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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Pregnancy Complications
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Accession:DOID:9004702 term browser browse the term
Definition:Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases.
Synonyms:exact_synonym: Pregnancy Complication;   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 CLEC4M C-type lectin domain family 4 member M susceptibility ISO associated with hepatitis B; DNA:: RGD PMID:22338216 RGD:39938980 NCBI chr19:7,763,243...7,769,605
Ensembl chr19:7,763,210...7,769,605 		JBrowse link
G EPO erythropoietin IEP associated with Pregnancy in Diabetes;protein:increased expression:amniotic fluid RGD PMID:15502930 RGD:2313897 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G FAAH fatty acid amide hydrolase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16886060 NCBI chr 1:46,394,317...46,413,845
Ensembl chr 1:46,394,317...46,413,848 		JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11932298 NCBI chr16:67,429,801...67,437,553
Ensembl chr16:67,430,652...67,437,553 		JBrowse link
G JAK2 Janus kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19636672 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KLRK1 killer cell lectin like receptor K1 treatment ISO associated with Animal Toxoplasmosis RGD PMID:28438315 RGD:39128164 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874 		JBrowse link
G NCOA2 nuclear receptor coactivator 2 ISO mRNA:decreased expression:uterus (rat) RGD PMID:20660062 RGD:5688349 NCBI chr 8:70,109,782...70,456,446
Ensembl chr 8:70,109,782...70,403,808 		JBrowse link
G NFKBIA NFKB inhibitor alpha susceptibility IAGP associated with Cytomegalovirus Infections;DNA:SNP:promoter: -94ins/delATTG (human) RGD PMID:25792174 RGD:11342310 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G SERPINE1 serpin family E member 1 IAGP DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:10909993 RGD:13208506 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bowen-Conradi syndrome
OMIM:211180
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:19463982 PMID:25741868 PMID:28492532 NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,979,936 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10716473 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10716473 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G PRL prolactin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18926768 NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:10716473 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		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 IAGP ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to		 ClinVar
OMIM		 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 More... NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G LOC126860124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:100403701-100404900 IAGP ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum		 ClinVar PMID:25741868 PMID:27400125 PMID:28687708 PMID:29444212 PMID:29905864 More... NCBI chr 7:100,805,443...100,807,278 JBrowse link
G MDFIC MyoD family inhibitor domain containing ISS
IAGP		 OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY		 MouseDO
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 7:114,922,094...115,019,917
Ensembl chr 7:114,922,094...115,019,917 		JBrowse link
G SLC12A9 solute carrier family 12 member 9 IAGP ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:100,826,869...100,867,012
Ensembl chr 7:100,826,820...100,867,010 		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 IEP RGD PMID:22578261 RGD:6767308 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G FAS Fas cell surface death receptor IEP protein:increased expression:villous trophoblast RGD PMID:12700199 RGD:12904022 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G IL1A interleukin 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21493953 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL6 interleukin 6 IEP protein:increased expression:plasma
protein:increased expression: cervicovaginal fluid :
associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:		 RGD PMID:15547537 PMID:25687566 PMID:25011638 RGD:5128667, RGD:12792243, RGD:12791291 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G LTA lymphotoxin alpha severity IAGP associated with Premature Birth;DNA:SNP:promoter:250G>A (human) RGD PMID:15128916 RGD:12904055 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324 		JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IAGP DNA:polymorphism:exon:p.G54D(human) RGD PMID:15723707 RGD:12910932 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:12712078 RGD:13204828 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G TGFB1 transforming growth factor beta 1 severity IEP protein:increased expression:amniotic fluid RGD PMID:19332995 RGD:4145137 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TNF tumor necrosis factor no_association
severity		 IAGP associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human)
associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human)		 RGD PMID:15128916 PMID:15128916 RGD:12904055, RGD:12904055 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 IEP associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid: RGD PMID:19591072 RGD:127229904 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,100...41,286,682 		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 IEP protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G IGF2 insulin like growth factor 2 disease_progression IDA protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G INSR insulin receptor disease_progression IDA protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G PDGFB platelet derived growth factor subunit B IEP mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IEP mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 IEP DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041 		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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb		 CTD
ClinVar		 PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr17:30,958,921...30,999,911
Ensembl chr17:30,970,984...30,999,911 		JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSALR1 HSP90AB1 associated lncRNA 1 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH		 ClinVar PMID:25741868 PMID:28492532 PMID:28716860 NCBI chr16:88,731,180...88,741,425 JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G LOC130059751 ATAC-STARR-seq lymphoblastoid silent region 7872 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr16:88,737,356...88,737,575 JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP
EXP		 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 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		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 chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390 		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 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19282327 NCBI chr 6:49,727,376...49,744,388
Ensembl chr 6:49,727,376...49,744,437 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr12:55,966,830...55,972,789
Ensembl chr12:55,966,781...55,972,789 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397 		JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:18384776 RGD:2306554 NCBI chr10:44,370,165...44,385,097
Ensembl chr10:44,370,165...44,386,493 		JBrowse link
G FOXO3 forkhead box O3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774 		JBrowse link
G GPX4 glutathione peroxidase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12566075 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17008600 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556 		JBrowse link
G IGF2 insulin like growth factor 2 ISO DNA:methylation: : RGD PMID:18778817 RGD:5509951 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IL18 interleukin 18 ISO RGD PMID:21920610 RGD:8655947 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096 		JBrowse link
G LCMT1 leucine carboxyl methyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17724024 NCBI chr16:25,111,742...25,178,228
Ensembl chr16:25,111,731...25,178,231 		JBrowse link
G LIF LIF interleukin 6 family cytokine EXP CTD Direct Evidence: marker/mechanism CTD PMID:23409146 NCBI chr22:30,240,453...30,246,759
Ensembl chr22:30,240,453...30,246,759 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO RGD PMID:22972987 RGD:155663421 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MIR105-2 microRNA 105-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr  X:152,394,412...152,394,492
Ensembl chr  X:152,394,412...152,394,492 		JBrowse link
G NLRP5 NLR family pyrin domain containing 5 IAGP ClinVar Annotator: match by term: Preimplantation embryonic lethality ClinVar NCBI chr19:55,999,726...56,061,810
Ensembl chr19:55,999,726...56,061,810 		JBrowse link
G PARG poly(ADP-ribose) glycohydrolase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15591342 NCBI chr10:49,818,279...49,942,027
Ensembl chr10:49,818,279...49,970,203 		JBrowse link
G SALL1 spalt like transcription factor 1 ISO RGD PMID:11688560 RGD:155641230 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO RGD PMID:16790473 RGD:155631313 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SLC31A1 solute carrier family 31 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11391004 NCBI chr 9:113,221,544...113,264,492
Ensembl chr 9:113,221,544...113,264,492 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO RGD PMID:22972987 RGD:155663421 NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:22972987 RGD:155663421 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G UBE2N ubiquitin conjugating enzyme E2 N EXP CTD Direct Evidence: marker/mechanism CTD PMID:16738225 NCBI chr12:93,405,684...93,441,947
Ensembl chr12:93,405,673...93,441,947 		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 IAGP ClinVar Annotator: match by term: Familial gestational hyperthyroidism ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr14:80,476,969...80,959,502
Ensembl chr14:80,476,983...80,959,517 		JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP
EXP		 ClinVar Annotator: match by term: Familial gestational hyperthyroidism
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:7528344 PMID:8636266 PMID:8681963 PMID:8954020 PMID:8964822 More... NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		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 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence ClinVar PMID:25741868 PMID:33060286 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G DOK7 docking protein 7 IAGP ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2261499 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 More... NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G LOC129992118 ATAC-STARR-seq lymphoblastoid silent region 15206 IAGP ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:3,489,712...3,489,821 JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:9536098 PMID:15496425 PMID:17576681 PMID:23326516 PMID:24122059 More... NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G PRG4 proteoglycan 4 IAGP ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2245297 PMID:12651869 PMID:15145336 PMID:15282317 PMID:19620612 More... NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:23919265 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D IAGP ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047 		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 AC026369.1 novel transcript, antisense to IQSEC3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:137,411...149,169
Ensembl chr12:137,411...149,169 		JBrowse link
G ACP2 acid phosphatase 2, lysosomal IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,239,302...47,248,814
Ensembl chr11:47,239,302...47,248,906 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP 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 chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ADD1 adducin 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076 		JBrowse link
G ADSS1 adenylosuccinate synthase 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325 		JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 6:24,494,969...24,537,207
Ensembl chr 6:24,494,867...24,537,207 		JBrowse link
G ARFGAP2 ARF GTPase activating protein 2 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,164,301...47,176,879
Ensembl chr11:47,164,299...47,177,125 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:29140481 PMID:31680123 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ASCC1 activating signal cointegrator 1 complex subunit 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8677029 PMID:25741868 PMID:28749478 PMID:31680123 NCBI chr10:72,096,032...72,217,134
Ensembl chr10:72,096,032...72,217,134 		JBrowse link
G ASPM assembly factor for spindle microtubules IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939 		JBrowse link
G AVEN apoptosis and caspase activation inhibitor IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr15:33,851,781...34,075,325
Ensembl chr15:33,858,782...34,075,155 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:46,936,689...47,164,385
Ensembl chr11:46,936,689...47,164,385 		JBrowse link
G DDB2 damage specific DNA binding protein 2 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217 		JBrowse link
G DOK7 docking protein 7 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 More... NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G DQX1 DEAQ-box RNA dependent ATPase 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:74,518,131...74,526,231
Ensembl chr 2:74,518,131...74,526,281 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731 		JBrowse link
G EXOSC3 exosome component 3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 More... NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117 		JBrowse link
G FBLN1 fibulin 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135 		JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25558065 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645 		JBrowse link
G GCN1 GCN1 activator of EIF2AK4 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:120,127,202...120,194,715
Ensembl chr12:120,127,202...120,194,715 		JBrowse link
G GFRA4 GDNF family receptor alpha 4 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr20:3,659,248...3,663,399
Ensembl chr20:3,659,248...3,663,399 		JBrowse link
G GLDN gliomedin IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28726266 PMID:31680123 PMID:32812332 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G GRK4 G protein-coupled receptor kinase 4 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:2,963,571...3,040,760
Ensembl chr 4:2,963,571...3,040,760 		JBrowse link
G HGFAC HGF activator IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:3,441,005...3,449,486
Ensembl chr 4:3,441,968...3,449,486 		JBrowse link
G HTT huntingtin IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957 		JBrowse link
G IQSEC3 IQ motif and Sec7 domain ArfGEF 3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:66,767...178,455
Ensembl chr12:66,767...178,455 		JBrowse link
G IQSEC3-AS1 IQSEC3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:164,620...182,408 JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G LOC124310625 Sharpr-MPRA regulatory region 6532 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25640679 PMID:25695962 PMID:25900532 PMID:28492532 NCBI chr 9:110,752,809...110,753,103 JBrowse link
G LOC125177481 Sharpr-MPRA regulatory region 245 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr17:42,683,771...42,684,065 JBrowse link
G LOC126806951 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:3486115-3487314 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16199547 PMID:16794080 PMID:16917026 PMID:17452375 PMID:18165682 More... NCBI chr 4:3,484,388...3,485,587 JBrowse link
G LOC126860730 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:113544666-113545865 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25695962 PMID:25900532 PMID:28492532 NCBI chr 9:110,782,386...110,783,585 JBrowse link
G LOC129992118 ATAC-STARR-seq lymphoblastoid silent region 15206 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:9536098 PMID:16794080 PMID:16917026 PMID:17576681 PMID:18165682 More... NCBI chr 4:3,489,712...3,489,821 JBrowse link
G LRP4 LDL receptor related protein 4 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G MADD MAP kinase activating death domain IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G MADD-AS1 MADD antisense RNA 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,270,657...47,272,110
Ensembl chr11:47,270,657...47,272,110 		JBrowse link
G MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:113,390,515...113,685,923
Ensembl chr 1:113,390,515...113,685,923 		JBrowse link
G MFSD10 major facilitator superfamily domain containing 10 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:2,930,567...2,934,825
Ensembl chr 4:2,930,561...2,934,834 		JBrowse link
G MSANTD1 Myb/SANT DNA binding domain containing 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:3,244,273...3,256,613
Ensembl chr 4:3,244,369...3,271,738 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP
EXP		 ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
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
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 More... NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:27214504 PMID:31680123 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NOP14 NOP14 nucleolar protein IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:2,937,936...2,963,406
Ensembl chr 4:2,937,933...2,963,406 		JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033 		JBrowse link
G PACSIN3 protein kinase C and casein kinase substrate in neurons 3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,177,522...47,186,434
Ensembl chr11:47,177,522...47,186,443 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More... NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PRG4 proteoglycan 4 IAGP ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G PRICKLE1 prickle planar cell polarity protein 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:42,456,757...42,589,746
Ensembl chr12:42,456,757...42,590,355 		JBrowse link
G PSMC3 proteasome 26S subunit, ATPase 3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,418,775...47,426,439
Ensembl chr11:47,418,769...47,426,473 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-related disorder		 ClinVar PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 More... NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RGS12 regulator of G protein signaling 12 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:3,285,891...3,439,913
Ensembl chr 4:3,293,021...3,439,913 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1		 ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:23919265 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G RYR3 ryanodine receptor 3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G SETBP1 SET binding protein 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 More... NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SH3BP2 SH3 domain binding protein 2 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		JBrowse link
G SPAG16 sperm associated antigen 16 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:213,284,464...214,410,501
Ensembl chr 2:213,284,389...214,410,501 		JBrowse link
G SPI1 Spi-1 proto-oncogene IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369 		JBrowse link
G SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 9:110,365,248...110,579,741
Ensembl chr 9:110,365,248...110,579,880 		JBrowse link
G TMPO thymopoietin IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,561...98,550,351 		JBrowse link
G TXN thioredoxin IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 9:110,243,810...110,256,507
Ensembl chr 9:110,243,810...110,256,507 		JBrowse link
G TXNDC8 thioredoxin domain containing 8 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 9:110,301,231...110,337,863
Ensembl chr 9:110,303,476...110,337,891 		JBrowse link
G UNC50 unc-50 inner nuclear membrane RNA binding protein IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:98,608,589...98,618,515
Ensembl chr 2:98,608,579...98,618,515 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D IAGP ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZNF875 zinc finger protein 875 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr19:37,312,837...37,364,455
Ensembl chr19:37,312,837...37,369,365 		JBrowse link
fetal akinesia deformation sequence syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAPSN receptor associated protein of the synapse IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 OMIM
ClinVar		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		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 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 ClinVar PMID:25741868 NCBI chr 1:62,454,726...62,688,386
Ensembl chr 1:62,454,298...62,688,386 		JBrowse link
G DOK7 docking protein 7 IAGP 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 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G LOC126806951 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:3486115-3487314 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 ClinVar PMID:25741868 NCBI chr 4:3,484,388...3,485,587 JBrowse link
G LOC129992118 ATAC-STARR-seq lymphoblastoid silent region 15206 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 ClinVar PMID:25741868 NCBI chr 4:3,489,712...3,489,821 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 LOC126862474 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:5316624-5317823 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 ClinVar PMID:25741868 NCBI chr17:5,413,304...5,414,503 JBrowse link
G NUP88 nucleoporin 88 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 OMIM
ClinVar		 PMID:25741868 PMID:30543681 NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164 		JBrowse link
G RABEP1 rabaptin, RAB GTPase binding effector protein 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 ClinVar PMID:25741868 NCBI chr17:5,282,284...5,386,340
Ensembl chr17:5,282,265...5,386,340 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29109170 NCBI chr10:60,026,298...60,733,528
Ensembl chr10:60,026,298...60,733,490 		JBrowse link
G APOE apolipoprotein E ISO RGD PMID:15007105 RGD:12904641 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G BPIFA1 BPI fold containing family A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15513904 NCBI chr20:33,235,996...33,243,306
Ensembl chr20:33,235,995...33,243,311 		JBrowse link
G C3 complement C3 ISO protein:increased activity:blood RGD PMID:30657461 RGD:408418720 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G C5 complement C5 ISO protein:increased activity:blood RGD PMID:30657461 RGD:408418720 NCBI chr 9:120,952,335...121,074,865
Ensembl chr 9:120,932,987...121,075,195 		JBrowse link
G CAT catalase EXP CTD Direct Evidence: therapeutic CTD PMID:26074427 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		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 chr17:45,784,320...45,835,828
Ensembl chr17:45,784,277...45,835,828 		JBrowse link
G DIO3 iodothyronine deiodinase 3 treatment ISO RGD PMID:23763370 RGD:13432044 NCBI chr14:101,561,495...101,563,452
Ensembl chr14:101,560,139...101,563,452 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA,protein:increased expression:Pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		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 chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691 		JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 ISO mRNA:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 6:31,879,759...31,897,698
Ensembl chr 6:31,879,759...31,897,698 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 treatment
sexual_dimorphism		 ISO in male mice only; mRNA:increased expression:frontal cortex: RGD PMID:23763370 PMID:30312858 RGD:13432044, RGD:405866345 NCBI chr15:26,543,552...26,773,763
Ensembl chr15:26,543,552...26,939,539 		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 chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:22037411 PMID:23763370 RGD:13210751, RGD:13432044 NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002 		JBrowse link
G HDAC2 histone deacetylase 2 ISO mRNA,protein:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308 		JBrowse link
G HDAC4 histone deacetylase 4 ISO mRNA,protein:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO protein:increased expression:placenta (rat) RGD PMID:26342748 RGD:401965481 NCBI chr16:67,429,801...67,437,553
Ensembl chr16:67,430,652...67,437,553 		JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA:decreased expression:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO protein:decreased activity:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G MAT2A methionine adenosyltransferase 2A ISO mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281 		JBrowse link
G MECP2 methyl-CpG binding protein 2 treatment ISO mRNA:increased expression:pituitary gland (rat) RGD PMID:26509893 PMID:23763370 RGD:11344152, RGD:13432044 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MIR326 microRNA 326 ISO miRNA:increases expression:pituitary gland (rat) RGD PMID:28710248 RGD:401960105 NCBI chr11:75,335,092...75,335,186
Ensembl chr11:75,335,092...75,335,186 		JBrowse link
G MIR7-3 microRNA 7-3 ISO miRNA:increased expression:pituitary gland (rat) RGD PMID:28710248 RGD:401960105 NCBI chr19:4,770,670...4,770,779
Ensembl chr19:4,770,670...4,770,779 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278 		JBrowse link
G NOS1 nitric oxide synthase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25511929 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170 		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 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698 		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 8:53,225,724...53,251,637
Ensembl chr 8:53,225,724...53,251,637 		JBrowse link
G OPRL1 opioid related nociceptin receptor 1 ISO mRNA:decreased expression:ventral tegmental area RGD PMID:29678771 RGD:401851055 NCBI chr20:64,080,082...64,100,643
Ensembl chr20:64,080,082...64,100,643 		JBrowse link
G PDYN prodynorphin ISO DNA, mRNA:hypomethylation, altered expression:ventral tegmental area, nucleus accumbens RGD PMID:29678771 RGD:401851055 NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285 		JBrowse link
G PER2 period circadian regulator 2 treatment IDA RGD PMID:31329297 RGD:405878078 NCBI chr 2:238,244,044...238,300,065
Ensembl chr 2:238,244,044...238,290,102 		JBrowse link
G PNOC prepronociceptin ISO mRNA:increased expression:nucleus accumbens RGD PMID:29678771 RGD:401851055 NCBI chr 8:28,316,988...28,343,351
Ensembl chr 8:28,316,986...28,343,355 		JBrowse link
G POMC proopiomelanocortin treatment IDA RGD PMID:31329297 RGD:405878078 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		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 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826 		JBrowse link
G PTEN phosphatase and tensin homolog ISO Protein:increased expression, increased activity:cerebellum (rat) RGD PMID:12700235 RGD:12801493 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 treatment ISO RGD PMID:23763370 RGD:13432044 NCBI chr15:78,959,906...79,090,780
Ensembl chr15:78,959,906...79,090,780 		JBrowse link
G RPS6KA1 ribosomal protein S6 kinase A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29109170 NCBI chr 1:26,529,761...26,575,025
Ensembl chr 1:26,529,761...26,575,030 		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 4:139,492,974...139,556,219
Ensembl chr 4:139,495,941...139,606,699 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 treatment ISO RGD PMID:23763370 RGD:13432044 NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002 		JBrowse link
G TLR4 toll like receptor 4 ameliorates ISO RGD PMID:30312858 RGD:405866345 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G UBE3A ubiquitin protein ligase E3A treatment ISO RGD PMID:23763370 RGD:13432044 NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051 		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 chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998 		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 IAGP DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:11085286 RGD:11038921 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G AHSP alpha hemoglobin stabilizing protein IEP mRNA, protein:decreased expression:placenta (human) RGD PMID:18347943 RGD:329956422 NCBI chr16:31,527,900...31,528,803
Ensembl chr16:31,527,900...31,528,803 		JBrowse link
G ATR ATR serine/threonine kinase ISO RGD PMID:15282542 RGD:150340675 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G F5 coagulation factor V no_association IAGP RGD PMID:14706682 RGD:1580130 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:6635991 NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:20393889 RGD:12910472 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G LPAR1 lysophosphatidic acid receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11087877 NCBI chr 9:110,873,263...111,038,998
Ensembl chr 9:110,873,263...111,038,470 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G OXT oxytocin/neurophysin I prepropeptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:5067144 NCBI chr20:3,071,620...3,072,517
Ensembl chr20:3,071,620...3,072,517 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:11023856 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G RDH10 retinol dehydrogenase 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27793605 NCBI chr 8:73,294,602...73,325,281
Ensembl chr 8:73,294,602...73,325,281 		JBrowse link
G TFPI tissue factor pathway inhibitor ISO associated with Hemorrhage; RGD PMID:9242522 RGD:11060259 NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IMP associated with Endotoxemia; human protein in rat model RGD PMID:21187445 RGD:5131261 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10195895 PMID:10195896 PMID:10346820 PMID:20961246 NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO associated with Diabetes Mellitus, Experimental RGD PMID:19283362 RGD:2313217 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G PRKCB protein kinase C beta ISO associated with Diabetes Mellitus, Experimental;protein:increased expression RGD PMID:15496608 RGD:1625524 NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611 		JBrowse link
G PRSS8 serine protease 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22705055 NCBI chr16:31,131,433...31,135,727
Ensembl chr16:31,131,433...31,135,727 		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 IAGP
ISS		 ClinVar Annotator: match by term: Cocoon syndrome
OMIM:613630		 ClinVar
MouseDO
OMIM		 PMID:20961246 NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596 		JBrowse link
Fetal Growth Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO mRNA:increased expression:placenta RGD PMID:16225763 RGD:2306659 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G ACE angiotensin I converting enzyme ISO mRNA:increased expression:kidney (rat) RGD PMID:24847689 RGD:12879387 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle EXP CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ADIPOR1 adiponectin receptor 1 treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chr 1:202,940,825...202,958,572
Ensembl chr 1:202,940,826...202,958,572 		JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chr12:1,691,070...1,788,674
Ensembl chr12:1,688,574...1,788,674 		JBrowse link
G AGT angiotensinogen ISO
EXP
IMP		 mRNA,protein:increased expression:kidney,urine:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17537837 PMID:26270574 PMID:20530295 RGD:11538508, RGD:13432363 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO RGD PMID:21303825 RGD:5129179 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008 		JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:21303825 RGD:5129179 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) RGD PMID:26320891 RGD:13434923 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 IEP protein:increased expression:serum (human) RGD PMID:25724728 RGD:14696679 NCBI chr 9:137,174,784...137,188,560
Ensembl chr 9:137,174,784...137,188,560 		JBrowse link
G APOE apolipoprotein E ISO mRNA:increased expression:adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G APOH apolipoprotein H ISO RGD PMID:24642748 RGD:10054118 NCBI chr17:66,212,033...66,229,415
Ensembl chr17:66,212,033...66,256,525 		JBrowse link
G ARG1 arginase 1 ISO RNA:increased expression:thoracic aorta: RGD PMID:29741931 RGD:13792602 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO protein:increased expression:retroperitoneal fat pad (rat) RGD PMID:26633942 RGD:13703049 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334 		JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO protein:decreased expression:liver (rat) RGD PMID:26342040 RGD:13782135 NCBI chr12:56,638,175...56,645,984
Ensembl chr12:56,638,175...56,645,984 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:22710965 RGD:9068402 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO protein:decreased expression:pancreas (rat) RGD PMID:20873977 RGD:152985538 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO protein:decreased expression:pancreas (rat) RGD PMID:20873977 RGD:152985538 NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO RGD PMID:3973436 RGD:2303532 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943 		JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062 		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 chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COMT catechol-O-methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23667712 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO RGD PMID:3973436 RGD:2303532 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107 		JBrowse link
G CTH cystathionine gamma-lyase EXP CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 1:70,411,268...70,439,851
Ensembl chr 1:70,411,218...70,439,851 		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 chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO protein:decreased expression:fetus, adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846 		JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 ISO mRNA:increased expression:fetus, adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO
IAGP		 mRNA:increased expression:placenta RGD PMID:16225763 PMID:17706398 PMID:18442069 RGD:2306659, RGD:11576317, RGD:11576311 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G DDX23 DEAD-box helicase 23 IAGP ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:25741868 PMID:34050707 NCBI chr12:48,829,756...48,852,163
Ensembl chr12:48,829,756...48,852,842 		JBrowse link
G DES desmin EXP CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27776119 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA,protein:decreased expression:hippocampus:
mRNA:increased expression:adrenal gland:
mRNA:decreased expression:kidney:		 RGD PMID:16380407 PMID:24717552 PMID:12869365 RGD:9588242, RGD:9590296, RGD:9588619 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO RGD PMID:12487923 RGD:7771581 NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195 		JBrowse link
G DUSP5 dual specificity phosphatase 5 ISO RGD PMID:16940436 RGD:2317872 NCBI chr10:110,497,907...110,511,533
Ensembl chr10:110,497,907...110,511,533 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ClinVar Annotator: match by term: Intrauterine growth restriction ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 More... NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G ELK1 ETS transcription factor ELK1 IEP mRNA:decreased expression:placenta RGD PMID:20008130 RGD:7488901 NCBI chr  X:47,635,520...47,650,604
Ensembl chr  X:47,635,520...47,650,604 		JBrowse link
G ESRRG estrogen related receptor gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:35220427 NCBI chr 1:216,503,246...217,137,702
Ensembl chr 1:216,503,246...217,137,755 		JBrowse link
G FAS Fas cell surface death receptor susceptibility IAGP
IEP		 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 chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand severity IEP protein:increased expression:amniotic fluid:
associated with protein:increased expression:serum:		 RGD PMID:23582102 PMID:16169656 RGD:12903972, RGD:12904025 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit treatment ISO RGD PMID:26322574 RGD:405650593 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO
IEP		 mRNA:decreased expression:placenta
mRNA:decreased expression:chorionic villus 		RGD PMID:25054679 PMID:25054679 RGD:329955538, RGD:329955538 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO mRNA:increased expression:liver
mRNA, protein:decreased expression:liver (rat)		 RGD PMID:15448092 PMID:23744881 RGD:2315963, RGD:14695550 NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438 		JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA, protein:decreased expression:kidney RGD PMID:25986755 RGD:405866360 NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide disease_progression ISO RGD PMID:20637157 RGD:12904883 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947 		JBrowse link
G GHSR growth hormone secretagogue receptor disease_progression ISO RGD PMID:20637157 RGD:12904883 NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19500843 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843 		JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 ISO protein:decreased expression:cerebral cortical neuron (rat) RGD PMID:20398734 RGD:4107070 NCBI chr 5:153,489,615...153,813,869
Ensembl chr 5:153,489,615...153,813,869 		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 chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B treatment ISO RGD PMID:20423831 RGD:13210763 NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion:: (human) RGD PMID:22310945 PMID:19147266 RGD:10450795, RGD:12792219 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP DNA:deletion, haplotype:: (human)
DNA:deletion:: (human)		 RGD PMID:22310945 PMID:19147266 RGD:10450795, RGD:12792219
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO mRNA:decreased expression RGD PMID:11124150 RGD:1599884 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672 		JBrowse link
G HDAC1 histone deacetylase 1 ISO mRNA:increased expression:adrenal gland:
protein:decreased expression, decreased activity:hippocampus:		 RGD PMID:18464933 PMID:24717552 PMID:16380407 RGD:2311214, RGD:9590296, RGD:9588242 NCBI chr 1:32,292,083...32,333,626
Ensembl chr 1:32,292,083...32,333,635 		JBrowse link
G HDAC2 histone deacetylase 2 ISO mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IDA DNA:altered methylation:prompter: RGD PMID:20126273 RGD:12904699 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		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 chr16:67,429,801...67,437,553
Ensembl chr16:67,430,652...67,437,553 		JBrowse link
G IGF1 insulin like growth factor 1 treatment
onset		 ISO
IDA		 mRNA:decreased expression:liver
human protein in a rat model
protein:decreased expression:placenta labyrinth (rat)		 RGD PMID:19088829 PMID:9284279 PMID:24239160 PMID:15506645 RGD:2306715, RGD:12910460, RGD:12904720, RGD:1600258 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGF1R insulin like growth factor 1 receptor onset IAGP
EXP
ISO		 DNA:point mutation:exon:p.R108Q, p.K115N (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:liver, lung (rat)
protein:decreased expression:placenta labyrinth (rat)		 CTD
RGD		 PMID:14657428 PMID:14657428 PMID:12536576 PMID:24239160 RGD:1624299, RGD:12904724, RGD:12904720 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IGF2 insulin like growth factor 2 EXP
ISO		 CTD Direct Evidence: marker/mechanism
mRNA:altered expresssion:liver,placenta:		 CTD
RGD		 PMID:12087403 PMID:16040806 PMID:1408464 RGD:14985247 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO mRNA:increased expresssion:fetus: RGD PMID:1408464 RGD:14985247 NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 treatment ISO
IEP
IDA		 protein:increased expression:brain
protein:increased expression:Amniotic fluid:
protein:decreased expression:serum:
mRNA:increased expression:placenta:
DNA:hypermethylation:promoter:		 RGD PMID:16923367 PMID:19217707 PMID:19591553 PMID:21823995 PMID:21924014 More... RGD:10402581, RGD:12743599, RGD:12743590, RGD:12743585, RGD:12743583, RGD:1600258 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874 		JBrowse link
G IL1A interleukin 1 alpha IEP mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IRS1 insulin receptor substrate 1 ISO mRNA,protein:decreased expression:growth plate: RGD PMID:22995397 RGD:8661261 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820 		JBrowse link
G IRS2 insulin receptor substrate 2 ISO RGD PMID:20720385 RGD:7257699 NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583 		JBrowse link
G LEP leptin ISO RGD PMID:21353474 RGD:5128507 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LINC00908 long intergenic non-protein coding RNA 908 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25982381 NCBI chr18:76,528,655...76,559,827
Ensembl chr18:76,528,580...76,693,637 		JBrowse link
G MDM2 MDM2 proto-oncogene ISO mRNA:decreased expression:cerebrum (rat) RGD PMID:15563574 RGD:2317395 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO mRNA,protein:decreased expression:hippocampus: RGD PMID:16380407 RGD:9588242 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP
EXP		 DNA:SNP:promoter:-1306C>T (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:28157488 PMID:17367869 RGD:13204803 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO
IAGP		 DNA:SNP:cds:1958G>A(human)
DNA:SNP: :401A>G(human)		 RGD PMID:22378735 PMID:18771981 PMID:25118499 RGD:12910955, RGD:12914148, RGD:12910958 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO RGD PMID:19287349 RGD:7349369 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO RGD PMID:19287349 RGD:7349369 NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511 		JBrowse link
G MUC4 mucin 4, cell surface associated ISO RGD PMID:19287349 RGD:7349369 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO
IEP		 protein:decreased expression:placenta RGD PMID:23910525 PMID:25171874 PMID:25171874 RGD:10412716, RGD:26884462, RGD:26884462 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NOS1 nitric oxide synthase 1 ISO associated with hyperinsulinemia; protein:decreased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO associated with hyperinsulinemia; protein:increased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO
EXP		 associated with hyperinsulinemia; protein:decreased expression:placenta
CTD Direct Evidence: marker/mechanism
RNA, protein:increased expression:thoracic aorta:		 CTD
RGD		 PMID:22421449 PMID:23667712 PMID:19709742 PMID:29741931 RGD:5132592, RGD:13792602 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		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 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G ORC1 origin recognition complex subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G OTC ornithine transcarbamylase ISO mRNA:altered expression:liver (rat) RGD PMID:8929856 RGD:4144077 NCBI chr  X:38,327,684...38,422,928
Ensembl chr  X:38,327,598...38,422,908 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO mRNA:decreased expression:liver: RGD PMID:12538794 RGD:10448276 NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121 		JBrowse link
G PDGFA platelet derived growth factor subunit A IEP mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr 7:497,258...520,700
Ensembl chr 7:497,258...520,296 		JBrowse link
G PDGFB platelet derived growth factor subunit B IEP mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 ISO mRNA:decreased expression:pancreatic islet RGD PMID:18464933 RGD:2311214 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G POMC proopiomelanocortin ISO mRNA, protein:decreased expression:hypothalamus RGD PMID:19390493 RGD:407580521 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO mRNA:decreased expression:lung (rat) RGD PMID:21425435 RGD:8552971 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA, protein:increased expression:liver (rat) RGD PMID:18433551 RGD:10059649 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PRDX6 peroxiredoxin 6 IEP
ISO		 protein:decreased expression:placenta RGD PMID:25171874 PMID:25171874 RGD:26884462, RGD:26884462 NCBI chr 1:173,477,335...173,488,815
Ensembl chr 1:173,477,330...173,488,815 		JBrowse link
G PTGER3 prostaglandin E receptor 3 ISO mRNA, protein:increased expression:placenta (rat) RGD PMID:15990166 RGD:10043194 NCBI chr 1:70,852,358...71,047,816
Ensembl chr 1:70,852,353...71,047,816 		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 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 treatment ISO with postnatal growth restriction RGD PMID:19491300 RGD:12743586 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RBP1 retinol binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 3:139,517,438...139,539,742
Ensembl chr 3:139,517,434...139,539,829 		JBrowse link
G REN renin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17537837 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324 		JBrowse link
G SAMD9 sterile alpha motif domain containing 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27182967 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023 		JBrowse link
G SERPINE1 serpin family E member 1 IEP associated with Pre-Eclampsia;protein:increased expression:plasma,placenta: RGD PMID:8018914 RGD:13208595 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO RGD PMID:18464933 RGD:2311214 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO protein:increased expression:placenta
mRNA, protein:increased expression:liver		 RGD PMID:11738800 PMID:9886959 RGD:730192, RGD:12879480 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 ISO mRNA, protein:decreased expression:liver RGD PMID:9886959 RGD:12879480 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO protein:increased expression:placenta RGD PMID:11738800 RGD:730192 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007 		JBrowse link
G SLC38A2 solute carrier family 38 member 2 ISO mRNA, protein:decreased expression:placenta RGD PMID:21812961 RGD:9999212 NCBI chr12:46,358,188...46,372,773
Ensembl chr12:46,358,188...46,372,773 		JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21893188 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO RGD PMID:19017816 RGD:2308805 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002 		JBrowse link
G STAR steroidogenic acute regulatory protein ISO mRNA:increased expression:adrenal gland, maternal (rat) RGD PMID:17881205 RGD:4832477 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992 		JBrowse link
G TFF3 trefoil factor 3 ISO RGD PMID:19287349 RGD:7349369 NCBI chr21:42,311,667...42,315,409
Ensembl chr21:42,311,667...42,315,409 		JBrowse link
G UNC13A unc-13 homolog A ISO RGD PMID:18787382 RGD:5686390 NCBI chr19:17,601,336...17,688,354
Ensembl chr19:17,601,336...17,688,365 		JBrowse link
G VDR vitamin D receptor IEP mRNA,protein:decreased expression:placenta: RGD PMID:25716068 RGD:11058690 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G XDH xanthine dehydrogenase IAGP ClinVar Annotator: match by term: Intrauterine growth restriction ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		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 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464 		JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 ISO protein:increased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chr17:45,784,320...45,835,828
Ensembl chr17:45,784,277...45,835,828 		JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO protein:decreased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chr 7:30,651,942...30,700,103
Ensembl chr 7:30,651,942...30,700,129 		JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:23427086 RGD:10395301 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:altered expression:heart (rat) RGD PMID:21856922 RGD:7207283 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP13 matrix metallopeptidase 13 ISO protein:increased expression:heart (rat) RGD PMID:21856922 RGD:7207283 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:17310378 RGD:1642145 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170 		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 IEP associated with Premature Birth; RGD PMID:24832219 RGD:12801490 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		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 IAGP
ISO		 DNA:mutations: : RGD PMID:17407387 PMID:19435144 RGD:12904698, RGD:12904767 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G IGF1 insulin like growth factor 1 IEP protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874 		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 chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844 		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 chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		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 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G MAOA monoamine oxidase A EXP CTD Direct Evidence: marker/mechanism CTD PMID:22340208 NCBI chr  X:43,655,006...43,746,817
Ensembl chr  X:43,654,907...43,746,817 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO associated with maternal low protein diet; protein:decreased expression:kidney (rat) RGD PMID:23977013 RGD:155882570 NCBI chr19:35,862,915...35,869,357
Ensembl chr19:35,825,964...35,869,287 		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 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952 		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 chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		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 chr17:66,212,033...66,229,415
Ensembl chr17:66,212,033...66,256,525 		JBrowse link
G CGB3 chorionic gonadotropin subunit beta 3 EXP CTD Direct Evidence: therapeutic CTD PMID:3816235 NCBI chr19:49,022,869...49,024,333
Ensembl chr19:49,022,869...49,024,333 		JBrowse link
G PRL prolactin EXP CTD Direct Evidence: therapeutic CTD PMID:3816235 NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826 		JBrowse link
Galactorrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRL prolactin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20083845 NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826 		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 IEP
EXP
ISO		 protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15126557 PMID:19626510 PMID:23608331 RGD:2313236, RGD:8695950 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G AHSG alpha 2-HS glycoprotein IEP protein:increased expression:serum RGD PMID:12153747 RGD:2313814 NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318 		JBrowse link
G ANGPTL6 angiopoietin like 6 IEP protein:increased expression:blood serum,umbilical artery (human) RGD PMID:35876300 RGD:329845845 NCBI chr19:10,092,338...10,106,190
Ensembl chr19:10,092,338...10,102,678 		JBrowse link
G APOD apolipoprotein D IEP RGD PMID:6828336 RGD:2311180 NCBI chr 3:195,568,705...195,583,940
Ensembl chr 3:195,568,705...195,584,033 		JBrowse link
G AR androgen receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G ATP2B1 ATPase plasma membrane Ca2+ transporting 1 IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr12:89,588,049...89,709,366
Ensembl chr12:89,588,049...89,709,366 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939 		JBrowse link
G ATP2B4 ATPase plasma membrane Ca2+ transporting 4 IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 1:203,626,832...203,744,081
Ensembl chr 1:203,626,832...203,744,081 		JBrowse link
G BNIP3L BCL2 interacting protein 3 like ISO RGD PMID:26512955 RGD:11564338 NCBI chr 8:26,383,054...26,413,127
Ensembl chr 8:26,383,054...26,505,636 		JBrowse link
G C12orf43 chromosome 12 open reading frame 43 IAGP ClinVar Annotator: match by term: Gestational diabetes ClinVar PMID:9562352 PMID:25741868 PMID:35299962 NCBI chr12:121,000,486...121,016,487
Ensembl chr12:121,000,486...121,016,502 		JBrowse link
G CALB1 calbindin 1 IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 8:90,058,608...90,082,879
Ensembl chr 8:90,058,608...90,095,475 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 IEP RGD PMID:18702087 RGD:2306986 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCN2 cellular communication network factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34175429 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 IAGP DNA:snp: :rs7756992,rs7754840(human) RGD PMID:19002430 RGD:2313946 NCBI chr 6:20,534,457...21,232,404
Ensembl chr 6:20,534,457...21,232,404 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 IEP mRNA:increased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IEP mRNA:increased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231 		JBrowse link
G DCN decorin IEP RGD PMID:16630654 RGD:2311413 NCBI chr12:91,140,484...91,182,817
Ensembl chr12:91,140,484...91,183,217 		JBrowse link
G DNAH8 dynein axonemal heavy chain 8 IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 6:38,715,311...39,030,792
Ensembl chr 6:38,715,311...39,030,792 		JBrowse link
G FGF2 fibroblast growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236 		JBrowse link
G FOXM1 forkhead box M1 ISO RGD PMID:19833884 RGD:2315927 NCBI chr12:2,857,680...2,877,174
Ensembl chr12:2,857,680...2,877,174 		JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO protein:increased activity:liver RGD PMID:12595588 RGD:2315965 NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438 		JBrowse link
G GAD2 glutamate decarboxylase 2 IDA RGD PMID:18588707 RGD:2313295 NCBI chr10:26,216,372...26,304,558
Ensembl chr10:26,216,665...26,304,558 		JBrowse link
G GCK glucokinase IAGP DNA:SNP:promoter:A allele of -30G>A associated with GDM (p=0.008)
ClinVar Annotator: match by term: Gestational diabetes
DNA:point mutation:exon:S131P		 ClinVar
RGD		 PMID:8068341 PMID:8132752 PMID:8433729 PMID:8446612 PMID:10525657 More... RGD:2301873, RGD:1601293 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G GGT1 gamma-glutamyltransferase 1 IEP protein:increased activity:blood RGD PMID:18937705 RGD:2315598 NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005 		JBrowse link
G GH1 growth hormone 1 IEP protein:increased expression: RGD PMID:3519044 RGD:2315681 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO RGD PMID:22342560 RGD:11353780 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G HNF1A HNF1 homeobox A IAGP DNA:SNP:CDS:slightly increased frequency of the L allele of the I27L polymorphism (p=0.048)
ClinVar Annotator: match by term: Gestational diabetes		 ClinVar
RGD		 PMID:9562352 PMID:25741868 PMID:35299962 PMID:16752173 RGD:2301873 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP protein:decreased expression:placenta
protein:increased expression:decidua, endothelial cell		 RGD PMID:19343356 PMID:17990298 RGD:2313469, RGD:2313476 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:22241286 RGD:10046048 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IL10 interleukin 10 IEP protein:decreased expression:serum RGD PMID:18446686 RGD:2308947 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL6 interleukin 6 IDA protein:increased expression:extracellular space (human) RGD PMID:19408175 RGD:2307186 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G INHBA inhibin subunit beta A IEP protein:decreased expression:serum
protein:increased expression:serum		 RGD PMID:14663836 PMID:7852520 RGD:2313391, RGD:2313385 NCBI chr 7:41,685,114...41,705,406
Ensembl chr 7:41,667,168...41,705,834 		JBrowse link
G INS insulin IEP protein:increased expression:serum RGD PMID:19269197 RGD:2311131 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INSR insulin receptor IDA
ISO		 mRNA, protein:increased expression:placenta (human) RGD PMID:19179458 PMID:22241286 RGD:2307336, RGD:10046048 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G ITPR2 inositol 1,4,5-trisphosphate receptor type 2 IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr12:26,335,352...26,833,194
Ensembl chr12:26,335,352...26,833,194 		JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 6:33,621,322...33,696,562
Ensembl chr 6:33,620,365...33,696,574 		JBrowse link
G LEP leptin IEP
EXP		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20421132 PMID:19269197 RGD:2311131 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LEPR leptin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G MBL2 mannose binding lectin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15472209 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G MEN1 menin 1 ISO RGD PMID:17975067 RGD:2317319 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISS MouseDO NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MIR133A1 microRNA 133a-1 ISO RGD PMID:26512955 RGD:11564338 NCBI chr18:21,825,698...21,825,785
Ensembl chr18:21,825,698...21,825,785 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase IEP mRNA:increased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219 		JBrowse link
G PLAT plasminogen activator, tissue type IEP RGD PMID:17259140 RGD:2311668 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709 		JBrowse link
G RBP4 retinol binding protein 4 IEP protein:increased expression:blood serum (human) RGD PMID:35876300 RGD:329845845 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G RETN resistin IEP protein:increased expression:serum RGD PMID:19408175 RGD:2307186 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455 		JBrowse link
G RYR1 ryanodine receptor 1 IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G RYR2 ryanodine receptor 2 IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988 		JBrowse link
G RYR3 ryanodine receptor 3 IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G S100G S100 calcium binding protein G IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr  X:16,650,158...16,654,670
Ensembl chr  X:16,650,158...16,654,670 		JBrowse link
G SIRT3 sirtuin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23956348 NCBI chr11:215,030...236,931
Ensembl chr11:215,030...236,931 		JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23956348 PMID:30738174 PMID:34175429 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SRRM1 serine and arginine repetitive matrix 1 IEP protein:increased glycation:placenta (human) RGD PMID:24308201 RGD:11038724 NCBI chr 1:24,643,302...24,673,281
Ensembl chr 1:24,631,716...24,673,281 		JBrowse link
G TCF7L2 transcription factor 7 like 2 susceptibility IAGP DNA:SNP (human) RGD PMID:18984664 RGD:2312455 NCBI chr10:112,950,247...113,167,678
Ensembl chr10:112,950,247...113,167,678 		JBrowse link
G TRPV5 transient receptor potential cation channel subfamily V member 5 IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 7:142,908,101...142,933,746
Ensembl chr 7:142,908,101...142,933,746 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
G UTS2 urotensin 2 susceptibility IAGP DNA:polymorphism RGD PMID:17327028 RGD:2306802 NCBI chr 1:7,847,612...7,913,249
Ensembl chr 1:7,843,083...7,853,512 		JBrowse link
G VDR vitamin D receptor IEP mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		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 IAGP ClinVar Annotator: match by term: Gestational trophoblastic neoplasia ClinVar PMID:21948117 NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 IAGP ClinVar Annotator: match by term: Gestational trophoblastic neoplasia ClinVar PMID:21948117 PMID:25741868 NCBI chr19:54,923,515...54,966,243
Ensembl chr19:54,923,509...54,966,312 		JBrowse link
G POU5F1 POU class 5 homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18440631 NCBI chr 6:31,164,337...31,170,682
Ensembl chr 6:31,164,337...31,180,731 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: GRACILE syndrome
OMIM:603358
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443 		JBrowse link
G LOC129935609 ATAC-STARR-seq lymphoblastoid active region 17127 IAGP ClinVar Annotator: match by term: GRACILE syndrome ClinVar PMID:25741868 NCBI chr 2:218,659,677...218,659,806 JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: neonatal lactic acidosis ClinVar PMID:25741868 PMID:32313153 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		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 IAGP DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Greenberg dysplasia
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia		 ClinVar
OMIM
RGD		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... RGD:9588626 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		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 IAGP ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 OMIM
ClinVar		 PMID:25741868 NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995 		JBrowse link
G APOE apolipoprotein E IAGP RGD PMID:19086990 RGD:11039490 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G ASIC5 acid sensing ion channel subunit family member 5 IAGP ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 ClinVar NCBI chr 4:155,829,729...155,866,277
Ensembl chr 4:155,829,729...155,866,277 		JBrowse link
G CBX3 chromobox 3 IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 7:26,201,443...26,213,607
Ensembl chr 7:26,201,162...26,213,607 		JBrowse link
G CCDC68 coiled-coil domain containing 68 IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr18:54,901,509...54,959,461
Ensembl chr18:54,901,509...54,959,461 		JBrowse link
G CCNB3 cyclin B3 IAGP ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 ClinVar NCBI chr  X:50,202,713...50,351,914
Ensembl chr  X:50,202,713...50,351,914 		JBrowse link
G CDK2 cyclin dependent kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr12:55,966,830...55,972,789
Ensembl chr12:55,966,781...55,972,789 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397 		JBrowse link
G CENPH centromere protein H IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 5:69,189,583...69,210,357
Ensembl chr 5:69,189,574...69,210,357 		JBrowse link
G CREB5 cAMP responsive element binding protein 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30100398 NCBI chr 7:28,299,321...28,825,894
Ensembl chr 7:28,299,321...28,825,894 		JBrowse link
G F2 coagulation factor II, thrombin IAGP 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 chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F5 coagulation factor V susceptibility IAGP ClinVar Annotator: match by term: FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1		 ClinVar
OMIM		 PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FOXO3 forkhead box O3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:16414944 PMID:22581653 PMID:25741868 PMID:34398675 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association IAGP DNA:SNPs: :677C>T, 1298A>C (human)
DNA:SNP: :1298A>C (human)		 RGD PMID:22047507 PMID:22882325 PMID:19906129 RGD:10449404, RGD:10449415, RGD:10449411 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G PIF1 PIF1 5'-to-3' DNA helicase IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:25741868 NCBI chr15:64,815,632...64,827,062
Ensembl chr15:64,815,632...64,825,668 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 ClinVar NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G PLK1 polo like kinase 1 IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr16:23,678,889...23,690,367
Ensembl chr16:23,677,656...23,690,367 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:25741868 NCBI chr 9:133,406,058...133,418,172
Ensembl chr 9:133,406,059...133,418,096 		JBrowse link
G SYCP3 synaptonemal complex protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19110213 NCBI chr12:101,728,648...101,739,462
Ensembl chr12:101,728,648...101,739,472 		JBrowse link
G THBD thrombomodulin susceptibility IAGP DNA:SNP: :1418C>T (human) RGD PMID:23954867 RGD:11038683 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		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 IEP protein:decreased activity:plasma (human) RGD PMID:12969811 RGD:10449045 NCBI chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402 		JBrowse link
G AHSP alpha hemoglobin stabilizing protein IEP mRNA:decreased expression:placenta (human) RGD PMID:18347943 RGD:329956422 NCBI chr16:31,527,900...31,528,803
Ensembl chr16:31,527,900...31,528,803 		JBrowse link
G CD40LG CD40 ligand IEP protein:increased expression:blood platelet (human) RGD PMID:23241952 RGD:11522719 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IEP RGD PMID:9158311 RGD:1580990 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G FAS Fas cell surface death receptor susceptibility IAGP
ISO		 DNA:SNP:promoter:-670A>G(rs1800682)(human)
protein,mRNA:altered expression:placenta, liver:		 RGD PMID:30066360 PMID:28501275 RGD:14700669, RGD:14700673 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand susceptibility IAGP
ISO		 DNA:SNP:intron:124A>G(rs5030772)(human)
protein:altered expression:blood, placenta, liver:		 RGD PMID:30066360 PMID:28501275 RGD:14700669, RGD:14700673 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
hemolytic disease of the fetus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERMAP erythroblast membrane associated protein (Scianna blood group) IAGP ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chr 1:42,817,122...42,844,991
Ensembl chr 1:42,817,122...42,844,991 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP DNA:polymorphism: : RGD PMID:19129718 RGD:11100009 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G KEL Kell metallo-endopeptidase (Kell blood group) IAGP ClinVar Annotator: match by term: KELL K/k BLOOD GROUP POLYMORPHISM ClinVar PMID:7849312 PMID:8652402 PMID:25741868 NCBI chr 7:142,941,114...142,962,363
Ensembl chr 7:142,941,114...142,962,363 		JBrowse link
G SLC14A1 solute carrier family 14 member 1 (Kidd blood group) IAGP ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM ClinVar NCBI chr18:45,724,181...45,752,520
Ensembl chr18:45,687,025...45,752,520 		JBrowse link
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) IAGP ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 6:44,219,615...44,234,142
Ensembl chr 6:44,219,553...44,234,142 		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 IAGP ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328 NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,904,619...113,914,086 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:7607282 PMID:10583221 PMID:12437656 PMID:16332973 PMID:19734544 More... NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G POT1 protection of telomeres 1 IAGP ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29625052 PMID:32155570 PMID:36113475 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) RGD PMID:23959892 RGD:152977765 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G TERT telomerase reverse transcriptase EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia		 CTD
ClinVar		 PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		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 IEP protein:increased expression:serum RGD PMID:2473429 RGD:2293636 NCBI chr 6:87,085,498...87,095,106
Ensembl chr 6:87,085,498...87,095,106 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 IEP protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445 		JBrowse link
G KHDC3L KH domain containing 3 like, subcortical maternal complex member EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydatidiform mole		 CTD
ClinVar		 PMID:25741868 NCBI chr 6:73,362,658...73,364,171
Ensembl chr 6:73,362,658...73,364,171 		JBrowse link
G MLH1 mutL homolog 1 IDA DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MMP2 matrix metallopeptidase 2 IEP protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MSH2 mutS homolog 2 IDA DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 IAGP ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydatidiform mole		 CTD
ClinVar		 PMID:19246479 PMID:24033266 PMID:25741868 NCBI chr19:54,923,515...54,966,243
Ensembl chr19:54,923,509...54,966,312 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IEP mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		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 IEP protein:decreased expression:mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
Hydatidiform Mole, Recurrent, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIR3DL1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 IAGP ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 ClinVar PMID:19066229 PMID:21507883 PMID:24105752 NCBI chr19:54,816,468...54,830,778
Ensembl chr19:54,816,468...54,830,778 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 IAGP ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 ClinVar PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 More... NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 IAGP ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 OMIM
ClinVar		 PMID:2030859 PMID:10072436 PMID:10951527 PMID:11598368 PMID:12471053 More... NCBI chr19:54,923,515...54,966,243
Ensembl chr19:54,923,509...54,966,312 		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 IAGP ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2 ClinVar
OMIM		 PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 More... NCBI chr 6:73,362,658...73,364,171
Ensembl chr 6:73,362,658...73,364,171 		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 IAGP ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 OMIM
ClinVar		 PMID:25741868 PMID:30388401 NCBI chr22:41,699,503...41,799,454
Ensembl chr22:41,699,503...41,799,456 		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 IAGP ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 OMIM
ClinVar		 PMID:25741868 PMID:30388401 NCBI chr11:66,744,769...66,843,516
Ensembl chr11:66,744,451...66,843,516 		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 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ALB albumin disease_progression IEP RGD PMID:17195148 RGD:11036098 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr16:4,696,511...4,734,271
Ensembl chr16:4,696,510...4,734,378 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G C1orf105 chromosome 1 open reading frame 105 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 1:172,420,685...172,468,829
Ensembl chr 1:172,420,685...172,468,831 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CTSA cathepsin A IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr20:45,891,335...45,898,820
Ensembl chr20:45,890,144...45,898,949 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G DNAH14 dynein axonemal heavy chain 14 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:224,929,654...225,399,286
Ensembl chr 1:224,896,262...225,399,292 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748 		JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:65,576,053...65,592,650
Ensembl chr11:65,576,046...65,592,650 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FCRL4 Fc receptor like 4 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:157,573,747...157,598,085
Ensembl chr 1:157,573,747...157,598,085 		JBrowse link
G FEN1 flap structure-specific endonuclease 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:61,792,911...61,797,238
Ensembl chr11:61,792,911...61,797,238 		JBrowse link
G FOXC2 forkhead box C2 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		JBrowse link
G FOXP3 forkhead box P3 IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 More... NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G FZD6 frizzled class receptor 6 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 8:103,298,494...103,332,866
Ensembl chr 8:103,298,433...103,332,866 		JBrowse link
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 2:30,886,782...31,138,440
Ensembl chr 2:30,910,467...31,155,202 		JBrowse link
G GUSB glucuronidase beta IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 More... NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME
ClinVar Annotator: match by term: Non-immune hydrops fetalis		 ClinVar PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 More... NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HSALR1 HSP90AB1 associated lncRNA 1 IAGP 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 chr16:88,731,180...88,741,425 JBrowse link
G JAK3 Janus kinase 3 IAGP ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071 		JBrowse link
G KIF19 kinesin family member 19 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:74,326,226...74,355,820
Ensembl chr17:74,326,210...74,355,820 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LOC106804612 hemoglobin subunit alpha 2 recombination region IAGP ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME
ClinVar Annotator: match by term: Non-immune hydrops fetalis		 ClinVar PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 More... NCBI chr16:170,362...173,729 JBrowse link
G LOC126805881 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:157556896-157558095 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:157,587,106...157,588,305 JBrowse link
G LOC126860055 MED14-independent group 3 enhancer GRCh37_chr7:65432190-65433389 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:65,967,203...65,968,940 JBrowse link
G LOC126862505 BRD4-independent group 4 enhancer GRCh37_chr17:11572478-11573677 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 NCBI chr17:11,668,892...11,670,360 JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MOCS3 molybdenum cofactor synthesis 3 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr20:50,958,818...50,963,929
Ensembl chr20:50,958,818...50,963,929 		JBrowse link
G MYBPHL myosin binding protein H like IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:109,292,365...109,307,011
Ensembl chr 1:109,292,365...109,307,011 		JBrowse link
G MYO18A myosin XVIIIA IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr17:29,071,122...29,180,398
Ensembl chr17:29,071,122...29,180,398 		JBrowse link
G MYOM1 myomesin 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: MYOM1-related non-immune fetal hydrops		 ClinVar PMID:25741868 PMID:26036949 PMID:28492532 PMID:31130284 NCBI chr18:3,066,807...3,247,376
Ensembl chr18:3,066,807...3,219,968 		JBrowse link
G MYRF myelin regulatory factor IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518 		JBrowse link
G NEB nebulin IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:25741868 PMID:26036949 PMID:26841830 More... NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NEU1 neuraminidase 1 IAGP ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis		 ClinVar PMID:25741868 PMID:28492532 PMID:28619848 PMID:30187933 PMID:30244526 More... NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 1:172,441,457...172,444,069
Ensembl chr 1:172,370,189...172,444,086 		JBrowse link
G PRPF19 pre-mRNA processing factor 19 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr11:60,890,547...60,906,585
Ensembl chr11:60,890,547...60,906,585 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Fetal edema ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RIT1 Ras like without CAAX 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema		 ClinVar PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 More... NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404 		JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:11,179,759...11,345,437
Ensembl chr 2:11,179,759...11,348,330 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G RYR3 ryanodine receptor 3 IAGP ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G SERPINA11 serpin family A member 11 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr14:94,442,464...94,452,800
Ensembl chr14:94,442,464...94,452,800 		JBrowse link
G SFTPA1 surfactant protein A1 IEP protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 More... NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,045 		JBrowse link
G SVOPL SVOP like IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 7:138,594,285...138,701,362
Ensembl chr 7:138,594,285...138,701,362 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 PMID:28749478 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373 		JBrowse link
G UBN1 ubinuclein 1 IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:4,847,481...4,882,401
Ensembl chr16:4,846,665...4,882,401 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D IAGP ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047 		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 IAGP ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia ClinVar
OMIM		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LARS2-AS1 LARS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 3:45,482,695...45,509,545
Ensembl chr 3:45,483,974...45,509,545 		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 IAGP ClinVar Annotator: match by term: Hyperemesis gravidarum, susceptibility to OMIM
ClinVar		 PMID:35218128 PMID:38092039 NCBI chr19:18,386,158...18,389,176
Ensembl chr19:18,374,731...18,389,176 		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 IAGP
EXP		 ClinVar Annotator: match by term: IMAGe syndrome
ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 More... NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
IMAGEI Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130009266 ATAC-STARR-seq lymphoblastoid silent region 5123 IAGP 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 PMID:23263490 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27153395 More... NCBI chr12:132,686,793...132,688,102 JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
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 chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315 		JBrowse link
G HDAC3 histone deacetylase 3 severity IEP RGD PMID:28697498 RGD:14696655 NCBI chr 5:141,620,881...141,636,849
Ensembl chr 5:141,620,876...141,636,849 		JBrowse link
G IL18 interleukin 18 severity IEP RGD PMID:28697498 RGD:14696655 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045 		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 IAGP 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:20038848 More... NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315 		JBrowse link
G ATP8B1-AS1 ATP8B1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1
ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1		 ClinVar PMID:15888793 PMID:25741868 PMID:26126923 PMID:28492532 PMID:33223529 NCBI chr18:57,630,331...57,669,283
Ensembl chr18:57,629,870...57,738,678 		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 IAGP ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 ClinVar PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 More... NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 ClinVar
OMIM		 PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 More... NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G LOC129998756 ATAC-STARR-seq lymphoblastoid silent region 18347 IAGP ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 ClinVar PMID:25741868 NCBI chr 7:87,475,407...87,475,546 JBrowse link
G LOC129998757 ATAC-STARR-seq lymphoblastoid silent region 18348 IAGP ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 ClinVar PMID:25741868 NCBI chr 7:87,475,557...87,475,756 JBrowse link
kernicterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20194756 PMID:28167773 NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300 		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 IAGP ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G LDLRAD2 low density lipoprotein receptor class A domain containing 2 IAGP ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:21,812,265...21,825,225
Ensembl chr 1:21,812,265...21,825,225 		JBrowse link
G LOC126805655 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:22178409-22179608 IAGP ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:21,851,916...21,853,115 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 IAGP ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 7:114,922,094...115,019,917
Ensembl chr 7:114,922,094...115,019,917 		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 IAGP ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar		 PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373 		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 IAGP ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar		 PMID:25741868 NCBI chr 2:187,341,964...187,448,252
Ensembl chr 2:187,341,964...187,448,460 		JBrowse link
G CALCRL-AS1 CALCRL and TFPI antisense RNA 1 IAGP ClinVar Annotator: match by term: Lymphatic malformation 8 ClinVar PMID:25741868 NCBI chr 2:187,003,273...187,547,525
Ensembl chr 2:187,003,220...187,556,288 		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 chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CCL4 C-C motif chemokine ligand 4 IEP associated with HIV Infections RGD PMID:16250882 RGD:5683897 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16041010 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251 		JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:mammary gland: RGD PMID:21691936 RGD:7777124 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TLR9 toll like receptor 9 resistance ISO mRNA:increased expression:mammary gland (rat) RGD PMID:17321466 RGD:5130197 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645 		JBrowse link
Maternal Phenylketonuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAH phenylalanine hydroxylase IAGP RGD PMID:14654659 RGD:1601526 NCBI chr12:102,836,889...102,958,4