:37,512,313...37,555,203
JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 6:72,256,865...72,514,256
Ensembl chr 6:72,256,828...72,510,058
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 ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia OMIM
ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327
JBrowse link
Hyperemesis Gravidarum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF15 growth differentiation factor 15 susceptibility ISO ClinVar Annotator: match by term: Hyperemesis gravidarum, susceptibility to OMIM
ClinVar
PMID:35218128 PMID:38092039 NCBI chr 2:59,409,035...59,411,356
Ensembl chr 2:59,408,904...59,411,358
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 ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies OMIM
ClinVar
PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 More... NCBI chr 2:2,019,391...2,022,092
Ensembl chr 2:2,019,830...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 ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency ClinVar
OMIM
PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 More... 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 CTD NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,936,581...163,061,612
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 2:143,273,192...143,287,399
JBrowse link
G IL18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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 7:23,699,628...23,702,416
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 4:117,496,920...117,511,222
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 ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1 OMIM
ClinVar
PMID:15239083 PMID:15657619 PMID:15888793 PMID:19731236 PMID:20981092 More... NCBI chr 1:162,936,209...163,063,040
Ensembl chr 1:162,936,581...163,061,612
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 chr15:75,402,396...75,486,403
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 OMIM
ClinVar
PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 More... 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:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 6:79,849,691...79,958,283
Ensembl chr 6:79,849,698...79,958,334
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 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MDFIC MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar
PMID:25741868 PMID:35235341 NCBI chr18:31,026,048...31,125,664
Ensembl chr18:31,027,056...31,125,465
JBrowse link
Lymphatic Malformation 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar
PMID:25741868 PMID:25741915 PMID:26036949 PMID:28749478 PMID:30055085 More... NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,668,813...15,697,872
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 ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar
PMID:25741868 NCBI chr15:92,233,264...92,332,459
Ensembl chr15:92,233,841...92,332,386
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 2:72,431,212...72,472,228
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 chr12:39,478,882...39,481,082
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...258,058,970
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
Ensembl chr13:34,349,609...34,357,673
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 5:81,385,435...81,463,451
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...59,656,833
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 ATF2 activating transcription factor 2 ISO MouseDO NCBI chr15:80,984,969...81,076,573
Ensembl chr15:80,985,126...81,081,014
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...69,121,351
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:25741868 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: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 ClinVar PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 More... NCBI chr15:29,782,613...30,042,727
Ensembl chr15:29,782,746...30,042,734
JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I ClinVar PMID:22958901 PMID:24111713 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225
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 ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: PCNT-related condition OMIM
ClinVar
PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 More...
mild pre-eclampsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPX3 glutathione peroxidase 3 ISO protein:increased expression:plasma RGD PMID:8476834 RGD:401827852 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
JBrowse link
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar
PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 More... NCBI chr15:80,673,072...80,692,256
Ensembl chr15:80,673,067...80,692,208
JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar
PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 More... NCBI chr15:133,040,310...133,047,839
Ensembl chr15:133,040,340...133,048,829
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar
PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr15:133,051,668...133,059,935
Ensembl chr15:133,052,031...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
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 ClinVar Annotator: match by term: Neu-Laxova syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 4:101,445,977...101,478,144
Ensembl chr 4:101,444,693...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...231,172,360
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:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More... NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25741905 PMID:25795793 PMID:28492532 PMID:30368668 More... NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723
JBrowse link
oligohydramnios term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen ISO ClinVar Annotator: match by term: Anhydramnios ClinVar PMID:25741868 PMID:35005812 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
JBrowse link
G DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: anhydramnios ClinVar PMID:25741868 PMID:35005812 NCBI chr13:124,387,921...124,409,967
Ensembl chr13:124,390,970...124,413,200
JBrowse link
G INF2 inverted formin 2 ISO ClinVar Annotator: match by term: Oligohydramnios ClinVar PMID:25741868
G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: anhydramnios ClinVar PMID:25741868 PMID:35005812 NCBI chr13:73,843,770...73,901,020
Ensembl chr13:73,858,427...73,900,967
JBrowse link
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 3:301,584...321,712
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA, protein:increased expression:lung RGD PMID:17519529 RGD:2292203 Ensembl chr 5:8,986,462...9,007,435 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...41,021,441
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 2:151,155,756...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...73,049,996
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: anhydramnios ClinVar PMID:25741868 PMID:35005812 NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: anhydramnios ClinVar PMID:25741868 PMID:35005812 NCBI chr 8:131,002,973...131,058,932
Ensembl chr 8:131,005,407...131,058,932
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios ClinVar PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 More... NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149
JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 More... NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,879,140...42,931,121
JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 15 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 ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 OMIM
ClinVar
PMID:25741868 PMID:26537248 PMID:36271123 NCBI chr 2:75,537,641...75,550,676 JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PADI6 peptidyl arginine deiminase 6 ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality 2 OMIM
ClinVar
PMID:25741868 PMID:27545678 PMID:34987164 NCBI chr 6:75,969,855...75,987,097
Ensembl chr 6:75,969,958...75,987,093
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 3:163,421...200,459
JBrowse link
G FANCD2 FA complementation group D2 ISO RGD PMID:12893777 RGD:11344906 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433
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 chr14:79,352,005...80,106,295
JBrowse link
G LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Neonatal death ClinVar PMID:25741868 PMID:28492532 PMID:33639934 NCBI chr 1:271,004,423...271,071,223
Ensembl chr 1:271,004,433...271,071,223
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 PMID:25741868 PMID:28492532 PMID:31130284 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 chr16:54,277,052...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:25741916 PMID:28556411 NCBI chr12:47,921,818...47,933,782
Ensembl chr12:47,922,012...47,933,778
JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287
JBrowse link
Perlman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMC9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:131,928,642...132,101,348
Ensembl chr15:131,928,719...132,101,343
JBrowse link
G ATG16L1 autophagy related 16 like 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:133,651,294...133,693,472
Ensembl chr15:133,651,298...133,693,468
JBrowse link
G B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:132,127,386...132,131,912
Ensembl chr15:132,127,396...132,131,916
JBrowse link
G C15H2orf72 chromosome 15 C2orf72 homolog ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:131,787,171...131,795,373
Ensembl chr15:131,787,212...131,795,361
JBrowse link
G CAB39 calcium binding protein 39 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:131,492,575...131,584,963
Ensembl chr15:131,492,578...131,584,962
JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:133,040,310...133,047,839
Ensembl chr15:133,040,340...133,048,829
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:133,051,668...133,059,935
Ensembl chr15:133,052,031...133,058,544
JBrowse link
G COPS7B COP9 signalosome subunit 7B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:132,427,023...132,451,199
Ensembl chr15:132,427,173...132,450,689
JBrowse link
G CTR9 CTR9 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Predisposition to Wilms tumor ClinVar PMID:25099282 PMID:28492532 NCBI chr 2:48,700,629...48,729,480
Ensembl chr 2:48,700,974...48,729,307
JBrowse link
G DGKD diacylglycerol kinase delta ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:133,749,349...133,867,804
Ensembl chr15:133,749,345...133,867,801
JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:25741868 NCBI chr11:45,046,040...45,075,973
Ensembl chr11:45,044,508...45,075,963
JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Perlman syndrome OMIM
ClinVar
PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 More... NCBI chr15:132,540,784...132,902,943
Ensembl chr15:132,540,829...132,906,232
JBrowse link
G DNAJB3 DnaJ heat shock protein family (Hsp40) member B3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:134,027,252...134,028,266 JBrowse link
G ECEL1 endothelin converting enzyme like 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:132,988,705...132,997,924
Ensembl chr15:132,988,657...132,997,825
JBrowse link
G EFHD1 EF-hand domain family member D1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:133,120,092...133,169,430
Ensembl chr15:133,120,093...133,169,428
JBrowse link
G EIF4E2 eukaryotic translation initiation factor 4E family member 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:133,060,054...133,092,624
Ensembl chr15:133,060,247...133,103,719
JBrowse link
G GIGYF2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:133,180,638...133,313,307
Ensembl chr15:133,260,113...133,311,887
JBrowse link
G GPR55 G protein-coupled receptor 55 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:131,655,655...131,674,816
Ensembl chr15:131,655,663...131,673,693
JBrowse link
G HJURP Holliday junction recognition protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:134,106,561...134,123,163
Ensembl chr15:134,106,578...134,123,140
JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:131,844,578...131,860,417
Ensembl chr15:131,844,992...131,859,277
JBrowse link
G ITM2C integral membrane protein 2C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:131,614,887...131,627,428
Ensembl chr15:131,614,743...131,628,619
JBrowse link
G KCNJ13 potassium inwardly rectifying channel subfamily J member 13 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:133,239,843...133,249,630
Ensembl chr15:133,237,960...133,249,400
JBrowse link
G LOC100517129 nuclear body protein SP140-like protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:131,299,923...131,381,253 JBrowse link
G LOC100522404 intestinal-type alkaline phosphatase-like ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:132,974,852...132,979,361 JBrowse link
G LOC110261337 tigger transposable element-derived protein 1-like ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 6:63,122,856...63,151,009 JBrowse link
G MROH2A maestro heat like repeat family member 2A ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:134,053,884...134,103,255
Ensembl chr15:134,053,685...134,103,631
JBrowse link
G NCL nucleolin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:132,163,453...132,174,214
Ensembl chr15:132,162,516...132,174,172
JBrowse link
G NEU2 neuraminidase 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:133,392,559...133,479,406
Ensembl chr15:133,468,293...133,477,110
JBrowse link
G NGEF neuronal guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:133,332,715...133,460,161
Ensembl chr15:133,332,718...133,460,166
JBrowse link
G NMUR1 neuromedin U receptor 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:132,217,236...132,228,645
Ensembl chr15:132,217,223...132,228,645
JBrowse link
G NPPC natriuretic peptide C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:132,504,669...132,509,688
Ensembl chr15:132,506,474...132,509,673
JBrowse link
G PDE6D phosphodiesterase 6D ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:132,376,117...132,426,678
Ensembl chr15:132,375,743...132,426,683
JBrowse link
G PRSS56 serine protease 56 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:133,033,848...133,039,583
Ensembl chr15:133,034,255...133,039,367
JBrowse link
G PSMD1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:131,807,594...131,912,194
Ensembl chr15:131,807,630...131,912,866
JBrowse link
G PTMA prothymosin alpha ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:132,353,763...132,361,442
Ensembl chr15:132,355,655...132,361,435
JBrowse link
G SAG S-antigen visual arrestin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:133,704,975...133,741,844
Ensembl chr15:133,705,008...133,741,798
JBrowse link
G SNORC secondary ossification center associated regulator of chondrocyte maturation ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:133,323,562...133,330,253
Ensembl chr15:133,323,562...133,330,253
JBrowse link
G SP110 SP110 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:131,169,911...131,226,543
Ensembl chr15:131,169,917...131,226,544
JBrowse link
G SP140 SP140 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:131,225,305...131,292,172
Ensembl chr15:131,226,626...131,292,170
JBrowse link
G SPATA3 spermatogenesis associated 3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:131,742,405...131,762,293
Ensembl chr15:131,743,332...131,752,395
JBrowse link
G SPP2 secreted phosphoprotein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:134,282,786...134,309,610
Ensembl chr15:134,282,842...134,306,862
JBrowse link
G TEX44 testis expressed 44 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:132,266,149...132,267,612 JBrowse link
G TRPM8 transient receptor potential cation channel subfamily M member 8 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:134,185,316...134,267,973
Ensembl chr15:134,145,943...134,267,970
JBrowse link
G UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:133,968,693...134,049,029 JBrowse link
G USP40 ubiquitin specific peptidase 40 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr15:133,870,831...133,952,863
Ensembl chr15:133,870,834...133,952,863
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 ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS OMIM
ClinVar
PMID:10507728 PMID:15543146 PMID:18591390 PMID:20065546 PMID:21749365 More... NCBI chr10:51,817,697...51,820,147
Ensembl chr10:51,817,924...51,819,960
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...17,362,220
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...47,210,559
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 7:23,699,628...23,702,416
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 2:87,910,603...87,935,252
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...88,537,387
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 chr18:6,209,158...6,228,943
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 chr15:25,043,545...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...88,983,105
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 EMP2 epithelial membrane protein 2 ISO MouseDO NCBI chr 3:32,449,496...32,493,245
Ensembl chr 3:32,450,604...32,492,721
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...91,037,542
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 3:32,750,700...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 5:58,480,528...58,927,558
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 chr11:5,303,609...5,309,063
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...17,946,992
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...8,871,547
JBrowse link
placental site trophoblastic tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC3 glypican 3 ISO protein:increased expression:placenta, trophoblast cells (human) RGD PMID:20868507 RGD:243065141 NCBI chr  X:109,536,495...109,973,605
Ensembl chr  X:109,536,504...109,973,607
JBrowse link
polyhydramnios term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
JBrowse link
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 HYLS1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr 9:53,008,944...53,027,307
Ensembl chr 9:53,013,348...53,028,551
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:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19716085 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 2:103,567,602...103,661,070
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:28492532 PMID:30244526 PMID:31680349 NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111
JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Polyhydramnios ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr 9:53,018,878...53,028,605
Ensembl chr 9:53,018,883...53,028,560
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:28492532 PMID:31680349 More... 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 ClinVar Annotator: match by term: PMSE SYNDROME | ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17522105 PMID:17576681 PMID:20424326 More... NCBI chr12:15,191,793...15,222,709
Ensembl chr12:15,191,782...15,223,558
JBrowse link
postpartum depression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRD gamma-aminobutyric acid type A receptor subunit delta ISO MouseDO NCBI chr 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640
JBrowse link
G IL10 interleukin 10 ISO RGD PMID:17033197 RGD:1598630 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
G TPH1 tryptophan hydroxylase 1 ISO RGD PMID:15544576 RGD:1580465 NCBI chr 2:41,075,623...41,109,005
Ensembl chr 2:41,075,628...41,109,437
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...15,414,703
JBrowse link
G ACVR2B activin A receptor type 2B ISO protein:increased expression:placenta (human) RGD PMID:27176145 RGD:329853749 NCBI chr13:23,237,699...23,276,086
Ensembl chr13:23,237,699...23,267,373
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 8:1,627,062...1,710,650
JBrowse link
G AGT angiotensinogen ISO ClinVar Annotator: match by term: Preeclampsia, susceptibility to ClinVar PMID:1394429 PMID:7649545 PMID:7883995 PMID:8348146 PMID:8513325 More... NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
JBrowse link
G AKR1C1 aldo-keto reductase family 1, member C1 ISO mRNA:decreased expression:blood: RGD PMID:19681734 RGD:10053633 NCBI chr10:65,580,297...65,594,998
Ensembl chr10:65,576,464...65,678,248
JBrowse link
G AKR1C3 aldo-keto reductase family 1 member C3 treatment ISO RGD PMID:25876805 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...69,721,696
JBrowse link
G ALKBH5 alkB homolog 5, RNA demethylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:34995009 NCBI chr12:60,507,662...60,530,239
Ensembl chr12:60,507,667...60,529,733
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 APELA apelin receptor early endogenous ligand ISO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 MouseDO NCBI chr 8:53,703,735...53,736,989 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 2:77,342,156...77,356,837
JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression ISO associated with Fetal Growth Retardation; protein:increased expression:placenta, nucleus (human) RGD PMID:32529396 RGD:243065143 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349
JBrowse link
G ASB4 ankyrin repeat and SOCS box containing 4 ISO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 MouseDO NCBI chr 9:75,110,367...75,337,619
Ensembl chr 9:75,018,067...75,203,447
JBrowse link
G ATP2B1 ATPase plasma membrane Ca2+ transporting 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 5:92,935,688...93,061,406
Ensembl chr 5:92,935,694...93,061,405
JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653
JBrowse link
G ATP2B4 ATPase plasma membrane Ca2+ transporting 4 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 9:64,336,354...64,445,669
Ensembl chr 9:64,336,499...64,445,663
JBrowse link
G C3 complement C3 treatment ISO RGD PMID:23685261 RGD:7411624 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
JBrowse link
G CALB1 calbindin 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 4:46,701,276...46,723,548
Ensembl chr 4:46,701,045...46,725,197
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 4:19,505,701...19,514,406
JBrowse link
G CD274 CD274 molecule treatment ISO RGD PMID:27277012 RGD:40886269 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...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...111,789,709
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 CDKN1C cyclin dependent kinase inhibitor 1C ISO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 MouseDO NCBI chr 2:2,019,391...2,022,092
Ensembl chr 2:2,019,830...2,021,853
JBrowse link
G CEBPA CCAAT enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:34398343 NCBI chr 6:43,083,200...43,085,884
Ensembl chr 6:43,083,207...43,085,836
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...113,895,131
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 chr14:11,336,595...11,349,764
JBrowse link
G CMKLR1 chemerin chemokine-like receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34398343 NCBI chr14:42,420,166...42,468,080
Ensembl chr14:42,420,177...42,468,058
JBrowse link
G COMT catechol-O-methyltransferase ISO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 MouseDO NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
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 chr13:89,396,708...89,463,476
JBrowse link
G CREBBP CREB binding protein ISO mRNA:decreased expression:placenta (human) RGD PMID:33625689 RGD:153350159 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224
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 CUBN cubilin ISO associated with late term delivery; mRNA:decreased expression:placenta (human) RGD PMID:32682061 RGD:401901078 NCBI chr10:43,102,931...43,414,692
Ensembl chr10:43,102,946...43,414,758
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 CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO mRNA:increased expression:placenta (human)
associated with hypoxia; protein:increased expression:placenta (human)
RGD PMID:22871339 PMID:36477942 RGD:401901075 RGD:401901174 NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO mRNA:increased expression:placenta (human)
associated with hypoxia; protein:increased expression:placenta (human)
RGD PMID:22871339 PMID:36477942 RGD:401901075 RGD:401901174 NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,053,892...23,058,470
JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 ISO associated with hypoxia; protein:decreased expression:placenta (human)
mRNA:decreased expression:placenta (human)
RGD PMID:22871339 PMID:32682061 PMID:36477942 RGD:401901075 RGD:401901078 RGD:401901174 NCBI chr 2:44,375,432...44,394,122
Ensembl chr 2:44,375,520...44,396,334
JBrowse link
G DAB2IP DAB2 interacting protein ISO mRNA, protein:decreased expression:placenta (human) RGD PMID:25604087 RGD:11553571 NCBI chr 1:261,732,280...261,859,833
Ensembl chr 1:261,659,660...261,859,022
JBrowse link
G DDAH2 DDAH family member 2, ADMA-independent ISO CTD Direct Evidence: marker/mechanism CTD PMID:22285683 NCBI chr 7:23,838,993...23,842,514
Ensembl chr 7:23,838,996...23,842,516
JBrowse link
G DNAH8 dynein axonemal heavy chain 8 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 7:34,197,185...34,479,640
Ensembl chr 7:34,188,145...34,479,623
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 4:27,986,866...28,013,945
JBrowse link
G EBI3 Epstein-Barr virus induced 3 ameliorates ISO RGD PMID:31203154 RGD:213230155 NCBI chr 2:74,530,728...74,540,433
Ensembl chr 2:74,530,730...74,539,583
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 6:169,744,568...169,758,283
JBrowse link
G EIF3D eukaryotic translation initiation factor 3 subunit D ISO CTD Direct Evidence: marker/mechanism CTD PMID:34520790 NCBI chr 5:11,213,312...11,229,158
Ensembl chr 5:11,213,312...11,229,158
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 1:268,309,400...268,343,783
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...107,389,010
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 3:94,165,816...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 chr10:13,751,881...13,773,072
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 1:193,829,560...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 2:15,791,455...15,819,137
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 4:122,826,644...122,837,666
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 4:81,403,274...81,485,066
JBrowse link
G FABP4 fatty acid binding protein 4 ISO protein:increased expression:blood serum (human) RGD PMID:19573524 RGD:329845853 NCBI chr 4:55,096,400...55,101,209
Ensembl chr 4:55,096,404...55,101,896
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
Ensembl chr14:100,927,089...100,956,716
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...115,076,464
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO mRNA,protein:increased expression:placenta
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15472115 PMID:18679377 PMID:22262697 PMID:28628106 RGD:1582493 RGD:243048428 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264
JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO mRNA:increased expression:placenta RGD PMID:31991880 RGD:329961300 NCBI chr 2:77,076,566...77,079,751
Ensembl chr 2:77,076,566...77,079,759
JBrowse link
G GATA2 GATA binding protein 2 onset ISO RGD PMID:30659233 RGD:401850546 NCBI chr13:71,981,139...71,997,626
Ensembl chr13:71,984,067...71,997,619
JBrowse link
G GATM glycine amidinotransferase ISO mRNA:increased expression:placenta RGD PMID:31991880 RGD:329961300 NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,871
JBrowse link
G GC GC vitamin D binding protein ISO mRNA:decreased expression:placenta (human) RGD PMID:32682061 RGD:401901078 NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
JBrowse link
G GPX1 glutathione peroxidase 1 ISO protein:decreased expression:placenta
mRNA:decreased expression:placenta
RGD PMID:18852388 PMID:20303587 PMID:28705740 RGD:401827170 RGD:401827825 RGD:401827849 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433
JBrowse link
G GPX3 glutathione peroxidase 3 ISO protein:decreased expression:placenta
mRNA:decreased expression:placenta
RGD PMID:18852388 PMID:20303587 PMID:28705740 RGD:401827170 RGD:401827825 RGD:401827849 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
JBrowse link
G GPX4 glutathione peroxidase 4 ISO protein:decreased expression:placenta
mRNA:decreased expression:placenta
RGD PMID:18852388 PMID:20303587 RGD:401827170 RGD:401827849 NCBI chr 2:77,321,568...77,323,931
Ensembl chr 2:77,320,464...77,323,931
JBrowse link
G GSN gelsolin disease_progression ISO protein:decreased expression:blood plasma (human) RGD PMID:24239294 RGD:329337339 NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:chorionic villus (human) RGD PMID:22840297 RGD:155631283 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197494
G HNF1A HNF1 homeobox A susceptibility ISO associated with gestational diabetes;DNA:SNP:cd: p.I27L (rs1169288) (human) RGD PMID:31825269 RGD:329901812 NCBI chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328
JBrowse link
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 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 susceptibility ISO DNA:SNPs,haplotype: (rs2235543,rs846910) (human) RGD PMID:23659736 RGD:329901926 NCBI chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396
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 IDO1 indoleamine 2,3-dioxygenase 1 ISO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 MouseDO NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased expression:serum (human) RGD PMID:21126355 RGD:6906962
G IL6 interleukin 6 ameliorates ISO RGD PMID:31203154 RGD:213230155 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
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 ISCU iron-sulfur cluster assembly enzyme ISO mRNA:decreased expression:chorionic villus (human) RGD PMID:22840297 RGD:155631283 NCBI chr14:42,216,103...42,222,570
Ensembl chr14:42,216,111...42,222,711
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 chr15:86,947,240...87,030,364
JBrowse link
G ITGAM integrin subunit alpha M ISO DNA:missense mutations:CDS:p.M441K (rs1143680), p.T1000N (rs41321249) (human)
protein:increased expression:neutrophil (human)
associated with Fetal Growth Retardation;mRNA:decreased expression:placenta (human)
RGD PMID:18437152 PMID:32014817 PMID:33539617 RGD:329853770 RGD:329901659 RGD:329901825 NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,273,613
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912
JBrowse link
G ITPR2 inositol 1,4,5-trisphosphate receptor type 2 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 5:46,935,923...47,465,681
Ensembl chr 5:46,935,932...47,464,125
JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 7:29,835,922...29,901,305
Ensembl chr 7:29,835,922...29,901,309
JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 ISO protein:decreased expression:umbilical artery,umbilical vein (human) RGD PMID:23261940 RGD:329955574 NCBI chr 6:50,580,016...50,593,518
Ensembl chr 6:50,580,022...50,593,544
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
Ensembl chr 1:268,609,887...268,614,644
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...20,123,323
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 6:146,801,954...146,895,995
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 MIR126 microRNA mir-126 ISO miRNA:decreased expression:blood serum (human) RGD PMID:25017274 PMID:30659233 RGD:155882496 RGD:401850546
G MIR144 microRNA mir-144 ISO miRNA:decreased expression:blood serum (human) RGD PMID:25017274 RGD:155882496 NCBI chr12:45,088,958...45,089,033
Ensembl chr12:45,088,959...45,089,035
JBrowse link
G MIR148A microRNA mir-148a ameliorates ISO RGD PMID:31203154 RGD:213230155 NCBI chr18:46,415,213...46,415,280
Ensembl chr18:46,415,202...46,415,281
JBrowse link
G MIR152 microRNA mir-152 ISO miRNA:increased expression:placenta
miRNA:increased expression:blood serum (human)
RGD PMID:25017274 PMID:31114978 RGD:155882496 RGD:21066344 NCBI chr12:24,292,249...24,292,328
Ensembl chr12:24,292,251...24,292,336
JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:blood serum (human) RGD PMID:28700503 RGD:155882490 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G MIR15B microRNA mir-15b ISO miRNA:decreased expression:blood serum (human) RGD PMID:25017274 RGD:155882496 NCBI chr13:100,083,172...100,083,269
Ensembl chr13:100,083,172...100,083,269
JBrowse link
G MIR193A microRNA mir-193a ISO miRNA:increased expression:blood serum (human) RGD PMID:25017274 RGD:155882496 NCBI chr12:43,336,969...43,337,048
Ensembl chr12:43,336,969...43,337,048
JBrowse link
G MIR204 microRNA mir-204 ISO miRNA:increased expression:blood serum (human) RGD PMID:25017274 RGD:155882496 NCBI chr 1:224,065,494...224,065,602
Ensembl chr 1:224,065,494...224,065,602
JBrowse link
G MIR216-1 microRNA mir-216-1 ameliorates ISO RGD PMID:31203154 RGD:213230155 NCBI chr 3:85,334,523...85,334,627
Ensembl chr 3:85,334,523...85,334,627
JBrowse link
G MIR32 microRNA mir-32 ISO miRNA:increased expression:blood serum (human) RGD PMID:25017274 RGD:155882496 NCBI chr 1:250,115,904...250,115,973
Ensembl chr 1:250,115,904...250,115,973
JBrowse link
G MIR335 microRNA mir-335 ISO miRNA:decreased expression:blood serum (human) RGD PMID:25017274 RGD:155882496 NCBI chr18:18,341,580...18,341,659
Ensembl chr18:18,341,568...18,341,659
JBrowse link
G MIR423 microRNA mir-423 ISO miRNA:increased expression:plasma RGD PMID:30587375 RGD:158014896 NCBI chr12:46,211,525...46,211,604
Ensembl chr12:46,211,525...46,211,611
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 6:30,058,595...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 chr17:48,179,671...48,186,788
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 chr18:6,209,158...6,228,943
JBrowse link
G NOTCH2 notch receptor 2 ISO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 MouseDO NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195
JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 exacerbates ISO mRNA, protein:increased expression:placenta (human)
mRNA:altered expression:placenta, adipose tissue (human)
RGD PMID:20655109 PMID:28352810 RGD:401842369 RGD:401850787 NCBI chr 2:15,315,283...15,336,785
Ensembl chr 2:15,315,282...15,334,820
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Preeclampsia ClinVar PMID:12464997 PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 More... NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO mRNA:increased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr13:66,038,669...66,045,478 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 chr15:140,336,258...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...104,420,953
JBrowse link
G PEG10 paternally expressed 10 onset ISO mRNA, protein:increased expression:placenta (human)
mRNA, protein:decreased expression:placenta (human)
RGD PMID:22137777 PMID:25526181 PMID:37464405 RGD:401851069 RGD:401851073 RGD:401851074 NCBI chr 9:74,474,121...74,486,983
Ensembl chr 9:74,474,107...74,486,979
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
Ensembl chr 7:98,148,994...98,162,741
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 7:59,405,053...59,450,105
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:15562025 PMID:34995009 RGD:1580687 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944
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 chr15:25,043,545...25,056,595
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 MouseDO NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 disease_progression ISO mRNA:decreased expression:placenta (human) RGD PMID:27746364 RGD:155260325 NCBI chr 6:96,769,862...96,847,136
Ensembl chr 6:96,770,253...96,847,125
JBrowse link
G RARRES2 retinoic acid receptor responder 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34398343 NCBI chr18:55,903,693...55,906,976
Ensembl chr18:55,903,699...55,906,945
JBrowse link
G RBP4 retinol binding protein 4 disease_progression ISO protein:decreased expression:umbilical cord,blood serum (human)
protein:increased expression:blood serum (human)
RGD PMID:21173508 PMID:21299359 RGD:329845578 RGD:329845866 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO mRNA,protein:increased expression:placenta RGD PMID:22262697 RGD:243048428 NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481
JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO mRNA,protein:increased expression:placenta RGD PMID:22262697 RGD:243048428 NCBI chr 9:52,083,757...52,097,784
Ensembl chr 9:52,083,760...52,097,736
JBrowse link
G RYR1 ryanodine receptor 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
JBrowse link
G RYR2 ryanodine receptor 2 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063
JBrowse link
G RYR3 ryanodine receptor 3 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491
JBrowse link
G S100G S100 calcium binding protein G ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr  X:13,107,611...13,114,213
Ensembl chr  X:13,107,402...13,114,213
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 7:115,583,043...115,614,645
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...8,871,547
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...47,942,285
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO mRNA:decreased expression:chorionic villus (human) RGD PMID:22840297 RGD:155631283 NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867
JBrowse link
G STOX1 storkhead box 1 no_association ISO human fetally expressed gene in a mouse model
DNA:missense mutation:cds:p.Y153H (human)
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...42,106,296
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 chr15:46,969,006...46,979,291
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...258,058,970
JBrowse link
G TNF tumor necrosis factor ameliorates ISO RGD PMID:15901845 PMID:31203154 RGD:1580314 RGD:213230155 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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...72,231,147
JBrowse link
G TRPV5 transient receptor potential cation channel subfamily V member 5 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr18:7,285,186...7,341,965
Ensembl chr18:7,284,589...7,318,392
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...68,559,674
JBrowse link
G VDR vitamin D receptor ISO associated with Premature Birth; mRNA:increased expression:placenta (human)
protein:decreased expression:placenta (human)
mRNA:decreased expression:placenta (human)
RGD PMID:22871339 PMID:32682061 PMID:36477942 RGD:401901075 RGD:401901078 RGD:401901174 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA:decreased expression:chorionic villus (human) RGD PMID:16517614 PMID:22840297 RGD:155631283 RGD:1580566 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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 ClinVar Annotator: match by term: Preeclampsia/eclampsia 4 OMIM
ClinVar
PMID:15806103 PMID:17325670 PMID:33116287 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 ClinVar Annotator: match by term: Preeclampsia/eclampsia 5 OMIM
ClinVar
PMID:22437503 PMID:24828501 PMID:25741868 PMID:28492532 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 chr12:14,649,044...14,723,293
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...64,822,658
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 6:51,372,292...51,375,330
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 1:268,309,400...268,343,783
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 8:101,278,885...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 5:64,129,679...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 8:68,326,299...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 chr13:66,445,992...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...256,780,760
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 4:117,496,920...117,511,222
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...38,761,366
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 9:67,400,728...67,405,378
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...15,414,703
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:12,093,242...12,151,286
JBrowse link
G AGT angiotensinogen ISO RGD PMID:17977916 RGD:8548898 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
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 GPX3 glutathione peroxidase 3 ISO protein:increased expression:plasma RGD PMID:8244188 RGD:401827853 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
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 ClinVar Annotator: match by term: Hypertension, pregnancy-induced, susceptibility to ClinVar PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 More... NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
JBrowse link
G RBP4 retinol binding protein 4 ISO protein:increased expression, decreased expression:blood serum, umbilical cord blood (human) RGD PMID:19708176 RGD:329849109 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
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 7:23,699,628...23,702,416
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 chr18:8,957,991...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 COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:8364588 PMID:25741868 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
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 FTO FTO alpha-ketoglutarate dependent dioxygenase ISO DNA:SNP: :rs9939609 (human) RGD PMID:27768255 RGD:329845883 NCBI chr 6:31,177,112...31,564,674
Ensembl chr 6:31,174,569...31,564,718
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 9:91,506,421...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...29,445,739
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 chr14:97,102,823...97,108,083
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 chr17:48,179,671...48,186,788
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800
JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,959...9,162
Ensembl chr MT:8,959...9,162
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055
JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890
JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876
JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,653...10,998
Ensembl chr MT:10,653...10,998
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,359...12,736
Ensembl chr MT:11,359...12,736
JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755
JBrowse link
G ND2 NADH dehydrogenase subunit 2 ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,087...6,128
Ensembl chr MT:5,087...6,128
JBrowse link
G ND4L NADH dehydrogenase subunit 4L ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,069...11,365
Ensembl chr MT:11,069...11,365
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
Ensembl chr 7:98,148,994...98,162,741
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L ISO ClinVar Annotator: match by term: Premature birth ClinVar PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 More... NCBI chr12:59,217,267...59,256,896
Ensembl chr12:59,201,556...59,256,829
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 9:127,850,015...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 1:7,679,352...7,689,560
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 7:23,699,628...23,702,416
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 7:23,886,138...23,899,738
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...40,800,026
JBrowse link
G GJB2 gap junction protein beta 2 ISO RGD PMID:8612484 RGD:11568660 NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
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 9:91,506,421...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 ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 treatment ISO associated with hypertension RGD PMID:30127255 RGD:401793709 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
JBrowse link
G ACE2 angiotensin converting enzyme 2 treatment ISO associated with maternal adenine induced chronic kidney disease RGD PMID:32604820 RGD:401793718 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,093,242...12,151,286
JBrowse link
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 1:113,289,209...113,412,798
JBrowse link
G ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide ISO mRNA:decreased expression:liver (rat) RGD PMID:22781937 RGD:405100969 NCBI chr 8:121,225,485...121,259,262
NCBI chr  X:98,582,002...98,583,002
Ensembl chr 8:121,225,656...121,261,746
JBrowse link
G ADORA1 adenosine A1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19092996 NCBI chr 9:113,835,279...113,875,899
Ensembl chr 9:113,835,921...113,872,365
JBrowse link
G AGT angiotensinogen treatment ISO associated with maternal adenine induced chronic kidney disease RGD PMID:32604820 RGD:401793718 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
JBrowse link
G AGTR1 angiotensin II receptor type 1 treatment ISO associated with hypertension RGD PMID:30127255 RGD:401793709 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105
JBrowse link
G AGTR2 angiotensin II receptor type 2 treatment ISO associated with maternal adenine induced chronic kidney disease RGD PMID:32604820 RGD:401793718 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388
JBrowse link
G AHR aryl hydrocarbon receptor treatment ISO associated with hypertension RGD PMID:30127255 PMID:31489946 RGD:401793709 RGD:401793758 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
JBrowse link
G AHRR aryl hydrocarbon receptor repressor treatment ISO associated with hypertension
associated with maternal adenine induced chronic kidney disease
RGD PMID:30127255 PMID:31489946 PMID:32604820 RGD:401793709 RGD:401793718 RGD:401793758 NCBI chr16:79,730,920...79,810,183
Ensembl chr16:79,730,926...79,810,188
JBrowse link
G ANK3 ankyrin 3 susceptibility ISO DNA:SNP: : rs9804190(human) RGD PMID:27824361 RGD:153344561 NCBI chr14:63,416,154...63,809,220 JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator treatment ISO RGD PMID:31489946 RGD:401793758 NCBI chr 4:98,333,431...98,390,012
Ensembl chr 4:98,333,459...98,389,457
JBrowse link
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:32937126 NCBI chr17:37,542,615...37,718,787
Ensembl chr17:37,545,474...37,718,779
JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177254 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 treatment ISO associated with maternal adenine induced chronic kidney disease RGD PMID:32604820 RGD:401793718 NCBI chr  X:36,271,154...36,300,240
Ensembl chr  X:36,271,222...36,304,181
JBrowse link
G BDNF brain derived neurotrophic factor sexual_dimorphism ISO mRNA:altered expression:hippocampus|hypothalamus (rat) RGD PMID:26180184 RGD:11074449 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
JBrowse link
G BMP2 bone morphogenetic protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:29800642 NCBI chr17:15,750,487...15,762,982
Ensembl chr17:15,749,835...15,761,195
JBrowse link
G CBS cystathionine beta-synthase sexual_dimorphism ISO mRNA:altered expression:hippocampus|hypothalamus (rat) RGD PMID:26180184 RGD:11074449 NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258935 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO associated with morphine withdrawal disorder RGD PMID:33915201 RGD:401959752 NCBI chr15:110,705,548...110,773,037
Ensembl chr15:110,705,496...110,771,728
JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 sexual_dimorphism ISO mRNA:altered expr:brain (rat) RGD PMID:29990678 RGD:401976282 NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,020...17,306,285
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 treatment ISO associated with hypertension RGD PMID:30127255 PMID:31489946 RGD:401793709 RGD:401793758 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15570195 NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,642
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO mRNA:increased expression:liver (rat) RGD PMID:22781937 RGD:405100969 NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
JBrowse link
G EGR1 early growth response 1 ISO protein:decreased expression:hippocampus (rat) RGD PMID:26180184 RGD:11074449 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19014962 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
JBrowse link
G FOSB FosB proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26411935 NCBI chr 6:51,836,780...51,844,531
Ensembl chr 6:51,837,719...51,844,529
JBrowse link
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
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor treatment ISO associated with maternal adenine induced chronic kidney disease RGD PMID:32604820 RGD:401793718 NCBI chr 1:7,527,566...7,542,110
Ensembl chr 1:7,527,861...7,528,838
JBrowse link
G MAT2A methionine adenosyltransferase 2A sexual_dimorphism ISO mRNA:altered expression:hippocampus|hypothalamus (rat) RGD PMID:26180184 RGD:11074449 NCBI chr 3:59,220,203...59,225,097
Ensembl chr 3:59,218,688...59,225,249
JBrowse link
G MTHFR methylenetetrahydrofolate reductase sexual_dimorphism ISO mRNA:altered expression:hippocampus|hypothalamus (rat) RGD PMID:26180184 RGD:11074449 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase sexual_dimorphism ISO mRNA:altered expression:hippocampus|hypothalamus (rat) RGD PMID:26180184 RGD:11074449 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763
JBrowse link
G MYOD1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr 2:41,422,522...41,424,236
Ensembl chr 2:41,415,775...41,424,435
JBrowse link
G NOS1 nitric oxide synthase 1 treatment ISO RGD PMID:31489946 RGD:401793758 NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO RGD PMID:31489946 RGD:401793758 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
JBrowse link
G NOTCH2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32715474 NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 sexual_dimorphism ISO mRNA:altered expression:hippocampus|hypothalamus (rat)
mRNA:altered expr:brain (rat)
associated with stress-related disorder; mRNA:decreased expression:hippocampus (rat)
associated with chronic stress, female fetus; protein:decreased expression:prefrontal cortex (rat)
associated with prenatal alcohol exposure, female; mRNA:decreased expression:hippocampus (rat)
RGD PMID:16925589 PMID:26180184 PMID:26342748 PMID:29990678 PMID:30367959 RGD:11074449 RGD:401965481 RGD:401966864 RGD:401976282 RGD:401976289 NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451
JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 sexual_dimorphism ISO mRNA:altered expression:hippocampus|hypothalamus (rat)
mRNA:altered expr:brain (rat)
associated with stress-related disorder; mRNA:decreased expression:hippocampus (rat)
associated with females; mRNA:decreased expression:hippocampus (rat)
associated with chronic stress, female fetus; protein:increased expression:hippocampus, amygdala (rat)
RGD PMID:16925589 PMID:23579081 PMID:26180184 PMID:26342748 PMID:29990678 RGD:11074449 RGD:401965481 RGD:401976282 RGD:401976289 RGD:401976414 NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,312,234...80,668,412
JBrowse link
G NRGN neurogranin ISO RGD PMID:17579784 RGD:9835426 NCBI chr 9:51,967,313...51,977,197
Ensembl chr 9:51,969,823...51,977,228
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18768699 NCBI chr13:66,038,669...66,045,478 JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25463530 PMID:28396702 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha treatment ISO RGD PMID:31489946 RGD:401793758 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239
JBrowse link
G REN renin treatment ISO associated with hypertension
associated with maternal adenine induced chronic kidney disease
RGD PMID:30127255 PMID:32604820 RGD:401793709 RGD:401793718 NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,658
JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15451042 NCBI chr10:32,160,767...32,163,540
Ensembl chr10:32,160,822...32,164,718
JBrowse link
G SLC6A4 solute carrier family 6 member 4 sexual_dimorphism ISO DNA:altered methylation:hypothalamus (rat) RGD PMID:26180184 RGD:11074449 NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378
JBrowse link
Prenatal Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACHE acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14657522 NCBI chr 3:8,732,451...8,738,274
Ensembl chr 3:8,732,441...8,738,605
JBrowse link
G ATP7A ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:25456742 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048
JBrowse link
G LOX lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20045017 NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594
JBrowse link
G LOXL1 lysyl oxidase like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20045017 NCBI chr 7:59,481,410...59,505,161
Ensembl chr 7:59,481,412...59,505,149
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24075420 NCBI chr13:66,038,669...66,045,478 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...17,362,220
JBrowse link
G ROCK1 Rho associated coiled-coil containing protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18956198 NCBI chr 6:106,163,899...106,314,998
Ensembl chr 6:106,163,989...106,314,944
JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18956198 NCBI chr 3:125,353,063...125,493,368
Ensembl chr 3:125,352,920...125,493,362
JBrowse link
G SLC39A4 solute carrier family 39 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17483098 NCBI chr 4:372,681...378,519
Ensembl chr 4:372,660...378,516
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...47,210,559
JBrowse link
G YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 6:105,505,944...105,600,694
Ensembl chr 6:105,505,479...105,600,687
JBrowse link
Preterm Intraventricular Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNOT1 CCR4-NOT transcription complex subunit 1 ISO ClinVar Annotator: match by term: Preterm intraventricular hemorrhage ClinVar PMID:25741868 NCBI chr 6:20,271,593...20,372,300
Ensembl chr 6:20,271,596...20,372,245
JBrowse link
G GSN gelsolin ISO protein:decreased expression:blood plasma (human) RGD PMID:28755273 RGD:329337382 NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848
JBrowse link
G SEMA6B semaphorin 6B ISO ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage ClinVar PMID:31474318 NCBI chr 2:74,262,303...74,296,386
Ensembl chr 2:74,258,439...74,296,385
JBrowse link
preterm premature rupture of the membranes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:19012190 RGD:11340215 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Preterm premature rupture of the membranes ClinVar NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
JBrowse link
G MMP8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Preterm premature rupture of the membranes ClinVar PMID:15367487 NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947
JBrowse link
G SERPINH1 serpin family H member 1 susceptibility ISO ClinVar Annotator: match by term: Preterm premature rupture of the membranes ClinVar
OMIM
PMID:16938879 PMID:25741868 PMID:28492532 PMID:32161841 NCBI chr 9:9,782,939...9,794,485
Ensembl chr 9:9,783,042...9,794,483
JBrowse link
G TFPI tissue factor pathway inhibitor ISO protein:decreased expression:plasma RGD PMID:19012190 RGD:11340215 NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905
JBrowse link
Puerperal Disorders 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:18926768 NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710
JBrowse link
Seckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPJ centromere protein J ISO ClinVar Annotator: match by term: Seckel syndrome 4 OMIM
ClinVar
PMID:15793586 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 More... NCBI chr11:289,660...357,920
Ensembl chr11:289,653...355,581
JBrowse link
G RNF17 ring finger protein 17 ISO ClinVar Annotator: match by term: Seckel syndrome 4 ClinVar PMID:18414213 PMID:20301772 PMID:20522431 PMID:24402816 PMID:25741868 More... NCBI chr11:154,457...281,039
Ensembl chr11:154,458...281,032
JBrowse link
severe pre-eclampsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 severity ISO mRNA:increased expression:decidua basalis (human) RGD PMID:24331737 RGD:329845529 NCBI chr15:64,749,478...64,891,653
Ensembl chr15:64,750,796...64,891,544
JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 susceptibility ISO DNA:polymorphism::p.D148E (human) RGD PMID:24619222 RGD:401850778 NCBI chr 7:78,451,845...78,454,938
Ensembl chr 7:78,451,851...78,454,938
JBrowse link
G COL4A2 collagen type IV alpha 2 chain severity ISO mRNA:increased expression:decidua basalis (human) RGD PMID:24331737 RGD:329845529 NCBI chr11:76,996,885...77,161,617
Ensembl chr11:76,997,516...77,161,614
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 severity ISO mRNA:increased expression:decidua basalis (human) RGD PMID:24331737 RGD:329845529 NCBI chr 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759
JBrowse link
G ERAP2 endoplasmic reticulum aminopeptidase 2 severity ISO mRNA:increased expression:decidua basalis (human) RGD PMID:24331737 RGD:329845529 NCBI chr 2:103,510,425...103,563,482
Ensembl chr 2:103,510,441...103,564,437
JBrowse link
G GPX3 glutathione peroxidase 3 ISO protein:increased expression:plasma RGD PMID:8476834 RGD:401827852 NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase severity ISO mRNA:increased expression:decidua basalis (human) RGD PMID:24331737 RGD:329845529 NCBI chr 2:103,568,366...103,659,589
Ensembl chr 2:103,567,602...103,661,070
JBrowse link
G MIR155 microRNA mir-155 severity ISO miRNA:increased expression:blood serum (human) RGD PMID:31487655 RGD:155582220 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G RBP4 retinol binding protein 4 severity ISO protein:increased expression:blood serum (human)
protein:decreased expression:blood serum (human)
RGD PMID:19573524 PMID:27279411 PMID:31949674 RGD:329845847 RGD:329845853 RGD:329845859 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
JBrowse link
Silver-Russell Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGF2 insulin like growth factor 2 ISO ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3 OMIM
ClinVar
PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 More... NCBI chr 2:1,469,183...1,496,417 JBrowse link
Spontaneous Abortions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE2 angiotensin converting enzyme 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,093,242...12,151,286
JBrowse link
G ACKR4 atypical chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:73,773,862...73,777,770
Ensembl chr13:73,772,392...73,777,805
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26593447 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:22266326 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 4:98,333,431...98,390,012
Ensembl chr 4:98,333,459...98,389,457
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO associated with Pregnancy in Diabetics;protein:decreased expression:serum RGD PMID:17924206 RGD:2307065 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CD163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
JBrowse link
G CD164 CD164 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:75,441,568...75,458,140
Ensembl chr 1:75,441,575...75,458,145
JBrowse link
G CD226 CD226 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:152,872,878...152,977,162
Ensembl chr 1:152,882,762...152,979,845
JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695
JBrowse link
G CD69 CD69 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:62,078,134...62,084,961
Ensembl chr 5:62,077,988...62,085,900
JBrowse link
G CD7 CD7 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:740,345...744,876 JBrowse link
G CD82 CD82 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20075392 NCBI chr 2:17,751,153...17,803,172
Ensembl chr 2:17,750,660...17,803,126
JBrowse link
G CD84 CD84 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 4:89,932,020...89,980,476
Ensembl chr 4:89,932,229...89,969,665
JBrowse link
G CD8A CD8 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760
JBrowse link
G CEACAM1 CEA cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:49,437,308...49,460,614 JBrowse link
G CHIA chitinase acidic ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 4:109,035,323...109,046,499
Ensembl chr 4:109,035,326...109,046,499
JBrowse link
G COL13A1 collagen type XIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:72,786,780...72,953,093
Ensembl chr14:72,787,303...72,953,095
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397
JBrowse link
G COL4A6 collagen type IV alpha 6 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr  X:88,634,925...88,750,938
Ensembl chr  X:88,634,930...88,957,416
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111
JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191
JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709
JBrowse link
G COL9A2 collagen type IX alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:96,065,282...96,081,547 JBrowse link
G CRISP3 cysteine-rich secretory protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 7:43,777,035...43,804,624
Ensembl chr 7:43,777,061...43,804,549
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:72,040,854...72,242,269
Ensembl chr15:72,141,621...72,233,832
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19022366 PMID:26593447 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363
JBrowse link
G DHFR dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:89,230,660...89,255,830 JBrowse link
G ECM1 extracellular matrix protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 4:98,615,776...98,633,081
Ensembl chr 4:98,615,778...98,621,836
JBrowse link
G ECM2 extracellular matrix protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:42,205,246...42,243,746
Ensembl chr 3:42,203,171...42,243,547
JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr12:18,474,367...18,514,993
Ensembl chr12:18,474,097...18,517,479
JBrowse link
G EMP1 epithelial membrane protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:59,245,317...59,267,466
Ensembl chr 5:59,244,691...59,268,025
JBrowse link
G F11 coagulation factor XI ISO protein:increased activity:blood: RGD PMID:25517908 RGD:11041767 NCBI chr17:9,045,990...9,073,552
Ensembl chr17:9,046,002...9,073,520
JBrowse link
G F12 coagulation factor XII ISO protein:decreased activity: : RGD PMID:24597288 RGD:11041799 NCBI chr 2:80,527,451...80,544,835
Ensembl chr 2:80,527,446...80,544,828
JBrowse link
G F13A1 coagulation factor XIII A chain ISO RGD PMID:12933578 RGD:10450744 NCBI chr 7:3,751,290...3,900,797
Ensembl chr 7:3,751,292...3,900,762
JBrowse link
G F2 coagulation factor II, thrombin ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 ClinVar PMID:2222810 PMID:2429850 PMID:6305407 PMID:8696333 PMID:8896550 More... NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:12579195 RGD:1300308 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666
JBrowse link
G FETUB fetuin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:124,480,456...124,494,197
Ensembl chr13:124,460,272...124,494,196
JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,882...122,277,750
JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:22,940,491...22,955,277
Ensembl chr17:22,940,492...22,954,424
JBrowse link
G FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014
JBrowse link
G FST follistatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr16:32,806,341...32,811,382
Ensembl chr16:32,805,932...32,811,421
JBrowse link
G GLS glutaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:95,513,414...95,606,029
Ensembl chr15:95,513,446...95,598,311
JBrowse link
G HABP2 hyaluronan binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:123,893,990...123,929,445
Ensembl chr14:123,893,996...123,932,961
JBrowse link
G HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:20,269,468...20,271,349
Ensembl chr12:20,269,056...20,271,548
JBrowse link
G IFI35 interferon induced protein 35 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:19,879,386...19,890,330
Ensembl chr12:19,879,387...19,890,314
JBrowse link
G IFI44 interferon induced protein 44 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:134,634,679...134,649,857
Ensembl chr 6:134,633,615...134,650,203
JBrowse link
G IFI6 interferon alpha inducible protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:84,852,782...84,858,072
Ensembl chr 6:84,852,793...84,857,982
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr18:50,018,487...50,022,799
Ensembl chr18:50,018,487...50,022,799
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:18,352,884...18,357,225
Ensembl chr 5:18,352,400...18,357,225
JBrowse link
G IL11 interleukin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:59,540,482...59,544,909
Ensembl chr 6:59,541,213...59,544,896
JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929
JBrowse link
G IL16 interleukin 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 7:49,973,937...50,102,346
Ensembl chr 7:49,973,938...50,102,346
JBrowse link
G IL20RA interleukin 20 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:27,137,545...27,172,341
Ensembl chr 1:27,137,558...27,172,720
JBrowse link
G IL24 interleukin 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:67,525,246...67,532,407
Ensembl chr 9:67,525,557...67,530,738
JBrowse link
G IL5RA interleukin 5 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:59,651,184...59,692,211
Ensembl chr13:59,652,271...59,690,176
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G IL9 interleukin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:138,048,943...138,052,588
Ensembl chr 2:138,048,943...138,052,588
JBrowse link
G INHA inhibin subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006
JBrowse link
G ITGA2 integrin subunit alpha 2 ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse) RGD PMID:19321657 RGD:2307421 NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103
JBrowse link
G ITGB4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611
JBrowse link
G ITGB6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:67,041,516...67,175,409
Ensembl chr15:67,041,522...67,175,234
JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17989398 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
JBrowse link
G KLK10 kallikrein related peptidase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:55,673,508...55,677,725
Ensembl chr 6:55,673,439...55,677,725
JBrowse link
G LAMA4 laminin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365
JBrowse link
G LGALS3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:184,478,639...184,496,155
Ensembl chr 1:184,478,710...184,497,951
JBrowse link
G LIF LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:47,221,540...47,239,513
Ensembl chr14:47,221,560...47,238,749
JBrowse link
G LOC100623720 collagen alpha-1(VI) chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642
G LOC110261636 serpin B3-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:158,073,431...158,079,267 JBrowse link
G MAP2 microtubule associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:112,156,578...112,462,932
Ensembl chr15:112,236,119...112,462,929
JBrowse link
G MAPRE3 microtubule associated protein RP/EB family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:112,084,467...112,136,079
Ensembl chr 3:112,084,469...112,136,061
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:polymorphisms:multiple: RGD PMID:18927129 RGD:12910825 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:179,478,464...179,479,804
Ensembl chr 1:179,477,992...179,479,801
JBrowse link
G MGP matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:57,665,272...57,669,360
Ensembl chr 5:57,665,248...57,669,764
JBrowse link
G MMP11 matrix metallopeptidase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:49,907,684...49,917,494
Ensembl chr14:49,907,687...49,912,617
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679
JBrowse link
G MMP15 matrix metallopeptidase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:19,890,867...19,912,941
Ensembl chr 6:19,891,107...19,912,913
JBrowse link
G MMP19 matrix metallopeptidase 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:21,279,514...21,285,943
Ensembl chr 5:21,280,130...21,285,774
JBrowse link
G MMP7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080
JBrowse link
G MUC4 mucin 4, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:134,192,412...134,248,435 JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591
JBrowse link
G PAEP progestagen associated endometrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642
G PGF placental growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741
JBrowse link
G PRLR prolactin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr16:20,637,568...20,655,881
Ensembl chr16:20,618,875...20,810,140
JBrowse link
G PTGIS prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:51,153,151...51,200,515
Ensembl chr17:51,153,154...51,200,300
JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415
JBrowse link
G RBP4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
JBrowse link
G SDF2L1 stromal cell derived factor 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:50,249,607...50,251,636
Ensembl chr14:50,246,710...50,251,642
JBrowse link
G SPAG5 sperm associated antigen 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:44,827,947...44,848,527
Ensembl chr12:44,827,949...44,848,566
JBrowse link
G SST somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:125,337,560...125,338,742
Ensembl chr13:125,337,418...125,338,850
JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
JBrowse link
G TGFBI transforming growth factor beta induced ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581
JBrowse link
G TNFSF10 TNF superfamily member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:111,021,952...111,103,060
Ensembl chr13:110,983,298...111,038,324
JBrowse link
G TNFSF13 TNF superfamily member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:52,853,646...52,857,033
Ensembl chr12:52,853,904...52,857,029
JBrowse link
G TNR tenascin R ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:117,365,930...117,790,332
Ensembl chr 9:117,373,545...117,771,224
JBrowse link
G TRAF1 TNF receptor associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:260,948,191...260,973,978
Ensembl chr 1:260,949,111...260,973,709
JBrowse link
Threatened Abortion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIBF1 progesterone immunomodulatory binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15760377 NCBI chr11:45,076,046...45,362,708
Ensembl chr11:45,076,062...45,362,887
JBrowse link
trichohepatoenteric syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NELFE negative elongation factor complex member E ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar NCBI chr 7:24,040,525...24,046,932
Ensembl chr 7:24,040,525...24,047,025
JBrowse link
G SKIC2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar PMID:16199547 PMID:22444670 PMID:25741868 PMID:27050310 PMID:28492532 More... NCBI chr 7:24,047,000...24,057,621
Ensembl chr 7:24,047,010...24,057,621
JBrowse link
G SKIC3 SKI3 subunit of superkiller complex ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar PMID:9536098 PMID:17576681 PMID:20176027 PMID:21120949 PMID:24033266 More... NCBI chr 2:102,079,675...102,164,020
Ensembl chr 2:102,079,685...102,163,938
JBrowse link
trichohepatoenteric syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGK acylglycerol kinase ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 ClinVar PMID:22284826 PMID:23266196 PMID:24088041 PMID:25208612 PMID:25326635 More... NCBI chr18:8,263,761...8,369,060
Ensembl chr18:8,263,896...8,368,972
JBrowse link
G SKIC3 SKI3 subunit of superkiller complex ISO ClinVar Annotator: match by term: SKIC3-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 OMIM
ClinVar
PMID:16199547 PMID:20176027 PMID:21120949 PMID:23326254 PMID:25326635 More... NCBI chr 2:102,079,675...102,164,020
Ensembl chr 2:102,079,685...102,163,938
JBrowse link
trichohepatoenteric syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SKIC2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 OMIM
ClinVar
PMID:16199547 PMID:22444670 PMID:24033266 PMID:25326635 PMID:25714577 More... NCBI chr 7:24,047,000...24,057,621
Ensembl chr 7:24,047,010...24,057,621
JBrowse link
trophoblastic neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANG angiogenin ISO protein:increased expression:serum RGD PMID:12705339 RGD:2325706 NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138
JBrowse link
Wiedemann-Rautenstrauch syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome ClinVar PMID:16786509 PMID:28492532 PMID:29101475 PMID:30450527 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: POLR3A-related disorders | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome OMIM
ClinVar
PMID:614258 PMID:12605447 PMID:16007586 PMID:16199547 PMID:19938095 More... NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,413,099...80,471,697
JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome ClinVar PMID:4076251 PMID:16199547 PMID:16233902 PMID:18348262 PMID:19648921 More... NCBI chr12:1,060,028...1,064,808
Ensembl chr12:1,060,570...1,064,805
JBrowse link
X-linked Microhydranencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPKOW G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: Holoprosencephaly with fetal akinesia/hypokinesia sequence ClinVar NCBI chr  X:43,177,264...43,192,021
Ensembl chr  X:43,177,272...43,191,830
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      Urogenital Diseases 4676
        Female Urogenital Diseases and Pregnancy Complications 2328
          Pregnancy Complications 741
            Acute Fatty Liver of Pregnancy 0
            Cardiovascular Pregnancy Complications + 4
            Diabetic Embryopathy 1
            Fetal Death + 15
            Fetal Diseases + 337
            Hematologic Pregnancy Complications 0
            Maternal Death 0
            Maternal Phenylketonuria 2
            Morning Sickness + 1
            Neoplastic Pregnancy Complications + 19
            Nuchal Cord 0
            Obstetric Labor Complications + 48
            Pelvic Floor Disorders 0
            Perinatal Death 9
            Pregnancy Complications, Infectious + 2
            Pregnancy in Diabetics + 61
            Pregnancy-Induced Hypertension + 156
            Prenatal Injuries + 55
            Prolonged Pregnancy 0
            Pruritic Urticarial Papules Plaques of Pregnancy 0
            Puerperal Disorders + 9
            Spontaneous Abortions + 146
            Twinning due to Superfetation 0
            chorea gravidarum 0
            ectopic pregnancy + 1
            familial gestational hyperthyroidism 2
            gestational diabetes + 108
            intrahepatic cholestasis of pregnancy + 7
            oligohydramnios + 13
            pemphigoid gestationis 0
            placenta disease + 58
            polyhydramnios + 13
paths to the root