Difference between revisions of "Template talk:Female Infertility Genes table 1"

From Embryology
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==Version 3 with Locations==
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==Version 2 with Links==
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{|
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|+ '''Selected Female Infertility Genes '''
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|-bgcolor="CEDFF2"
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! Gene abbreviation
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! Name
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! Online Mendelian<br>Inheritance in Man ([https://www.omim.org OMIM])
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! HUGO Gene Nomenclature<br>Committee ([https://www.genenames.org HGNC])
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! GeneCards ([https://www.genecards.org GCID])
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! Diagnosis
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|-
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| BMP15 || Bone morphogenetic protein 15 || [https://www.omim.org/entry/300247 300247] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:1068 1068] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC0XP050910 GC0XP050910] || Primary ovarian insufficiency
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|-
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| CLPP || Caseinolytic mitochondrial matrix peptidase proteolytic subunit || [https://www.omim.org/entry/601119 601119] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:2084 2084] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC19P006369 GC19P006369] || Primary ovarian insufficiency
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|-
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| EIF2B2 || Eukaryotic translation initiation factor 2B subunit beta || [https://www.omim.org/entry/606454 606454] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:3258 3258] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC14P075002 GC14P075002] || Primary ovarian insufficiency
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|-
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| FIGLA || Folliculogenesis-specific BHLH transcription factor || [https://www.omim.org/entry/608697 608697] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:24669 24669] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC02M070741 GC02M070741] || Primary ovarian insufficiency
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|-
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| FMR1 || Fragile X mental retardation 1 || [https://www.omim.org/entry/309550 309550] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:3775 3775] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC0XP147912 GC0XP147912] || Primary ovarian insufficiency
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|-
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| FOXL2 || Forkhead box L2 || [https://www.omim.org/entry/605597 605597] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:1092 1092] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC03M138944 GC03M138944] || Primary ovarian insufficiency
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|-
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| FSHR || Follicle stimulating hormone receptor || [https://www.omim.org/entry/136435 136435] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:3969 3969] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC02M048866 GC02M048866] || Primary ovarian insufficiency
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|-
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| GALT || Galactose-1-phosphate uridylyltransferase || [https://www.omim.org/entry/606999 606999] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:4135 4135] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC09P034636 GC09P034636] || Primary ovarian insufficiency
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|-
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| GFD9 || Growth differentiation factor 9 || [https://www.omim.org/entry/601918 601918] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:4224 4224] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC05M132861 GC05M132861] || Primary ovarian insufficiency
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|-
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| HARS2 || Histidyl-TRNA synthetase 2, mitochondrial || [https://www.omim.org/entry/600783 600783] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:4817 4817] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC05P141975 GC05P141975] || Primary ovarian insufficiency
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|-
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| HFM1 || HFM1, ATP-dependent DNA helicase homolog || [https://www.omim.org/entry/615684 615684] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:20193 20193] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC01M091260 GC01M091260] || Primary ovarian insufficiency
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|-
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| HSD17B4 || Hydroxysteroid 17-beta dehydrogenase 4 || [https://www.omim.org/entry/601860 601860] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:5213 5213] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC05P119452 GC05P119452] || Primary ovarian insufficiency
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|-
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| LARS2 || Leucyl-TRNA synthetase 2, mitochondrial || [https://www.omim.org/entry/604544 604544] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:17095 17095] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC03P045405 GC03P045405] || Primary ovarian insufficiency
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|-
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| LHCGR || Luteinizing hormone/choriogonadotropin receptor || [https://www.omim.org/entry/152790 152790] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:6585 6585] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC02M048647 GC02M048647] || Primary ovarian insufficiency
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|-
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| LHX8 || LIM homeobox 8 || [https://www.omim.org/entry/604425 604425] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:28838 28838] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC01P075128 GC01P075128] || Primary ovarian insufficiency
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|-
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| MCM8 || Minichromosome maintenance 8 homologous recombination repair factor || [https://www.omim.org/entry/608187 608187] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:16147 16147] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC20P005926 GC20P005926] || Primary ovarian insufficiency
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|-
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| MCM9 || Minichromosome maintenance 9 homologous recombination repair factor || [https://www.omim.org/entry/610098 610098] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:21484 21484] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC06M118813 GC06M118813] || Primary ovarian insufficiency
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|-
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| NOBOX || NOBOX oogenesis homeobox || [https://www.omim.org/entry/610934 610934] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:22448 22448] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC07M144397 GC07M144397] || Primary ovarian insufficiency
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|-
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| NOG || Noggin || [https://www.omim.org/entry/602991 602991] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:7866 7866] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC17P056593 GC17P056593] || Primary ovarian insufficiency
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|-
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| PMM2 || Phosphomannomutase 2 || [https://www.omim.org/entry/601785 601785] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:9115 9115] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC16P008788 GC16P008788] || Primary ovarian insufficiency
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|-
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| POLG || DNA polymerase gamma, catalytic subunit || [https://www.omim.org/entry/174763 174763] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:9179 9179] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC15M089316 GC15M089316] || Primary ovarian insufficiency
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|-
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| REC8 || REC8 meiotic recombination protein || [https://www.omim.org/entry/608193 608193] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:16879 16879] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC14P024171 GC14P024171] || Primary ovarian insufficiency
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|-
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| SMC1B || Structural maintenance of chromosomes 1B || [https://www.omim.org/entry/608685 608685] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:11112 11112] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC22M045344 GC22M045344] || Primary ovarian insufficiency
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|-
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| SOHLH1 || Spermatogenesis and oogenesis-specific basic helix–loop–helix 1 || [https://www.omim.org/entry/610224 610224] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:27845 27845] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC09M135693 GC09M135693] || Primary ovarian insufficiency
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|-
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| STAG3 || Stromal antigen 3 || [https://www.omim.org/entry/608489 608489] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:11356 11356] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC07P100177 GC07P100177] || Primary ovarian insufficiency
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|-
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| SYCE1 || Synaptonemal Complex Central Element Protein 1 || [https://www.omim.org/entry/611486 611486] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:28852 28852] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC10M133553 GC10M133553] || Primary ovarian insufficiency
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|-
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| TLE6 || Transducin-like enhancer of split 6 || [https://www.omim.org/entry/612399 612399] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:30788 30788] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC19P002976 GC19P002976] || Embryonic lethalithy
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|-
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| TUBB8 || Tubulin beta 8 Class VIII || [https://www.omim.org/entry/616768 616768] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:20773 20773] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC10M000048 GC10M000048] || Oocyte maturation arrest
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|-
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| TWNK || Twinkle MtDNA helicase || [https://www.omim.org/entry/606075 606075] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:1160 1160] || [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC10P100991 GC10P100991] || Primary ovarian insufficiency
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|-
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|-bgcolor="F5FFFA"
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| Colspan=5| &nbsp;&nbsp;Table data source{{#pmid:29199274|PMID29199274}} (table 1)&nbsp;&nbsp;&nbsp;&nbsp;'''Links:''' {{Fertilization}} | {{spermatozoa}} | {{testis}} | [[Template:Male Infertility Genes table 1|Male Infertility Genes]] | [[Template:Female Infertility Genes table 1|Female Infertility Genes]] | {{oocyte}} | {{ovary}} | [[Abnormal Development - Genetic|Genetic Abnormalities]] | {{ART}}
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|}<noinclude>[[Category:Table]][[Category:Fertilization]][[Category:Spermatozoa]][[Category:Testis]][[Category:Male]]</noinclude>
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 +
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==Version 1==
 
==Version 1==
  

Revision as of 13:14, 23 October 2018

Version 3 with Locations

Version 2 with Links

Selected Female Infertility Genes
Gene abbreviation Name Online Mendelian
Inheritance in Man (OMIM)
HUGO Gene Nomenclature
Committee (HGNC)
GeneCards (GCID) Diagnosis
BMP15 Bone morphogenetic protein 15 300247 1068 GC0XP050910 Primary ovarian insufficiency
CLPP Caseinolytic mitochondrial matrix peptidase proteolytic subunit 601119 2084 GC19P006369 Primary ovarian insufficiency
EIF2B2 Eukaryotic translation initiation factor 2B subunit beta 606454 3258 GC14P075002 Primary ovarian insufficiency
FIGLA Folliculogenesis-specific BHLH transcription factor 608697 24669 GC02M070741 Primary ovarian insufficiency
FMR1 Fragile X mental retardation 1 309550 3775 GC0XP147912 Primary ovarian insufficiency
FOXL2 Forkhead box L2 605597 1092 GC03M138944 Primary ovarian insufficiency
FSHR Follicle stimulating hormone receptor 136435 3969 GC02M048866 Primary ovarian insufficiency
GALT Galactose-1-phosphate uridylyltransferase 606999 4135 GC09P034636 Primary ovarian insufficiency
GFD9 Growth differentiation factor 9 601918 4224 GC05M132861 Primary ovarian insufficiency
HARS2 Histidyl-TRNA synthetase 2, mitochondrial 600783 4817 GC05P141975 Primary ovarian insufficiency
HFM1 HFM1, ATP-dependent DNA helicase homolog 615684 20193 GC01M091260 Primary ovarian insufficiency
HSD17B4 Hydroxysteroid 17-beta dehydrogenase 4 601860 5213 GC05P119452 Primary ovarian insufficiency
LARS2 Leucyl-TRNA synthetase 2, mitochondrial 604544 17095 GC03P045405 Primary ovarian insufficiency
LHCGR Luteinizing hormone/choriogonadotropin receptor 152790 6585 GC02M048647 Primary ovarian insufficiency
LHX8 LIM homeobox 8 604425 28838 GC01P075128 Primary ovarian insufficiency
MCM8 Minichromosome maintenance 8 homologous recombination repair factor 608187 16147 GC20P005926 Primary ovarian insufficiency
MCM9 Minichromosome maintenance 9 homologous recombination repair factor 610098 21484 GC06M118813 Primary ovarian insufficiency
NOBOX NOBOX oogenesis homeobox 610934 22448 GC07M144397 Primary ovarian insufficiency
NOG Noggin 602991 7866 GC17P056593 Primary ovarian insufficiency
PMM2 Phosphomannomutase 2 601785 9115 GC16P008788 Primary ovarian insufficiency
POLG DNA polymerase gamma, catalytic subunit 174763 9179 GC15M089316 Primary ovarian insufficiency
REC8 REC8 meiotic recombination protein 608193 16879 GC14P024171 Primary ovarian insufficiency
SMC1B Structural maintenance of chromosomes 1B 608685 11112 GC22M045344 Primary ovarian insufficiency
SOHLH1 Spermatogenesis and oogenesis-specific basic helix–loop–helix 1 610224 27845 GC09M135693 Primary ovarian insufficiency
STAG3 Stromal antigen 3 608489 11356 GC07P100177 Primary ovarian insufficiency
SYCE1 Synaptonemal Complex Central Element Protein 1 611486 28852 GC10M133553 Primary ovarian insufficiency
TLE6 Transducin-like enhancer of split 6 612399 30788 GC19P002976 Embryonic lethalithy
TUBB8 Tubulin beta 8 Class VIII 616768 20773 GC10M000048 Oocyte maturation arrest
TWNK Twinkle MtDNA helicase 606075 1160 GC10P100991 Primary ovarian insufficiency
  Table data source[1] (table 1)    Links: fertilization | spermatozoa | testis | Male Infertility Genes | Female Infertility Genes | oocyte | ovary | Genetic Abnormalities | ART


Version 1

Selected genes in Female Infertility
Gene abbreviation Name OMIM HGNC GCID Diagnosis
BMP15 Bone morphogenetic protein 15 300247 1068 GC0XP050910 Primary ovarian insufficiency
CLPP Caseinolytic mitochondrial matrix peptidase proteolytic subunit 601119 2084 GC19P006369 Primary ovarian insufficiency
EIF2B2 Eukaryotic translation initiation factor 2B subunit beta 606454 3258 GC14P075002 Primary ovarian insufficiency
FIGLA Folliculogenesis-specific BHLH transcription factor 608697 24669 GC02M070741 Primary ovarian insufficiency
FMR1 Fragile X mental retardation 1 309550 3775 GC0XP147912 Primary ovarian insufficiency
FOXL2 Forkhead box L2 605597 1092 GC03M138944 Primary ovarian insufficiency
FSHR Follicle stimulating hormone receptor 136435 3969 GC02M048866 Primary ovarian insufficiency
GALT Galactose-1-phosphate uridylyltransferase 606999 4135 GC09P034636 Primary ovarian insufficiency
GFD9 Growth differentiation factor 9 601918 4224 GC05M132861 Primary ovarian insufficiency
HARS2 Histidyl-TRNA synthetase 2, mitochondrial 600783 4817 GC05P141975 Primary ovarian insufficiency
HFM1 HFM1, ATP-dependent DNA helicase homolog 615684 20193 GC01M091260 Primary ovarian insufficiency
HSD17B4 Hydroxysteroid 17-beta dehydrogenase 4 601860 5213 GC05P119452 Primary ovarian insufficiency
LARS2 Leucyl-TRNA synthetase 2, mitochondrial 604544 17095 GC03P045405 Primary ovarian insufficiency
LHCGR Luteinizing hormone/choriogonadotropin receptor 152790 6585 GC02M048647 Primary ovarian insufficiency
LHX8 LIM homeobox 8 604425 28838 GC01P075128 Primary ovarian insufficiency
MCM8 Minichromosome maintenance 8 homologous recombination repair factor 608187 16147 GC20P005926 Primary ovarian insufficiency
MCM9 Minichromosome maintenance 9 homologous recombination repair factor 610098 21484 GC06M118813 Primary ovarian insufficiency
NOBOX NOBOX oogenesis homeobox 610934 22448 GC07M144397 Primary ovarian insufficiency
vNOG Noggin 602991 7866 GC17P056593 Primary ovarian insufficiency
vPMM2 Phosphomannomutase 2 601785 9115 GC16P008788 Primary ovarian insufficiency
POLG DNA polymerase gamma, catalytic subunit 174763 9179 GC15M089316 Primary ovarian insufficiency
REC8 REC8 meiotic recombination protein 608193 16879 GC14P024171 Primary ovarian insufficiency
SMC1B Structural maintenance of chromosomes 1B 608685 11112 GC22M045344 Primary ovarian insufficiency
SOHLH1 Spermatogenesis and oogenesis-specific basic helix–loop–helix 1 610224 27845 GC09M135693 Primary ovarian insufficiency
STAG3 Stromal antigen 3 608489 11356 GC07P100177 Primary ovarian insufficiency
SYCE1 Synaptonemal Complex Central Element Protein 1 611486 28852 GC10M133553 Primary ovarian insufficiency
TLE6 Transducin-like enhancer of split 6 612399 30788 GC19P002976 Embryonic lethalithy
TUBB8 Tubulin beta 8 Class VIII 616768 20773 GC10M000048 Oocyte maturation arrest
TWNK Twinkle MtDNA helicase 606075 1160 GC10P100991 Primary ovarian insufficiency

[1]

  1. 1.0 1.1 Harper JC, Aittomäki K, Borry P, Cornel MC, de Wert G, Dondorp W, Geraedts J, Gianaroli L, Ketterson K, Liebaers I, Lundin K, Mertes H, Morris M, Pennings G, Sermon K, Spits C, Soini S, van Montfoort APA, Veiga A, Vermeesch JR, Viville S & Macek M. (2018). Recent developments in genetics and medically assisted reproduction: from research to clinical applications. Eur. J. Hum. Genet. , 26, 12-33. PMID: 29199274 DOI.