Primary ovarian insufficiency (Homo sapiens)

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SyndromicNon-SyndromicCYP19A114BMP1514MCM914TSHBBCKDHB39ESR236ACVR2B4251FOXO1HSF2BP1314GAS5RCBTB13814MIR224ANTXR114NOGCAV152WNT442AIRE1414PSMC3IP14SPIDR14AFF2S1PR121AKT14945SOHLH114EIF4ENIF1SIRT142HELQ4814MMP253SBP123CYP17A114PCCBPTEN42TG33IL2110FANCL5714BMPR1A14SOX8PGRMC14214FIGLA14GATA414DIAPH2LHX81414PTH2RSOHLH24314PRLRACSL640DMC126EIF2S2147SIL1XRCC442FSHR14MSH514GPR3147CNTNAP256BLM14MSH414LAMC1NBN43BMPR1B1414FMR114NOBOXLMNA1414HLA-DRB1ATG9A3414GNAS14AMHCOX1042KHDRBS142WRN14ESR114FANCG14PARP114GALT2514HARS2mTOR14MND147PCSK142UBR21914EIF2B2AMHR24214TGFBR337TNF61FOXO3PDPK127GDF922CXCL1214NANOS32AARS214FANCC1414PREPL14ERAL114BMPR214ATG7MCM814NR5A11414HSD17B414DBH19RAD51EXO128TSC228FANCM1514ERCC6OSR21454POLR3H14KITSERPINE118ZP32920RPL103HAX1POU5F14214RECQL414STAR14DAZL14ANKRD31CLPP14CYP7A11459WT1EIF2B34260TP6314PMM214BRCA1PGR-AS155LARS2114IL657AGTR2BDNF146TRIM37MEIOB2414WDR6214TWNK14H3P23PRDM11714BRCA2INSL31414FOXL214XRCC6FANCA25IL2145BNC1HDX149TGFBR250MIR449BC14ORF3941IFI271430EIF2B5XPO542SYCE18SALL414XRCC242TMEM150B146ATM14PCMT1STRA83544CBX2PCCA1642NUP10714KDR11COMT58CPEB114MRPS2214PRDM9LHCGR14BMP8B14NOTCH214DCAF1714HFM11414POLG14SYCP2LSTAG342INHA14POLR2C14GJA44214FOXE1SPATA223212EIF2B4FSHB31MGME1714


Description

Primary Ovarian Insufficiency pathway

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Bibliography

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  1. Katsuya T, Horiuchi M, Minami S, Koike G, Santoro NF, Hsueh AJ, Dzau VJ; ''Genomic organization and polymorphism of human angiotensin II type 2 receptor: no evidence for its gene mutation in two families of human premature ovarian failure syndrome''; doi: 10.1016/s0303-7207(97)04011-2, 1997 PubMed Europe PMC Scholia
  2. Wang B, Suo P, Chen B, Wei Z, Yang L, Zhou S, Wang J, Cao Y, Ma X; '' Haplotype analysis of chemokine CXCL12 polymorphisms and susceptibility to premature ovarian failure in Chinese women''; doi: 10.1093/humrep/der001, 2011 PubMed Europe PMC Scholia
  3. Massad-Costa AM, da Silva ID, Affonso R, Soares JM Jr, Nunes MG, de Lima GR, Baracat EC; ''Gene analysis in patients with premature ovarian failure or gonadal dysgenesis: a preliminary study. Maturitas''; doi: 10.1016/j.maturitas.2007.04.005, 2007 PubMed Europe PMC Scholia
  4. Dang Y, Zhao S, Qin Y, Han T, Li W, Chen ZJ; ''MicroRNA-22-3p is down-regulated in the plasma of Han Chinese patients with premature ovarian failure''; doi: 10.1016/j.fertnstert.2014.12.106, 2015 PubMed Europe PMC Scholia
  5. Nelson LM, Kimzey LM, Merriam GR, Fleisher TA; ''Increased peripheral T lymphocyte activation in patients with karyotypically normal spontaneous premature ovarian failure''; doi: 10.1016/s0015-0282(16)54356-8, 1991 PubMed Europe PMC Scholia
  6. Shao T, Ke H, Liu R, Zhao S, Qin Y; ''Variation analysis of theTMEM150B gene in Chinese women with premature ovarian insufficiency''; doi: 10.1016/j.rbmo.2018.12.009, 2019 PubMed Europe PMC Scholia
  7. Eskenazi S, Bachelot A, Hugon-Rodin J, Plu-Bureau G, Gompel A, Catteau-Jonard S, Molina-Gomes D, Dewailly D, Dodé C, Christin-Maitre S, Touraine P; ''Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency''; doi: 10.1210/jendso/bvab032. PMID: 34095689, 2021 PubMed Europe PMC Scholia
  8. Rah H, Jeon YJ, Lee BE, Kim JO, Shim SH, Lee WS, Choi DH, Kim JH, Kim NK; ''Association of polymorphisms in microRNA machinery genes (DROSHA, DICER1, RAN, and XPO5) with risk of idiopathic primary ovarian insufficiency in Korean women''; DOI: 10.1097/GME.0b013e3182883907, 2013 PubMed Europe PMC Scholia
  9. Okten G, Gunes S, Onat OE, Tukun A, Ozcelik T, Kocak I; ''Disruption of HDX gene in premature ovarian failure''; doi: 10.3109/19396368.2013.769028, 2013 PubMed Europe PMC Scholia
  10. Pyun JA, Kang H, Kim J, Cha DH, Kwack K; ''Thyroglobulin gene is associated with premature ovarian failure''; doi: 10.1016/j.fertnstert.2010.08.038, 2011 PubMed Europe PMC Scholia
  11. Rah H, Jeon YJ, Choi Y, Shim SH, Ko JJ, Yoon TK, Cha SH, Kim NK; ''Association between kinase insert domain-containing receptor polymorphisms (-604T>C, 1192G>A, 1719A>T) and premature ovarian failure in Korean women''; doi: 10.1097/gme.0b013e318248f2e8, 2012 PubMed Europe PMC Scholia
  12. Caburet S, Todeschini AL, Petrillo C, Martini E, Farran ND, Legois B, Livera G, Younis JS, Shalev S, Veitia RA; ''A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks''; doi: 10.1016/j.ebiom.2019.03.075, 2019 PubMed Europe PMC Scholia
  13. Watkins WJ, Umbers AJ, Woad KJ, Harris SE, Winship IM, Gersak K, Shelling AN; ''Mutational screening of FOXO3A and FOXO1A in women with premature ovarian failure''; doi: 10.1016/j.fertnstert.2006.03.054, 2006 PubMed Europe PMC Scholia
  14. França MM, Mendonca BB; ''Genetics of ovarian insufficiency and defects of folliculogenesis''; doi: 10.1016/j.beem.2021.101594, 2022 PubMed Europe PMC Scholia
  15. Xu B, Li Z, Li S, Ke H, Zhang Q, Qin Y, Guo T; ''Pathogenic variants in TSC2 might cause premature ovarian insufficiency through activated mTOR induced hyperactivation of primordial follicles''; doi: 10.1016/j.fertnstert.2022.08.853, 2022 PubMed Europe PMC Scholia
  16. Bouazzi L, Sproll P, Eid W, Biason-Lauber A; ''The transcriptional regulator CBX2 and ovarian function: A whole genome and whole transcriptome approach''; doi: 10.1038/s41598-019-53370-4, 2019 PubMed Europe PMC Scholia
  17. Thanatsis N, Kaponis A, Koika V, Georgopoulos NA, Decavalas GO; ''Reduced Foxo3a, FoxL2, and p27 mRNA expression in human ovarian tissue in premature ovarian insufficiency''; doi: 10.1007/s42000-019-00134-4, 2019 PubMed Europe PMC Scholia
  18. Bouilly J, Roucher-Boulez F, Gompel A, Bry-Gauillard H, Azibi K, Beldjord C, Dodé C, Bouligand J, Mantel AG, Hécart AC, Delemer B, Young J, Binart N; ''New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression''; doi: 10.1210/jc.2014-2761, 2015 PubMed Europe PMC Scholia
  19. Pyun JA, Kim S, Cha DH, Kwack K; ''Epistasis between polymorphisms in PCSK1 and DBH is associated with premature ovarian failure''; doi: 10.1097/GME.0000000000000226, 2014 PubMed Europe PMC Scholia
  20. Ke H, Tang S, Guo T, Hou D, Jiao X, Li S, Luo W, Xu B, Zhao S, Li G, Zhang X, Xu S, Wang L, Wu Y, Wang J, Zhang F, Qin Y, Jin L, Chen ZJ; ''Landscape of pathogenic mutations in premature ovarian insufficiency''; doi: 10.1038/s41591-022-02194-3, 2023 PubMed Europe PMC Scholia
  21. Espeche LD, Chiauzzi V, Ferder I, Arrar M, Solari AP, Bruque CD, Delea M, Belli S, Fernández CS, Buzzalino ND, Charreau EH, Dain LB; ''Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency''; doi: 10.3390/genes8080194, 2017 PubMed Europe PMC Scholia
  22. Oral E, Toksoy G, Sofiyeva N, Celik HG, Karaman B, Basaran S, Azami A, Uyguner ZO; ''Clinical and Genetic Investigation of Premature Ovarian Insufficiency Cases from Turkey''; doi: 10.1016/j.jogoh.2019.04.007, 2019 PubMed Europe PMC Scholia
  23. Yu-Rice Y, Edassery SL, Urban N, Hellstrom I, Hellstrom KE, Deng Y, Li Y, Luborsky JL; ''Selenium-Binding Protein 1 (SBP1) autoantibodies in ovarian disorders and ovarian cancer''; doi: 10.1530/REP-16-0265, 2017 PubMed Europe PMC Scholia
  24. Karlberg S, Tiitinen A, Alfthan H, Lipsanen-Nyman M; ''Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder''; doi: 10.1093/humrep/dey103, 2018 PubMed Europe PMC Scholia
  25. Dang Y, Wang X, Hao Y, Zhang X, Zhao S, Ma J, Qin Y, Chen ZJ; ''MicroRNA-379-5p is associate with biochemical premature ovarian insufficiency through PARP1 and XRCC6''; doi: 10.1038/s41419-017-0163-8, 2018 PubMed Europe PMC Scholia
  26. Kang H, Lee SK, Kim MH, Choi H, Lee SH, Kwack K; ''Acyl-CoA synthetase long-chain family member 6 is associated with premature ovarian failure''; doi: 10.1016/j.fertnstert.2008.03.035, 2009 PubMed Europe PMC Scholia
  27. Wang B, Mu Y, Ni F, Zhou S, Wang J, Cao Y, Ma X; ''Analysis of FOXO3 mutation in 114 Chinese women with premature ovarian failure''; doi: 10.1016/j.rbmo.2010.01.008, 2010 PubMed Europe PMC Scholia
  28. Luo W, Guo T, Li G, Liu R, Zhao S, Song M, Zhang L, Wang S, Chen ZJ, Qin Y; ''Variants in Homologous Recombination Genes EXO1 and RAD51 Related with Premature Ovarian Insufficiency.''; doi: 10.1210/clinem/dgaa505, 2020 PubMed Europe PMC Scholia
  29. Jeon YJ, Kim YR, Lee BE, Cha SH, Moon MJ, Oh D, Lee WS, Kim NK; ''Association of five common polymorphisms in the plasminogen activator inhibitor-1 gene with primary ovarian insufficiency''; doi: 10.1016/j.fertnstert.2013.11.015, 2014 PubMed Europe PMC Scholia
  30. Thanatsis N, Kaponis A, Koika V, Georgopoulos NA, Decavalas GO; ''Reduced Foxo3a, FoxL2, and p27 mRNA expression in human ovarian tissue in premature ovarian insufficiency''; doi: 10.1007/s42000-019-00134-4, 2019 PubMed Europe PMC Scholia
  31. Heddar A, Ogur C, Da Costa S, Braham I, Billaud-Rist L, Findikli N, Beneteau C, Reynaud R, Mahmoud K, Legrand S, Marchand M, Cedrin-Durnerin I, Cantalloube A, Peigne M, Bretault M, Dagher-Hayeck B, Perol S, Droumaguet C, Cavkaytar S, Nicolas-Bonne C, Elloumi H, Khrouf M, Rougier-LeMasle C, Fradin M, Le Boette E, Luigi P, Guerrot AM, Ginglinger E, Zampa A, Fauconnier A, Auger N, Paris F, Brischoux-Boucher E, Cabrol C, Brun A, Guyon L, Berard M, Riviere A, Gruchy N, Odent S, Gilbert-Dussardier B, Isidor B, Piard J, Lambert L, Hamamah S, Guedj AM, Brac de la Perriere A, Fernandez H, Raffin-Sanson ML, Polak M, Letur H, Epelboin S, Plu-Bureau G, Wołczyński S, Hieronimus S, Aittomaki K, Catteau-Jonard S, Misrahi M; ''Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine''; doi: 10.1016/j.ebiom.2022.104246, 2022 PubMed Europe PMC Scholia
  32. Qin CR, Yao JL, Zhu WJ, Wu WQ, Xie JS; ''FOXE1 polyalanine tract length screening by MLPA in idiopathic premature ovarian failure''; doi: 10.1186/1477-7827-9-158, 2011 PubMed Europe PMC Scholia
  33. Bai X, Wang S; ''Signaling pathway intervention in premature ovarian failure''; doi: 10.3389/fmed.2022.999440, 2022 PubMed Europe PMC Scholia
  34. Arif S, Underhill JA, Donaldson P, Conway GS, Peakman M; ''Human leukocyte antigen-DQB1* genotypes encoding aspartate at position 57 are associated with 3beta-hydroxysteroid dehydrogenase autoimmunity in premature ovarian failure''; doi: 10.1210/jcem.84.3.5556, 1999 PubMed Europe PMC Scholia
  35. Pyun JA, Kang H, Lee SK, Kim MH, Kwack K; ''Association between polymorphisms in the protein L-isoaspartate (D-aspartate) O-methyltransferase gene and premature ovarian failure''; doi: 10.1016/j.fertnstert.2008.03.078, 2009 PubMed Europe PMC Scholia
  36. Kang H, Lee SK, Cho SW, Lee SH, Kwack K; ''Branched chain alpha-keto acid dehydrogenase, E1-beta subunit gene is associated with premature ovarian failure''; doi: 10.1016/j.fertnstert.2007.03.063, 2008 PubMed Europe PMC Scholia
  37. Qin CR, Chen SL, Yao JL, Li T, Wu WQ; ''Haplotype and mutation analysis of the TGFBR3 gene in Chinese women with idiopathic premature ovarian failure''; doi: 10.3109/09513590.2011.583954, 2012 PubMed Europe PMC Scholia
  38. Li B, Hu X, Yang Y, Zhu M, Zhang J, Wang Y, Pei X, Zhou H, Wu J; ''GAS5/miR-21 Axis as a Potential Target to Rescue ZCL-082-Induced Autophagy of Female Germline Stem Cells In Vitro''; doi: 10.1016/j.omtn.2019.06.012, 2019 PubMed Europe PMC Scholia
  39. Pyun JA, Kim S, Cha DH, Kwack K; ''Epistasis between polymorphisms in TSHB and ADAMTS16 is associated with premature ovarian failure''; doi: 10.1097/GME.0000000000000172, 2014 PubMed Europe PMC Scholia
  40. Bachelot A, Bouilly J, Liu Y, Rebourcet D, Leux C, Kuttenn F, Touraine P, Binart N; ''Sequence variation analysis of the prolactin receptor C-terminal region in women with premature ovarian failure''; doi: 10.1016/j.fertnstert.2010.06.040, 2010 PubMed Europe PMC Scholia
  41. Pan H, Chen B, Wang J, Wang X, Hu P, Wu S, Liu Y, Xu Z, Zhang W, Wang B, Cao Y; ''The miR-449b polymorphism, rs10061133 A>G, is associated with premature ovarian insufficiency. Menopause''; doi: 10.1097/GME.0000000000000659, 2016 PubMed Europe PMC Scholia
  42. Heddar A, Ogur C, Da Costa S, Braham I, Billaud-Rist L, Findikli N, Beneteau C, Reynaud R, Mahmoud K, Legrand S, Marchand M, Cedrin-Durnerin I, Cantalloube A, Peigne M, Bretault M, Dagher-Hayeck B, Perol S, Droumaguet, Cavkaytar S, Nicolas-Bonne C, lloumi H, Khrouf M, Rougier-LeMasle C, Fradin M, Le Boette E, Luigi P, Guerrot AM, Ginglinger E, Zampa A, Fauconnier A, Auger N, Paris F, Brischoux-Boucher E, Cabrol C, Brun A, Guyon L, Berard M, Riviere A, Gruchy N, Odent S, Gilbert-Dussardier B, Isidor B, Piard J, Lambert L, Hamamah S, Guedj AM, Brac de la Perriere A, Fernandez H, Raffin-Sanson ML, Polak M, Letur H, Epelboin S, Plu-Bureau G, Wołczyński S, Hieronimus S, Aittomaki K, Catteau-Jonard S, Misrahi M.; ''Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine''; doi: 10.1016/j.ebiom.2022.104246, 2022 PubMed Europe PMC Scholia
  43. Pyun JA, Cha DH, Kwack K; ''LAMC1 gene is associated with premature ovarian failure''; doi: 10.1016/j.maturitas.2012.01.011, 2012 PubMed Europe PMC Scholia
  44. Zhou Y, Qin Y, Qin Y, Xu B, Guo T, Ke H, Chen M, Zhang L, Han F, Li Y, Chen M, Behrens A, Wang Y, Xu Z, Chen ZJ, Gao F; ''Wdr62 is involved in female meiotic initiation via activating JNK signaling and associated with POI in humans''; doi: 10.1371/journal.pgen.1007463, 2018 PubMed Europe PMC Scholia
  45. Rehnitz J, Messmer B, Bender U, Nguyen XP, Germeyer A, Hinderhofer K, Strowitzki T, Capp E; ''Activation of AKT/mammalian target of rapamycin signaling in the peripheral blood of women with premature ovarian insufficiency and its correlation with FMR1 expression''; doi: 10.1186/s12958-022-00919-0, 2022 PubMed Europe PMC Scholia
  46. Czyzyk A, Filipowicz D, Podfigurna A, Ptas P, Piestrzynska M, Smolarczyk R, Genazzani AR, Meczekalski B; ''Brain-derived neurotrophic factor (BDNF) plasma concentration in patients diagnosed with premature ovarian insufficiency (POI)''; doi: 10.1080/09513590.2017.1290073, 2017 PubMed Europe PMC Scholia
  47. Guo Z, Yu Q; ''Role of mTOR Signaling in Female Reproduction''; doi: 10.3389/fendo.2019.00692, 2019 PubMed Europe PMC Scholia
  48. Chen J, Wan J, Shu W, Yang X, Xia L; ''Association of Serum Levels of Silent Information Regulator 1 with Persistent Organ Failure in Acute Pancreatitis''; doi: 10.1007/s10620-019-05647-x, 2019 PubMed Europe PMC Scholia
  49. Zhang C, Shen J, Kong S, Zhang M, Zhang Q, Zhou J, Zhen X, Kang N, Jiang Y, Ding L, Sun H, Yan G; ''MicroRNA-181a promotes follicular granulosa cell apoptosis via sphingosine-1-phosphate receptor 1 expression downregulation†''; doi: 10.1093/biolre/ioz135, 2019 PubMed Europe PMC Scholia
  50. Ma X, Chen Y, Zhao X, Chen J, Shen C, Yang S; ''Association study of TGFBR2 and miR-518 gene polymorphisms with age at natural menopause, premature ovarian failure, and early menopause among Chinese Han women''; doi: 10.1097/MD.0000000000000093, 2014 PubMed Europe PMC Scholia
  51. Pyun JA, Kim S, Kwack K; ''Epistasis between polymorphisms in ACVR2B and ADAMTS19 is associated with premature ovarian failure''; doi: 10.1097/GME.0000000000000285, 2015 PubMed Europe PMC Scholia
  52. Kosaki K, Sato S, Hasegawa T, Matsuo N, Suzuki T, Ogata T; ''Premature ovarian failure in a female with proximal symphalangism and Noggin mutation''; doi: 10.1016/j.fertnstert.2003.08.054, 2004 PubMed Europe PMC Scholia
  53. Sadat Eshaghi F, Dehghan Tezerjani M, Ghasemi N, Dehghani M; ''Association study of ESR1 rs9340799, rs2234693, and MMP2 rs243865 variants in Iranian women with premature ovarian insufficiency: A case-control study''; doi: 10.18502/ijrm.v20i10.12268, 2022 PubMed Europe PMC Scholia
  54. Laissue P, Lakhal B, Benayoun BA, Dipietromaria A, Braham R, Elghezal H, Philibert P, Saâd A, Sultan C, Fellous M, Veitia RA; ''Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2''; doi: 10.1136/jmg.2008.065086, 2009 PubMed Europe PMC Scholia
  55. Rzepka-Górska I, Tarnowski B, Chudecka-Głaz A, Górski B, Zielińska D, Tołoczko-Grabarek A; ''Premature menopause in patients with BRCA1 gene mutation''; doi: 10.1007/s10549-006-9220-1, 2006 PubMed Europe PMC Scholia
  56. Rossi E, Verri AP, Patricelli MG, Destefani V, Ricca I, Vetro A, Ciccone R, Giorda R, Toniolo D, Maraschio P, Zuffardi O; ''A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea''; doi: 10.1016/j.ejmg.2008.06.010, 2008 PubMed Europe PMC Scholia
  57. Sun S, Chen H, Zheng X, Ma C, Yue R; ''Analysis on the level of IL-6, IL-21, AMH in patients with auto-immunity premature ovarian failure and study of correlation''; doi: 10.3892/etm.2018.6592, 2018 PubMed Europe PMC Scholia
  58. Cordts EB, Santos MC, Peluso C, Kayaki EA, Bianco B, Barbosa CP, Christofolini DM; ''COMT polymorphism influences decrease of ovarian follicles and emerges as a predictive factor for premature ovarian insufficiency''; doi: 10.1186/1757-2215-7-47, 2014 PubMed Europe PMC Scholia
  59. Mansouri MR, Schuster J, Badhai J, Stattin EL, Lösel R, Wehling M, Carlsson B, Hovatta O, Karlström PO, Golovleva I, Toniolo D, Bione S, Peluso J, Dahl N; ''Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure''; doi: 10.1093/hmg/ddn274, 2008 PubMed Europe PMC Scholia
  60. Liu H, Wei X, Sha Y, Liu W, Gao H, Lin J, Li Y, Tang Y, Wang Y, Wang Y, Su Z; ''Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention''; doi: 10.1186/s13048-020-00716-6, 2020 PubMed Europe PMC Scholia
  61. Kim JH, Jeon YJ, Rah H, Lee BE, Choi DH, Lee WS, Kim NK; ''Tumor necrosis factor-alpha promoter polymorphisms are associated with idiopathic primary ovarian insufficiency in Korean women''; doi: 10.1016/j.fertnstert.2012.07.1111, 2012 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
127621view20:21, 8 November 2023LarsgwRemove punctuation from bp:ID
127536view09:28, 18 October 2023VanessaSousa
127019view09:36, 19 July 2023Ash iyerMade a datanode clickable.
126974view07:16, 11 July 2023FehrhartGraphical update
125669view16:23, 6 March 2023DeSlOntology Term : 'regulatory pathway' added !
125581view07:35, 1 March 2023EgonwFixed a UniProt identifier
125579view05:36, 1 March 2023EgonwUpdated the UniProt data sources
125569view22:56, 27 February 2023AlexanderPicoSetting all missing PublicationXref IDs to NA
125533view06:21, 26 February 2023EgonwUpdated the Ensembl data source
125523view16:11, 25 February 2023VanessaSousa
125522view15:15, 25 February 2023VanessaSousa
125477view18:41, 17 February 2023SusanOntology Term : 'primary ovarian insufficiency' added !
125407view15:53, 12 February 2023VanessaSousa
125406view15:46, 12 February 2023VanessaSousaModified description
125405view15:45, 12 February 2023VanessaSousa
125101view00:40, 23 January 2023EweitzModified title
125079view11:53, 20 January 2023VanessaSousaNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
AARS2 GeneProductENSG00000124608 (Ensembl)
ACSL6 GeneProductENSG00000164398 (Ensembl)
ACVR2B GeneProductENSG00000114739 (Ensembl)
AFF2GeneProductENSG00000155966 (Ensembl)
AGTR2 GeneProductENSG00000180772 (Ensembl)
AIRE GeneProductENSG00000160224 (Ensembl)
AKT1GeneProductENSG00000142208 (Ensembl)
AMHGeneProductENSG00000104899 (Ensembl)
AMHR2 GeneProductENSG00000135409 (Ensembl)
ANKRD31 GeneProductENSG00000145700 (Ensembl)
ANTXR1 GeneProductENSG00000169604 (Ensembl)
ATG7 GeneProductENSG00000197548 (Ensembl)
ATG9A GeneProductENSG00000198925 (Ensembl)
ATM GeneProductENSG00000149311 (Ensembl)
BCKDHB GeneProductENSG00000083123 (Ensembl)
BDNF GeneProductENSG00000176697 (Ensembl)
BLMGeneProductENSG00000197299 (Ensembl)
BMP15 GeneProductENSG00000130385 (Ensembl)
BMP8B GeneProductENSG00000116985 (Ensembl)
BMPR1A GeneProductENSG00000107779 (Ensembl)
BMPR1B GeneProductENSG00000138696 (Ensembl)
BMPR2 GeneProductENSG00000204217 (Ensembl)
BNC1 GeneProductENSG00000169594 (Ensembl)
BRCA1GeneProductENSG00000012048 (Ensembl)
BRCA2 GeneProductENSG00000139618 (Ensembl)
C14ORF39 GeneProductENSG00000179008 (Ensembl)
CAV1GeneProductENSG00000105974 (Ensembl)
CBX2 GeneProductENSG00000173894 (Ensembl)
CLPP GeneProductENSG00000125656 (Ensembl)
CNTNAP2 GeneProductENSG00000174469 (Ensembl)
COMT GeneProductENSG00000093010 (Ensembl)
COX10 GeneProductENSG00000006695 (Ensembl)
CPEB1 GeneProductENSG00000214575 (Ensembl)
CXCL12 GeneProductENSG00000107562 (Ensembl)
CYP17A1 GeneProductENSG00000148795 (Ensembl)
CYP19A1 GeneProductENSG00000137869 (Ensembl)
CYP7A1 GeneProductENSG00000167910 (Ensembl)
DAZL GeneProductENSG00000092345 (Ensembl)
DBH GeneProductENSG00000123454 (Ensembl)
DCAF17GeneProductENSG00000115827 (Ensembl)
DIAPH2 GeneProductENSG00000147202 (Ensembl)
DMC1 GeneProductENSG00000100206 (Ensembl)
EIF2B2 GeneProductENSG00000119718 (Ensembl)
EIF2B3 GeneProductENSG00000070785 (Ensembl)
EIF2B4 GeneProductENSG00000115211 (Ensembl)
EIF2B5 GeneProductENSG00000145191 (Ensembl)
EIF2S2 GeneProductENSG00000125977 (Ensembl)
EIF4ENIF1 GeneProductENSG00000184708 (Ensembl)
ERAL1 GeneProductENSG00000132591 (Ensembl)
ERCC6 GeneProductENSG00000225830 (Ensembl)
ESR1 GeneProductENSG00000091831 (Ensembl)
ESR2 GeneProductENSG00000140009 (Ensembl)
EXO1GeneProductENSG00000174371 (Ensembl)
FANCA GeneProductENSG00000187741 (Ensembl)
FANCC GeneProductENSG00000158169 (Ensembl)
FANCG GeneProductENSG00000221829 (Ensembl)
FANCL GeneProductENSG00000115392 (Ensembl)
FANCM GeneProductENSG00000187790 (Ensembl)
FIGLA GeneProductENSG00000183733 (Ensembl)
FMR1 GeneProductENSG00000102081 (Ensembl)
FOXE1GeneProductENSG00000178919 (Ensembl)
FOXL2 GeneProductENSG00000183770 (Ensembl)
FOXO1 GeneProductENSG00000150907 (Ensembl)
FOXO3 GeneProductENSG00000118689 (Ensembl)
FSHB GeneProductENSG00000131808 (Ensembl)
FSHR GeneProductENSG00000170820 (Ensembl)
GALT GeneProductENSG00000213930 (Ensembl)
GAS5 GeneProductENSG00000234741 (Ensembl)
GATA4 GeneProductENSG00000136574 (Ensembl)
GDF9 GeneProductENSG00000164404 (Ensembl)
GJA4 GeneProductENSG00000187513 (Ensembl)
GNAS GeneProductENSG00000087460 (Ensembl)
GPR3 GeneProductENSG00000181773 (Ensembl)
H3P23 GeneProductENSG00000250705 (Ensembl)
HARS2 GeneProductENSG00000112855 (Ensembl)
HAX1 GeneProductENSG00000143575 (Ensembl)
HDX GeneProductENSG00000165259 (Ensembl)
HELQ GeneProductENSG00000163312 (Ensembl)
HFM1 GeneProductENSG00000162669 (Ensembl)
HLA-DRB1 GeneProductENSG00000196126 (Ensembl)
HSD17B4 GeneProductENSG00000133835 (Ensembl)
HSF2BP GeneProductENSG00000160207 (Ensembl)
IFI27 GeneProductENSG00000165949 (Ensembl)
IL21 GeneProductENSG00000138684 (Ensembl)
IL2GeneProductENSG00000109471 (Ensembl)
IL6 GeneProductENSG00000136244 (Ensembl)
INHAGeneProductENSG00000123999 (Ensembl)
INSL3GeneProductENSG00000248099 (Ensembl)
KDR GeneProductENSG00000128052 (Ensembl)
KHDRBS1 GeneProductENSG00000121774 (Ensembl)
KIT GeneProductENSG00000157404 (Ensembl)
LAMC1 GeneProductENSG00000135862 (Ensembl)
LARS2 GeneProductENSG00000011376 (Ensembl)
LHCGR GeneProductENSG00000138039 (Ensembl)
LHX8 GeneProductENSG00000162624 (Ensembl)
LMNA GeneProductENSG00000160789 (Ensembl)
MCM8 GeneProductENSG00000125885 (Ensembl)
MCM9 GeneProductENSG00000111877 (Ensembl)
MEIOB GeneProductENSG00000162039 (Ensembl)
MGME1 GeneProductENSG00000125871 (Ensembl)
MIR22 GeneProductENSG00000283824 (Ensembl)
MIR449B GeneProductENSG00000207728 (Ensembl)
MMP2 GeneProductENSG00000087245 (Ensembl)
MND1 GeneProductENSG00000121211 (Ensembl)
MRPS22 GeneProductENSG00000175110 (Ensembl)
MSH4 GeneProductENSG00000057468 (Ensembl)
MSH5 GeneProductENSG00000204410 (Ensembl)
NANOS3 GeneProductENSG00000187556 (Ensembl)
NBN GeneProductENSG00000104320 (Ensembl)
NOBOX GeneProductENSG00000106410 (Ensembl)
NOG GeneProductENSG00000183691 (Ensembl)
NOTCH2 GeneProductENSG00000134250 (Ensembl)
NR5A1 GeneProductENSG00000136931 (Ensembl)
NUP107 GeneProductENSG00000111581 (Ensembl)
OSR2GeneProductENSG00000164920 (Ensembl)
PARP1 GeneProductENSG00000143799 (Ensembl)
PCCA GeneProductENSG00000175198 (Ensembl)
PCCB GeneProductENSG00000114054 (Ensembl)
PCMT1 GeneProductENSG00000120265 (Ensembl)
PCSK1 GeneProductENSG00000175426 (Ensembl)
PDPK1 GeneProductENSG00000140992 (Ensembl)
PGR-AS1 GeneProductENSG00000282728 (Ensembl)
PGRMC1 GeneProductENSG00000101856 (Ensembl)
PMM2 GeneProductENSG00000140650 (Ensembl)
POLG GeneProductENSG00000140521 (Ensembl)
POLR2C GeneProductENSG00000102978 (Ensembl)
POLR3H GeneProductENSG00000100413 (Ensembl)
POU5F1 GeneProductENSG00000204531 (Ensembl)
PRDM1 GeneProductENSG00000057657 (Ensembl)
PRDM9 GeneProductENSG00000164256 (Ensembl)
PREPL GeneProductENSG00000138078 (Ensembl)
PRLR GeneProductENSG00000113494 (Ensembl)
PSMC3IP GeneProductENSG00000131470 (Ensembl)
PTENGeneProductENSG00000171862 (Ensembl)
PTH2R GeneProductENSG00000144407 (Ensembl)
RAD51GeneProductENSG00000051180 (Ensembl)
RCBTB1 GeneProductENSG00000136144 (Ensembl)
RECQL4 GeneProductENSG00000160957 (Ensembl)
RPL10 GeneProductENSG00000147403 (Ensembl)
S1PR1 GeneProductENSG00000170989 (Ensembl)
SALL4 GeneProductENSG00000101115 (Ensembl)
SBP1 ProteinQ13228 (Uniprot-TrEMBL)
SERPINE1 GeneProductENSG00000106366 (Ensembl)
SIL1 GeneProductENSG00000120725 (Ensembl)
SIRT1 GeneProductENSG00000096717 (Ensembl)
SOHLH1 GeneProductENSG00000165643 (Ensembl)
SOHLH2 GeneProductENSG00000120669 (Ensembl)
SOX8 GeneProductENSG00000005513 (Ensembl)
SPATA22 GeneProductENSG00000141255 (Ensembl)
SPIDR GeneProductENSG00000164808 (Ensembl)
STAG3GeneProductENSG00000066923 (Ensembl)
STAR GeneProductENSG00000147465 (Ensembl)
STRA8 ProteinQ7Z7C7 (Uniprot-TrEMBL)
SYCE1 GeneProductENSG00000171772 (Ensembl)
SYCP2L GeneProductENSG00000153157 (Ensembl)
TG GeneProductENSG00000042832 (Ensembl)
TGFBR2 GeneProductENSG00000163513 (Ensembl)
TGFBR3 GeneProductENSG00000069702 (Ensembl)
TMEM150B GeneProductENSG00000180061 (Ensembl)
TNF GeneProductENSG00000232810 (Ensembl)
TP63 GeneProductENSG00000073282 (Ensembl)
TRIM37 GeneProductENSG00000108395 (Ensembl)
TSC2 GeneProductENSG00000103197 (Ensembl)
TSHB GeneProductENSG00000134200 (Ensembl)
TWNK GeneProductENSG00000107815 (Ensembl)
UBR2 GeneProductENSG00000024048 (Ensembl)
WDR62 GeneProductENSG00000075702 (Ensembl)
WNT4 GeneProductENSG00000162552 (Ensembl)
WRN GeneProductENSG00000165392 (Ensembl)
WT1 GeneProductENSG00000184937 (Ensembl)
XPO5 GeneProductENSG00000124571 (Ensembl)
XRCC2GeneProductENSG00000196584 (Ensembl)
XRCC4 GeneProductENSG00000152422 (Ensembl)
XRCC6 GeneProductENSG00000196419 (Ensembl)
ZP3GeneProductENSG00000188372 (Ensembl)
mTORComplexENSG00000198793 (Ensembl)

Annotated Interactions

No annotated interactions

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