| Debug Stats | ### Total Build Time: 57 ms 52.751 KB CONCEPT_NAME gt=14 ms Completed: 14 ms rowSize= 412 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytesCONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 542 bytes- Skipping details on:
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Genes (41)
Species:
human : 41 | |
| Human | LHX8 | 431707 | LIM homeobox 8 | Mutations in the LHX8 exons are uncommon in Caucasian women with premature ovarian failure | | Human | NANOS3 | 342977 | nanos homolog 3 (Drosophila) | Mutations in NANOS3 exons are rare in both Chinese and Caucasian women with premature ovarian failure | | Human | H19 | 283120 | H19, imprinted maternally expressed transcript (non-protein coding) | An adolescent female had premature ovarian failure and features of BWS syndrome | | Human | NOBOX | 135935 | NOBOX oogenesis homeobox | Mutations of the homeobox region of the NOBOX gene are uncommon in Japanese patients with premature ovarian failure These findings demonstrate that NOBOX mutations can cause premature ovarian failure | | Human | NLRP5 | 126206 | NLR family, pyrin domain containing 5 | characterization of the MATER gene and its protein; this provides a basis for investigating their clinical implications in autoimmune premature ovarian failure and infertility in women | | Human | DACH2 | 117154 | dachshund homolog 2 (Drosophila) | Title:Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.|Association:Y|Conclusion:Our findings could not demonstrate any involvement of POF1B, but suggest that rare mutations in the DACH2 gene may have a role in the POF phenotype. | | Human | POF1B | 79983 | premature ovarian failure, 1B | Our findings could not demonstrate any involvement of POF1B in premature ovarian failure | | Human | BBS9 | 27241 | Bardet-Biedl syndrome 9 | PTHB1 is strongly associated with POF, and ht1 confers susceptibility to POF | | Human | SPO11 | 23626 | SPO11 meiotic protein covalently bound to DSB | Data show that there is no association between SPO11 gene mutation and premature ovarian failure | | Human | SETX | 23064 | senataxin | A patient homozygous for a novel mutation of SETX who manifested not only ataxia but also ovarian failure | | Human | DMC1 | 11144 | DNA meiotic recombinase 1 | Data show that DMC1 mutations may be one explanation for premature ovarian failure | | Human | PGRMC1 | 10857 | progesterone receptor membrane component 1 | These findings suggest that mutant or reduced levels of PGMRC1 may cause premature ovarian failure through impaired activation of the microsomal cytochrome P450 and increased apoptosis of ovarian cells | | Human | BMP15 | 9210 | bone morphogenetic protein 15 | Mutational screening of the bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) genes in a population with premature ovarian failure (POF) identified no new mutations Missense mutations in the BMP15 gene are associated with ovarian failure a BMP15 alteration,as a possible cause of ovarian failure, previously described as a mutation, is instead a polymorphism although mutations in BMP15 and GDF9 are not a major cause of ovarian insufficiency, they may be involved in premature ovarian failure | | Human | EIF2B5 | 8893 | eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa | Ovarian failure, in a subset of affected patients (ovarioleukodystrophy), associated with mutations in EIF2B2 ({606454.0001}), EIF2B4 ({606687.0005}), and EIF2B5 ({603945.0004}) | | Human | EIF2B2 | 8892 | eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa | Ovarian failure, in a subset of affected patients (ovarioleukodystrophy), associated with mutations in EIF2B2 ({606454.0001}), EIF2B4 ({606687.0005}), and EIF2B5 ({603945.0004}) | | Human | EIF2B3 | 8891 | eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa | Ovarian failure, in a subset of affected patients (ovarioleukodystrophy), associated with mutations in EIF2B2 ({606454.0001}), EIF2B4 ({606687.0005}), and EIF2B5 ({603945.0004}) | | Human | EIF2B4 | 8890 | eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa | Ovarian failure, in a subset of affected patients (ovarioleukodystrophy), associated with mutations in EIF2B2 ({606454.0001}), EIF2B4 ({606687.0005}), and EIF2B5 ({603945.0004}) | | Human | TGFBR3 | 7049 | transforming growth factor, beta receptor III | Mutational analysis of betaglycan/TGF-betaRIII in premature ovarian failure | | Human | RPL10 | 6134 | ribosomal protein L10 | Xq28 (QM gene) may be involved in ovary failure | | Human | POLG | 5428 | polymerase (DNA directed), gamma | Premature ovarian failure (in a subset of patients) POLG mutations can segregate with premaature ovarian failure and parkinsonism and demonstrates that the Y955C mutation can lead to mtDNA depletion | | Human | MSH5 | 4439 | mutS homolog 5 (E. coli) | Data show that MSH5 mutations may be one explanation for premature ovarian failure | | Human | MSH4 | 4438 | mutS homolog 4 (E. coli) | Data show that there is no association between MSH4 gene mutation and premature ovarian failure | | Human | KITLG | 4254 | KIT ligand | Mutations in the coding regions of the KITLG gene appear not to be a common cause of 46,XX spontaneous premature ovarian failure in North American women | | Human | INHBB | 3625 | inhibin, beta B | Women with POF showed low levels of inhibin A and inhibin B, but not of activin A, whereas the levels of pro-alphaC were significantly higher than in postmenopausal women Mutations in INHbetaB and INHbetaA genes are not associated with ovarian failure Ovulatory cycles were characterized by higher FSH and lower inhibin B leveels in hypergonadotropic hypogonadism or premature ovarian failure | | Human | INHBA | 3624 | inhibin, beta A | Women with POF showed low levels of inhibin A and inhibin B, but not of activin A, whereas the levels of pro-alphaC were significantly higher than in postmenopausal women |
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