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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



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Spontaneous Abortions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE2 angiotensin converting enzyme 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,093,242...12,151,286
JBrowse link
G ACKR4 atypical chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:73,773,862...73,777,770
Ensembl chr13:73,772,392...73,777,805
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26593447 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:22266326 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 4:98,333,431...98,390,012
Ensembl chr 4:98,333,459...98,389,457
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO associated with Pregnancy in Diabetics;protein:decreased expression:serum RGD PMID:17924206 RGD:2307065 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CD163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
JBrowse link
G CD164 CD164 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:75,441,568...75,458,140
Ensembl chr 1:75,441,575...75,458,145
JBrowse link
G CD226 CD226 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:152,872,878...152,977,162
Ensembl chr 1:152,882,762...152,979,845
JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695
JBrowse link
G CD69 CD69 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:62,078,134...62,084,961
Ensembl chr 5:62,077,988...62,085,900
JBrowse link
G CD7 CD7 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:740,345...744,876 JBrowse link
G CD82 CD82 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20075392 NCBI chr 2:17,751,153...17,803,172
Ensembl chr 2:17,750,660...17,803,126
JBrowse link
G CD84 CD84 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 4:89,932,020...89,980,476
Ensembl chr 4:89,932,229...89,969,665
JBrowse link
G CD8A CD8 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760
JBrowse link
G CEACAM1 CEA cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:49,437,308...49,460,614 JBrowse link
G CHIA chitinase acidic ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 4:109,035,323...109,046,499
Ensembl chr 4:109,035,326...109,046,499
JBrowse link
G COL13A1 collagen type XIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:72,786,780...72,953,093
Ensembl chr14:72,787,303...72,953,095
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397
JBrowse link
G COL4A6 collagen type IV alpha 6 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr  X:88,634,925...88,750,938
Ensembl chr  X:88,634,930...88,957,416
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111
JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191
JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709
JBrowse link
G COL9A2 collagen type IX alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:96,065,282...96,081,547 JBrowse link
G CRISP3 cysteine-rich secretory protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 7:43,777,035...43,804,624
Ensembl chr 7:43,777,061...43,804,549
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:72,040,854...72,242,269
Ensembl chr15:72,141,621...72,233,832
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19022366 PMID:26593447 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363
JBrowse link
G DHFR dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:89,230,660...89,255,830 JBrowse link
G ECM1 extracellular matrix protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 4:98,615,776...98,633,081
Ensembl chr 4:98,615,778...98,621,836
JBrowse link
G ECM2 extracellular matrix protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:42,205,246...42,243,746
Ensembl chr 3:42,203,171...42,243,547
JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr12:18,474,367...18,514,993
Ensembl chr12:18,474,097...18,517,479
JBrowse link
G EMP1 epithelial membrane protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:59,245,317...59,267,466
Ensembl chr 5:59,244,691...59,268,025
JBrowse link
G F11 coagulation factor XI ISO protein:increased activity:blood: RGD PMID:25517908 RGD:11041767 NCBI chr17:9,045,990...9,073,552
Ensembl chr17:9,046,002...9,073,520
JBrowse link
G F12 coagulation factor XII ISO protein:decreased activity: : RGD PMID:24597288 RGD:11041799 NCBI chr 2:80,527,451...80,544,835
Ensembl chr 2:80,527,446...80,544,828
JBrowse link
G F13A1 coagulation factor XIII A chain ISO RGD PMID:12933578 RGD:10450744 NCBI chr 7:3,751,290...3,900,797
Ensembl chr 7:3,751,292...3,900,762
JBrowse link
G F2 coagulation factor II, thrombin ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 ClinVar PMID:2222810 PMID:2429850 PMID:6305407 PMID:8696333 PMID:8896550 More... NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:12579195 RGD:1300308 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666
JBrowse link
G FETUB fetuin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:124,480,456...124,494,197
Ensembl chr13:124,460,272...124,494,196
JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,882...122,277,750
JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:22,940,491...22,955,277
Ensembl chr17:22,940,492...22,954,424
JBrowse link
G FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,043
JBrowse link
G FST follistatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr16:32,806,341...32,811,382
Ensembl chr16:32,805,932...32,811,421
JBrowse link
G GLS glutaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:95,513,414...95,606,029
Ensembl chr15:95,513,446...95,598,311
JBrowse link
G HABP2 hyaluronan binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:123,893,990...123,929,445
Ensembl chr14:123,893,996...123,932,961
JBrowse link
G HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:20,269,468...20,271,349
Ensembl chr12:20,269,056...20,271,548
JBrowse link
G IFI35 interferon induced protein 35 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:19,879,386...19,890,330
Ensembl chr12:19,879,387...19,890,314
JBrowse link
G IFI44 interferon induced protein 44 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:134,634,679...134,649,857
Ensembl chr 6:134,633,615...134,650,203
JBrowse link
G IFI6 interferon alpha inducible protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:84,852,782...84,858,072
Ensembl chr 6:84,852,793...84,857,982
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr18:50,018,487...50,022,799
Ensembl chr18:50,018,487...50,022,799
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:18,352,884...18,357,225
Ensembl chr 5:18,352,400...18,357,225
JBrowse link
G IL11 interleukin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:59,540,482...59,544,909
Ensembl chr 6:59,541,213...59,544,896
JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929
JBrowse link
G IL16 interleukin 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 7:49,973,937...50,102,346
Ensembl chr 7:49,973,938...50,102,346
JBrowse link
G IL20RA interleukin 20 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:27,137,545...27,172,341
Ensembl chr 1:27,137,558...27,172,720
JBrowse link
G IL24 interleukin 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:67,525,246...67,532,407
Ensembl chr 9:67,525,557...67,530,738
JBrowse link
G IL5RA interleukin 5 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:59,651,184...59,692,211
Ensembl chr13:59,652,271...59,690,176
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G IL9 interleukin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:138,048,943...138,052,588
Ensembl chr 2:138,048,943...138,052,588
JBrowse link
G INHA inhibin subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006
JBrowse link
G ITGA2 integrin subunit alpha 2 ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse) RGD PMID:19321657 RGD:2307421 NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103
JBrowse link
G ITGB4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611
JBrowse link
G ITGB6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:67,041,516...67,175,409
Ensembl chr15:67,041,522...67,175,234
JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17989398 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
JBrowse link
G KLK10 kallikrein related peptidase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:55,673,508...55,677,725
Ensembl chr 6:55,673,439...55,677,725
JBrowse link
G LAMA4 laminin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365
JBrowse link
G LGALS3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:184,478,639...184,496,155
Ensembl chr 1:184,478,710...184,497,951
JBrowse link
G LIF LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:47,221,540...47,239,513
Ensembl chr14:47,221,560...47,238,749
JBrowse link
G LOC100623720 collagen alpha-1(VI) chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642
G LOC110261636 serpin B3-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:158,073,431...158,079,267 JBrowse link
G MAP2 microtubule associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:112,156,578...112,462,932
Ensembl chr15:112,236,119...112,462,929
JBrowse link
G MAPRE3 microtubule associated protein RP/EB family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:112,084,467...112,136,079
Ensembl chr 3:112,084,469...112,136,061
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:polymorphisms:multiple: RGD PMID:18927129 RGD:12910825 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:179,478,464...179,479,804
Ensembl chr 1:179,477,992...179,479,801
JBrowse link
G MGP matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:57,665,272...57,669,360
Ensembl chr 5:57,665,248...57,669,764
JBrowse link
G MMP11 matrix metallopeptidase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:49,907,684...49,917,494
Ensembl chr14:49,907,687...49,912,617
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679
JBrowse link
G MMP15 matrix metallopeptidase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:19,890,867...19,912,941
Ensembl chr 6:19,891,107...19,912,913
JBrowse link
G MMP19 matrix metallopeptidase 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:21,279,514...21,285,943
Ensembl chr 5:21,280,130...21,285,774
JBrowse link
G MMP7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080
JBrowse link
G MUC4 mucin 4, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:134,192,412...134,248,435 JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591
JBrowse link
G PAEP progestagen associated endometrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642
G PGF placental growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741
JBrowse link
G PRLR prolactin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr16:20,637,568...20,655,881
Ensembl chr16:20,618,875...20,810,140
JBrowse link
G PTGIS prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:51,153,151...51,200,515
Ensembl chr17:51,153,154...51,200,300
JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415
JBrowse link
G RBP4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
JBrowse link
G SDF2L1 stromal cell derived factor 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:50,249,607...50,251,636
Ensembl chr14:50,246,710...50,251,642
JBrowse link
G SPAG5 sperm associated antigen 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:44,827,947...44,848,527
Ensembl chr12:44,827,949...44,848,566
JBrowse link
G SST somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:125,337,560...125,338,742
Ensembl chr13:125,337,418...125,338,850
JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
JBrowse link
G TGFBI transforming growth factor beta induced ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,834
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581
JBrowse link
G TNFSF10 TNF superfamily member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr13:111,021,952...111,103,060
Ensembl chr13:110,983,298...111,038,324
JBrowse link
G TNFSF13 TNF superfamily member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:52,853,646...52,857,033
Ensembl chr12:52,853,904...52,857,029
JBrowse link
G TNR tenascin R ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:117,365,930...117,790,332
Ensembl chr 9:117,373,545...117,771,224
JBrowse link
G TRAF1 TNF receptor associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:260,948,191...260,973,978
Ensembl chr 1:260,949,111...260,973,709
JBrowse link
Embryo Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 5:21,365,723...21,372,170
Ensembl chr 5:21,365,764...21,372,168
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:18384776 RGD:2306554 NCBI chr14:91,516,383...91,543,857
Ensembl chr14:91,516,431...91,552,752
JBrowse link
G FOXO3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325
JBrowse link
G GPX4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12566075 NCBI chr 2:77,321,568...77,323,931
Ensembl chr 2:77,320,464...77,323,931
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17008600 NCBI chr 2:5,209,435...5,227,543
Ensembl chr 2:5,209,439...5,227,758
JBrowse link
G IGF2 insulin like growth factor 2 ISO DNA:methylation: : RGD PMID:18778817 RGD:5509951 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IL18 interleukin 18 ISO RGD PMID:21920610 RGD:8655947 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G LCMT1 leucine carboxyl methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17724024 NCBI chr 3:21,548,349...21,593,667 JBrowse link
G LIF LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:23409146 NCBI chr14:47,221,540...47,239,513
Ensembl chr14:47,221,560...47,238,749
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO RGD PMID:22972987 RGD:155663421 NCBI chr 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057
JBrowse link
G MIR105-2 microRNA mir-105-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr  X:123,630,499...123,630,578
Ensembl chr  X:123,630,499...123,630,578
JBrowse link
G NLRP5 NLR family pyrin domain containing 5 ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality ClinVar NCBI chr 6:60,375,670...60,418,908
Ensembl chr 6:60,379,623...60,409,465
JBrowse link
G PARG poly(ADP-ribose) glycohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15591342 NCBI chr14:90,338,599...90,481,015
Ensembl chr14:90,338,510...90,480,989
JBrowse link
G SALL1 spalt like transcription factor 1 ISO RGD PMID:11688560 RGD:155641230 NCBI chr 6:33,731,666...33,748,698
Ensembl chr 6:33,732,025...33,748,704
JBrowse link
G SALL4 spalt like transcription factor 4 ISO RGD PMID:16790473 RGD:155631313 NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190
JBrowse link
G SLC31A1 solute carrier family 31 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11391004 NCBI chr 1:253,868,389...253,893,135
Ensembl chr 1:253,868,332...253,894,449
JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO RGD PMID:22972987 RGD:155663421 NCBI chr 1:16,533,364...16,611,879
Ensembl chr 1:16,533,285...16,611,884
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:22972987 RGD:155663421 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
JBrowse link
G UBE2N ubiquitin conjugating enzyme E2 N ISO CTD Direct Evidence: marker/mechanism CTD PMID:16738225 NCBI chr 5:89,673,306...89,716,345
Ensembl chr 5:89,702,682...89,714,279
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 8:102,387,833...102,420,868
Ensembl chr 8:102,388,103...102,425,750
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:19086990 RGD:11039490 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
JBrowse link
G ASIC5 acid sensing ion channel subunit family member 5 ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 ClinVar NCBI chr 8:44,646,451...44,674,639
Ensembl chr 8:44,646,814...44,674,650
JBrowse link
G CBX3 chromobox 3 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr18:46,193,138...46,205,114
Ensembl chr18:46,193,140...46,204,714
JBrowse link
G CCDC68 coiled-coil domain containing 68 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 1:104,424,413...104,474,581
Ensembl chr 1:104,424,001...104,474,489
JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 ClinVar NCBI chr  X:43,922,729...43,988,939
Ensembl chr  X:43,922,804...43,990,929
JBrowse link
G CDK2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 5:21,365,723...21,372,170
Ensembl chr 5:21,365,764...21,372,168
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761
JBrowse link
G CENPH centromere protein H ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr16:47,353,319...47,378,746
Ensembl chr16:47,353,324...47,378,745
JBrowse link
G CREB5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30100398 NCBI chr18:43,840,553...44,264,514
Ensembl chr18:43,844,942...44,261,031
JBrowse link
G F2 coagulation factor II, thrombin 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 chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
JBrowse link
G F5 coagulation factor V susceptibility ISO ClinVar Annotator: match by term: FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO | ClinVar 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 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066
JBrowse link
G FOXO3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:16414944 PMID:22581653 PMID:25741868 PMID:34398675 NCBI chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111
JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNPs: :677C>T, 1298A>C (human)
DNA:SNP: :1298A>C (human)
RGD PMID:19906129 PMID:22047507 PMID:22882325 RGD:10449404 RGD:10449411 RGD:10449415 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
JBrowse link
G PIF1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:25741868 NCBI chr 1:107,218,580...107,227,171
Ensembl chr 1:107,218,657...107,227,168
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 ClinVar NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149
JBrowse link
G PLK1 polo like kinase 1 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 3:22,537,814...22,550,901
Ensembl chr 3:22,537,831...22,552,380
JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:25741868 NCBI chr 1:273,011,736...273,021,956
Ensembl chr 1:273,011,734...273,021,938
JBrowse link
G SYCP3 synaptonemal complex protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19110213 NCBI chr 5:82,492,744...82,501,068
Ensembl chr 5:82,493,034...82,501,656
JBrowse link
G THBD thrombomodulin susceptibility ISO DNA:SNP: :1418C>T (human) RGD PMID:23954867 RGD:11038683 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099
JBrowse link
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 chr 2:75,537,641...75,550,676 JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PADI6 peptidyl arginine deiminase 6 ISO ClinVar Annotator: match by term: 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 6:75,969,855...75,987,097
Ensembl chr 6:75,969,958...75,987,093
JBrowse link
Threatened Abortion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIBF1 progesterone immunomodulatory binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15760377 NCBI chr11:45,076,046...45,362,708
Ensembl chr11:45,076,062...45,362,887
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15426
    disease of anatomical entity 15095
      Urogenital Diseases 4851
        Female Urogenital Diseases and Pregnancy Complications 2558
          Pregnancy Complications 771
            Spontaneous Abortions 146
              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