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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: RPL;   RPRGL;   miscarriage;   miscarriages;   recurrent embryonic loss;   recurrent spontaneous abortion;   recurrent stillbirth;   spontaneous abortion;   tubal abortion;   tubal abortions
 related_synonym: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1;   PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2;   PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3;   RPRGL1;   RPRGL2;   RPRGL3;   recurrent fetal loss, susceptibility to
 primary_id: MESH:D000022
 alt_id: OMIM:614389;   OMIM:614390;   OMIM:614391;   RDO:0004689;   RDO:0016150;   RDO:0016151;   RDO:0016152
For additional species annotation, visit the Alliance of Genome Resources.



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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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236
JBrowse link
G ACKR4 atypical chemokine receptor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:132,597,270...132,602,644
Ensembl chr 3:132,597,270...132,618,967
JBrowse link
G AGTR1 angiotensin II receptor type 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G AHR aryl hydrocarbon receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:26593447 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
JBrowse link
G ALPG alkaline phosphatase, germ cell EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:232,406,844...232,410,714
Ensembl chr 2:232,406,844...232,410,714
JBrowse link
G ANXA5 annexin A5 susceptibility IAGP
EXP
CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 4:121,667,946...121,696,994
Ensembl chr 4:121,667,946...121,696,995
JBrowse link
G APOE apolipoprotein E EXP CTD Direct Evidence: marker/mechanism CTD PMID:22266326 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:150,809,713...150,876,737
Ensembl chr 1:150,809,713...150,876,708
JBrowse link
G ASIC5 acid sensing ion channel subunit family member 5 IAGP ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 ClinVar NCBI chr 4:155,829,699...155,867,303
Ensembl chr 4:155,829,729...155,866,277
JBrowse link
G CBX3 chromobox 3 IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 7:26,201,443...26,213,607
Ensembl chr 7:26,201,162...26,213,607
JBrowse link
G CCDC68 coiled-coil domain containing 68 IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr18:54,901,509...54,959,539
Ensembl chr18:54,901,509...54,959,461
JBrowse link
G CCL5 C-C motif chemokine ligand 5 IEP associated with Pregnancy in Diabetics;protein:decreased expression:serum RGD PMID:17924206 RGD:2307065 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CCNB3 cyclin B3 IAGP ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 ClinVar NCBI chr  X:50,202,713...50,351,914
Ensembl chr  X:50,202,713...50,351,914
JBrowse link
G CD163 CD163 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:7,470,811...7,503,808
Ensembl chr12:7,470,811...7,503,893
JBrowse link
G CD164 CD164 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:109,366,514...109,382,467
Ensembl chr 6:109,366,514...109,382,467
JBrowse link
G CD226 CD226 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr18:69,853,274...69,962,086
Ensembl chr18:69,831,158...69,961,803
JBrowse link
G CD68 CD68 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
JBrowse link
G CD69 CD69 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:9,752,486...9,760,901
Ensembl chr12:9,752,486...9,760,901
JBrowse link
G CD7 CD7 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:82,314,865...82,320,829
Ensembl chr17:82,314,868...82,317,608
JBrowse link
G CD82 CD82 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:20075392 NCBI chr11:44,565,610...44,620,363
Ensembl chr11:44,564,427...44,620,358
JBrowse link
G CD84 CD84 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:160,541,098...160,579,515
Ensembl chr 1:160,541,095...160,579,516
JBrowse link
G CD8A CD8a molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
JBrowse link
G CEACAM1 CEA cell adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr19:42,507,306...42,528,482
Ensembl chr19:42,507,304...42,561,234
JBrowse link
G CEACAM5 CEA cell adhesion molecule 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr19:41,708,626...41,730,433
Ensembl chr19:41,708,585...41,730,433
JBrowse link
G CEACAM6 CEA cell adhesion molecule 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr19:41,755,529...41,772,211
Ensembl chr19:41,750,977...41,772,211
JBrowse link
G CENPH centromere protein H IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 5:69,189,583...69,210,357
Ensembl chr 5:69,189,574...69,210,357
JBrowse link
G CHIA chitinase acidic EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:111,290,851...111,320,566
Ensembl chr 1:111,290,851...111,320,566
JBrowse link
G COL13A1 collagen type XIII alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr10:69,801,835...69,959,144
Ensembl chr10:69,801,880...69,964,275
JBrowse link
G COL1A1 collagen type I alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL4A6 collagen type IV alpha 6 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr  X:108,155,607...108,439,493
Ensembl chr  X:108,155,607...108,439,497
JBrowse link
G COL5A1 collagen type V alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:134,641,789...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G COL5A2 collagen type V alpha 2 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:189,031,898...189,225,301
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G COL6A1 collagen type VI alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G COL6A3 collagen type VI alpha 3 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:237,324,018...237,434,822
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G COL9A2 collagen type IX alpha 2 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:40,300,487...40,317,653
Ensembl chr 1:40,300,489...40,317,813
JBrowse link
G CRISP3 cysteine rich secretory protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:49,727,376...49,744,388
Ensembl chr 6:49,727,376...49,744,437
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:165,469,680...165,689,407
Ensembl chr 2:165,469,647...165,689,407
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19022366 PMID:26593447 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr20:54,145,731...54,174,032
Ensembl chr20:54,153,446...54,173,986
JBrowse link
G DHFR dihydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:80,626,226...80,654,983
Ensembl chr 5:80,626,226...80,654,983
JBrowse link
G DIAPH2-AS1 DIAPH2 antisense RNA 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr  X:97,528,364...97,564,535
Ensembl chr  X:97,431,286...97,642,589
JBrowse link
G ECM1 extracellular matrix protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789
JBrowse link
G ECM2 extracellular matrix protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:92,493,547...92,536,841
Ensembl chr 9:92,493,554...92,536,655
JBrowse link
G EMP1 epithelial membrane protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:13,196,726...13,219,941
Ensembl chr12:13,196,723...13,219,941
JBrowse link
G F11 coagulation factor XI IEP protein:increased activity:blood: RGD PMID:25517908 RGD:11041767 NCBI chr 4:186,265,964...186,290,727
Ensembl chr 4:186,266,189...186,289,681
JBrowse link
G F12 coagulation factor XII IEP protein:decreased activity: : RGD PMID:24597288 RGD:11041799 NCBI chr 5:177,402,138...177,409,564
Ensembl chr 5:177,402,141...177,409,564
JBrowse link
G F13A1 coagulation factor XIII A chain ISO RGD PMID:12933578 RGD:10450744 NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
JBrowse link
G F2 coagulation factor II, thrombin susceptibility IAGP
EXP
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2222810 PMID:2429850 PMID:6305407 PMID:8696333 PMID:8896550 More... NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:12579195 RGD:1300308 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
JBrowse link
G F5 coagulation factor V susceptibility IAGP
EXP
ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... NCBI chr 1:169,511,951...169,586,630
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G FETUB fetuin B EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:186,635,969...186,653,141
Ensembl chr 3:186,635,969...186,653,141
JBrowse link
G FGF7 fibroblast growth factor 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr20:14,322,985...14,337,847
Ensembl chr20:14,322,985...14,337,614
JBrowse link
G FN1 fibronectin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:215,360,862...215,436,167
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G FST follistatin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:53,480,338...53,487,134
Ensembl chr 5:53,480,626...53,487,134
JBrowse link
G GLS glutaminase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:190,880,821...190,965,552
Ensembl chr 2:190,880,821...190,965,552
JBrowse link
G HABP2 hyaluronan binding protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr10:113,550,831...113,589,602
Ensembl chr10:113,550,837...113,589,602
JBrowse link
G HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:42,552,923...42,555,214
Ensembl chr17:42,552,922...42,555,214
JBrowse link
G IFI35 interferon induced protein 35 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:43,006,784...43,014,459
Ensembl chr17:43,006,740...43,014,456
JBrowse link
G IFI44 interferon induced protein 44 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:78,648,943...78,664,078
Ensembl chr 1:78,649,796...78,664,078
JBrowse link
G IFI6 interferon alpha inducible protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:27,666,061...27,672,229
Ensembl chr 1:27,666,064...27,672,212
JBrowse link
G IFNA10 interferon alpha 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:21,206,181...21,207,143
Ensembl chr 9:21,206,181...21,207,143
JBrowse link
G IGF1 insulin like growth factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGF2 insulin like growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 7:45,888,488...45,893,660
Ensembl chr 7:45,888,360...45,893,660
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:53,097,667...53,102,340
Ensembl chr12:53,097,436...53,102,345
JBrowse link
G IL11 interleukin 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr19:55,364,382...55,370,463
Ensembl chr19:55,364,382...55,370,463
JBrowse link
G IL12B interleukin 12B EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,487
JBrowse link
G IL16 interleukin 16 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr15:81,196,879...81,314,058
Ensembl chr15:81,159,575...81,314,058
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL20RA interleukin 20 receptor subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:136,999,971...137,044,965
Ensembl chr 6:136,999,971...137,045,180
JBrowse link
G IL24 interleukin 24 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:206,897,404...206,904,139
Ensembl chr 1:206,897,443...206,904,139
JBrowse link
G IL5RA interleukin 5 receptor subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:3,066,324...3,110,414
Ensembl chr 3:3,066,324...3,126,613
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IL9 interleukin 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:135,892,246...135,895,841
Ensembl chr 5:135,892,246...135,895,841
JBrowse link
G INHA inhibin subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711
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 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
JBrowse link
G ITGB4 integrin subunit beta 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:75,721,339...75,757,819
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G ITGB6 integrin subunit beta 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,200,313
JBrowse link
G JAK2 Janus kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17989398 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:16414944 PMID:22581653 PMID:25741868 PMID:34398675 NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
JBrowse link
G KLK10 kallikrein related peptidase 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr19:51,012,739...51,020,097
Ensembl chr19:51,012,739...51,020,175
JBrowse link
G LAMA4 laminin subunit alpha 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 6:112,107,931...112,254,722
Ensembl chr 6:112,107,931...112,254,939
JBrowse link
G LGALS14 galectin 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr19:39,704,481...39,709,444
Ensembl chr19:39,704,481...39,709,444
JBrowse link
G LGALS3 galectin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:55,129,252...55,145,430
Ensembl chr14:55,124,110...55,145,423
JBrowse link
G LIF LIF interleukin 6 family cytokine EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr22:30,240,453...30,257,487
Ensembl chr22:30,240,453...30,246,759
JBrowse link
G MAP2 microtubule associated protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:209,424,047...209,734,118
Ensembl chr 2:209,424,047...209,734,118
JBrowse link
G MAPRE3 microtubule associated protein RP/EB family member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 2:26,970,637...27,027,219
Ensembl chr 2:26,970,637...27,027,219
JBrowse link
G MBL2 mannose binding lectin 2 IAGP DNA:polymorphisms:multiple: RGD PMID:18927129 RGD:12910825 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481
JBrowse link
G MGP matrix Gla protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
JBrowse link
G MMP11 matrix metallopeptidase 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr22:23,772,849...23,784,316
Ensembl chr22:23,768,226...23,784,316
JBrowse link
G MMP12 matrix metallopeptidase 12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982
JBrowse link
G MMP15 matrix metallopeptidase 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr16:58,025,754...58,046,901
Ensembl chr16:58,025,754...58,046,901
JBrowse link
G MMP19 matrix metallopeptidase 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:55,835,433...55,842,971
Ensembl chr12:55,835,433...55,842,966
JBrowse link
G MMP26 matrix metallopeptidase 26 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr11:4,704,784...4,992,429
Ensembl chr11:4,704,784...4,992,429
JBrowse link
G MMP7 matrix metallopeptidase 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750
JBrowse link
G MUC4 mucin 4, cell surface associated EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
JBrowse link
G NCAM1 neural cell adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,247...113,278,436
JBrowse link
G PAEP progestagen associated endometrial protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:135,561,627...135,566,955
Ensembl chr 9:135,561,756...135,566,955
JBrowse link
G PCDHA3 protocadherin alpha 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:140,801,057...141,012,347
Ensembl chr 5:140,801,028...141,012,347
JBrowse link
G PGF placental growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
JBrowse link
G PIF1 PIF1 5'-to-3' DNA helicase IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr15:64,815,632...64,827,173
Ensembl chr15:64,815,632...64,825,668
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 ClinVar NCBI chr 6:51,614,685...52,087,625
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G PLK1 polo like kinase 1 IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr16:23,678,889...23,690,367
Ensembl chr16:23,677,656...23,690,367
JBrowse link
G PRLR prolactin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:35,048,756...35,230,724
Ensembl chr 5:35,048,756...35,230,487
JBrowse link
G PTGIS prostaglandin I2 synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
JBrowse link
G PTHLH parathyroid hormone like hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr12:27,958,084...27,972,864
Ensembl chr12:27,958,084...27,972,733
JBrowse link
G RBP4 retinol binding protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 9:133,406,058...133,418,172
Ensembl chr 9:133,406,059...133,418,096
JBrowse link
G SDF2L1 stromal cell derived factor 2 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr22:21,642,302...21,644,299
Ensembl chr22:21,642,302...21,644,299
JBrowse link
G SERPINB3 serpin family B member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr18:63,655,197...63,661,893
Ensembl chr18:63,655,197...63,661,893
JBrowse link
G SERPINB4 serpin family B member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr18:63,637,259...63,644,310
Ensembl chr18:63,637,259...63,644,256
JBrowse link
G SPAG5 sperm associated antigen 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:28,577,574...28,599,025
Ensembl chr17:28,577,565...28,599,025
JBrowse link
G SST somatostatin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:187,668,912...187,670,394
Ensembl chr 3:187,668,912...187,670,394
JBrowse link
G TFRC transferrin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:196,018,694...196,082,123
Ensembl chr 3:196,027,183...196,082,096
JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TGFBI transforming growth factor beta induced EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:99,104,038...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
JBrowse link
G TNFSF10 TNF superfamily member 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 3:172,505,508...172,523,430
Ensembl chr 3:172,505,508...172,523,475
JBrowse link
G TNFSF13 TNF superfamily member 13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr17:7,558,282...7,561,601
Ensembl chr17:7,558,292...7,561,608
JBrowse link
G TNR tenascin R EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 1:175,315,194...175,743,702
Ensembl chr 1:175,315,194...175,743,616
JBrowse link
G TRAF1 TNF receptor associated factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539642 NCBI chr 9:120,902,393...120,929,171
Ensembl chr 9:120,902,393...120,929,173
JBrowse link
Embryo Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL12 C-X-C motif chemokine ligand 12 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:18384776 RGD:2306554 NCBI chr10:44,292,088...44,385,097
Ensembl chr10:44,370,165...44,386,493
JBrowse link
G GPX4 glutathione peroxidase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12566075 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,926...1,106,791
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17008600 NCBI chr11:67,266,420...67,286,556
Ensembl chr11:67,266,473...67,286,556
JBrowse link
G IGF2 insulin like growth factor 2 ISO DNA:methylation: : RGD PMID:18778817 RGD:5509951 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:21920610 RGD:8655947 NCBI chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G LCMT1 leucine carboxyl methyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17724024 NCBI chr16:25,111,702...25,178,231
Ensembl chr16:25,111,731...25,178,231
JBrowse link
G LIF LIF interleukin 6 family cytokine EXP CTD Direct Evidence: marker/mechanism CTD PMID:23409146 NCBI chr22:30,240,453...30,257,487
Ensembl chr22:30,240,453...30,246,759
JBrowse link
G NLRP5 NLR family pyrin domain containing 5 IAGP ClinVar Annotator: match by term: Preimplantation embryonic lethality ClinVar NCBI chr19:55,999,726...56,061,810
Ensembl chr19:55,999,726...56,061,810
JBrowse link
G PARG poly(ADP-ribose) glycohydrolase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15591342 NCBI chr10:49,818,279...49,942,027
Ensembl chr10:49,818,279...49,970,203
JBrowse link
G SLC31A1 solute carrier family 31 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11391004 NCBI chr 9:113,221,544...113,264,492
Ensembl chr 9:113,221,544...113,264,492
JBrowse link
G UBE2N ubiquitin conjugating enzyme E2 N EXP CTD Direct Evidence: marker/mechanism CTD PMID:16738225 NCBI chr12:93,405,684...93,442,336
Ensembl chr12:93,405,673...93,441,947
JBrowse link
Habitual Abortions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E IAGP RGD PMID:19086990 RGD:11039490 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G CBX3 chromobox 3 IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 7:26,201,443...26,213,607
Ensembl chr 7:26,201,162...26,213,607
JBrowse link
G CCDC68 coiled-coil domain containing 68 IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr18:54,901,509...54,959,539
Ensembl chr18:54,901,509...54,959,461
JBrowse link
G CENPH centromere protein H IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 5:69,189,583...69,210,357
Ensembl chr 5:69,189,574...69,210,357
JBrowse link
G CREB5 cAMP responsive element binding protein 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30100398 NCBI chr 7:28,299,321...28,825,894
Ensembl chr 7:28,299,321...28,825,894
JBrowse link
G F5 coagulation factor V IAGP ClinVar Annotator: match by term: ABORTION, SPONTANEOUS, RECURRENT ClinVar PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... NCBI chr 1:169,511,951...169,586,630
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:16414944 PMID:22581653 PMID:25741868 PMID:34398675 NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association IAGP DNA:SNPs: :677C>T, 1298A>C (human)
DNA:SNP: :1298A>C (human)
RGD PMID:22047507 PMID:19906129 PMID:22882325 RGD:10449404, RGD:10449411, RGD:10449415 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G PIF1 PIF1 5'-to-3' DNA helicase IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr15:64,815,632...64,827,173
Ensembl chr15:64,815,632...64,825,668
JBrowse link
G PLK1 polo like kinase 1 IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr16:23,678,889...23,690,367
Ensembl chr16:23,677,656...23,690,367
JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease IAGP ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chr 9:133,406,058...133,418,172
Ensembl chr 9:133,406,059...133,418,096
JBrowse link
G SYCP3 synaptonemal complex protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19110213 NCBI chr12:101,728,648...101,739,721
Ensembl chr12:101,728,648...101,739,472
JBrowse link
G THBD thrombomodulin susceptibility IAGP DNA:SNP: :1418C>T (human) RGD PMID:23954867 RGD:11038683 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
Preimplantation Embryonic Lethality 1 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 IAGP ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 ClinVar
OMIM
PMID:25741868 PMID:26537248 NCBI chr19:2,977,410...2,995,184
Ensembl chr19:2,977,538...2,995,179
JBrowse link
Preimplantation Embryonic Lethality 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PADI6 peptidyl arginine deiminase 6 IAGP ClinVar Annotator: match by term: Preimplantation embryonic lethality 2 ClinVar
OMIM
PMID:27545678 NCBI chr 1:17,372,196...17,401,699
Ensembl chr 1:17,372,196...17,401,699
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15760377 NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20287
    disease of anatomical entity 18891
      Urogenital Diseases 4866
        Female Urogenital Diseases and Pregnancy Complications 2229
          Pregnancy Complications 592
            Spontaneous Abortions 145
              Embryo Loss + 13
              Habitual Abortions + 13
              Incomplete Abortion 0
              Missed Abortions 0
              Septic Abortions 0
              Threatened Abortion 1
              Veterinary Abortion + 0
paths to the root