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Genes (13)
Species: human : 13 | |
Human | SETX | 23064 | senataxin | A patient homozygous for a novel mutation of SETX who manifested not only ataxia but also ovarian failure | Human | BMP15 | 9210 | bone morphogenetic protein 15 | a BMP15 alteration,as a possible cause of ovarian failure, previously described as a mutation, is instead a polymorphism Missense mutations in the BMP15 gene are associated with 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 | RPL10 | 6134 | ribosomal protein L10 | Xq28 (QM gene) may be involved in ovary failure | Human | POLG | 5428 | polymerase (DNA directed), gamma | POLG mutations can segregate with premaature ovarian failure and parkinsonism and demonstrates that the Y955C mutation can lead to mtDNA depletion | Human | INHBB | 3625 | inhibin, beta B | Mutations in INHbetaB and INHbetaA genes are not associated with ovarian failure | Human | INHA | 3623 | inhibin, alpha | The INHalpha gene is a strong candidate gene for ovarian failure polymorphisms in the INHA gene may have a role in ovarian failure | Human | GALT | 2592 | galactose-1-phosphate uridylyltransferase | Ovarian failure due to hypergonadotropic hypogonadism no relationship was found between ovarian failure and GALT polymorphisms in Indian women | Human | FOXO3 | 2309 | forkhead box O3 | Despite potential for FOXO3 haploinsufficiency to cause ovarian failure, FOXO3 mutations or common SNPs are not common cause of either premature ovarian failure or primary amenorrhea | Human | EIF2B1 | 1967 | eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa | Ovarian failure, in a subset of affected patients (ovarioleukodystrophy), associated with mutations in EIF2B2 ({606454.0001}), EIF2B4 ({606687.0005}), and EIF2B5 ({603945.0004}) |
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