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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 Cd209b CD209b antigen susceptibility ISO associated with hepatitis B; DNA:: RGD PMID:22338216 RGD:39938980 NCBI chr 8:3,967,655...3,976,841
Ensembl chr 8:3,967,655...3,976,844 		JBrowse link
G Epo erythropoietin ISO associated with Pregnancy in Diabetes;protein:increased expression:amniotic fluid RGD PMID:15502930 RGD:2313897 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G Faah fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16886060 NCBI chr 4:115,853,866...115,876,034
Ensembl chr 4:115,824,342...115,875,123 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11932298 NCBI chr 8:106,245,378...106,250,620
Ensembl chr 8:106,245,387...106,250,620 		JBrowse link
G Jak2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19636672 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480 		JBrowse link
G Klrk1 killer cell lectin-like receptor subfamily K, member 1 treatment IEP associated with Animal Toxoplasmosis RGD PMID:28438315 RGD:39128164 NCBI chr 6:129,587,286...129,600,863
Ensembl chr 6:129,587,286...129,600,827 		JBrowse link
G Ncoa2 nuclear receptor coactivator 2 ISO mRNA:decreased expression:uterus (rat) RGD PMID:20660062 RGD:5688349 NCBI chr 1:13,209,329...13,444,451
Ensembl chr 1:13,209,329...13,444,307 		JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha susceptibility ISO associated with Cytomegalovirus Infections;DNA:SNP:promoter: -94ins/delATTG (human) RGD PMID:25792174 RGD:11342310 NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:10909993 RGD:13208506 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
Bowen-Conradi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bowen-Conradi syndrome
OMIM:211180		 OMIM
CTD
ClinVar
MouseDO		 PMID:19463982 PMID:25741868 PMID:28492532 NCBI chr 6:124,681,344...124,689,118
Ensembl chr 6:124,681,048...124,689,141 		JBrowse link
Cardiovascular Pregnancy Complications term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716473 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716473 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18926768 NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10716473 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 Eph receptor B4 ISO ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7 OMIM
ClinVar		 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 More... NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931 		JBrowse link
G Mdfic MyoD family inhibitor domain containing IAGP
ISO		 OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY		 MouseDO
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 6:15,720,660...15,802,168
Ensembl chr 6:15,720,660...15,802,168 		JBrowse link
G Slc12a9 solute carrier family 12 (potassium/chloride transporters), member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:137,312,820...137,338,331
Ensembl chr 5:137,312,820...137,331,859 		JBrowse link
chorioamnionitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO RGD PMID:22578261 RGD:6767308 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:villous trophoblast RGD PMID:12700199 RGD:12904022 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21493953 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il6 interleukin 6 ISO 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 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Lta lymphotoxin A severity ISO associated with Premature Birth;DNA:SNP:promoter:250G>A (human) RGD PMID:15128916 RGD:12904055 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility ISO DNA:polymorphism:exon:p.G54D(human) RGD PMID:15723707 RGD:12910932 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:12712078 RGD:13204828 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO protein:increased expression:amniotic fluid RGD PMID:19332995 RGD:4145137 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tnf tumor necrosis factor no_association
severity		 ISO 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 chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ISO associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid: RGD PMID:19591072 RGD:127229904 NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952 		JBrowse link
choriocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Igf2 insulin-like growth factor 2 disease_progression ISO RGD PMID:17556377 RGD:2290454 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Insr insulin receptor disease_progression ISO RGD PMID:17556377 RGD:2290454 NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome		 CTD
ClinVar		 PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr11:80,074,652...80,090,581
Ensembl chr11:80,074,677...80,090,583 		JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr 7:24,069,750...24,084,635
Ensembl chr 7:24,069,688...24,086,115 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068 		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 IMP RGD PMID:26419589 RGD:13792560 NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200 		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 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
ectopic pregnancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crisp3 cysteine-rich secretory protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19282327 NCBI chr17:40,532,668...40,553,179
Ensembl chr17:40,532,668...40,553,179 		JBrowse link
Embryo Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr10:128,533,807...128,540,920
Ensembl chr10:128,533,808...128,540,900 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 IMP associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:18384776 RGD:2306554 NCBI chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328 		JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12566075 NCBI chr10:79,883,000...79,892,273
Ensembl chr10:79,883,000...79,892,273 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17008600 NCBI chr19:4,336,029...4,356,356
Ensembl chr19:4,336,029...4,356,250 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO DNA:methylation: : RGD PMID:18778817 RGD:5509951 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Il18 interleukin 18 ISO RGD PMID:21920610 RGD:8655947 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Lcmt1 leucine carboxyl methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17724024 NCBI chr 7:122,977,026...123,029,581
Ensembl chr 7:122,969,007...123,029,581 		JBrowse link
G Lif leukemia inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23409146 NCBI chr11:4,207,587...4,222,514
Ensembl chr11:4,207,557...4,222,514 		JBrowse link
G Map3k7 mitogen-activated protein kinase kinase kinase 7 IMP RGD PMID:22972987 RGD:155663421 NCBI chr 4:31,963,659...32,023,470
Ensembl chr 4:31,964,097...32,023,467 		JBrowse link
G Mir105 microRNA 105 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr  X:71,635,106...71,635,185
Ensembl chr  X:71,635,106...71,635,185 		JBrowse link
G Nlrp5 NLR family, pyrin domain containing 5 ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality ClinVar NCBI chr 7:23,085,314...23,141,348
Ensembl chr 7:23,085,314...23,141,347 		JBrowse link
G Parg poly (ADP-ribose) glycohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15591342 NCBI chr14:31,923,900...32,020,671
Ensembl chr14:31,923,906...32,019,507 		JBrowse link
G Sall1 spalt like transcription factor 1 IMP RGD PMID:11688560 RGD:155641230 NCBI chr 8:89,753,867...89,770,790
Ensembl chr 8:89,753,863...89,770,790 		JBrowse link
G Sall4 spalt like transcription factor 4 IMP RGD PMID:16790473 RGD:155631313 NCBI chr 2:168,590,252...168,609,121
Ensembl chr 2:168,590,252...168,609,863 		JBrowse link
G Slc31a1 solute carrier family 31, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11391004 NCBI chr 4:62,278,821...62,310,006
Ensembl chr 4:62,278,964...62,310,006 		JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 IMP RGD PMID:22972987 RGD:155663421 NCBI chr10:7,781,412...7,832,039
Ensembl chr10:7,781,417...7,831,994 		JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a IMP RGD PMID:22972987 RGD:155663421 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447 		JBrowse link
G Ube2n ubiquitin-conjugating enzyme E2N ISO CTD Direct Evidence: marker/mechanism CTD PMID:16738225 NCBI chr10:95,351,024...95,381,520
Ensembl chr10:95,351,007...95,381,519 		JBrowse link
familial gestational hyperthyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: Familial gestational hyperthyroidism ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr12:90,965,264...91,351,207
Ensembl chr12:90,965,266...91,351,183 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial gestational hyperthyroidism		 CTD
ClinVar
OMIM		 PMID:7528344 PMID:8636266 PMID:8681963 PMID:8954020 PMID:8964822 More... NCBI chr12:91,367,767...91,507,283
Ensembl chr12:91,351,337...91,516,582 		JBrowse link
fetal akinesia deformation sequence syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence ClinVar PMID:25741868 PMID:33060286 NCBI chr 8:124,618,497...124,621,514
Ensembl chr 8:124,618,508...124,621,490 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2261499 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 More... NCBI chr 5:35,213,922...35,245,183
Ensembl chr 5:35,214,110...35,245,183 		JBrowse link
G Musk muscle, skeletal, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:9536098 PMID:15496425 PMID:17576681 PMID:23326516 PMID:24122059 More... NCBI chr 4:58,285,742...58,377,848
Ensembl chr 4:58,285,962...58,374,303 		JBrowse link
G Prg4 proteoglycan 4 (megakaryocyte stimulating factor, articular superficial zone protein) ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:150,325,163...150,341,916
Ensembl chr 1:150,325,163...150,341,916 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2245297 PMID:12651869 PMID:15145336 PMID:15282317 PMID:19620612 More... NCBI chr 2:90,864,594...90,876,074
Ensembl chr 2:90,865,965...90,876,074 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:23919265 More... NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G Vps13d vacuolar protein sorting 13D ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 4:144,597,619...144,921,598
Ensembl chr 4:144,699,192...144,921,575 		JBrowse link
fetal akinesia deformation sequence syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:91,033,157...91,044,443
Ensembl chr 2:91,033,230...91,044,443 		JBrowse link
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:19562689 PMID:25741868 PMID:28492532 PMID:31680123 PMID:33060286 NCBI chr 8:124,618,497...124,621,514
Ensembl chr 8:124,618,508...124,621,490 		JBrowse link
G Add1 adducin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652 		JBrowse link
G Adss1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123 NCBI chr12:112,586,481...112,607,789
Ensembl chr12:112,586,479...112,607,794 		JBrowse link
G Aldh5a1 aldhehyde dehydrogenase family 5, subfamily A1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr13:25,091,562...25,121,740
Ensembl chr13:25,091,562...25,121,644
Ensembl chr13:25,091,562...25,121,644 		JBrowse link
G Arfgap2 ARF GTPase activating protein 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:91,095,460...91,107,716
Ensembl chr 2:91,095,319...91,107,276 		JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:29140481 PMID:31680123 NCBI chr 8:41,793,683...41,850,681
Ensembl chr 8:41,793,234...41,827,810 		JBrowse link
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8677029 PMID:25741868 PMID:28749478 PMID:31680123 NCBI chr10:59,838,414...59,935,812
Ensembl chr10:59,838,627...59,935,810 		JBrowse link
G Aspm abnormal spindle microtubule assembly ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829 		JBrowse link
G Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr  X:72,546,356...72,632,267
Ensembl chr  X:72,546,692...72,614,611 		JBrowse link
G Aven apoptosis, caspase activation inhibitor ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:112,323,231...112,461,598
Ensembl chr 2:112,323,309...112,464,918 		JBrowse link
G Bltp1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:36,917,212...37,107,182
Ensembl chr 3:36,917,253...37,107,182 		JBrowse link
G Chrnd cholinergic receptor, nicotinic, delta polypeptide ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:87,118,319...87,127,792
Ensembl chr 1:87,118,329...87,127,792 		JBrowse link
G Cntnap1 contactin associated protein-like 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr11:101,065,429...101,081,550
Ensembl chr11:101,061,349...101,081,550 		JBrowse link
G Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:91,103,585...91,275,059
Ensembl chr 2:91,105,413...91,275,049 		JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:91,041,924...91,067,465
Ensembl chr 2:91,041,917...91,067,327 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 More... NCBI chr 5:35,213,922...35,245,183
Ensembl chr 5:35,214,110...35,245,183 		JBrowse link
G Dqx1 DEAQ RNA-dependent ATPase ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 6:83,034,728...83,044,294
Ensembl chr 6:83,034,825...83,044,299 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379 		JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 7:121,633,385...121,666,436
Ensembl chr 7:121,636,436...121,666,486 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 More... NCBI chr 4:45,316,613...45,320,616
Ensembl chr 4:45,316,613...45,342,732 		JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr15:85,090,150...85,170,495
Ensembl chr15:85,090,150...85,170,736 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25558065 NCBI chr18:58,141,689...58,343,200
Ensembl chr18:58,141,695...58,343,559 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr16:70,110,837...70,366,608
Ensembl chr16:70,110,837...70,366,604 		JBrowse link
G Gcn1 GCN1 activator of EIF2AK4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 5:115,703,177...115,760,713
Ensembl chr 5:115,703,313...115,760,713 		JBrowse link
G Gfra4 glial cell line derived neurotrophic factor family receptor alpha 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:130,881,552...130,885,008
Ensembl chr 2:130,881,552...130,885,008 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28726266 PMID:31680123 PMID:32812332 NCBI chr 9:54,193,770...54,249,061
Ensembl chr 9:54,193,770...54,249,070 		JBrowse link
G Grk4 G protein-coupled receptor kinase 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 5:34,817,641...34,912,649
Ensembl chr 5:34,817,723...34,912,649 		JBrowse link
G Hgfac hepatocyte growth factor activator ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 5:35,198,853...35,205,805
Ensembl chr 5:35,198,853...35,205,805 		JBrowse link
G Htt huntingtin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 5:34,919,084...35,069,878
Ensembl chr 5:34,919,084...35,069,878 		JBrowse link
G Iqsec3 IQ motif and Sec7 domain 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 6:121,349,886...121,450,697
Ensembl chr 6:121,349,892...121,450,637 		JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:30,758,360...30,770,347
Ensembl chr 7:30,758,767...30,770,360 		JBrowse link
G Lrp4 low density lipoprotein receptor-related protein 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:91,287,794...91,344,246
Ensembl chr 2:91,287,856...91,344,124 		JBrowse link
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:90,967,705...91,013,404
Ensembl chr 2:90,967,705...91,014,182 		JBrowse link
G Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:103,920,575...104,127,722
Ensembl chr 3:103,920,575...104,127,690 		JBrowse link
G Mfsd10 major facilitator superfamily domain containing 10 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 5:34,790,988...34,794,558
Ensembl chr 5:34,790,986...34,794,556 		JBrowse link
G Msantd1 Myb/SANT-like DNA-binding domain containing 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 5:35,071,581...35,084,333
Ensembl chr 5:35,065,356...35,081,183 		JBrowse link
G Musk muscle, skeletal, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 More... NCBI chr 4:58,285,742...58,377,848
Ensembl chr 4:58,285,962...58,374,303 		JBrowse link
G Mybpc3 myosin binding protein C, cardiac ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:90,948,459...90,966,862
Ensembl chr 2:90,948,489...90,966,861 		JBrowse link
G Naga N-acetyl galactosaminidase, alpha ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr15:82,213,746...82,222,983
Ensembl chr15:82,213,733...82,223,126 		JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:27214504 PMID:31680123 NCBI chr14:123,514,046...123,864,846
Ensembl chr14:123,514,046...123,864,556 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16138229 PMID:23656349 PMID:24033266 PMID:25326637 PMID:25741868 More... NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Nop14 NOP14 nucleolar protein ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 5:34,795,880...34,817,566
Ensembl chr 5:34,795,880...34,817,492 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:91,014,406...91,033,189
Ensembl chr 2:91,014,406...91,033,179 		JBrowse link
G Pacsin3 protein kinase C and casein kinase substrate in neurons 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:91,086,215...91,095,025
Ensembl chr 2:91,086,299...91,095,024 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More... NCBI chr18:63,143,284...63,520,787
Ensembl chr18:63,143,284...63,520,254 		JBrowse link
G Prg4 proteoglycan 4 (megakaryocyte stimulating factor, articular superficial zone protein) ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:150,325,163...150,341,916
Ensembl chr 1:150,325,163...150,341,916 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr15:93,396,992...93,494,147
Ensembl chr15:93,396,995...93,493,772 		JBrowse link
G Psmc3 proteasome (prosome, macropain) 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:90,884,361...90,889,783
Ensembl chr 2:90,884,354...90,896,714 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders
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 chr 2:90,864,594...90,876,074
Ensembl chr 2:90,865,965...90,876,074 		JBrowse link
G Rgs12 regulator of G-protein signaling 12 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 5:35,106,273...35,196,988
Ensembl chr 5:35,106,789...35,196,988 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr13:53,263,353...53,440,160
Ensembl chr13:53,263,348...53,440,160 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:23919265 More... NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:112,461,699...113,047,755
Ensembl chr 2:112,461,700...113,047,441 		JBrowse link
G Scn4a sodium channel, voltage-gated, type IV, alpha ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr11:106,208,374...106,256,385
Ensembl chr11:106,209,418...106,244,114 		JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 9:119,312,470...119,408,096
Ensembl chr 9:119,312,474...119,408,082 		JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 More... NCBI chr18:78,793,593...79,153,659
Ensembl chr18:78,793,595...79,152,606 		JBrowse link
G Sh3bp2 SH3-domain binding protein 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 5:34,683,128...34,720,983
Ensembl chr 5:34,683,182...34,720,985 		JBrowse link
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:90,892,136...90,900,754
Ensembl chr 2:90,892,136...90,900,762 		JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:69,866,031...70,764,291
Ensembl chr 1:69,866,129...70,764,291 		JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 2:90,912,750...90,946,104
Ensembl chr 2:90,912,735...90,946,101 		JBrowse link
G Svep1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 4:58,042,796...58,206,596
Ensembl chr 4:58,042,442...58,206,859 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr10:90,983,433...91,017,614
Ensembl chr10:90,983,433...91,017,177 		JBrowse link
G Txn1 thioredoxin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 4:57,943,373...57,956,411
Ensembl chr 4:57,943,373...57,956,411 		JBrowse link
G Txndc8 thioredoxin domain containing 8 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 4:57,984,029...58,009,126
Ensembl chr 4:57,984,027...58,009,124 		JBrowse link
G Unc50 unc-50 homolog ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:37,469,220...37,478,068
Ensembl chr 1:37,469,220...37,478,205 		JBrowse link
G Vps13d vacuolar protein sorting 13D ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 4:144,597,619...144,921,598
Ensembl chr 4:144,699,192...144,921,575 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:44,873,523...45,007,378
Ensembl chr 2:44,873,644...45,007,407 		JBrowse link
fetal akinesia deformation sequence syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 OMIM
ClinVar		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr 2:90,864,594...90,876,074
Ensembl chr 2:90,865,965...90,876,074 		JBrowse link
fetal akinesia deformation sequence syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 ClinVar PMID:25741868 NCBI chr 4:98,824,669...99,019,190
Ensembl chr 4:98,824,908...99,009,152 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 OMIM
ClinVar		 PMID:2261499 PMID:9536098 PMID:16199547 PMID:16794080 PMID:16917026 More... NCBI chr 5:35,213,922...35,245,183
Ensembl chr 5:35,214,110...35,245,183 		JBrowse link
fetal akinesia deformation sequence syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup88 nucleoporin 88 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 OMIM
ClinVar		 PMID:25741868 PMID:30543681 NCBI chr11:70,833,884...70,860,799
Ensembl chr11:70,833,884...70,860,799 		JBrowse link
G Rabep1 rabaptin, RAB GTPase binding effector protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 ClinVar PMID:25741868 NCBI chr11:70,735,553...70,833,931
Ensembl chr11:70,735,604...70,833,931 		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, epithelial ISO CTD Direct Evidence: marker/mechanism CTD PMID:29109170 NCBI chr10:69,234,608...69,863,266
Ensembl chr10:69,234,603...69,863,268 		JBrowse link
G Apoe apolipoprotein E IMP RGD PMID:15007105 RGD:12904641 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Bpifa1 BPI fold containing family A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15513904 NCBI chr 2:153,984,800...153,991,137
Ensembl chr 2:153,984,800...153,991,139 		JBrowse link
G C3 complement component 3 ISO protein:increased activity:blood RGD PMID:30657461 RGD:408418720 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:26074427 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		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 chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349 		JBrowse link
G Dio3 deiodinase, iodothyronine type III treatment ISO RGD PMID:23763370 RGD:13432044 NCBI chr12:110,245,664...110,247,531
Ensembl chr12:110,245,502...110,247,531 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO mRNA,protein:increased expression:Pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		JBrowse link
G Dnmt3b DNA methyltransferase 3B ISO mRNA:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650 		JBrowse link
G Drd2 dopamine receptor D2 ISO DNA:Hypermethylation:promoter
mRNA:decreased expression: pituitary gland (rat)		 RGD PMID:26509893 PMID:28710248 RGD:11344152, RGD:401960105 NCBI chr 9:49,251,703...49,319,468
Ensembl chr 9:49,251,927...49,319,477 		JBrowse link
G Ehmt2 euchromatic histone lysine N-methyltransferase 2 ISO mRNA:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr17:35,117,427...35,133,049
Ensembl chr17:35,117,445...35,133,028 		JBrowse link
G Gabrb3 GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3 treatment
sexual_dimorphism		 ISO
IEP		 in male mice only; mRNA:increased expression:frontal cortex: RGD PMID:23763370 PMID:30312858 RGD:13432044, RGD:405866345 NCBI chr 7:57,240,266...57,478,550
Ensembl chr 7:57,069,440...57,478,550 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor, subunit gamma 2 ISO mRNA:increased expression:posterior hypothalamic region (rat) RGD PMID:18514412 RGD:402528884 NCBI chr11:41,801,017...41,891,684
Ensembl chr11:41,801,030...41,891,684 		JBrowse link
G Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) treatment ISO RGD PMID:22037411 PMID:23763370 RGD:13210751, RGD:13432044 NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509 		JBrowse link
G Hc hemolytic complement ISO protein:increased activity:blood RGD PMID:30657461 RGD:408418720 NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450 		JBrowse link
G Hdac2 histone deacetylase 2 ISO mRNA,protein:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr10:36,850,293...36,877,885
Ensembl chr10:36,850,540...36,877,885 		JBrowse link
G Hdac4 histone deacetylase 4 ISO mRNA,protein:increased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO protein:increased expression:placenta (rat) RGD PMID:26342748 RGD:401965481 NCBI chr 8:106,245,378...106,250,620
Ensembl chr 8:106,245,387...106,250,620 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA:decreased expression:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO protein:decreased activity:cerebellum (rat) RGD PMID:16909201 RGD:12904886 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chr 6:72,409,779...72,416,539
Ensembl chr 6:72,409,782...72,416,541 		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:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		JBrowse link
G Mir326 microRNA 326 ISO miRNA:increases expression:pituitary gland (rat) RGD PMID:28710248 RGD:401960105 NCBI chr 7:99,201,476...99,201,570
Ensembl chr 7:99,201,476...99,201,570 		JBrowse link
G Mir7b microRNA 7b ISO miRNA:increased expression:pituitary gland (rat) RGD PMID:28710248 RGD:401960105 NCBI chr17:56,549,988...56,550,098
Ensembl chr17:56,549,988...56,550,098 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999 		JBrowse link
G Nos1 nitric oxide synthase 1, neuronal ISO CTD Direct Evidence: marker/mechanism CTD PMID:25511929 NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 sexual_dimorphism ISO associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat) RGD PMID:29251811 RGD:401965484 NCBI chr 8:77,626,422...77,971,641
Ensembl chr 8:77,626,070...77,971,641 		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 1:5,658,673...5,676,357
Ensembl chr 1:5,658,689...5,676,354 		JBrowse link
G Oprl1 opioid receptor-like 1 ISO mRNA:decreased expression:ventral tegmental area RGD PMID:29678771 RGD:401851055 NCBI chr 2:181,356,585...181,362,778
Ensembl chr 2:181,356,809...181,362,778 		JBrowse link
G Pdyn prodynorphin ISO DNA, mRNA:hypomethylation, altered expression:ventral tegmental area, nucleus accumbens RGD PMID:29678771 RGD:401851055 NCBI chr 2:129,528,469...129,541,858
Ensembl chr 2:129,528,485...129,541,764 		JBrowse link
G Per2 period circadian clock 2 treatment ISO RGD PMID:31329297 RGD:405878078 NCBI chr 1:91,343,699...91,387,028
Ensembl chr 1:91,343,704...91,387,046 		JBrowse link
G Pnoc prepronociceptin ISO mRNA:increased expression:nucleus accumbens RGD PMID:29678771 RGD:401851055 NCBI chr14:65,638,931...65,662,908
Ensembl chr14:65,638,122...65,662,921 		JBrowse link
G Pomc pro-opiomelanocortin-alpha treatment ISO RGD PMID:31329297 RGD:405878078 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642 		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 chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188 		JBrowse link
G Pten phosphatase and tensin homolog ISO Protein:increased expression, increased activity:cerebellum (rat) RGD PMID:12700235 RGD:12801493 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 treatment ISO RGD PMID:23763370 RGD:13432044 NCBI chr 9:89,791,565...89,909,032
Ensembl chr 9:89,791,961...89,909,030 		JBrowse link
G Rps6ka1 ribosomal protein S6 kinase polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29109170 NCBI chr 4:133,574,601...133,615,466
Ensembl chr 4:133,574,601...133,615,108 		JBrowse link
G Setd7 SET domain containing (lysine methyltransferase) 7 ISO mRNA:decreased expression:pituitary gland (rat) RGD PMID:26509893 RGD:11344152 NCBI chr 3:51,422,740...51,468,519
Ensembl chr 3:51,422,740...51,468,300 		JBrowse link
G Slc25a12 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 treatment ISO RGD PMID:23763370 RGD:13432044 NCBI chr 2:71,104,614...71,198,125
Ensembl chr 2:71,101,407...71,198,093 		JBrowse link
G Slc6a4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 ISO mRNA:decreased expression:brain (rat) RGD PMID:26180184 RGD:11074449 NCBI chr11:76,889,423...76,923,169
Ensembl chr11:76,889,429...76,923,166 		JBrowse link
G Tlr4 toll-like receptor 4 ameliorates IMP RGD PMID:30312858 RGD:405866345 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Ube3a ubiquitin protein ligase E3A treatment ISO RGD PMID:23763370 RGD:13432044 NCBI chr 7:58,871,891...58,960,585
Ensembl chr 7:58,878,498...58,961,284 		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 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133 		JBrowse link
Fetal Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:11085286 RGD:11038921 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Ahsp alpha hemoglobin stabilizing protein ISO mRNA, protein:decreased expression:placenta (human) RGD PMID:18347943 RGD:329956422 NCBI chr 7:127,902,016...127,902,926
Ensembl chr 7:127,901,969...127,902,930 		JBrowse link
G Atr ataxia telangiectasia and Rad3 related IGI RGD PMID:15282542 RGD:150340675 NCBI chr 9:95,739,655...95,834,813
Ensembl chr 9:95,739,650...95,833,834 		JBrowse link
G F5 coagulation factor V no_association ISO RGD PMID:14706682 RGD:1580130 NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846 		JBrowse link
G Grhl3 grainyhead like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6635991 NCBI chr 4:135,269,199...135,300,943
Ensembl chr 4:135,269,199...135,300,941 		JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) IMP RGD PMID:20393889 RGD:12910472 NCBI chr 1:55,116,992...55,127,402
Ensembl chr 1:55,116,994...55,127,402 		JBrowse link
G Lpar1 lysophosphatidic acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11087877 NCBI chr 4:58,435,252...58,554,601
Ensembl chr 4:58,435,255...58,553,898 		JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985 		JBrowse link
G Oxt oxytocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:5067144 NCBI chr 2:130,416,432...130,418,974
Ensembl chr 2:130,418,093...130,418,974 		JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:11023856 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876 		JBrowse link
G Rdh10 retinol dehydrogenase 10 (all-trans) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793605 NCBI chr 1:16,176,106...16,202,774
Ensembl chr 1:16,175,998...16,203,958 		JBrowse link
G Tfpi tissue factor pathway inhibitor IMP associated with Hemorrhage; RGD PMID:9242522 RGD:11060259 NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO associated with Endotoxemia; human protein in rat model RGD PMID:21187445 RGD:5131261 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
Fetal Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk conserved helix-loop-helix ubiquitous kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10195895 PMID:10195896 PMID:10346820 PMID:20961246 NCBI chr19:44,061,773...44,095,940
Ensembl chr19:44,061,774...44,095,919 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible IMP associated with Diabetes Mellitus, Experimental RGD PMID:19283362 RGD:2313217 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Prkcb protein kinase C, beta ISO associated with Diabetes Mellitus, Experimental;protein:increased expression RGD PMID:15496608 RGD:1625524 NCBI chr 7:121,888,327...122,233,625
Ensembl chr 7:121,887,974...122,233,625 		JBrowse link
G Prss8 serine protease 8 (prostasin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:22705055 NCBI chr 7:127,524,889...127,529,266
Ensembl chr 7:127,524,888...127,529,276 		JBrowse link
fetal encasement syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk conserved helix-loop-helix ubiquitous kinase ISO
IAGP		 OMIM:613630
ClinVar Annotator: match by term: Cocoon syndrome		 OMIM
MouseDO
ClinVar		 PMID:20961246 NCBI chr19:44,061,773...44,095,940
Ensembl chr19:44,061,774...44,095,919 		JBrowse link
Fetal Growth Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A ISO mRNA:increased expression:placenta RGD PMID:16225763 RGD:2306659 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Ace angiotensin I converting enzyme ISO mRNA:increased expression:kidney (rat) RGD PMID:24847689 RGD:12879387 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Acta2 actin alpha 2, smooth muscle, aorta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr19:34,217,736...34,232,985
Ensembl chr19:34,218,490...34,232,990 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778 		JBrowse link
G Adipor1 adiponectin receptor 1 treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chr 1:134,343,116...134,361,089
Ensembl chr 1:134,343,116...134,361,089 		JBrowse link
G Adipor2 adiponectin receptor 2 treatment ISO RGD PMID:23533720 RGD:8695947 NCBI chr 6:119,330,111...119,394,489
Ensembl chr 6:119,330,111...119,394,665 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:kidney,urine:		 CTD
RGD		 PMID:17537837 PMID:20530295 PMID:26270574 RGD:13432363, RGD:11538508 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO RGD PMID:21303825 RGD:5129179 NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:21303825 RGD:5129179 NCBI chr  X:21,350,863...21,355,072
Ensembl chr  X:21,350,783...21,355,403 		JBrowse link
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) RGD PMID:26320891 RGD:13434923 NCBI chr19:40,538,701...40,576,907
Ensembl chr19:40,538,701...40,576,907 		JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO protein:increased expression:serum (human) RGD PMID:25724728 RGD:14696679 NCBI chr 2:25,162,469...25,175,928
Ensembl chr 2:25,162,490...25,175,927 		JBrowse link
G Apoe apolipoprotein E ISO mRNA:increased expression:adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Apoh apolipoprotein H IDA RGD PMID:24642748 RGD:10054118 NCBI chr11:108,286,123...108,305,222
Ensembl chr11:108,234,180...108,305,222 		JBrowse link
G Arg1 arginase, liver ISO RNA:increased expression:thoracic aorta: RGD PMID:29741931 RGD:13792602 NCBI chr10:24,791,105...24,803,368
Ensembl chr10:24,791,119...24,803,382 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO protein:increased expression:retroperitoneal fat pad (rat) RGD PMID:26633942 RGD:13703049 NCBI chr18:77,861,468...77,870,569
Ensembl chr18:77,861,429...77,870,569 		JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO protein:decreased expression:liver (rat) RGD PMID:26342040 RGD:13782135 NCBI chr10:127,919,176...127,926,257
Ensembl chr10:127,919,142...127,926,260 		JBrowse link
G Bax BCL2-associated X protein treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:22710965 RGD:9068402 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit ISO protein:decreased expression:pancreas (rat) RGD PMID:20873977 RGD:152985538 NCBI chr 6:118,564,201...119,174,345
Ensembl chr 6:118,564,201...119,173,851 		JBrowse link
G Cacna1d calcium channel, voltage-dependent, L type, alpha 1D subunit ISO protein:decreased expression:pancreas (rat) RGD PMID:20873977 RGD:152985538 NCBI chr14:29,761,898...30,213,113
Ensembl chr14:29,761,896...30,213,412 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO RGD PMID:3973436 RGD:2303532 NCBI chr 5:31,211,964...31,235,823
Ensembl chr 5:31,212,124...31,235,823 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:22932950 RGD:10054114 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724 		JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO mRNA:decreased expression:distal epiphyseal plate of femur (rat) RGD PMID:22995397 RGD:8661261 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23667712 NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602 		JBrowse link
G Cps1 carbamoyl-phosphate synthetase 1 ISO RGD PMID:3973436 RGD:2303532 NCBI chr 1:67,151,294...67,270,426
Ensembl chr 1:67,162,185...67,270,418 		JBrowse link
G Cth cystathionine gamma lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 3:157,599,885...157,630,718
Ensembl chr 3:157,599,885...157,630,714 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO mRNA:increased expression:adrenal gland, maternal (rat) RGD PMID:17881205 RGD:4832477 NCBI chr 9:57,905,307...57,934,314
Ensembl chr 9:57,913,694...57,934,306 		JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 ISO protein:decreased expression:fetus, adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chr15:74,706,741...74,713,492
Ensembl chr15:74,705,974...74,713,492 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO mRNA:increased expression:fetus, adrenal gland (rat) RGD PMID:19923365 RGD:4891147 NCBI chr15:74,722,467...74,728,080
Ensembl chr15:74,722,467...74,728,167 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO mRNA:increased expression:placenta RGD PMID:16225763 PMID:17706398 PMID:18442069 RGD:2306659, RGD:11576317, RGD:11576311 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107 		JBrowse link
G Ddx23 DEAD box helicase 23 ISO ClinVar Annotator: match by term: Intrauterine growth retardation ClinVar PMID:25741868 PMID:34050707 NCBI chr15:98,543,012...98,560,808
Ensembl chr15:98,543,015...98,560,775 		JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223 		JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27776119 NCBI chr12:109,418,411...109,429,262
Ensembl chr12:109,418,749...109,429,262 		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 chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		JBrowse link
G Dnmt3b DNA methyltransferase 3B ISO mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650 		JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO RGD PMID:12487923 RGD:7771581 NCBI chr17:26,724,565...26,727,446
Ensembl chr17:26,724,564...26,781,102 		JBrowse link
G Dusp5 dual specificity phosphatase 5 ISO RGD PMID:16940436 RGD:2317872 NCBI chr19:53,517,576...53,530,240
Ensembl chr19:53,517,540...53,530,862 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Intrauterine growth restriction ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 More... NCBI chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446 		JBrowse link
G Elk1 ELK1, member of ETS oncogene family ISO mRNA:decreased expression:placenta RGD PMID:20008130 RGD:7488901 NCBI chr  X:20,799,634...20,816,847
Ensembl chr  X:20,799,634...20,816,847 		JBrowse link
G Esrrg estrogen-related receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:35220427 NCBI chr 1:187,340,707...187,947,082
Ensembl chr 1:187,340,988...187,947,082 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO associated with Pre-Eclampsia;DNA:SNP:promoter:-670A>G (human)
associated with protein:increased expression:serum:		 RGD PMID:15695771 PMID:16169656 RGD:12903973, RGD:12904025 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fasl Fas ligand severity ISO protein:increased expression:amniotic fluid:
associated with protein:increased expression:serum:		 RGD PMID:23582102 PMID:16169656 RGD:12903972, RGD:12904025 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G Fos FBJ osteosarcoma oncogene treatment ISO RGD PMID:26322574 RGD:405650593 NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO mRNA:decreased expression:placenta
mRNA:decreased expression:chorionic villus 		RGD PMID:25054679 PMID:25054679 RGD:329955538, RGD:329955538 NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067 		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 chr11:101,258,542...101,268,729
Ensembl chr11:101,258,387...101,268,729 		JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO mRNA, protein:decreased expression:kidney RGD PMID:25986755 RGD:405866360 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056 		JBrowse link
G Ghrl ghrelin disease_progression ISO RGD PMID:20637157 RGD:12904883 NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841 		JBrowse link
G Ghsr growth hormone secretagogue receptor disease_progression ISO RGD PMID:20637157 RGD:12904883 NCBI chr 3:27,425,500...27,433,384
Ensembl chr 3:27,425,500...27,432,159 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19500843 NCBI chr14:34,032,684...34,066,990
Ensembl chr14:34,032,684...34,067,222 		JBrowse link
G Gria1 glutamate receptor, ionotropic, AMPA1 (alpha 1) ISO protein:decreased expression:cerebral cortical neuron (rat) RGD PMID:20398734 RGD:4107070 NCBI chr11:56,902,342...57,221,070
Ensembl chr11:56,902,213...57,221,070 		JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO protein:decreased expression:cerebral cortical neuron (rat) RGD PMID:20398734 RGD:4107070 NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424 		JBrowse link
G Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) treatment ISO RGD PMID:20423831 RGD:13210763 NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:22310945 PMID:19147266 RGD:10450795, RGD:12792219 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO DNA:deletion, haplotype:: (human)
DNA:deletion:: (human)		 RGD PMID:22310945 PMID:19147266 RGD:10450795, RGD:12792219 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO mRNA:decreased expression RGD PMID:11124150 RGD:1599884 NCBI chr 5:30,324,421...30,359,978
Ensembl chr 5:30,323,302...30,360,160 		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 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506 		JBrowse link
G Hdac2 histone deacetylase 2 ISO mRNA:increased expression:adrenal gland: RGD PMID:24717552 RGD:9590296 NCBI chr10:36,850,293...36,877,885
Ensembl chr10:36,850,540...36,877,885 		JBrowse link
G Hnf4a hepatic nuclear factor 4, alpha ISO DNA:altered methylation:prompter: RGD PMID:20126273 RGD:12904699 NCBI chr 2:163,348,731...163,414,827
Ensembl chr 2:163,348,728...163,414,830 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney RGD PMID:17272666 RGD:2308941 NCBI chr 8:106,245,378...106,250,620
Ensembl chr 8:106,245,387...106,250,620 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment
onset		 ISO 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 chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igf1r insulin-like growth factor I receptor onset ISO DNA:point mutation:exon:p.R108Q, p.K115N (human)
protein:increased expression:liver, lung (rat)
protein:decreased expression:placenta labyrinth (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:14657428 PMID:14657428 PMID:12536576 PMID:24239160 RGD:1624299, RGD:12904724, RGD:12904720 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism
mRNA:altered expresssion:liver,placenta:		 CTD
RGD		 PMID:12087403 PMID:16040806 PMID:1408464 RGD:14985247 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO mRNA:increased expresssion:fetus: RGD PMID:1408464 RGD:14985247 NCBI chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO 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 chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923 		JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Irs1 insulin receptor substrate 1 ISO mRNA,protein:decreased expression:growth plate: RGD PMID:22995397 RGD:8661261 NCBI chr 1:82,210,826...82,269,160
Ensembl chr 1:82,210,822...82,269,137 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO RGD PMID:20720385 RGD:7257699 NCBI chr 8:11,034,681...11,058,929
Ensembl chr 8:11,034,681...11,058,458 		JBrowse link
G Lep leptin ISO RGD PMID:21353474 RGD:5128507 NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876 		JBrowse link
G Mdm2 transformed mouse 3T3 cell double minute 2 ISO mRNA:decreased expression:cerebrum (rat) RGD PMID:15563574 RGD:2317395 NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO mRNA,protein:decreased expression:hippocampus: RGD PMID:16380407 RGD:9588242 NCBI chr  X:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:28157488 PMID:17367869 RGD:13204803 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase susceptibility IMP
ISO		 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 chr12:76,301,180...76,366,594
Ensembl chr12:76,302,072...76,366,577 		JBrowse link
G Muc1 mucin 1, transmembrane ISO RGD PMID:19287349 RGD:7349369 NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688 		JBrowse link
G Muc2 mucin 2 ISO RGD PMID:19287349 RGD:7349369 NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430 		JBrowse link
G Muc4 mucin 4 ISO RGD PMID:19287349 RGD:7349369 NCBI chr16:32,555,089...32,602,786
Ensembl chr16:32,555,015...32,602,754 		JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 treatment ISO protein:decreased expression:placenta RGD PMID:23910525 PMID:25171874 PMID:25171874 RGD:10412716, RGD:26884462, RGD:26884462 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985 		JBrowse link
G Nos1 nitric oxide synthase 1, neuronal ISO associated with hyperinsulinemia; protein:decreased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO associated with hyperinsulinemia; protein:increased expression:placenta RGD PMID:19709742 RGD:5132592 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO 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 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		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 chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474 		JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr 4:108,436,651...108,472,030
Ensembl chr 4:108,436,620...108,472,030 		JBrowse link
G Otc ornithine transcarbamylase ISO mRNA:altered expression:liver (rat) RGD PMID:8929856 RGD:4144077 NCBI chr  X:10,118,584...10,187,275
Ensembl chr  X:10,118,544...10,187,263 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1, cytosolic ISO mRNA:decreased expression:liver: RGD PMID:12538794 RGD:10448276 NCBI chr 2:172,994,866...173,001,067
Ensembl chr 2:172,994,841...173,001,066 		JBrowse link
G Pdgfa platelet derived growth factor, alpha ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr 5:138,961,761...138,986,336
Ensembl chr 5:138,961,769...138,983,125 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO mRNA:increased expression:placenta RGD PMID:11005132 RGD:2311066 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO mRNA:decreased expression:pancreatic islet RGD PMID:18464933 RGD:2311214 NCBI chr 5:147,206,907...147,212,658
Ensembl chr 5:147,206,769...147,212,658 		JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO mRNA, protein:decreased expression:hypothalamus RGD PMID:19390493 RGD:407580521 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO mRNA:decreased expression:lung (rat) RGD PMID:21425435 RGD:8552971 NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360 		JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO mRNA, protein:increased expression:liver (rat) RGD PMID:18433551 RGD:10059649 NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068 		JBrowse link
G Prdx6 peroxiredoxin 6 ISO protein:decreased expression:placenta RGD PMID:25171874 PMID:25171874 RGD:26884462, RGD:26884462 NCBI chr 1:161,067,682...161,078,780
Ensembl chr 1:161,067,682...161,078,789 		JBrowse link
G Ptger3 prostaglandin E receptor 3 (subtype EP3) ISO mRNA, protein:increased expression:placenta (rat) RGD PMID:15990166 RGD:10043194 NCBI chr 3:157,272,459...157,350,392
Ensembl chr 3:157,272,529...157,351,525 		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 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 treatment ISO with postnatal growth restriction RGD PMID:19491300 RGD:12743586 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Rbp1 retinol binding protein 1, cellular ISO CTD Direct Evidence: marker/mechanism CTD PMID:28157488 NCBI chr 9:98,305,014...98,328,604
Ensembl chr 9:98,305,014...98,328,628 		JBrowse link
G Ren1 renin 1 structural ISO CTD Direct Evidence: marker/mechanism CTD PMID:17537837 NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO associated with Pre-Eclampsia;protein:increased expression:plasma,placenta: RGD PMID:8018914 RGD:13208595 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Sin3a transcriptional regulator, SIN3A (yeast) ISO RGD PMID:18464933 RGD:2311214 NCBI chr 9:56,979,271...57,035,652
Ensembl chr 9:56,979,324...57,035,650 		JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO protein:increased expression:placenta
mRNA, protein:increased expression:liver		 RGD PMID:11738800 PMID:9886959 RGD:730192, RGD:12879480 NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180 		JBrowse link
G Slc2a2 solute carrier family 2 (facilitated glucose transporter), member 2 ISO mRNA, protein:decreased expression:liver RGD PMID:9886959 RGD:12879480 NCBI chr 3:28,752,052...28,782,510
Ensembl chr 3:28,752,052...28,785,508 		JBrowse link
G Slc2a3 solute carrier family 2 (facilitated glucose transporter), member 3 ISO protein:increased expression:placenta RGD PMID:11738800 RGD:730192 NCBI chr 6:122,704,783...122,779,149
Ensembl chr 6:122,704,768...122,778,599 		JBrowse link
G Slc38a2 solute carrier family 38, member 2 ISO mRNA, protein:decreased expression:placenta RGD PMID:21812961 RGD:9999212 NCBI chr15:96,585,267...96,597,609
Ensembl chr15:96,585,273...96,597,611 		JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:21893188 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO RGD PMID:19017816 RGD:2308805 NCBI chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407 		JBrowse link
G Star steroidogenic acute regulatory protein ISO mRNA:increased expression:adrenal gland, maternal (rat) RGD PMID:17881205 RGD:4832477 NCBI chr 8:26,298,502...26,306,010
Ensembl chr 8:26,296,583...26,306,010 		JBrowse link
G Tff3 trefoil factor 3, intestinal ISO RGD PMID:19287349 RGD:7349369 NCBI chr17:31,344,280...31,348,585
Ensembl chr17:31,344,280...31,348,620 		JBrowse link
G Unc13a unc-13 homolog A ISO RGD PMID:18787382 RGD:5686390 NCBI chr 8:72,079,356...72,124,418
Ensembl chr 8:72,077,061...72,124,401 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO mRNA,protein:decreased expression:placenta: RGD PMID:25716068 RGD:11058690 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Intrauterine growth restriction ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191 		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 3:19,747,565...19,749,560
Ensembl chr 3:19,747,565...19,749,560 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO protein:increased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349 		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 6:55,067,033...55,110,001
Ensembl chr 6:55,067,034...55,110,001 		JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:23427086 RGD:10395301 NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO protein:increased expression:heart (rat) RGD PMID:21856922 RGD:7207283 NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO protein:altered expression:heart (rat) RGD PMID:21856922 RGD:7207283 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO protein:altered expression:heart (rat) RGD PMID:21856922 RGD:7207283 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Nos1 nitric oxide synthase 1, neuronal ISO RGD PMID:17310378 RGD:1642145 NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905 		JBrowse link
Fetal Inflammatory Response Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO associated with Premature Birth; RGD PMID:24832219 RGD:12801490 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
Fetal Macrosomia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf4a hepatic nuclear factor 4, alpha ISO DNA:mutations: : RGD PMID:17407387 PMID:19435144 RGD:12904698, RGD:12904767 NCBI chr 2:163,348,731...163,414,827
Ensembl chr 2:163,348,728...163,414,830 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:17113804 RGD:12743591 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923 		JBrowse link
G Lipc lipase, hepatic ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) RGD PMID:10600655 RGD:2308786 NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508 		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 ISO associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) RGD PMID:23977013 RGD:155882570 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544 		JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22340208 NCBI chr  X:16,485,937...16,554,051
Ensembl chr  X:16,485,937...16,554,057 		JBrowse link
G Nphs1 nephrosis 1, nephrin ISO associated with maternal low protein diet; protein:decreased expression:kidney (rat) RGD PMID:23977013 RGD:155882570 NCBI chr 7:30,157,259...30,188,048
Ensembl chr 7:30,157,740...30,186,648 		JBrowse link
G Nphs2 nephrosis 2, podocin ISO associated with maternal low protein diet; protein:decreased expression:kidney (rat) RGD PMID:23977013 RGD:155882570 NCBI chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605 		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 2:44,873,523...45,007,378
Ensembl chr 2:44,873,644...45,007,407 		JBrowse link
Fetal Resorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoh apolipoprotein H IDA RGD PMID:24642748 RGD:10054118 NCBI chr11:108,286,123...108,305,222
Ensembl chr11:108,234,180...108,305,222 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:3816235 NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188 		JBrowse link
Galactorrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20083845 NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188 		JBrowse link
gestational diabetes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2210016L21Rik RIKEN cDNA 2210016L21 gene ISO ClinVar Annotator: match by term: Gestational diabetes ClinVar PMID:9562352 PMID:25741868 PMID:35299962 NCBI chr 5:115,080,213...115,086,610
Ensembl chr 5:115,080,217...115,087,842 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing treatment ISO protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15126557 PMID:19626510 PMID:23608331 RGD:2313236, RGD:8695950 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778 		JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO protein:increased expression:serum RGD PMID:12153747 RGD:2313814 NCBI chr16:22,710,793...22,718,193
Ensembl chr16:22,710,027...22,718,199 		JBrowse link
G Angptl6 angiopoietin-like 6 ISO protein:increased expression:blood serum,umbilical artery (human) RGD PMID:35876300 RGD:329845845 NCBI chr 9:20,785,104...20,791,116
Ensembl chr 9:20,785,104...20,791,023 		JBrowse link
G Apod apolipoprotein D ISO RGD PMID:6828336 RGD:2311180 NCBI chr16:31,115,010...31,133,626
Ensembl chr16:31,115,010...31,133,626 		JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr  X:97,192,363...97,366,824
Ensembl chr  X:97,192,375...97,366,821 		JBrowse link
G Atp2b1 ATPase, Ca++ transporting, plasma membrane 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr10:98,750,243...98,862,005
Ensembl chr10:98,750,268...98,862,005 		JBrowse link
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574 		JBrowse link
G Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr  X:72,546,356...72,632,267
Ensembl chr  X:72,546,692...72,614,611 		JBrowse link
G Atp2b4 ATPase, Ca++ transporting, plasma membrane 4 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 1:133,630,416...133,728,755
Ensembl chr 1:133,627,195...133,728,779 		JBrowse link
G Bnip3l BCL2/adenovirus E1B interacting protein 3-like ISO RGD PMID:26512955 RGD:11564338 NCBI chr14:67,222,688...67,246,580
Ensembl chr14:67,222,688...67,246,326 		JBrowse link
G Calb1 calbindin 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 4:15,881,264...15,906,709
Ensembl chr 4:15,881,264...15,908,064 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:18702087 RGD:2306986 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34175429 NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581 		JBrowse link
G Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 ISO DNA:snp: :rs7756992,rs7754840(human) RGD PMID:19002430 RGD:2313946 NCBI chr13:29,375,729...30,039,665
Ensembl chr13:29,375,729...30,039,657 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394 		JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO mRNA:increased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 2:170,324,877...170,339,065
Ensembl chr 2:170,324,628...170,339,065 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO mRNA:increased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875 		JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 7:114,149,358...114,162,283
Ensembl chr 7:114,148,917...114,162,207 		JBrowse link
G Dcn decorin ISO RGD PMID:16630654 RGD:2311413 NCBI chr10:97,315,362...97,354,025
Ensembl chr10:97,315,471...97,354,005 		JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr17:30,845,909...31,094,736
Ensembl chr17:30,843,328...31,096,339 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Foxm1 forkhead box M1 IMP RGD PMID:19833884 RGD:2315927 NCBI chr 6:128,339,957...128,352,849
Ensembl chr 6:128,339,930...128,353,109 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 IEP protein:increased activity:liver RGD PMID:12595588 RGD:2315965 NCBI chr11:101,258,542...101,268,729
Ensembl chr11:101,258,387...101,268,729 		JBrowse link
G Gad2 glutamic acid decarboxylase 2 ISO RGD PMID:18588707 RGD:2313295 NCBI chr 2:22,512,262...22,583,889
Ensembl chr 2:22,512,217...22,583,886 		JBrowse link
G Gck glucokinase ISO DNA:SNP:promoter:A allele of -30G>A associated with GDM (p=0.008) (human)
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 chr11:5,850,816...5,900,081
Ensembl chr11:5,850,820...5,900,081 		JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO protein:increased activity:blood RGD PMID:18937705 RGD:2315598 NCBI chr10:75,396,910...75,422,027
Ensembl chr10:75,397,438...75,422,034 		JBrowse link
G Gh growth hormone ISO protein:increased expression: RGD PMID:3519044 RGD:2315681 NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:22342560 RGD:11353780 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Hnf1a HNF1 homeobox A ISO DNA:SNP:CDS:slightly increased frequency of the L allele of the I27L polymorphism (p=0.048) (human)
ClinVar Annotator: match by term: Gestational diabetes		 ClinVar
RGD		 PMID:9562352 PMID:25741868 PMID:35299962 PMID:16752173 RGD:2301873 NCBI chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:decreased expression:placenta
protein:increased expression:decidua, endothelial cell		 RGD PMID:19343356 PMID:17990298 RGD:2313469, RGD:2313476 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO RGD PMID:22241286 RGD:10046048 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Il10 interleukin 10 ISO protein:decreased expression:serum RGD PMID:18446686 RGD:2308947 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:extracellular space (human) RGD PMID:19408175 RGD:2307186 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Inhba inhibin beta-A ISO protein:increased expression:serum
protein:decreased expression:serum		 RGD PMID:7852520 PMID:14663836 RGD:2313385, RGD:2313391 NCBI chr13:16,178,841...16,206,194
Ensembl chr13:16,186,436...16,206,206 		JBrowse link
G Ins2 insulin II ISO protein:increased expression:serum RGD PMID:19269197 RGD:2311131 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118 		JBrowse link
G Insr insulin receptor ISO mRNA, protein:increased expression:placenta (human) RGD PMID:19179458 PMID:22241286 RGD:2307336, RGD:10046048 NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070 		JBrowse link
G Itpr2 inositol 1,4,5-triphosphate receptor 2 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 6:146,009,797...146,403,757
Ensembl chr 6:146,009,797...146,403,721 		JBrowse link
G Itpr3 inositol 1,4,5-triphosphate receptor 3 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr17:27,275,976...27,341,197
Ensembl chr17:27,276,278...27,341,197 		JBrowse link
G Lep leptin ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20421132 PMID:19269197 RGD:2311131 NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876 		JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20421132 NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15472209 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Men1 multiple endocrine neoplasia 1 IMP RGD PMID:17975067 RGD:2317319 NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921 		JBrowse link
G Met met proto-oncogene IAGP MouseDO NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Mir133a-1 microRNA 133a-1 ISO RGD PMID:26512955 RGD:11564338 NCBI chr18:10,782,909...10,782,976
Ensembl chr18:10,782,909...10,782,976 		JBrowse link
G Ogg1 8-oxoguanine DNA-glycosylase 1 ISO mRNA:increased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029 		JBrowse link
G Plat plasminogen activator, tissue ISO RGD PMID:17259140 RGD:2311668 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Rbp4 retinol binding protein 4, plasma ISO protein:increased expression:blood serum (human) RGD PMID:35876300 RGD:329845845 NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729 		JBrowse link
G Retn resistin ISO protein:increased expression:serum RGD PMID:19408175 RGD:2307186 NCBI chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G Ryr2 ryanodine receptor 2, cardiac ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 2:112,461,699...113,047,755
Ensembl chr 2:112,461,700...113,047,441 		JBrowse link
G S100g S100 calcium binding protein G ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr  X:161,744,988...161,747,595
Ensembl chr  X:161,744,988...161,747,595 		JBrowse link
G Sirt3 sirtuin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23956348 NCBI chr 7:140,443,576...140,462,222
Ensembl chr 7:140,443,579...140,462,222 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:23956348 PMID:30738174 PMID:34175429 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Srrm1 serine/arginine repetitive matrix 1 ISO protein:increased glycation:placenta (human) RGD PMID:24308201 RGD:11038724 NCBI chr 4:135,047,795...135,080,787
Ensembl chr 4:135,047,795...135,080,632 		JBrowse link
G Tcf7l2 transcription factor 7 like 2, T cell specific, HMG box susceptibility ISO DNA:SNP (human) RGD PMID:18984664 RGD:2312455 NCBI chr19:55,730,227...55,922,091
Ensembl chr19:55,730,252...55,922,086 		JBrowse link
G Trpv5 transient receptor potential cation channel, subfamily V, member 5 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 6:41,628,595...41,658,158
Ensembl chr 6:41,629,107...41,657,703 		JBrowse link
G Trpv6 transient receptor potential cation channel, subfamily V, member 6 ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr 6:41,597,553...41,613,339
Ensembl chr 6:41,597,558...41,613,339 		JBrowse link
G Uts2 urotensin 2 susceptibility ISO DNA:polymorphism RGD PMID:17327028 RGD:2306802 NCBI chr 4:151,081,554...151,086,267
Ensembl chr 4:151,081,554...151,086,267 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO mRNA:decreased expression:placenta (human) RGD PMID:36477942 RGD:401901174 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
gestational trophoblastic neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncr1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Gestational trophoblastic neoplasia ClinVar PMID:21948117 NCBI chr 7:4,340,714...4,348,183
Ensembl chr 7:4,340,723...4,348,163 		JBrowse link
G Pou5f1 POU domain, class 5, transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18440631 NCBI chr17:35,816,929...35,821,674
Ensembl chr17:35,816,915...35,821,669 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO
IAGP		 ClinVar Annotator: match by term: GRACILE syndrome
CTD Direct Evidence: marker/mechanism
OMIM:603358		 OMIM
ClinVar
CTD
MouseDO		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 1:74,627,448...74,631,602
Ensembl chr 1:74,627,448...74,631,602 		JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO ClinVar Annotator: match by term: neonatal lactic acidosis ClinVar PMID:25741868 PMID:32313153 NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938 		JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia
DNA:mutations:cds:multiple (human)		 OMIM
ClinVar
RGD		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... RGD:9588626 NCBI chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611 		JBrowse link
Habitual Abortions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa5 annexin A5 susceptibility ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 OMIM
ClinVar		 PMID:25741868 NCBI chr 3:36,503,072...36,530,036
Ensembl chr 3:36,503,072...36,530,043 		JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:19086990 RGD:11039490 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Asic5 acid-sensing ion channel family member 5 ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 ClinVar NCBI chr 3:81,889,600...81,928,540
Ensembl chr 3:81,889,597...81,928,540 		JBrowse link
G Cbx3 chromobox 3 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 6:51,447,596...51,460,684
Ensembl chr 6:51,447,340...51,460,684 		JBrowse link
G Ccdc68 coiled-coil domain containing 68 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr18:70,057,929...70,102,559
Ensembl chr18:70,058,497...70,102,555 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 ClinVar NCBI chr  X:6,845,890...6,907,894
Ensembl chr  X:6,845,891...6,907,858 		JBrowse link
G Cdk2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr10:128,533,807...128,540,920
Ensembl chr10:128,533,808...128,540,900 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Cenph centromere protein H ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr13:100,896,187...100,912,415
Ensembl chr13:100,896,182...100,912,407 		JBrowse link
G Creb5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30100398 NCBI chr 6:53,264,154...53,677,349
Ensembl chr 6:53,264,255...53,677,361 		JBrowse link
G F2 coagulation factor II ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 ClinVar
OMIM		 PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:8696333 More... NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G F5 coagulation factor V susceptibility ISO 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 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846 		JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751 		JBrowse link
G Kcnq1 potassium voltage-gated channel, subfamily Q, member 1 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:16414944 PMID:22581653 PMID:25741868 PMID:34398675 NCBI chr 7:142,660,614...142,980,787
Ensembl chr 7:142,660,099...142,980,779 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association ISO 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 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Pif1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:25741868 NCBI chr 9:65,494,432...65,503,249
Ensembl chr 9:65,494,442...65,503,249 		JBrowse link
G Pkhd1 polycystic kidney and hepatic disease 1 ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 ClinVar NCBI chr 1:20,128,003...20,688,306
Ensembl chr 1:20,128,003...20,688,288 		JBrowse link
G Plk1 polo like kinase 1 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 7:121,758,658...121,769,107
Ensembl chr 7:121,758,662...121,769,096 		JBrowse link
G Rexo4 REX4, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:25741868 NCBI chr 2:26,843,575...26,854,398
Ensembl chr 2:26,843,575...26,854,398 		JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19110213 NCBI chr10:88,295,449...88,309,098
Ensembl chr10:88,295,431...88,309,098 		JBrowse link
G Thbd thrombomodulin susceptibility ISO DNA:SNP: :1418C>T (human) RGD PMID:23954867 RGD:11038683 NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108 		JBrowse link
HELLP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO protein:decreased activity:plasma (human) RGD PMID:12969811 RGD:10449045 NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640 		JBrowse link
G Ahsp alpha hemoglobin stabilizing protein ISO mRNA:decreased expression:placenta (human) RGD PMID:18347943 RGD:329956422 NCBI chr 7:127,902,016...127,902,926
Ensembl chr 7:127,901,969...127,902,930 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:blood platelet (human) RGD PMID:23241952 RGD:11522719 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:9158311 RGD:1580990 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:SNP:promoter:-670A>G(rs1800682)(human)
protein,mRNA:altered expression:placenta, liver:		 RGD PMID:30066360 PMID:28501275 RGD:14700669, RGD:14700673 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fasl Fas ligand susceptibility 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 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		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 ISO ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chr 4:119,032,654...119,047,210
Ensembl chr 4:119,032,654...119,047,208 		JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III ISO DNA:polymorphism: : RGD PMID:19129718 RGD:11100009 NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504 		JBrowse link
G Kel Kell blood group ISO ClinVar Annotator: match by term: KELL K/k BLOOD GROUP POLYMORPHISM ClinVar PMID:7849312 PMID:8652402 PMID:25741868 NCBI chr 6:41,663,263...41,681,268
Ensembl chr 6:41,663,264...41,681,273 		JBrowse link
G Slc14a1 solute carrier family 14 (urea transporter), member 1 ISO ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM ClinVar NCBI chr18:78,143,306...78,185,334
Ensembl chr18:78,143,306...78,185,334 		JBrowse link
G Slc29a1 solute carrier family 29 (nucleoside transporters), member 1 ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr17:45,896,126...45,910,544
Ensembl chr17:45,896,126...45,910,532 		JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328 NCBI chr 3:103,707,921...103,716,703
Ensembl chr 3:103,707,921...103,716,760 		JBrowse link
G Dkc1 dyskeratosis congenita 1, dyskerin ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:7607282 PMID:10583221 PMID:12437656 PMID:16332973 PMID:19734544 More... NCBI chr  X:74,139,460...74,153,382
Ensembl chr  X:74,139,460...74,153,383 		JBrowse link
G Pot1a protection of telomeres 1A ISO 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 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) RGD PMID:23959892 RGD:152977765 NCBI chr 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409 		JBrowse link
G Tert telomerase reverse transcriptase ISO 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 chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Tinf2 Terf1 (TRF1)-interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:55,912,120...55,919,265
Ensembl chr14:55,912,146...55,919,277 		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 subunit ISO protein:increased expression:serum RGD PMID:2473429 RGD:2293636 NCBI chr 4:34,893,779...34,907,374
Ensembl chr 4:34,893,779...34,907,370 		JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr11:102,729,298...102,771,999
Ensembl chr11:102,729,299...102,771,811 		JBrowse link
G Khdc3 KH domain containing 3, subcortical maternal complex member ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydatidiform mole		 CTD
ClinVar		 PMID:25741868 NCBI chr 9:73,008,660...73,013,915
Ensembl chr 9:73,009,118...73,011,720 		JBrowse link
G Mlh1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 9:111,057,296...111,100,854
Ensembl chr 9:111,057,296...111,100,859 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Msh2 mutS homolog 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141 		JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr 7:4,340,714...4,348,183
Ensembl chr 7:4,340,723...4,348,163 		JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
Hydatidiform Mole, Invasive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh2 mutS homolog 2 ISO protein:decreased expression:mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141 		JBrowse link
Hydatidiform Mole, Recurrent, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncr1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 ClinVar PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 More... NCBI chr 7:4,340,714...4,348,183
Ensembl chr 7:4,340,723...4,348,163 		JBrowse link
Hydatidiform Mole, Recurrent, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Khdc3 KH domain containing 3, subcortical maternal complex member ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2 OMIM
ClinVar		 PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 More... NCBI chr 9:73,008,660...73,013,915
Ensembl chr 9:73,009,118...73,011,720 		JBrowse link
Hydatidiform Mole, Recurrent, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mei1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 OMIM
ClinVar		 PMID:25741868 PMID:30388401 NCBI chr15:81,954,275...82,011,018
Ensembl chr15:81,954,197...82,011,015 		JBrowse link
Hydatidiform Mole, Recurrent, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top6bl TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 OMIM
ClinVar		 PMID:25741868 PMID:30388401 NCBI chr19:4,675,758...4,748,753
Ensembl chr19:4,675,762...4,748,696 		JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930558K02Rik RIKEN cDNA 4930558K02 gene ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 1:161,769,658...161,809,940
Ensembl chr 1:161,769,655...161,807,205 		JBrowse link
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 8:124,618,497...124,621,514
Ensembl chr 8:124,618,508...124,621,490 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr16:4,759,290...4,783,362
Ensembl chr16:4,759,300...4,782,069 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:66,189,926...66,424,909
Ensembl chr18:66,178,373...66,435,812 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:73,393,625...73,410,682
Ensembl chr 2:73,393,559...73,410,682 		JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:164,674,792...164,682,952
Ensembl chr 2:164,674,793...164,682,952 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 4:106,418,279...106,446,310
Ensembl chr 4:106,418,235...106,446,310 		JBrowse link
G Dnah14 dynein, axonemal, heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:181,404,158...181,642,306
Ensembl chr 1:181,404,124...181,643,339 		JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 NCBI chr11:65,722,150...66,059,379
Ensembl chr11:65,722,108...66,059,377 		JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr19:5,757,397...5,776,504
Ensembl chr19:5,757,404...5,776,345 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134 		JBrowse link
G Fen1 flap structure specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr19:10,176,496...10,181,757
Ensembl chr19:10,176,496...10,181,533 		JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 More... NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr15:38,869,673...38,901,587
Ensembl chr15:38,869,429...38,901,583 		JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr17:73,800,202...74,019,138
Ensembl chr17:73,800,223...74,017,448 		JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 More... NCBI chr 5:130,011,278...130,031,890
Ensembl chr 5:130,017,852...130,031,890 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO 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 chr11:32,246,492...32,247,310
Ensembl chr11:32,246,489...32,247,298 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G Kif19a kinesin family member 19A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr11:114,656,227...114,681,565
Ensembl chr11:114,656,214...114,681,565 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		JBrowse link
G Mocs3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:168,072,542...168,074,223
Ensembl chr 2:168,072,542...168,074,514 		JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 3:108,272,227...108,287,373
Ensembl chr 3:108,272,227...108,287,373 		JBrowse link
G Myo18a myosin XVIIIA ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr11:77,654,066...77,756,806
Ensembl chr11:77,654,072...77,756,806 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: MYOM1-related non-immune fetal hydrops | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 PMID:28492532 PMID:31130284 NCBI chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851 		JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr19:10,185,635...10,218,134
Ensembl chr19:10,185,636...10,218,112 		JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:25741868 PMID:26036949 PMID:26841830 More... NCBI chr 2:52,026,652...52,228,810
Ensembl chr 2:52,026,659...52,268,486 		JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr17:35,150,229...35,156,273
Ensembl chr17:35,150,229...35,154,929 		JBrowse link
G Nsd1 nuclear receptor-binding SET-domain protein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:28619848 PMID:30187933 PMID:30244526 More... NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068 		JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 1:161,796,757...161,801,029
Ensembl chr 1:161,796,755...161,801,004 		JBrowse link
G Prpf19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr19:10,872,595...10,886,923
Ensembl chr19:10,872,595...10,886,923 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr 2:90,864,594...90,876,074
Ensembl chr 2:90,865,965...90,876,074 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 More... NCBI chr 3:88,624,154...88,638,354
Ensembl chr 3:88,624,145...88,638,356 		JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr12:16,944,808...17,038,275
Ensembl chr12:16,944,896...17,037,824 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 More... NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:112,461,699...113,047,755
Ensembl chr 2:112,461,700...113,047,441 		JBrowse link
G Serpina11 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr12:103,946,502...103,956,227
Ensembl chr12:103,946,502...103,956,216 		JBrowse link
G Sftpa1 surfactant associated protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409 		JBrowse link
G Shoc2 Shoc2, leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 More... NCBI chr19:53,932,018...54,021,711
Ensembl chr19:53,932,737...54,021,564 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr11:79,883,932...79,924,949
Ensembl chr11:79,883,932...79,924,949 		JBrowse link
G Svopl SV2 related protein homolog (rat)-like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 6:37,960,674...38,023,944
Ensembl chr 6:37,960,674...38,023,931 		JBrowse link
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 PMID:28749478 NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350 		JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:4,867,921...4,904,153
Ensembl chr16:4,867,921...4,904,153 		JBrowse link
G Vps13d vacuolar protein sorting 13D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 4:144,597,619...144,921,598
Ensembl chr 4:144,699,192...144,921,575 		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, mitochondrial ISO ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia OMIM
ClinVar		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 9:123,196,001...123,291,731
Ensembl chr 9:123,195,992...123,291,731 		JBrowse link
Hyperemesis Gravidarum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf15 growth differentiation factor 15 susceptibility ISO ClinVar Annotator: match by term: Hyperemesis gravidarum, susceptibility to OMIM
ClinVar		 PMID:35218128 PMID:38092039 NCBI chr 8:71,082,043...71,085,106
Ensembl chr 8:71,082,043...71,085,106 		JBrowse link
IMAGe syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1c cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 More... NCBI chr 7:143,012,076...143,014,735
Ensembl chr 7:143,012,076...143,014,787 		JBrowse link
IMAGEI Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole polymerase (DNA directed), epsilon ISO ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency ClinVar
OMIM		 PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 More... NCBI chr 5:110,434,185...110,485,319
Ensembl chr 5:110,434,172...110,485,340 		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, sub-family B member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:8,943,614...9,009,226
Ensembl chr 5:8,943,717...9,009,231 		JBrowse link
G Atp8b1 ATPase, class I, type 8B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:64,662,050...64,794,342
Ensembl chr18:64,662,038...64,794,338 		JBrowse link
G Hdac3 histone deacetylase 3 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr18:38,070,024...38,088,073
Ensembl chr18:38,068,897...38,088,069 		JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:28697498 RGD:14696655 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23627780 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28851649 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337 		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, class I, type 8B, member 1 ISO ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1 OMIM
ClinVar		 PMID:15239083 PMID:15657619 PMID:15888793 PMID:19731236 PMID:20038848 More... NCBI chr18:64,662,050...64,794,342
Ensembl chr18:64,662,038...64,794,338 		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, sub-family B member 11 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 ClinVar PMID:9806540 PMID:10579978 PMID:12370274 PMID:12717091 PMID:15300568 More... NCBI chr 2:69,068,626...69,172,960
Ensembl chr 2:69,068,626...69,172,958 		JBrowse link
G Abcb4 ATP-binding cassette, sub-family B member 4 ISO ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 OMIM
ClinVar		 PMID:8666348 PMID:9419367 PMID:9923886 PMID:10767346 PMID:11313316 More... NCBI chr 5:8,943,614...9,009,226
Ensembl chr 5:8,943,717...9,009,231 		JBrowse link
kernicterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20194756 PMID:28167773 NCBI chr 1:88,139,681...88,147,724
Ensembl chr 1:88,139,681...88,146,719 		JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 perlecan (heparan sulfate proteoglycan 2) ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 4:137,196,062...137,297,941
Ensembl chr 4:137,196,080...137,297,941 		JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:137,298,185...137,309,429
Ensembl chr 4:137,298,187...137,309,415 		JBrowse link
Lymphatic Malformation 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdfic MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 6:15,720,660...15,802,168
Ensembl chr 6:15,720,660...15,802,168 		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 I, domain 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar		 PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350 		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 ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar		 PMID:25741868 NCBI chr 2:84,160,970...84,255,786
Ensembl chr 2:84,160,970...84,255,755 		JBrowse link
mastitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement component 3 IEP RGD PMID:8746955 RGD:7401278 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO associated with HIV Infections RGD PMID:16250882 RGD:5683897 NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16041010 NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:mammary gland: RGD PMID:21691936 RGD:7777124 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tlr9 toll-like receptor 9 resistance ISO mRNA:increased expression:mammary gland (rat) RGD PMID:17321466 RGD:5130197 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082 		JBrowse link
Maternal Phenylketonuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pah phenylalanine hydroxylase ISO RGD PMID:14654659 RGD:1601526 NCBI chr10:87,357,657...87,419,999
Ensembl chr10:87,357,657...87,419,998 		JBrowse link
G Psph phosphoserine phosphatase ISO RGD PMID:7201630 RGD:2308873 NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513 		JBrowse link
meconium aspiration syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO mRNA:increased expression:lung RGD PMID:14605247 RGD:11039054 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 treatment ISO RGD PMID:14605247 RGD:11039054 NCBI chr  X:21,350,863...21,355,072
Ensembl chr  X:21,350,783...21,355,403 		JBrowse link
G Atf2 activating transcription factor 2 IAGP MouseDO NCBI chr 2:73,646,853...73,723,094
Ensembl chr 2:73,646,853...73,722,983 		JBrowse link
G Scgb1a1 secretoglobin, family 1A, member 1 ISO protein:increased expression:broncho-alveolar lavage fluid, meconium RGD PMID:21567110 RGD:5144123 NCBI chr19:9,061,006...9,065,320
Ensembl chr19:9,061,000...9,065,322 		JBrowse link
Megaduodenum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin, gamma 2, smooth muscle, enteric ISO ClinVar Annotator: match by term: Megacystis ClinVar PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25741868 More... NCBI chr 6:83,489,891...83,513,233
Ensembl chr 6:83,489,887...83,513,247 		JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Fetal megacystis ClinVar PMID:25741868 NCBI chr 8:121,811,100...121,814,883
Ensembl chr 8:121,811,125...121,814,883 		JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin (kendrin) ISO ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr10:76,187,098...76,279,988
Ensembl chr10:76,187,097...76,278,620 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 CLIP associating protein 1 ISO ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 | ClinVar Annotator: match by term: Taybi Linder syndrome ClinVar PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 More... NCBI chr 1:118,314,976...118,537,192
Ensembl chr 1:118,316,788...118,540,408 		JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I ClinVar PMID:25741868 PMID:28492532 NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Brachymelic primordial dwarfism ClinVar PMID:22958901 PMID:24111713 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin (kendrin) ISO
IAGP		 ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities | ClinVar Annotator: match by term: PCNT-related condition
CTD Direct Evidence: marker/mechanism
OMIM:210720
DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human)
DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 More... RGD:11537403, RGD:11537402, RGD:11537401, RGD:11537400 NCBI chr10:76,187,098...76,279,988
Ensembl chr10:76,187,097...76,278,620 		JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism, Type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 CLIP associating protein 1 ISO ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE | ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III ClinVar PMID:10189087 PMID:21474760 PMID:21474761 PMID:21977988 PMID:24865609 More... NCBI chr 1:118,314,976...118,537,192
Ensembl chr 1:118,316,788...118,540,408 		JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr16:13,981,139...14,010,792
Ensembl chr16:13,981,139...14,010,792 		JBrowse link
mild pre-eclampsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx3 glutathione peroxidase 3 ISO protein:increased expression:plasma RGD PMID:8476834 RGD:401827852 NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203 		JBrowse link
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 1:87,052,676...87,056,450
Ensembl chr 1:87,052,695...87,055,634 		JBrowse link
G Alpi alkaline phosphatase, intestinal ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 1:87,025,724...87,029,328
Ensembl chr 1:87,025,724...87,029,328 		JBrowse link
G Alppl2 alkaline phosphatase, placental-like 2 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 1:87,014,412...87,023,656
Ensembl chr 1:87,014,416...87,017,650 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 More... NCBI chr 2:73,393,625...73,410,682
Ensembl chr 2:73,393,559...73,410,682 		JBrowse link
G Chrnd cholinergic receptor, nicotinic, delta polypeptide ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 More... NCBI chr 1:87,118,319...87,127,792
Ensembl chr 1:87,118,329...87,127,792 		JBrowse link
G Chrng cholinergic receptor, nicotinic, gamma polypeptide ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr 1:87,133,533...87,139,365
Ensembl chr 1:87,132,379...87,140,416 		JBrowse link
G Dis3l2 DIS3 like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 1:86,629,646...86,977,819
Ensembl chr 1:86,631,530...86,977,817 		JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 1:87,070,596...87,084,867
Ensembl chr 1:87,075,377...87,084,243