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
Accession: DOID:9003281
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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CD7
CD7 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr12:740,345...744,876
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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
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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
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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
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CEACAM1
CEA cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 6:49,437,308...49,460,614
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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DHFR
dihydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 2:89,230,660...89,255,830
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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
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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
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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
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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
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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
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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
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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
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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 PMID:8916933 PMID:9106528 PMID:9292507 PMID:9462220 PMID:9493607 PMID:9531249 PMID:9569177 PMID:9694698 PMID:9869612 PMID:10027711 PMID:10233438 PMID:10233439 PMID:10336270 PMID:10348710 PMID:10348711 PMID:10348712 PMID:10406905 PMID:10477778 PMID:10544935 PMID:11358905 PMID:11443298 PMID:11506076 PMID:11796466 PMID:11874997 PMID:11904676 PMID:15059842 PMID:15534175 PMID:16493002 PMID:19159930 PMID:19289024 PMID:19531787 PMID:19554541 PMID:19560233 PMID:19652888 PMID:20301327 PMID:21243428 PMID:21349849 PMID:23429074 PMID:24033266 PMID:25741868 PMID:27031503 PMID:28492532 More...
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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IGF2
insulin like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 2:1,469,183...1,496,417
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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LOC110258578
interleukin-1 beta-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
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LOC110261636
serpin B3-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr 1:158,073,431...158,079,267
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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MUC4
mucin 4, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
NCBI chr13:134,192,412...134,248,435
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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
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PAEP
progestagen associated endometrial protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539642
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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IGF2
insulin like growth factor 2
ISO
DNA:methylation: :
RGD
PMID:18778817
RGD:5509951
NCBI chr 2:1,469,183...1,496,417
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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
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LCMT1
leucine carboxyl methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17724024
NCBI chr 3:21,548,349...21,593,667
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:8896550 PMID:8916933 PMID:9106528 PMID:9292507 PMID:9462220 PMID:9493607 PMID:9531249 PMID:9569177 PMID:9694698 PMID:9869612 PMID:10027711 PMID:10233438 PMID:10233439 PMID:10336270 PMID:10348710 PMID:10348711 PMID:10348712 PMID:10406905 PMID:10477778 PMID:10544935 PMID:11358905 PMID:11443298 PMID:11506076 PMID:11796466 PMID:11874997 PMID:11904676 PMID:15059842 PMID:15534175 PMID:16493002 PMID:16606808 PMID:19159930 PMID:19289024 PMID:19531787 PMID:19554541 PMID:19560233 PMID:19652888 PMID:20301327 PMID:21243428 PMID:21349849 PMID:23429074 PMID:24033266 PMID:25741868 PMID:27031503 PMID:28492532 PMID:28707429 PMID:30297698 PMID:34110897 PMID:34355501 PMID:38498041 More...
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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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 PMID:7968118 PMID:8049422 PMID:8164730 PMID:8164741 PMID:8566967 PMID:8616100 PMID:8822583 PMID:9245936 PMID:9339109 PMID:9372726 PMID:9415695 PMID:9454741 PMID:9459326 PMID:9518910 PMID:9734642 PMID:10328130 PMID:10348711 PMID:10477778 PMID:10494770 PMID:10507841 PMID:10666427 PMID:11018168 PMID:11110695 PMID:11686338 PMID:12069454 PMID:12070000 PMID:12421138 PMID:14996674 PMID:15208046 PMID:15534175 PMID:15638861 PMID:15946211 PMID:16493002 PMID:16769590 PMID:16931580 PMID:17145618 PMID:19652888 PMID:20051284 PMID:21116184 PMID:21774968 PMID:22704462 PMID:22992668 PMID:23382263 PMID:23677252 PMID:23900608 PMID:24033266 PMID:25741868 PMID:25977387 PMID:26251307 PMID:26990548 PMID:27797270 PMID:28492532 PMID:28750087 PMID:30924984 PMID:34355501 More...
NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:37778376 More...
NCBI chr 6:75,969,855...75,987,097
Ensembl chr 6:75,969,958...75,987,093
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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
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