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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:Female Infertility
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Accession:DOID:9007456 term browser browse the term
Definition:Diminished or absent ability of a female to achieve conception.
Synonyms:exact_synonym: Female Sterility;   Female Subfertility;   female sub-fertility;   postpartum sterility
 primary_id: MESH:D007247
 xref: EFO:0008560;   MIM:PS615774


show annotations for term's descendants           Sort by:
Female Infertility term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipor1 adiponectin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr13:48,411,438...48,431,251
Ensembl chr13:48,411,826...48,431,255 		JBrowse link
G Adipor2 adiponectin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:154,172,567...154,231,666 		JBrowse link
G Afp alpha-fetoprotein ISO RGD PMID:12297623 RGD:1300268 NCBI chr14:17,857,584...17,875,645
Ensembl chr14:17,857,584...17,875,649 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36029422 NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:57,961,423...57,998,901 		JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23710174 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:67,135,317...67,304,467 		JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20200203 NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:176,829,305...176,864,739 		JBrowse link
G Bsg basigin ISO RGD PMID:9559645 RGD:734663 NCBI chr 7:10,643,788...10,651,005
Ensembl chr 7:10,643,789...10,651,005 		JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 8:116,950,860...117,082,159
Ensembl chr 8:116,950,907...117,081,759 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21868453 NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:22,621,501...22,624,976 		JBrowse link
G Cd9 CD9 molecule ISO RGD PMID:10634790 RGD:734730 NCBI chr 4:159,942,553...159,975,463
Ensembl chr 4:159,942,560...159,975,444 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:96,896,171...96,899,309 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:176,816,859...176,838,072 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chr 1:255,476,861...255,484,547
Ensembl chr 1:255,476,861...255,482,974 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14684609 NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:63,449,148...63,476,917 		JBrowse link
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: therapeutic CTD PMID:17519396 NCBI chr 2:23,585,876...23,611,199 JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:34773530 NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:162,604,037...162,629,313 		JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23710174 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:43,644,392...43,900,354 		JBrowse link
G Esr2 estrogen receptor 2 ISO
IMP 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23710174 PMID:28520870 RGD:38548924 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:100,545,206...100,644,709 		JBrowse link
G Esr2em1Soar estrogen receptor 2; ZFN induced mutant 1, Soar IMP RGD PMID:28520870 RGD:38548924
G Fancc FA complementation group C ISO RGD PMID:8704201 RGD:1300317 NCBI chr17:1,686,374...1,818,672
Ensembl chr17:1,687,017...1,835,096 		JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:8220432 NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:114,003,262...114,007,072 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion:: (human) RGD PMID:25010410 RGD:11556525 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 ISO RGD PMID:19022436 RGD:10445839 NCBI chr 9:22,930,249...22,935,929
Ensembl chr 9:22,931,070...22,935,926 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:22143970 RGD:5685640 NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:38,453,041...38,458,790 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO RGD PMID:22976834 RGD:10402865 NCBI chr 4:117,114,631...117,117,793
Ensembl chr 4:117,114,633...117,117,793 		JBrowse link
G Itga2 integrin subunit alpha 2 ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse) RGD PMID:19146775 RGD:2307422 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:48,253,412...48,354,509 		JBrowse link
G Lefty2 Left-right determination factor 2 ISO RGD PMID:10902804 RGD:1598793 NCBI chr13:92,610,185...92,620,918
Ensembl chr13:95,147,139...95,151,657 		JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:58,626,523...58,640,661 		JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215 		JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9457942 NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:105,037,457...105,038,445 		JBrowse link
G Lif LIF, interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:23407384 NCBI chr14:83,354,602...83,364,053
Ensembl chr14:83,358,164...83,364,053 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr11:97,462,025...97,529,193
Ensembl chr11:97,462,025...97,527,825 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:190,797,185...190,803,411 		JBrowse link
G Mos MOS proto-oncogene, serine/threonine kinase ISO DNA:mutations: : RGD PMID:34779126 RGD:596933304 NCBI chr 5:21,657,549...21,658,856
Ensembl chr 5:21,657,431...21,658,987 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16679164 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Nasp nuclear autoantigenic sperm protein ISO RGD PMID:19219058 RGD:9590110 NCBI chr 5:130,057,363...130,083,003
Ensembl chr 5:135,294,032...135,319,591 		JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23710174 NCBI chr11:62,460,213...62,496,665
Ensembl chr11:75,965,632...76,002,380 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17590085 NCBI chr 1:133,419,161...133,434,290
Ensembl chr 1:133,420,227...133,431,975 		JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17409375 NCBI chr13:48,313,634...48,433,494
Ensembl chr13:50,867,920...50,984,938 		JBrowse link
G Pappa pappalysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20130263 NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:83,513,358...83,751,361 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19531635 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:38,288,162...38,298,217 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:24189967 RGD:11099991 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:24,038,597...24,048,964 		JBrowse link
G Rnf212b ring finger protein 212B ISO ClinVar Annotator: match by term: Female infertility ClinVar PMID:25741868 NCBI chr15:32,244,620...32,292,358
Ensembl chr15:32,244,558...32,292,021 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28560483 NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:59,311,041...59,341,281 		JBrowse link
G Stag3 STAG3 cohesin complex component ISO ClinVar Annotator: match by term: Female infertility ClinVar PMID:25741868 NCBI chr12:17,284,677...17,314,936
Ensembl chr12:22,398,295...22,428,557 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22532853 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO RGD PMID:25189766 RGD:11568667 NCBI chr10:14,125,679...14,160,317
Ensembl chr10:14,125,680...14,160,600 		JBrowse link
Oocyte Maturation Defect 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pabpc1l poly(A) binding protein, cytoplasmic 1-like ISO ClinVar Annotator: match by term: Female infertility due to zona pellucida defect ClinVar NCBI chr 3:173,111,856...173,145,389
Ensembl chr 3:173,112,904...173,146,038 		JBrowse link
G Zp1 zona pellucida glycoprotein 1 ISO ClinVar Annotator: match by term: Female infertility due to zona pellucida defect | ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1 | ClinVar Annotator: match by term: ZP1-related condition OMIM
ClinVar		 PMID:24670168 PMID:25741868 PMID:28492532 PMID:30810869 NCBI chr 1:216,984,343...216,993,882
Ensembl chr 1:216,985,768...216,992,148 		JBrowse link
Oocyte Maturation Defect 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Oocyte maturation defect 2 ClinVar PMID:24033266 PMID:25741868 PMID:28965844 PMID:29661911 PMID:32552793 NCBI chr 3:129,526,563...129,543,267
Ensembl chr 3:129,527,845...129,537,486 		JBrowse link
Oocyte Maturation Defect 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zp1 zona pellucida glycoprotein 1 ISO ClinVar Annotator: match by term: Oocyte maturation defect 3 ClinVar PMID:25741868 NCBI chr 1:216,984,343...216,993,882
Ensembl chr 1:216,985,768...216,992,148 		JBrowse link
G Zp3 zona pellucida glycoprotein 3 ISO ClinVar Annotator: match by term: Oocyte maturation defect 3 | ClinVar Annotator: match by term: ZP3-related condition OMIM
ClinVar		 PMID:25741868 PMID:28886344 PMID:30810869 NCBI chr12:20,690,547...20,697,513
Ensembl chr12:26,327,161...26,334,126 		JBrowse link
Oocyte Maturation Defect 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Oocyte maturation defect 4 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28965844 PMID:28965849 PMID:29661911 More... NCBI chr 3:129,526,563...129,543,267
Ensembl chr 3:129,527,845...129,537,486 		JBrowse link
Oocyte Maturation Defect 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wee2 WEE2 oocyte meiosis inhibiting kinase ISO ClinVar Annotator: match by term: Oocyte maturation defect 5 | ClinVar Annotator: match by term: WEE2-related condition OMIM
ClinVar		 PMID:25741868 PMID:29606300 PMID:30628060 NCBI chr 4:70,204,459...70,228,813
Ensembl chr 4:70,194,852...70,228,860 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Oocyte maturation defect 10 | ClinVar Annotator: match by term: REC114-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31704776 NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:67,958,421...68,119,234 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Astl astacin like metalloendopeptidase ISO ClinVar Annotator: match by term: Oocyte maturation defect 11 OMIM
ClinVar		 PMID:34704130 NCBI chr 3:114,563,135...114,580,295
Ensembl chr 3:135,016,444...135,032,177 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo43 F-box protein 43 ISO ClinVar Annotator: match by term: Oocyte maturation defect 12 OMIM
ClinVar		 PMID:34052850 PMID:34595750 NCBI chr 7:69,218,298...69,231,873
Ensembl chr 7:69,218,299...69,230,310 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp36l2 zinc finger protein 36, C3H type-like 2 ISO ClinVar Annotator: match by term: Oocyte maturation defect 13 OMIM
ClinVar		 PMID:34611029 NCBI chr 6:16,242,622...16,246,662
Ensembl chr 6:16,242,610...16,246,653 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc20 cell division cycle 20 ISO ClinVar Annotator: match by term: Oocyte maturation defect 14 OMIM
ClinVar		 PMID:25741868 PMID:32666501 PMID:33683667 PMID:33898437 PMID:34218387 NCBI chr 5:137,251,596...137,255,799
Ensembl chr 5:137,251,596...137,255,799 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tle6 TLE family member 6, subcortical maternal complex member ISO ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 | ClinVar Annotator: match by term: TLE6-related condition OMIM
ClinVar		 PMID:25741868 PMID:26537248 PMID:28492532 PMID:36271123 NCBI chr 7:8,107,050...8,118,639
Ensembl chr 7:8,759,925...8,769,404 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 16 term browser
Symbol Object Name 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 5:153,021,855...153,037,443
Ensembl chr 5:158,304,921...158,320,508 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kpna7 karyopherin subunit alpha 7 ISO ClinVar Annotator: match by term: KPNA7-related condition | ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 17 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302074 More... NCBI chr12:9,576,378...9,635,247
Ensembl chr12:14,686,886...14,726,604 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp2 NLR family pyrin domain containing 2 ISO ClinVar Annotator: match by term: NLRP2-related condition | ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 18 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30877238 NCBI chr 1:69,515,505...69,554,689
Ensembl chr 1:78,557,956...78,597,160 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp5 NLR family, pyrin domain containing 5 ISO ClinVar Annotator: match by term: NLRP5-related condition | ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 19 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30877238 PMID:35946397 NCBI chr 1:67,778,037...67,810,941
Ensembl chr 1:76,810,108...77,077,580 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mos MOS proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 20 OMIM
ClinVar		 PMID:25741868 PMID:34779126 PMID:34997960 PMID:35670744 PMID:36403623 NCBI chr 5:21,657,549...21,658,856
Ensembl chr 5:21,657,431...21,658,987 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: CHEK1-related condition | ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 21 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33948904 PMID:33953335 NCBI chr 8:44,609,417...44,629,867
Ensembl chr 8:44,609,417...44,629,359 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pabpc1l poly(A) binding protein, cytoplasmic 1-like ISO ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 22 OMIM
ClinVar		 PMID:37052235 PMID:37723834 PMID:38177974 NCBI chr 3:173,111,856...173,145,389
Ensembl chr 3:173,112,904...173,146,038 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 23 OMIM
ClinVar		 PMID:37024973 PMID:39209701 PMID:39872894 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:84,158,280...84,162,584 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba1c tubulin, alpha 1C ISO ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 24 OMIM
ClinVar		 PMID:39209701 NCBI chr 7:130,192,050...130,199,655
Ensembl chr 7:132,070,536...132,079,311 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zp2 zona pellucida glycoprotein 2 ISO ClinVar Annotator: match by term: Oocyte maturation defect 6 | ClinVar Annotator: match by term: ZP2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28971300 PMID:29895852 PMID:30810869 More... NCBI chr 1:174,513,507...174,525,288
Ensembl chr 1:183,939,880...183,963,075 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Panx1 Pannexin 1 ISO ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 7 | ClinVar Annotator: match by term: Oocyte maturation defect 7 | ClinVar Annotator: match by term: PANX1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30918116 NCBI chr 8:11,851,176...11,889,774
Ensembl chr 8:20,132,165...20,171,200 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Oocyte maturation defect 8 OMIM
ClinVar		 PMID:25741868 PMID:32502391 PMID:34647228 NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:60,317,121...60,322,167 		JBrowse link
Oocyte/Zygote/Embryo Maturation Arrest 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Oocyte maturation defect 9 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29758562 PMID:32473092 PMID:35812326 More... NCBI chr 1:31,185,700...31,230,638
Ensembl chr 1:31,185,594...31,230,634 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      reproductive system disease 3200
        female reproductive system disease 2201
          infertility 445
            Female Infertility 71
              Oocyte Maturation Defect 1 2
              Oocyte Maturation Defect 2 1
              Oocyte Maturation Defect 3 2
              Oocyte Maturation Defect 4 1
              Oocyte Maturation Defect 5 1
              Oocyte/Zygote/Embryo Maturation Arrest 10 1
              Oocyte/Zygote/Embryo Maturation Arrest 11 1
              Oocyte/Zygote/Embryo Maturation Arrest 12 1
              Oocyte/Zygote/Embryo Maturation Arrest 13 1
              Oocyte/Zygote/Embryo Maturation Arrest 14 1
              Oocyte/Zygote/Embryo Maturation Arrest 15 1
              Oocyte/Zygote/Embryo Maturation Arrest 16 1
              Oocyte/Zygote/Embryo Maturation Arrest 17 1
              Oocyte/Zygote/Embryo Maturation Arrest 18 1
              Oocyte/Zygote/Embryo Maturation Arrest 19 1
              Oocyte/Zygote/Embryo Maturation Arrest 20 1
              Oocyte/Zygote/Embryo Maturation Arrest 21 1
              Oocyte/Zygote/Embryo Maturation Arrest 22 1
              Oocyte/Zygote/Embryo Maturation Arrest 23 1
              Oocyte/Zygote/Embryo Maturation Arrest 24 1
              Oocyte/Zygote/Embryo Maturation Arrest 6 1
              Oocyte/Zygote/Embryo Maturation Arrest 7 1
              Oocyte/Zygote/Embryo Maturation Arrest 8 1
              Oocyte/Zygote/Embryo Maturation Arrest 9 1
              female infertility of uterine origin 0
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Urogenital Diseases 5238
        Female Urogenital Diseases and Pregnancy Complications 2693
          Female Urogenital Diseases 2204
            female reproductive system disease 2201
              infertility 445
                Female Infertility 71
                  Oocyte Maturation Defect 1 2
                  Oocyte Maturation Defect 2 1
                  Oocyte Maturation Defect 3 2
                  Oocyte Maturation Defect 4 1
                  Oocyte Maturation Defect 5 1
                  Oocyte/Zygote/Embryo Maturation Arrest 10 1
                  Oocyte/Zygote/Embryo Maturation Arrest 11 1
                  Oocyte/Zygote/Embryo Maturation Arrest 12 1
                  Oocyte/Zygote/Embryo Maturation Arrest 13 1
                  Oocyte/Zygote/Embryo Maturation Arrest 14 1
                  Oocyte/Zygote/Embryo Maturation Arrest 15 1
                  Oocyte/Zygote/Embryo Maturation Arrest 16 1
                  Oocyte/Zygote/Embryo Maturation Arrest 17 1
                  Oocyte/Zygote/Embryo Maturation Arrest 18 1
                  Oocyte/Zygote/Embryo Maturation Arrest 19 1
                  Oocyte/Zygote/Embryo Maturation Arrest 20 1
                  Oocyte/Zygote/Embryo Maturation Arrest 21 1
                  Oocyte/Zygote/Embryo Maturation Arrest 22 1
                  Oocyte/Zygote/Embryo Maturation Arrest 23 1
                  Oocyte/Zygote/Embryo Maturation Arrest 24 1
                  Oocyte/Zygote/Embryo Maturation Arrest 6 1
                  Oocyte/Zygote/Embryo Maturation Arrest 7 1
                  Oocyte/Zygote/Embryo Maturation Arrest 8 1
                  Oocyte/Zygote/Embryo Maturation Arrest 9 1
                  female infertility of uterine origin 0
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