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G |
Fancl |
FA complementation group L |
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ISS |
OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 |
MouseDO |
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NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
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G |
Fshr |
follicle stimulating hormone receptor |
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ISO |
DNA:point mutation:exon:A189V ClinVar Annotator: match by term: Gonadal dysgenesis, XX type | ClinVar Annotator: match by term: Ovarian dysgenesis |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:7553856 |
RGD:1601232 |
NCBI chr 6:10,952,329...11,160,288
Ensembl chr 6:5,198,825...5,406,785
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G |
Mrps22 |
mitochondrial ribosomal protein S22 |
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ISO |
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29566152 |
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NCBI chr 8:108,063,468...108,076,638
Ensembl chr 8:99,184,109...99,197,291
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G |
Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19246354 |
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NCBI chr 3:42,874,505...42,896,109
Ensembl chr 3:22,465,502...22,486,328
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Sry |
sex determining region Y |
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ISO |
ClinVar Annotator: match by term: 46,XX sex reversal 1 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr Y:465,260...465,772
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G |
Sox9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: 46,XX sex reversal 2 |
ClinVar OMIM |
PMID:21208124 PMID:22051515 |
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NCBI chr10:98,305,744...98,311,250
Ensembl chr10:97,806,485...97,811,994
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G |
Fshr |
follicle stimulating hormone receptor |
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ISO |
ClinVar Annotator: match by term: FSHR-related condition | ClinVar Annotator: match by term: Ovarian dysgenesis 1 |
OMIM ClinVar |
PMID:7553856 PMID:8855829 PMID:9020851 PMID:9769327 PMID:9851774 PMID:10022448 PMID:10551778 PMID:11754099 PMID:11889179 PMID:12571157 PMID:12915623 PMID:15249125 PMID:15579795 PMID:15886248 PMID:16084888 PMID:16864747 PMID:17826728 PMID:18159088 PMID:19172541 PMID:19400992 PMID:20087398 PMID:20237833 PMID:21752882 PMID:22401810 PMID:22414334 PMID:23419799 PMID:25741868 PMID:28492532 PMID:29157895 PMID:30691934 PMID:31830376 More...
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NCBI chr 6:10,952,329...11,160,288
Ensembl chr 6:5,198,825...5,406,785
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G |
Zswim7 |
zinc finger, SWIM-type containing 7 |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 10 |
OMIM ClinVar |
PMID:25741868 PMID:32719396 PMID:33713115 PMID:34402903 |
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NCBI chr10:47,456,843...47,469,084
Ensembl chr10:46,957,525...46,969,671
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G |
Hrob |
homologous recombination factor with OB-fold |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 11 |
OMIM ClinVar |
PMID:34707299 PMID:38105698 |
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NCBI chr10:87,705,846...87,722,635
Ensembl chr10:87,206,049...87,222,483
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G |
Bmp15 |
bone morphogenetic protein 15 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ovarian dysgenesis 2 | ClinVar Annotator: match by term: Premature ovarian failure 4 |
OMIM CTD ClinVar |
PMID:15136966 PMID:16464940 PMID:16508750 PMID:16645022 PMID:18614612 PMID:19263482 PMID:20364024 PMID:20547206 PMID:25741868 PMID:28492532 PMID:31957178 More...
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NCBI chr X:18,840,943...18,846,006
Ensembl chr X:16,169,123...16,174,187
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G |
Mlx |
MAX dimerization protein MLX |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 3 |
ClinVar |
PMID:31042289 |
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NCBI chr10:86,519,517...86,524,607
Ensembl chr10:86,019,588...86,032,350
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G |
Nrxn1 |
neurexin 1 |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:8,931,360...10,077,381
Ensembl chr 6:3,177,897...4,322,710
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G |
Psmc3ip |
PSMC3 interacting protein |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 3 | ClinVar Annotator: match by term: PSMC3IP-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31042289 |
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NCBI chr10:86,524,546...86,527,764
Ensembl chr10:86,023,950...86,027,423
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G |
Mcm9 |
minichromosome maintenance 9 homologous recombination repair factor |
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ISO |
ClinVar Annotator: match by term: MCM9-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4 |
OMIM ClinVar |
PMID:25480036 PMID:25741868 PMID:26771056 PMID:28492532 PMID:31042289 |
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NCBI chr20:33,369,325...33,472,243
Ensembl chr20:32,844,951...32,929,600
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G |
Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 5 |
OMIM ClinVar |
PMID:17301727 PMID:20506135 PMID:25741868 PMID:25774885 PMID:28492532 PMID:28718531 More...
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NCBI chr 3:29,061,267...29,065,588
Ensembl chr 3:8,663,318...8,667,388
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G |
Nup107 |
nucleoporin 107 |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 6 |
OMIM ClinVar |
PMID:25741868 PMID:26485283 PMID:28492532 PMID:34707299 |
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NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
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G |
Mrps22 |
mitochondrial ribosomal protein S22 |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 7 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29566152 PMID:31042289 |
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NCBI chr 8:108,063,468...108,076,638
Ensembl chr 8:99,184,109...99,197,291
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G |
Esr2 |
estrogen receptor 2 |
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ISO |
ClinVar Annotator: match by term: ESR2-related condition | ClinVar Annotator: match by term: Ovarian dysgenesis 8 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30113650 |
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NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919
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G |
Spidr |
scaffold protein involved in DNA repair |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 9 |
OMIM ClinVar |
PMID:25741868 PMID:27967308 PMID:34697795 |
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NCBI chr11:84,766,593...85,007,597
Ensembl chr11:84,766,593...85,007,600
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G |
Clpp |
caseinolytic mitochondrial matrix peptidase proteolytic subunit |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
PMID:30311386 |
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NCBI chr 9:1,917,305...1,924,706
Ensembl chr 9:1,830,311...1,837,693
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G |
Dap3 |
death associated protein 3 |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
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NCBI chr 2:176,617,151...176,645,293
Ensembl chr 2:174,318,983...174,346,461
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
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G |
Fshr |
follicle stimulating hormone receptor |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:10,952,329...11,160,288
Ensembl chr 6:5,198,825...5,406,785
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G |
Gon4l |
gon-4 like |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
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NCBI chr 2:176,531,274...176,604,446
Ensembl chr 2:174,233,461...174,306,634
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G |
Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness | ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 |
OMIM CTD ClinVar |
PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 PMID:10497229 PMID:11810648 PMID:15216544 PMID:16385454 PMID:17576681 PMID:20673864 PMID:22864515 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:25526675 PMID:25741868 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27124789 PMID:27528516 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28649525 PMID:28708278 PMID:28830375 PMID:28973083 PMID:30396834 PMID:30561787 PMID:31230720 PMID:31455392 PMID:32747562 PMID:32904102 PMID:33539324 PMID:34534157 PMID:34645488 PMID:34719423 PMID:34732400 PMID:34906502 More...
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NCBI chr18:45,515,427...45,604,467
Ensembl chr18:43,328,824...43,417,952
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G |
Mrpl49 |
mitochondrial ribosomal protein L49 |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
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NCBI chr 1:212,775,357...212,779,364
Ensembl chr 1:203,332,481...203,350,049
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G |
Prorp |
protein only RNase P catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
PMID:34715011 PMID:37558808 |
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NCBI chr 6:78,404,821...78,497,562
Ensembl chr 6:72,670,847...72,762,416
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