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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:Spontaneous Abortions
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Accession:DOID:9003281 term browser browse the term
Definition:Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference.
Synonyms:exact_synonym: miscarriage;   miscarriages;   spontaneous abortion;   tubal abortion;   tubal abortions
 primary_id: MESH:D000022
 xref: EFO:1001255;   EFO:1001491


show annotations for term's descendants           Sort by:
Spontaneous Abortions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE2 angiotensin converting enzyme 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr  X:11,798,839...11,839,591
Ensembl chr  X:11,798,839...11,900,594 		JBrowse link
G ACKR4 atypical chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr23:29,586,250...29,591,627
Ensembl chr23:29,589,767...29,590,819 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238 		JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26593447 NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444 		JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:22266326 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 Ensembl chr17:59,941,353...60,010,867
Ensembl chr17:59,941,353...60,010,867 		JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO associated with Pregnancy in Diabetics;protein:decreased expression:serum RGD PMID:17924206 RGD:2307065 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852 		JBrowse link
G CD163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106 		JBrowse link
G CD164 CD164 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:66,295,444...66,309,691
Ensembl chr12:66,297,248...66,310,186 		JBrowse link
G CD226 CD226 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:8,348,628...8,437,520
Ensembl chr 1:8,351,207...8,435,145 		JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:32,500,899...32,503,355
Ensembl chr 5:32,501,380...32,503,183 		JBrowse link
G CD69 CD69 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr27:36,197,202...36,205,045
Ensembl chr27:36,197,175...36,204,597 		JBrowse link
G CD7 CD7 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:45,826...48,864
Ensembl chr 9:45,634...48,749 		JBrowse link
G CD82 CD82 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20075392 NCBI chr18:44,658,414...44,707,897
Ensembl chr18:44,659,180...44,706,768 		JBrowse link
G CD84 CD84 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr38:21,702,788...21,727,373
Ensembl chr38:21,702,494...21,759,668 		JBrowse link
G CD8A CD8 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:38,396,022...38,400,508
Ensembl chr17:38,369,414...38,400,508 		JBrowse link
G CEACAM1 CEA cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:111,902,429...111,919,191
Ensembl chr 1:111,745,413...111,917,830 		JBrowse link
G CEACAM28 carcinoembryonic antigen-related cell adhesion molecule 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:111,812,571...111,834,985
Ensembl chr 1:111,745,413...111,917,830 		JBrowse link
G CHIA chitinase acidic ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:40,754,906...40,766,779
Ensembl chr 6:40,754,993...40,766,891 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 4:20,838,163...20,987,412
Ensembl chr 4:20,837,650...20,986,962 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527 		JBrowse link
G COL4A6 collagen type IV alpha 6 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr  X:81,690,047...81,981,005
Ensembl chr  X:81,691,417...81,980,703 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr36:30,538,863...30,677,450
Ensembl chr36:30,540,229...30,691,564 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr31:39,301,718...39,319,895
Ensembl chr31:39,301,748...39,448,062 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:2,615,428...2,661,552
Ensembl chr15:2,646,982...2,661,552 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108 		JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr36:10,664,555...10,863,366
Ensembl chr36:10,664,365...10,850,520 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19022366 PMID:26593447 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216 		JBrowse link
G DHFR dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:26,521,214...26,556,065 JBrowse link
G ECM1 extracellular matrix protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:59,696,125...59,701,990
Ensembl chr17:59,696,477...59,701,744 		JBrowse link
G ECM2 extracellular matrix protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:98,832,107...98,865,084
Ensembl chr 1:98,832,677...98,864,700 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr 9:18,585,918...18,631,743
Ensembl chr 9:18,585,971...18,635,570 		JBrowse link
G EMP1 epithelial membrane protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr27:33,177,874...33,199,048
Ensembl chr27:33,179,576...33,206,634 		JBrowse link
G F11 coagulation factor XI ISO protein:increased activity:blood: RGD PMID:25517908 RGD:11041767 NCBI chr16:44,469,609...44,492,833
Ensembl chr16:44,469,632...44,540,292 		JBrowse link
G F12 coagulation factor XII ISO protein:decreased activity: : RGD PMID:24597288 RGD:11041799 NCBI chr 4:35,950,642...35,968,137
Ensembl chr 4:35,950,695...35,998,025 		JBrowse link
G F13A1 coagulation factor XIII A chain ISO RGD PMID:12933578 RGD:10450744 NCBI chr35:6,186,750...6,347,522
Ensembl chr35:6,187,235...6,349,773 		JBrowse link
G F2 coagulation factor II, thrombin ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 ClinVar PMID:2222810 PMID:2429850 PMID:6305407 PMID:8696333 PMID:8896550 More... NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:12579195 RGD:1300308 NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607 		JBrowse link
G FETUB fetuin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr34:19,259,362...19,273,030
Ensembl chr34:19,259,357...19,273,030 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521 		JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr24:8,354,151...8,367,601
Ensembl chr24:8,364,115...8,366,064 		JBrowse link
G FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123 		JBrowse link
G FST follistatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 4:61,779,252...61,785,666
Ensembl chr 4:61,779,259...61,783,260 		JBrowse link
G GLS glutaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr37:1,433,640...1,508,347
Ensembl chr37:1,433,398...1,508,146 		JBrowse link
G HABP2 hyaluronan binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr28:24,489,665...24,522,336
Ensembl chr28:24,489,773...24,522,263 		JBrowse link
G HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:20,402,124...20,407,143
Ensembl chr 9:20,405,019...20,406,792 		JBrowse link
G IFI35 interferon induced protein 35 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:20,050,438...20,061,346
Ensembl chr 9:20,050,438...20,061,319 		JBrowse link
G IFI44 interferon induced protein 44 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:68,361,724...68,377,991
Ensembl chr 6:68,364,494...68,377,876 		JBrowse link
G IFI6 interferon alpha inducible protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:72,638,657...72,642,648
Ensembl chr 2:72,638,705...72,642,648 		JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr16:1,037,169...1,040,996
Ensembl chr16:1,037,162...1,167,094 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392 		JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr27:2,063,548...2,067,366
Ensembl chr27:1,989,772...2,067,298 		JBrowse link
G IL11 interleukin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:102,311,960...102,319,102
Ensembl chr 1:102,316,105...102,318,653 		JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228 		JBrowse link
G IL16 interleukin 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:56,473,485...56,575,504
Ensembl chr 3:56,473,486...56,575,104 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G IL20RA interleukin 20 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:29,506,582...29,545,882
Ensembl chr 1:29,506,689...29,546,006 		JBrowse link
G IL24 interleukin 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 7:6,043,249...6,047,097
Ensembl chr 7:6,041,625...6,047,097 		JBrowse link
G IL5RA interleukin 5 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr20:14,309,805...14,349,433
Ensembl chr20:14,314,227...14,343,793 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G IL9 interleukin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr11:23,808,919...23,814,085
Ensembl chr11:23,811,117...23,814,079 		JBrowse link
G INHA inhibin subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391 		JBrowse link
G ITGA2 integrin subunit alpha 2 ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse) RGD PMID:19321657 RGD:2307421 NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:4,825,148...4,855,266
Ensembl chr 9:4,825,292...4,855,820 		JBrowse link
G ITGB6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr36:5,833,206...5,962,699
Ensembl chr36:5,834,638...5,962,633 		JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17989398 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997 		JBrowse link
G KLK10 kallikrein related peptidase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:105,860,406...105,864,238
Ensembl chr 1:105,860,946...105,864,238 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:68,535,614...68,639,115
Ensembl chr12:68,535,860...68,678,762 		JBrowse link
G LGALS3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 8:30,977,438...30,994,711
Ensembl chr 8:30,983,633...30,994,705 		JBrowse link
G LIF LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr26:23,400,226...23,418,538
Ensembl chr26:23,403,364...23,406,851 		JBrowse link
G LOC483954 serpin B4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:13,471,412...13,472,089 JBrowse link
G LOC491263 beta-lactoglobulin-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:49,663,646...49,667,034 JBrowse link
G MAP2 microtubule associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr37:17,316,899...17,611,360
Ensembl chr37:17,466,678...17,607,803 		JBrowse link
G MAPRE3 microtubule associated protein RP/EB family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:20,971,868...21,027,634
Ensembl chr17:21,015,464...21,026,845 		JBrowse link
G MBL1 mannose binding lectin 1 ISO DNA:polymorphisms:multiple: RGD PMID:18927129 RGD:12910825 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 8:26,244,894...26,247,960
Ensembl chr 8:26,245,407...26,246,747 		JBrowse link
G MGP matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr27:31,735,301...31,738,673
Ensembl chr27:31,734,660...31,738,673 		JBrowse link
G MMP11 matrix metallopeptidase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr26:28,730,173...28,741,506
Ensembl chr26:28,727,332...28,741,415 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309 		JBrowse link
G MMP15 matrix metallopeptidase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:58,501,783...58,512,507
Ensembl chr 2:58,504,848...58,512,371 		JBrowse link
G MMP19 matrix metallopeptidase 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr10:219,193...224,873
Ensembl chr10:219,618...224,778 		JBrowse link
G MMP26 matrix metallopeptidase 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr21:27,416,768...27,429,374
Ensembl chr21:27,423,965...27,428,624 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153 		JBrowse link
G MUC4 mucin 4, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr33:29,061,372...29,084,938
Ensembl chr33:29,063,096...29,111,802 		JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995 		JBrowse link
G PCDHA3 protocadherin alpha 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642
G PGF placental growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170 		JBrowse link
G PRLR prolactin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 4:73,147,919...73,280,970
Ensembl chr 4:73,110,858...73,273,916 		JBrowse link
G PTGIS prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr24:36,129,091...36,162,525
Ensembl chr24:36,132,173...36,162,509 		JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr27:19,781,557...19,795,078
Ensembl chr27:19,781,557...19,795,078 		JBrowse link
G RBP4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750 		JBrowse link
G SDF2L1 stromal cell derived factor 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr26:30,918,788...30,920,873
Ensembl chr26:30,918,811...30,920,868 		JBrowse link
G SPAG5 sperm associated antigen 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:42,783,224...42,804,568
Ensembl chr 9:42,783,235...42,804,456 		JBrowse link
G SST somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr34:20,063,091...20,064,520
Ensembl chr34:20,063,090...20,064,557 		JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242 		JBrowse link
G TGFBI transforming growth factor beta induced ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr11:23,932,038...23,971,983
Ensembl chr11:23,938,453...23,971,607 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr11:56,191,383...56,223,042
Ensembl chr11:56,161,772...56,218,594 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288 		JBrowse link
G TNFSF10 TNF superfamily member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr34:36,719,249...36,734,989
Ensembl chr34:36,670,849...36,735,060 		JBrowse link
G TNFSF13 TNF superfamily member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:32,482,723...32,484,790
Ensembl chr 5:32,482,723...32,484,789 		JBrowse link
G TNR tenascin R ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 7:23,721,227...24,125,183
Ensembl chr 7:24,019,095...24,122,530 		JBrowse link
G TRAF1 TNF receptor associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr11:73,920,729...73,939,644
Ensembl chr11:73,927,007...73,937,655 		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 chr10:300,863...306,546
Ensembl chr10:300,903...305,438 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:18384776 RGD:2306554 NCBI chr28:2,895,916...2,903,543 JBrowse link
G FOXO3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198 		JBrowse link
G GPX4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12566075
G GRK2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17008600 NCBI chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428 		JBrowse link
G IGF2 insulin like growth factor 2 ISO DNA:methylation: : RGD PMID:18778817 RGD:5509951 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G IL18 interleukin 18 ISO RGD PMID:21920610 RGD:8655947 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348 		JBrowse link
G LCMT1 leucine carboxyl methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17724024 NCBI chr 6:21,026,125...21,066,884
Ensembl chr 6:21,026,186...21,066,876 		JBrowse link
G LIF LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:23409146 NCBI chr26:23,400,226...23,418,538
Ensembl chr26:23,403,364...23,406,851 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO RGD PMID:22972987 RGD:155663421 NCBI chr12:49,669,849...49,740,039
Ensembl chr12:49,672,389...49,739,850 		JBrowse link
G MIR105B microRNA mir-105b ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr  X:120,405,349...120,405,428
Ensembl chr  X:120,405,349...120,405,428 		JBrowse link
G NLRP5 NLR family pyrin domain containing 5 ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality ClinVar NCBI chr 1:101,813,449...101,842,643
Ensembl chr 1:101,813,449...101,842,633 		JBrowse link
G PARG poly(ADP-ribose) glycohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15591342 NCBI chr28:1,651,698...1,767,210
Ensembl chr28:1,652,670...1,766,895 		JBrowse link
G SALL1 spalt like transcription factor 1 ISO RGD PMID:11688560 RGD:155641230 NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO RGD PMID:16790473 RGD:155631313 NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287 		JBrowse link
G SLC31A1 solute carrier family 31 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11391004 NCBI chr11:67,590,087...67,628,947
Ensembl chr11:67,591,080...67,625,798 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO RGD PMID:22972987 RGD:155663421 NCBI chr 1:40,125,842...40,216,455
Ensembl chr 1:40,149,569...40,215,385 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:22972987 RGD:155663421 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		JBrowse link
G UBE2N ubiquitin conjugating enzyme E2 N ISO CTD Direct Evidence: marker/mechanism CTD PMID:16738225 NCBI chr10:41,470,073...41,470,738
Ensembl chr10:41,470,073...41,470,738 		JBrowse link
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 chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378 		JBrowse link
G APOE apolipoprotein E ISO RGD PMID:19086990 RGD:11039490 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
G ASIC5 acid sensing ion channel subunit family member 5 ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 ClinVar NCBI chr15:53,343,244...53,376,328
Ensembl chr15:53,343,907...53,377,347 		JBrowse link
G CBX3 chromobox 3 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr14:39,510,694...39,520,796
Ensembl chr14:39,510,112...39,519,809 		JBrowse link
G CCDC68 coiled-coil domain containing 68 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 1:20,644,302...20,688,615
Ensembl chr 1:20,656,190...20,687,998 		JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 ClinVar NCBI chr  X:42,951,030...43,041,616
Ensembl chr  X:42,949,558...43,012,122 		JBrowse link
G CDK2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr10:300,863...306,546
Ensembl chr10:300,903...305,438 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		JBrowse link
G CENPH centromere protein H ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 2:54,267,782...54,299,083
Ensembl chr 2:54,267,826...54,298,869 		JBrowse link
G CREB5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30100398 NCBI chr14:41,397,016...41,891,273
Ensembl chr14:41,488,548...41,885,094 		JBrowse link
G F2 coagulation factor II, thrombin susceptibility ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 OMIM
ClinVar		 PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:8696333 More... NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		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 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296 		JBrowse link
G FOXO3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:16414944 PMID:22581653 PMID:25741868 PMID:34398675 NCBI chr18:46,554,390...46,830,533
Ensembl chr18:46,518,908...46,830,043 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNP: :1298A>C (human)
DNA:SNPs: :677C>T, 1298A>C (human)		 RGD PMID:19906129 PMID:22047507 PMID:22882325 RGD:10449404 RGD:10449411 RGD:10449415 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G PIF1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:25741868 NCBI chr30:29,223,507...29,232,584
Ensembl chr30:29,157,119...29,232,043 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 ClinVar NCBI chr12:19,280,866...19,744,669
Ensembl chr12:19,286,822...19,744,141 		JBrowse link
G PLK1 polo like kinase 1 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 6:22,165,338...22,176,847
Ensembl chr 6:22,165,338...22,176,441 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:25741868 NCBI chr 9:49,827,584...49,834,872
Ensembl chr 9:49,828,067...49,836,632 		JBrowse link
G SYCP3 synaptonemal complex protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19110213 NCBI chr15:40,630,976...40,641,398
Ensembl chr15:40,631,279...40,704,365 		JBrowse link
G THBD thrombomodulin susceptibility ISO DNA:SNP: :1418C>T (human) RGD PMID:23954867 RGD:11038683 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLE6 TLE family member 6, subcortical maternal complex member ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 | ClinVar Annotator: match by term: TLE6-related condition OMIM
ClinVar		 PMID:25741868 PMID:26537248 PMID:28492532 PMID:36271123 NCBI chr20:56,159,045...56,169,740 JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PADI6 peptidyl arginine deiminase 6 ISO ClinVar Annotator: match by term: PADI6-related condition | ClinVar Annotator: match by term: Preimplantation embryonic lethality 2 OMIM
ClinVar		 PMID:17587491 PMID:18599511 PMID:25741868 PMID:27545678 PMID:34987164 More... NCBI chr 2:80,888,961...80,907,780
Ensembl chr 2:80,888,961...80,907,780 		JBrowse link
Threatened Abortion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIBF1 progesterone immunomodulatory binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15760377 NCBI chr22:26,935,390...27,133,308
Ensembl chr22:26,936,567...27,133,308 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15753
    disease of anatomical entity 15374
      Urogenital Diseases 4909
        Female Urogenital Diseases and Pregnancy Complications 2589
          Pregnancy Complications 782
            Spontaneous Abortions 148
              Embryo Loss + 22
              Habitual Abortions + 21
              Incomplete Abortion 0
              Missed Abortions 0
              Septic Abortions 0
              Threatened Abortion 1
              Veterinary Abortion + 0
paths to the root