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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:8,189,267...8,229,415
Ensembl chr  X:15,470,896...15,510,891 		JBrowse link
G ACKR4 atypical chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:129,670,181...129,675,026
Ensembl chr 3:137,150,087...137,151,139 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380 		JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26593447 NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171 		JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:22266326 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490 		JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:126,160,017...126,226,222
Ensembl chr 1:129,809,431...129,875,629 		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 chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172 		JBrowse link
G CD163 CD163 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023 		JBrowse link
G CD164 CD164 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:107,169,540...107,185,815
Ensembl chr 6:111,218,303...111,234,203 		JBrowse link
G CD226 CD226 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr18:63,238,477...63,379,346
Ensembl chr18:66,533,949...66,627,580 		JBrowse link
G CD68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981 		JBrowse link
G CD69 CD69 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:9,800,446...9,808,874
Ensembl chr12:10,049,668...10,058,094 		JBrowse link
G CD7 CD7 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:76,724,313...76,727,998
Ensembl chr17:82,535,558...82,537,847 		JBrowse link
G CD82 CD82 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20075392 NCBI chr11:44,526,010...44,581,560
Ensembl chr11:45,020,319...45,075,876 		JBrowse link
G CD84 CD84 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:135,901,375...135,934,791
Ensembl chr 1:139,819,254...139,857,559 		JBrowse link
G CD8A CD8 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr2A:86,832,559...86,855,772
Ensembl chr2A:88,377,722...88,382,635 		JBrowse link
G CEACAM1 CEA cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr19:39,395,550...39,417,063
Ensembl chr19:47,989,430...48,008,739 		JBrowse link
G CEACAM5 CEA cell adhesion molecule 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr19:38,599,814...38,620,954
Ensembl chr19:47,105,539...47,124,284 		JBrowse link
G CHIA chitinase acidic ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:113,935,888...113,965,541
Ensembl chr 1:126,381,724...126,391,909 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803 		JBrowse link
G COL4A6 collagen type IV alpha 6 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr  X:97,254,306...97,539,473
Ensembl chr  X:107,625,718...107,908,363 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr21:32,322,185...32,346,850
Ensembl chr21:45,584,096...45,607,240 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr2B:124,554,478...124,644,482 JBrowse link
G COL9A2 collagen type IX alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:39,596,050...39,613,316
Ensembl chr 1:40,918,814...40,935,953 		JBrowse link
G CRISP3 cysteine rich secretory protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:49,297,914...49,314,978
Ensembl chr 6:50,559,742...50,568,518 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729 		JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr2B:52,744,717...52,962,741
Ensembl chr2B:170,122,687...170,311,348 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19022366 PMID:26593447 NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716 		JBrowse link
G DHFR dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003 		JBrowse link
G ECM1 extracellular matrix protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:125,853,337...125,858,904
Ensembl chr 1:129,502,041...129,507,819 		JBrowse link
G ECM2 extracellular matrix protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:63,617,088...63,659,055
Ensembl chr 9:91,691,721...91,718,230 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr17:12,423,198...12,472,462
Ensembl chr17:12,595,715...12,644,147 		JBrowse link
G EMP1 epithelial membrane protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 Ensembl chr12:13,610,060...13,630,819 JBrowse link
G F11 coagulation factor XI ISO protein:increased activity:blood: RGD PMID:25517908 RGD:11041767 NCBI chr 4:178,436,865...178,459,568
Ensembl chr 4:190,643,733...190,666,512 		JBrowse link
G F12 coagulation factor XII ISO protein:decreased activity: : RGD PMID:24597288 RGD:11041799 NCBI chr 5:172,703,724...172,711,618
Ensembl chr 5:179,766,243...179,773,485 		JBrowse link
G F13A1 coagulation factor XIII A chain ISO RGD PMID:12933578 RGD:10450744 NCBI chr 6:5,978,505...6,156,705
Ensembl chr 6:6,157,926...6,513,961 		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 chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157 		JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:12579195 RGD:1300308 NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050 		JBrowse link
G FETUB fetuin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:183,675,258...183,687,754
Ensembl chr 3:192,142,702...192,154,920 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163 		JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr20:14,294,903...14,310,584
Ensembl chr20:14,281,522...14,283,471 		JBrowse link
G FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003 		JBrowse link
G FST follistatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:60,544,495...60,550,516 JBrowse link
G GLS glutaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr2B:78,182,117...78,267,071
Ensembl chr2B:196,098,910...196,183,323 		JBrowse link
G HABP2 hyaluronan binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr10:110,146,311...110,182,871
Ensembl chr10:113,580,321...113,616,810 		JBrowse link
G HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:14,760,856...14,763,584
Ensembl chr17:14,986,814...14,988,820 		JBrowse link
G IFI35 interferon induced protein 35 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:14,310,106...14,317,648
Ensembl chr17:14,539,625...14,544,931 		JBrowse link
G IFI44 interferon induced protein 44 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:77,863,283...77,877,626
Ensembl chr 1:79,943,774...79,958,083 		JBrowse link
G IFI6 interferon alpha inducible protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:26,929,129...26,935,205
Ensembl chr 1:27,972,866...27,978,890 		JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177 		JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890 		JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 7:46,538,566...46,545,536
Ensembl chr 7:46,658,097...46,662,584 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 7:46,564,234...46,573,145 JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:35,654,172...35,659,115
Ensembl chr12:36,435,221...36,440,132 		JBrowse link
G IL11 interleukin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr19:52,407,730...52,426,445
Ensembl chr19:61,096,275...61,101,837 		JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381 		JBrowse link
G IL16 interleukin 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:60,181,827...60,299,406
Ensembl chr15:79,122,988...79,250,861 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G IL20RA interleukin 20 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:134,762,355...134,805,937
Ensembl chr 6:138,848,400...138,866,098 		JBrowse link
G IL24 interleukin 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:182,500,680...182,507,098
Ensembl chr 1:186,779,207...186,785,928 		JBrowse link
G IL5RA interleukin 5 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:3,009,780...3,051,604
Ensembl chr 3:3,112,355...3,156,282 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IL9 interleukin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:131,283,170...131,289,777
Ensembl chr 5:137,425,367...137,428,945 		JBrowse link
G INHA inhibin subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr2B:106,828,948...106,832,993
Ensembl chr2B:225,419,176...225,423,386 		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 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:69,671,252...69,708,520
Ensembl chr17:75,222,376...75,259,401 		JBrowse link
G ITGB6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr2B:47,386,913...47,496,491
Ensembl chr2B:164,764,251...164,867,426 		JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17989398 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626 		JBrowse link
G KLK10 kallikrein related peptidase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr19:47,980,177...47,987,617
Ensembl chr19:56,869,530...56,876,649 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:109,920,329...110,066,076
Ensembl chr 6:113,995,888...114,141,273 		JBrowse link
G LGALS3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412 		JBrowse link
G LIF LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr22:11,276,576...11,282,972
Ensembl chr22:29,078,862...29,095,608 		JBrowse link
G LOC100973165 collagen alpha-1(XIII) chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr10:66,277,302...66,434,410
Ensembl chr10:68,807,425...68,963,642 		JBrowse link
G LOC100976543 CEA cell adhesion molecule 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr19:38,648,451...39,559,050
Ensembl chr19:47,154,101...47,169,691 		JBrowse link
G MAP2 microtubule associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr2B:96,681,268...96,991,650
Ensembl chr2B:215,314,857...215,391,728 		JBrowse link
G MAPRE3 microtubule associated protein RP/EB family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr2A:26,970,010...27,026,223
Ensembl chr2A:27,102,780...27,115,223 		JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:polymorphisms:multiple: RGD PMID:18927129 RGD:12910825 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432 		JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:30,199,011...30,201,566 JBrowse link
G MGP matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:14,887,806...14,891,796
Ensembl chr12:15,284,883...15,288,523 		JBrowse link
G MMP11 matrix metallopeptidase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr22:4,528,639...4,540,118
Ensembl chr22:22,615,969...22,624,567 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762 		JBrowse link
G MMP15 matrix metallopeptidase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr16:38,304,856...38,326,193
Ensembl chr16:57,433,813...57,457,122 		JBrowse link
G MMP19 matrix metallopeptidase 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:33,068,282...33,075,324
Ensembl chr12:33,794,249...33,801,658 		JBrowse link
G MMP26 matrix metallopeptidase 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr11:5,154,066...5,158,891
Ensembl chr11:4,823,666...4,828,035 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099 		JBrowse link
G MUC4 mucin 4, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:193,050,895...193,114,931 JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401 		JBrowse link
G PAEP progestagen associated endometrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:106,669,550...106,681,918 JBrowse link
G PCDHA3 protocadherin alpha 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 Ensembl chr 5:142,280,707...142,283,181 JBrowse link
G PGF placental growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:55,494,152...55,508,066
Ensembl chr14:74,338,976...74,352,964 		JBrowse link
G PRLR prolactin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:75,139,852...75,321,695
Ensembl chr 5:80,532,058...80,600,403 		JBrowse link
G PTGIS prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612 		JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750 		JBrowse link
G RBP4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887 		JBrowse link
G SDF2L1 stromal cell derived factor 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr22:3,764,899...3,766,932
Ensembl chr22:20,248,566...20,250,607 		JBrowse link
G SERPINB4 serpin family B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr18:56,996,437...57,003,489 JBrowse link
G SPAG5 sperm associated antigen 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:28,176,288...28,198,493
Ensembl chr17:28,680,492...28,702,050 		JBrowse link
G SST somatostatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:184,695,561...184,697,091
Ensembl chr 3:193,155,363...193,158,337 		JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		JBrowse link
G TGFBI transforming growth factor beta induced ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:131,420,403...131,455,265
Ensembl chr 5:137,559,321...137,596,392 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964 		JBrowse link
G TNFSF10 TNF superfamily member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:169,512,491...169,530,706
Ensembl chr 3:177,694,021...177,712,137 		JBrowse link
G TNFSF13 TNF superfamily member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:7,589,931...7,593,527
Ensembl chr17:7,576,465...7,579,834 		JBrowse link
G TNR tenascin R ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:150,826,892...151,257,301
Ensembl chr 1:154,532,582...154,615,538 		JBrowse link
G TRAF1 TNF receptor associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:92,030,205...92,056,776
Ensembl chr 9:120,376,592...120,402,948 		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 chr12:32,940,225...32,946,236
Ensembl chr12:33,189,934...33,195,945 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599 		JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:18384776 RGD:2306554 NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231 		JBrowse link
G FOXO3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272 		JBrowse link
G GPX4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12566075 NCBI chr19:20,904...23,828 JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17008600 NCBI chr11:62,624,647...62,644,846
Ensembl chr11:65,939,164...65,959,066 		JBrowse link
G IGF2 insulin like growth factor 2 ISO DNA:methylation: : RGD PMID:18778817 RGD:5509951 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890 		JBrowse link
G IL18 interleukin 18 ISO RGD PMID:21920610 RGD:8655947 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371 		JBrowse link
G LCMT1 leucine carboxyl methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17724024 Ensembl chr16:25,351,814...25,418,285 JBrowse link
G LIF LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:23409146 NCBI chr22:11,276,576...11,282,972
Ensembl chr22:29,078,862...29,095,608 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO RGD PMID:22972987 RGD:155663421 NCBI chr 6:88,398,329...88,470,926
Ensembl chr 6:91,664,263...91,737,468 		JBrowse link
G NLRP5 NLR family pyrin domain containing 5 ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality ClinVar NCBI chr19:53,021,034...53,083,590
Ensembl chr19:61,818,345...61,879,538 		JBrowse link
G PARG poly(ADP-ribose) glycohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15591342 NCBI chr10:44,290,391...44,420,184 JBrowse link
G SALL1 spalt like transcription factor 1 ISO RGD PMID:11688560 RGD:155641230 NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO RGD PMID:16790473 RGD:155631313 NCBI chr20:48,130,387...48,150,569
Ensembl chr20:49,254,039...49,273,589 		JBrowse link
G SLC31A1 solute carrier family 31 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11391004 NCBI chr 9:84,319,304...84,362,288
Ensembl chr 9:112,691,503...112,734,352 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO RGD PMID:22972987 RGD:155663421 NCBI chr 6:147,138,553...147,231,559
Ensembl chr 6:151,868,513...151,936,841 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:22972987 RGD:155663421 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613 		JBrowse link
G UBE2N ubiquitin conjugating enzyme E2 N ISO CTD Direct Evidence: marker/mechanism CTD PMID:16738225 NCBI chr12:90,951,446...90,984,075 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 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972 		JBrowse link
G APOE apolipoprotein E ISO RGD PMID:19086990 RGD:11039490 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490 		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 4:148,195,680...148,232,042
Ensembl chr 4:160,012,564...160,048,763 		JBrowse link
G CBX3 chromobox 3 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 7:26,847,247...26,859,339
Ensembl chr 7:26,450,411...26,462,350 		JBrowse link
G CCDC68 coiled-coil domain containing 68 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr18:48,280,443...48,337,823
Ensembl chr18:51,616,129...51,658,312 		JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 ClinVar NCBI chr  X:42,409,954...42,511,811
Ensembl chr  X:50,157,122...50,223,547 		JBrowse link
G CDK2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr12:32,940,225...32,946,236
Ensembl chr12:33,189,934...33,195,945 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599 		JBrowse link
G CENPH centromere protein H ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 5:44,793,303...44,814,297
Ensembl chr 5:46,362,206...46,383,139 		JBrowse link
G CREB5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30100398 NCBI chr 7:29,054,505...29,470,528
Ensembl chr 7:28,727,385...29,057,973 		JBrowse link
G F2 coagulation factor II, thrombin ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 ClinVar
OMIM		 PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:8696333 More... NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157 		JBrowse link
G F5 coagulation factor V 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 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915 		JBrowse link
G FOXO3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272 		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 chr11:2,469,750...2,874,467 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 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G PIF1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:25741868 NCBI chr15:43,756,605...43,766,631
Ensembl chr15:62,041,461...62,052,311 		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 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309 		JBrowse link
G PLK1 polo like kinase 1 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr16:14,420,972...14,432,821
Ensembl chr16:23,928,773...23,940,779 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:25741868 NCBI chr 9:104,528,838...104,540,813
Ensembl chr 9:133,140,392...133,152,413 		JBrowse link
G SYCP3 synaptonemal complex protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19110213 NCBI chr12:99,311,260...99,322,007
Ensembl chr12:102,711,837...102,720,728 		JBrowse link
G THBD thrombomodulin susceptibility ISO DNA:SNP: :1418C>T (human) RGD PMID:23954867 RGD:11038683 NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812 		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 chr19:2,003,011...2,020,577
Ensembl chr19:2,953,184...2,978,179 		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 1:16,319,457...16,348,683
Ensembl chr 1:17,373,869...17,404,346 		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 chr13:54,011,239...54,247,952
Ensembl chr13:72,788,608...73,022,473 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15833
    disease of anatomical entity 15489
      Urogenital Diseases 4909
        Female Urogenital Diseases and Pregnancy Complications 2571
          Pregnancy Complications 756
            Spontaneous Abortions 149
              Embryo Loss + 21
              Habitual Abortions + 21
              Incomplete Abortion 0
              Missed Abortions 0
              Septic Abortions 0
              Threatened Abortion 1
              Veterinary Abortion + 0
paths to the root