RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Kl |
Klotho |
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ISO |
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RGD |
PMID:9363890 |
RGD:10403047 |
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
susceptibility |
ISO |
DNA:transition: ; 1192T>C, precocious puberty, OMIM:176410 |
RGD |
PMID:8929952 |
RGD:1600291 |
NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: 17,20-lyase deficiency, isolated | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial |
ClinVar |
PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 PMID:2493025 PMID:2786493 PMID:2843762 PMID:3263289 PMID:6976525 PMID:7629254 PMID:8345056 PMID:8550762 PMID:9177409 PMID:9326943 PMID:9435441 PMID:9601054 PMID:9892022 PMID:10455016 PMID:10720067 PMID:11422109 PMID:11549685 PMID:11836339 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15713706 PMID:15771555 PMID:15811924 PMID:15844475 PMID:16121340 PMID:16477341 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17192295 PMID:17379008 PMID:19508587 PMID:20197673 PMID:21340157 PMID:21340163 PMID:21846181 PMID:21966534 PMID:22087567 PMID:22309630 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:24498484 PMID:25697092 PMID:25741868 PMID:26543560 PMID:26770544 PMID:26845730 PMID:27426448 PMID:27959413 PMID:28008861 PMID:28492532 PMID:28870780 PMID:29345162 PMID:29595516 PMID:29858860 PMID:32784047 PMID:33753170 PMID:33819959 PMID:34483146 More...
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NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis |
ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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Hsd17b3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
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ISO ISS |
ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency OMIM:264300 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:598011 PMID:2918056 PMID:3066852 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9467575 PMID:9536098 PMID:9709959 PMID:9758445 PMID:10022457 PMID:10599740 PMID:11158067 PMID:12429500 PMID:16199547 PMID:17466011 PMID:17509588 PMID:17551466 PMID:17576681 PMID:19498320 PMID:21214500 PMID:22212252 PMID:22445608 PMID:23295294 PMID:23796702 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25526675 PMID:25740850 PMID:25741868 PMID:26956191 PMID:27073926 PMID:27163392 PMID:27307783 PMID:27898418 PMID:27899157 PMID:28492532 PMID:28617986 PMID:28739554 PMID:29397602 PMID:30668521 PMID:31589614 PMID:31614207 PMID:32297288 PMID:32372306 PMID:33468338 PMID:33516834 PMID:33742552 PMID:33984517 PMID:34009138 PMID:35432193 PMID:36110220 PMID:36154887 PMID:36606580 PMID:37741351 More...
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NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
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Colec11 |
collectin sub-family member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3MC syndrome 2 |
OMIM CTD ClinVar |
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 PMID:28492532 More...
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NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
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Masp1 |
MBL associated serine protease 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
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NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
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Slc26a2 |
solute carrier family 26 member 2 |
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ISO |
ClinVar Annotator: match by term: OSA syndrome |
ClinVar |
PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20525296 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 More...
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NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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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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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 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
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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 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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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 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11932321 |
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NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Tyro3 |
TYRO3 protein tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: 46,XX disorder of sex development |
ClinVar |
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NCBI chr 3:106,777,686...106,797,154
Ensembl chr 3:106,777,635...106,797,142
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Adamts16 |
ADAM metallopeptidase with thrombospondin type 1 motif, 16 |
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ISO |
ClinVar Annotator: match by term: 46,XY disorder of sex development |
ClinVar |
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NCBI chr 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494
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Amhr2 |
anti-Mullerian hormone receptor type 2 |
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ISO |
ClinVar Annotator: match by term: Male pseudohermaphroditism |
ClinVar |
PMID:25741868 |
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NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
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Chd7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: 46,XY disorder of sex development |
ClinVar |
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NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11502818 |
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NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: 46,XY disorder of sex development |
ClinVar |
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Insr |
insulin receptor |
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ISO |
ClinVar Annotator: match by term: 46,XY disorder of sex development |
ClinVar |
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NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XY disorder of sex development |
CTD ClinVar |
PMID:7719343 PMID:19887492 |
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NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Lrp2 |
LDL receptor related protein 2 |
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ISO |
ClinVar Annotator: match by term: DSD incomplete virilization |
ClinVar |
PMID:20359920 PMID:25741868 PMID:28492532 PMID:34979047 |
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NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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Nr2f2 |
nuclear receptor subfamily 2, group F, member 2 |
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ISO |
ClinVar Annotator: match by term: 46,XY disorder of sex development |
ClinVar |
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NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
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Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XY disorder of sex development |
CTD ClinVar |
PMID:17694559 PMID:20887963 PMID:25741868 PMID:25989977 PMID:26260161 PMID:27899157 PMID:28492532 PMID:29265478 PMID:30425642 PMID:31513305 More...
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NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISO |
ClinVar Annotator: match by term: 46,XY disorder of sex development |
ClinVar |
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NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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Por |
cytochrome p450 oxidoreductase |
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ISO |
ClinVar Annotator: match by term: 46,XY disorder of sex development |
ClinVar |
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NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Sox8 |
SRY-box transcription factor 8 |
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ISO |
ClinVar Annotator: match by term: 46,XY disorder of sex development |
ClinVar |
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NCBI chr10:14,584,829...14,589,818
Ensembl chr10:14,584,829...14,589,818
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Srcap |
Snf2-related CREBBP activator protein |
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ISO |
ClinVar Annotator: match by term: 46,XY disorder of sex development |
ClinVar |
PMID:28492532 |
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NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
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Sry |
sex determining region Y |
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ISO |
ClinVar Annotator: match by term: 46,XY disorder of sex development |
ClinVar |
PMID:8353496 PMID:25741868 PMID:29378242 |
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NCBI chr Y:441,525...442,037
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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:441,525...442,037
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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 chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
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ISO |
ClinVar Annotator: match by term: 46,XX sex reversal 4 |
OMIM ClinVar |
PMID:11932325 PMID:22549935 PMID:25741868 PMID:26523528 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27855412 PMID:28033660 PMID:28492532 More...
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NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Nr2f2 |
nuclear receptor subfamily 2, group F, member 2 |
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ISO |
ClinVar Annotator: match by term: 46,xx sex reversal 5 |
OMIM ClinVar |
PMID:25741868 PMID:27363585 PMID:29478779 |
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NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
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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 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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Wnt4 |
Wnt family member 4 |
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ISO |
ClinVar Annotator: match by term: SERKAL syndrome |
OMIM ClinVar |
PMID:18179883 PMID:25741868 |
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NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
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Dhh |
desert hedgehog signaling molecule |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy |
OMIM CTD ClinVar |
PMID:11017805 PMID:11891836 PMID:25927242 PMID:28589169 PMID:28708305 PMID:29471294 More...
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NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
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Ar |
androgen receptor |
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ISO |
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY |
ClinVar |
PMID:25741868 |
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NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Chd7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY |
ClinVar |
PMID:25741868 PMID:33189935 |
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NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Dhh |
desert hedgehog signaling molecule |
susceptibility |
ISO ISS |
DNA:missense mutation:exon OMIM:154230 | OMIM:233420 | OMIM:300018 | OMIM:400044 | OMIM:607080 | OMIM:612965 | OMIM:613080 | OMIM:613762 | OMIM:614279 | OMIM:616067 ClinVar Annotator: match by term: 46,XY DSD/46,XY CGD |
MouseDO ClinVar RGD |
PMID:11017805 |
RGD:1601053 |
NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
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Dmrt1 |
doublesex and mab-3 related transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY |
ClinVar |
PMID:25741868 |
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NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
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Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10369247 PMID:11932325 PMID:15070943 |
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NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Sry |
sex determining region Y |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27576690 PMID:2247151 PMID:8257986 |
RGD:1599179, RGD:1598780 |
NCBI chr Y:441,525...442,037
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Sry |
sex determining region Y |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 1 |
OMIM ClinVar |
PMID:1339396 PMID:1415266 PMID:1438307 PMID:1483689 PMID:1570829 PMID:1619028 PMID:1639410 PMID:1734522 PMID:1956279 PMID:2247149 PMID:2247151 PMID:2401216 PMID:7717397 PMID:7718558 PMID:7981695 PMID:7985018 PMID:7987333 PMID:8019555 PMID:8105086 PMID:8257986 PMID:8353496 PMID:9150734 PMID:9443877 PMID:9450909 PMID:9521592 PMID:10670762 PMID:10843173 PMID:10852465 PMID:12107262 PMID:12409269 PMID:12793612 PMID:12919143 PMID:16510537 PMID:16675314 PMID:20528776 PMID:24003159 PMID:25741868 PMID:28492532 PMID:28787711 More...
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NCBI chr Y:441,525...442,037
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Sox9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 10 |
ClinVar OMIM |
PMID:6620326 PMID:22051515 PMID:25604083 |
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NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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Nr0b1 |
nuclear receptor subfamily 0, group B, member 1 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 2 | ClinVar Annotator: match by term: 46XY sex reversal 2, dosage-sensitive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7990958 PMID:9195207 PMID:9486644 PMID:9529340 PMID:10599709 PMID:11748852 PMID:15841486 PMID:23512386 PMID:25741868 PMID:28492532 More...
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NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011
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Gata4 |
GATA binding protein 4 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED |
ClinVar |
PMID:17643447 PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 PMID:21519287 PMID:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:28492532 PMID:32992319 More...
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NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED |
OMIM ClinVar |
PMID:9536098 PMID:11932325 PMID:15070943 PMID:15472171 PMID:15579739 PMID:17200175 PMID:17576681 PMID:17694559 PMID:18414213 PMID:19246354 PMID:20887963 PMID:21691958 PMID:22028768 PMID:22474171 PMID:22549935 PMID:25122490 PMID:25326637 PMID:25741868 PMID:25989977 PMID:26523528 PMID:27169744 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27855412 PMID:27899157 PMID:28033660 PMID:28492532 PMID:29095814 PMID:29935645 PMID:30425642 PMID:31513305 PMID:31745530 PMID:31852928 PMID:32738419 PMID:33202802 PMID:33351340 PMID:35432193 PMID:35690514 PMID:35935368 PMID:36572623 More...
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NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Zfpm2 |
zinc finger protein, multitype 2 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED |
ClinVar |
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25741868 PMID:27899157 PMID:28492532 PMID:31962012 More...
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NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Dmrt1 |
doublesex and mab-3 related transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
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Cbx2 |
chromobox 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XY sex reversal 5 |
OMIM CTD ClinVar |
PMID:19361780 PMID:25741868 |
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NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
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Map3k1 |
mitogen-activated protein kinase kinase kinase 1 |
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ISO |
ClinVar Annotator: match by term: 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 6 |
OMIM ClinVar |
PMID:5419329 PMID:11242112 PMID:12476449 PMID:20301714 PMID:21129722 PMID:24135036 PMID:24497709 PMID:25326637 PMID:25383892 PMID:25741868 PMID:27899157 PMID:28492532 PMID:28504475 PMID:30608580 PMID:30872814 PMID:32985417 More...
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NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463
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Dhh |
desert hedgehog signaling molecule |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XY sex reversal 7 | ClinVar Annotator: match by term: DHH-Related 46,XY complete gonadal dysgenesis |
OMIM CTD ClinVar |
PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535 |
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NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
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Akr1c2 |
aldo-keto reductase family 1, member C2 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 8 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4352099 PMID:21802064 PMID:25741868 PMID:28106320 |
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NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
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G |
Zfpm2 |
zinc finger protein, multitype 2 |
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ISO |
ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 9 |
OMIM ClinVar |
PMID:9536098 PMID:14517948 PMID:17568391 PMID:17576681 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25107291 PMID:25741868 PMID:27899157 PMID:28166811 PMID:28492532 PMID:31962012 PMID:34008892 More...
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NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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G |
Sry |
sex determining region Y |
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ISO |
ClinVar Annotator: match by term: 46,XY true hermaphroditism, SRY-related |
ClinVar |
PMID:1483689 PMID:1570829 PMID:1734522 PMID:1956279 PMID:2247149 PMID:8257986 PMID:9450909 PMID:12793612 More...
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NCBI chr Y:441,525...442,037
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G |
Bmpr1b |
bone morphogenetic protein receptor type 1B |
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ISO |
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 PMID:26105076 PMID:28492532 PMID:35034853 More...
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NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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G |
Hsd3b2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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ISO |
ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:295036 PMID:1196451 PMID:1363812 PMID:1825279 PMID:2755580 PMID:4539073 PMID:7633460 PMID:7651769 PMID:7962268 PMID:8004103 PMID:8060486 PMID:8185809 PMID:8284113 PMID:8316254 PMID:9719627 PMID:10486704 PMID:10599696 PMID:10651755 PMID:10656999 PMID:10770215 PMID:10843183 PMID:10973654 PMID:11196452 PMID:11287026 PMID:12050213 PMID:12050224 PMID:12608938 PMID:14966389 PMID:15585552 PMID:16648810 PMID:17689071 PMID:18252794 PMID:22343390 PMID:22579964 PMID:24033266 PMID:25526675 PMID:25741868 PMID:26021573 PMID:26288759 PMID:26467025 PMID:27626911 PMID:27796263 PMID:27899157 PMID:28207417 PMID:28492532 PMID:28870780 PMID:30029738 PMID:30668521 PMID:30719691 PMID:31006099 PMID:31533357 PMID:31611844 PMID:31950145 PMID:32506065 PMID:34055358 PMID:34628416 More...
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NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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Ap4m1 |
adaptor related protein complex 4 subunit mu 1 |
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ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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G |
Larp7 |
La ribonucleoprotein 7, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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G |
Taf6 |
TATA-box binding protein associated factor 6 |
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ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome |
OMIM ClinVar |
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 |
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NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
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Dcaf17 |
DDB1 and CUL4 associated factor 17 |
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ISO |
ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia |
ClinVar |
PMID:6876115 PMID:19026396 PMID:20507343 PMID:21964978 PMID:24015686 PMID:24088041 PMID:25741868 PMID:26633545 PMID:26664771 PMID:27489925 PMID:28492532 More...
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NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820
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G |
Mettl8 |
methyltransferase 8, tRNA N3-cytidine |
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ISO |
ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia |
ClinVar |
PMID:28492532 |
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NCBI chr 3:55,731,453...55,863,652
Ensembl chr 3:55,770,167...55,863,676
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G |
Ar |
androgen receptor |
susceptibility |
ISO ISS IEP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Androgen resistance syndrome | ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency OMIM:300068 DNA:missense mutation:exon:p.M749V (human) DNA:missense mutations, repeats:exon:p.V866L, p.R607Y (human) DNA:missense mutation:exon:p.R615S (human) DNA:point mutation, repeats:exon DNA:deletion protein:altered localization:spinal cord, motor neuron, cytoplasm |
CTD OMIM ClinVar MouseDO RGD |
PMID:1158706 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1458719 PMID:1480178 PMID:1487249 PMID:1508223 PMID:1569163 PMID:1598912 PMID:1609793 PMID:1631125 PMID:1720929 PMID:1750490 PMID:1752359 PMID:1775137 PMID:1779964 PMID:2082179 PMID:2293020 PMID:2332504 PMID:2339702 PMID:2594783 PMID:3174628 PMID:3186717 PMID:3216866 PMID:4061484 PMID:7537149 PMID:7581399 PMID:7626493 PMID:7633398 PMID:7641413 PMID:7671849 PMID:7723794 PMID:7795646 PMID:7910529 PMID:7970939 PMID:7981687 PMID:7981689 PMID:8033918 PMID:8040309 PMID:8096390 PMID:8097257 PMID:8126121 PMID:8162033 PMID:8224266 PMID:8281139 PMID:8325932 PMID:8413310 PMID:8450040 PMID:8450042 PMID:8530589 PMID:8626869 PMID:8628719 PMID:8647313 PMID:8723113 PMID:8809734 PMID:8823308 PMID:8824883 PMID:8990010 PMID:9007482 PMID:9039340 PMID:9196614 PMID:9302173 PMID:9328206 PMID:9332480 PMID:9360511 PMID:9463997 PMID:9536098 PMID:9543136 PMID:9544375 PMID:9554754 PMID:9576916 PMID:9627582 PMID:9698822 PMID:9768671 PMID:9788719 PMID:9851768 PMID:9856504 PMID:9921903 PMID:10022458 PMID:10092153 PMID:10221692 PMID:10221770 PMID:10323251 PMID:10323385 PMID:10359561 PMID:10425033 PMID:10458483 PMID:10502786 PMID:10571951 PMID:10589774 PMID:10690872 PMID:10834333 PMID:10840043 PMID:10852459 PMID:10946887 PMID:11103816 PMID:11181525 PMID:11225909 PMID:11260228 PMID:11376111 PMID:11397856 PMID:11549642 PMID:11579211 PMID:11744994 PMID:11788616 PMID:11788645 PMID:11788673 PMID:11889162 PMID:12068007 PMID:12213902 PMID:12466388 PMID:12644579 PMID:12705360 PMID:12843171 PMID:13680382 PMID:14701682 PMID:14974091 PMID:15109605 PMID:15266301 PMID:15531547 PMID:15541764 PMID:15925895 PMID:15963062 PMID:16083860 PMID:16199547 PMID:16283146 PMID:16365032 PMID:16373394 PMID:16450583 PMID:16470553 PMID:16804045 PMID:17161333 PMID:17382127 PMID:17576681 PMID:17937062 PMID:17970778 PMID:18406699 PMID:18710728 PMID:19463997 PMID:20007693 PMID:20011049 PMID:20056211 PMID:20150575 PMID:20305676 PMID:20493947 PMID:20671138 PMID:21520333 PMID:21645389 PMID:21710452 PMID:21962961 PMID:22334387 PMID:22403669 PMID:22412043 PMID:22995991 PMID:23106833 PMID:23637914 PMID:23774508 PMID:23779130 PMID:24033266 PMID:24186138 PMID:24321103 PMID:24367986 PMID:24737579 PMID:24790346 PMID:25241384 PMID:25248670 PMID:25299611 PMID:25326637 PMID:25433660 PMID:25500996 PMID:25613104 PMID:25640679 PMID:25674389 PMID:25740850 PMID:25741868 PMID:26303084 PMID:26688387 PMID:26778393 PMID:26806084 PMID:26813233 PMID:26980296 PMID:27051040 PMID:27267075 PMID:27284311 PMID:27403927 PMID:27583472 PMID:27849622 PMID:27854360 PMID:27899157 PMID:27989800 PMID:28186600 PMID:28261839 PMID:28456808 PMID:28492532 PMID:28611373 PMID:28624954 PMID:28659371 PMID:28743543 PMID:28857053 PMID:28879700 PMID:28947719 PMID:29051026 PMID:29237170 PMID:29758562 PMID:29785970 PMID:30064134 PMID:30113450 PMID:30165367 PMID:30316867 PMID:30401990 PMID:30599484 PMID:30668521 PMID:30815925 PMID:31012339 PMID:31180159 PMID:31219235 PMID:31373714 PMID:31429517 PMID:31499074 PMID:31871297 PMID:32229106 PMID:32345305 PMID:32985417 PMID:33505695 PMID:33514065 PMID:33548461 PMID:33728612 PMID:33750429 PMID:33819955 PMID:33863387 PMID:34152287 PMID:34276780 PMID:34333495 PMID:34689141 PMID:35445939 PMID:35561789 PMID:35809576 PMID:36394509 PMID:36572623 PMID:1487249 PMID:8325950 PMID:1424203 PMID:20888558 PMID:7970939 PMID:3186717 PMID:7643075 More...
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RGD:11576240, RGD:11576235, RGD:11576233, RGD:11576232, RGD:11571628, RGD:11571627, RGD:11571622 |
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Cdc45 |
cell division cycle 45 |
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ISO |
ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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G |
Fkbp4 |
FKBP prolyl isomerase 4 |
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ISS |
OMIM:300068 |
MouseDO |
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NCBI chr 4:161,703,379...161,711,833
Ensembl chr 4:161,703,379...161,711,833
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G |
Kat7 |
lysine acetyltransferase 7 |
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ISO |
protein:decreased expression:testes (human) |
RGD |
PMID:23707616 |
RGD:9681005 |
NCBI chr10:80,221,519...80,255,590
Ensembl chr10:80,221,524...80,255,567
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G |
Ar |
androgen receptor |
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ISO |
ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency |
ClinVar |
PMID:2594783 PMID:9544375 PMID:10852459 PMID:16804045 PMID:17970778 PMID:22403669 PMID:22412043 PMID:23637914 PMID:25299611 PMID:25326637 PMID:25500996 PMID:25740850 PMID:25741868 PMID:26688387 PMID:26806084 PMID:27583472 PMID:27899157 PMID:28492532 PMID:28611373 PMID:28624954 PMID:28659371 PMID:30599484 PMID:31871297 PMID:35809576 PMID:36394509 PMID:36572623 More...
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NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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G |
Cdc45 |
cell division cycle 45 |
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ISO |
ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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Dhx37 |
DEAH-box helicase 37 |
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ISO |
ClinVar Annotator: match by term: Congenital absence of testes | ClinVar Annotator: match by term: TESTICULAR REGRESSION, EMBRYONIC |
OMIM ClinVar |
PMID:25741868 PMID:26539891 PMID:28492532 PMID:31287541 PMID:31337883 PMID:37240737 More...
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NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802
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G |
Nr5a2 |
nuclear receptor subfamily 5, group A, member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18628394 |
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NCBI chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326
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G |
Ar |
androgen receptor |
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ISO |
ClinVar Annotator: match by term: Gynecomastia, familial |
ClinVar |
PMID:2594783 PMID:16804045 PMID:25326637 PMID:25740850 PMID:25741868 PMID:26688387 PMID:26806084 PMID:27583472 PMID:28492532 PMID:36572623 More...
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NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
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ISO ISS |
OMIM:139300 ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome | ClinVar Annotator: match by term: Familial gynecomastia, due to increased aromatase activity | ClinVar Annotator: match by term: Pseudohermaphroditism, female, due to placental aromatase deficiency CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 PMID:9177373 PMID:9211678 PMID:9536098 PMID:9718379 PMID:10566648 PMID:12466340 PMID:14602738 PMID:14715828 PMID:16199547 PMID:16882736 PMID:17164303 PMID:17576681 PMID:20048079 PMID:20186154 PMID:21521281 PMID:23329769 PMID:25088806 PMID:25301327 PMID:25415177 PMID:25741868 PMID:26822949 PMID:27086564 PMID:27256151 PMID:27693882 PMID:28492532 PMID:29324451 PMID:30968679 PMID:33108086 More...
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NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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G |
Gldn |
gliomedin |
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ISO |
ClinVar Annotator: match by term: Aromatase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
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G |
Bcl2l2 |
Bcl2-like 2 |
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ISO |
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RGD |
PMID:9500547 |
RGD:734642 |
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
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G |
Brca2 |
BRCA2, DNA repair associated |
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IMP |
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RGD |
PMID:12754522 |
RGD:727990 |
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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G |
Brca2m1Uwm |
BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison |
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IMP |
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RGD |
PMID:12754522 |
RGD:727990 |
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G |
Fbln1 |
fibulin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects |
ClinVar |
PMID:24084572 |
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NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
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G |
Cpe |
carboxypeptidase E |
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ISO |
ClinVar Annotator: match by term: BDV syndrome | ClinVar Annotator: match by term: BLAKEMORE-DURMAZ-VASILEIOU SYNDROME | ClinVar Annotator: match by term: CPE-related condition DNA:missense mutations:CDS:exon 2, c.361C>T p.Arg121|exon 6 c994del p.Ser333Alafx*22 |
OMIM ClinVar RGD |
PMID:25741868 PMID:26120850 PMID:28492532 PMID:34383079 PMID:35562395 PMID:34383079 More...
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RGD:405650667 |
NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233
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G |
Foxl2 |
forkhead box L2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 |
CTD ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:17277738 PMID:18372316 PMID:20429427 PMID:21325395 PMID:21889601 PMID:25741868 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:33538981 More...
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NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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G |
Phf6 |
PHD finger protein 6 |
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ISO ISS |
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders OMIM:301900 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15580208 PMID:15994862 PMID:18414213 PMID:23906836 PMID:24092917 PMID:24728327 PMID:25099957 PMID:25741868 PMID:25741869 PMID:26648834 PMID:27633282 PMID:27698851 PMID:28492532 PMID:28539120 PMID:28554332 PMID:30403997 PMID:30630810 PMID:33772537 PMID:34041787 PMID:35662002 PMID:36999477 More...
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NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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G |
Mcoln1 |
mucolipin TRP cation channel 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3963113 PMID:8053762 PMID:9321767 PMID:16199547 PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25033069 PMID:25267340 PMID:25299038 PMID:25359264 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29248984 PMID:30555943 PMID:31135245 PMID:31780887 PMID:32623594 PMID:33141049 PMID:34234304 PMID:34445196 PMID:35069422 PMID:35872528 PMID:36825042 PMID:38735647 More...
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NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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G |
Sox9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal |
ClinVar |
PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 PMID:9002675 PMID:11076045 PMID:11323423 PMID:12810722 PMID:15806394 PMID:20301724 PMID:21412441 PMID:25741868 PMID:26078652 PMID:26633542 PMID:28492532 PMID:31389106 PMID:34092239 More...
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NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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G |
Dlk1 |
delta like non-canonical Notch ligand 1 |
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ISO |
ClinVar Annotator: match by term: Central precocious puberty |
ClinVar |
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NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
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G |
Kiss1r |
KISS1 receptor |
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ISO |
ClinVar Annotator: match by term: Central precocious puberty 1 |
OMIM ClinVar |
PMID:17164310 PMID:18272894 PMID:23349759 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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G |
Mkrn3 |
makorin, ring finger protein, 3 |
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ISO ISS |
ClinVar Annotator: match by term: MKRN3-related condition | ClinVar Annotator: match by term: Precocious puberty, central, 2 OMIM:615346 |
OMIM ClinVar MouseDO |
PMID:23738509 PMID:25741868 PMID:26431553 PMID:28492532 PMID:28672280 |
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NCBI chr 1:115,926,774...115,929,288
Ensembl chr 1:115,926,776...115,929,283
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G |
Hhat |
hedgehog acyltransferase |
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ISO ISS |
OMIM:600092 ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome | ClinVar Annotator: match by term: Pseudohermaphrodism and chondrodysplasia |
OMIM MouseDO ClinVar |
PMID:24784881 PMID:25741868 PMID:28492532 PMID:30912300 |
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NCBI chr13:104,024,507...104,283,580
Ensembl chr13:104,010,916...104,282,893
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G |
Ar |
androgen receptor |
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ISO |
ClinVar Annotator: match by term: Complete androgen insensitivity syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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G |
Avpr1a |
arginine vasopressin receptor 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17218722 |
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NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
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G |
Avpr2 |
arginine vasopressin receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17218722 |
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NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
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ISO |
DNA:splice-site mutation |
RGD |
PMID:12161514 |
RGD:1599693 |
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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G |
Cyp11b1 |
cytochrome P450, family 11, subfamily b, polypeptide 1 |
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ISO |
11-beta-hydroxylase deficiency, OMIM:202010; DNA:mutations:multiple (human) DNA:frameshift mutation:cds:p.394fsX469 (human) |
RGD |
PMID:8964882 PMID:1430088 |
RGD:1600799, RGD:734864 |
NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278
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G |
Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hyperplasia |
ClinVar |
PMID:3295546 PMID:8506298 PMID:8964882 PMID:9302260 PMID:9536098 PMID:9546661 PMID:11095433 PMID:11549691 PMID:12428205 PMID:12452430 PMID:15026188 PMID:15062555 PMID:15255373 PMID:15755848 PMID:16046588 PMID:16199547 PMID:16670167 PMID:17172090 PMID:17371482 PMID:17576681 PMID:18204274 PMID:19204079 PMID:19844114 PMID:20089618 PMID:20529578 PMID:20947076 PMID:22333028 PMID:22508345 PMID:22964742 PMID:23940125 PMID:24987415 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26053152 PMID:26467025 PMID:26476331 PMID:26806323 PMID:26956189 PMID:27316665 PMID:28228528 PMID:28492532 PMID:28514642 PMID:29626607 PMID:29858860 PMID:30223866 PMID:31006099 PMID:32203225 PMID:32561571 PMID:32850530 PMID:33275286 PMID:33785438 PMID:33830237 PMID:33864926 PMID:35685215 PMID:36929050 More...
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NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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G |
Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
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ISO |
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1577471 PMID:2493025 PMID:2786493 PMID:2843762 PMID:8027220 PMID:8245018 PMID:8396144 PMID:8550762 PMID:9326943 PMID:9601054 PMID:9855540 PMID:9892022 PMID:10455016 PMID:10720067 PMID:10877510 PMID:11549685 PMID:11549876 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15771555 PMID:16176874 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17379008 PMID:18645707 PMID:19454579 PMID:19636199 PMID:20197673 PMID:21282350 PMID:21340157 PMID:21340163 PMID:21846181 PMID:21966534 PMID:22266943 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:24498484 PMID:25741868 PMID:26543560 PMID:27426448 PMID:28008861 PMID:28492532 PMID:29278670 PMID:29595516 PMID:31388123 PMID:31636948 PMID:32985417 PMID:33516834 PMID:33761789 PMID:33864926 PMID:34483146 PMID:34524979 PMID:34829455 PMID:35043964 PMID:35178494 PMID:35561789 PMID:35729303 PMID:35990289 PMID:2026124 More...
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RGD:4889141 |
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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G |
Cyp21a1 |
cytochrome P450, family 21, subfamily a, polypeptide 1 |
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ISO |
DNA:mutations:cds:multiple (human) |
RGD |
PMID:12930931 |
RGD:4889127 |
NCBI chr20:4,020,217...4,026,923
Ensembl chr20:4,023,767...4,026,923
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G |
Hsd3b2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital adrenal hyperplasia |
CTD ClinVar |
PMID:1825279 PMID:7626445 PMID:7633460 PMID:7651769 PMID:7962268 PMID:8004103 PMID:8060486 PMID:8284113 PMID:8316254 PMID:10599696 PMID:10651755 PMID:10656999 PMID:10770215 PMID:10973654 PMID:11196452 PMID:12050213 PMID:12050224 PMID:12608938 PMID:15585552 PMID:18252794 PMID:21340167 PMID:22579964 PMID:24033266 PMID:25211449 PMID:25741868 PMID:26467025 PMID:27899157 PMID:28207417 PMID:28492532 PMID:30029738 PMID:30668521 PMID:30719691 PMID:31006099 PMID:31533357 PMID:31950145 PMID:32506065 PMID:34055358 PMID:34628416 More...
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NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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G |
Htr4 |
5-hydroxytryptamine receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17218722 |
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NCBI chr18:55,765,981...55,949,921
Ensembl chr18:55,766,725...55,949,321
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G |
Pde8b |
phosphodiesterase 8B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18272904 |
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NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
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G |
Por |
cytochrome p450 oxidoreductase |
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ISO |
DNA:missense mutations:cds:p.A287P, p.H628P (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9360545 PMID:14758361 PMID:15220035 PMID:15350602 PMID:15793702 PMID:16199547 PMID:17635179 PMID:18230729 PMID:18551037 PMID:18559916 PMID:18930113 PMID:19837910 PMID:20410220 PMID:20732302 PMID:21741353 PMID:22162478 PMID:22252407 PMID:22462747 PMID:23365120 PMID:23878291 PMID:25741868 PMID:27068427 PMID:28492532 PMID:31598952 PMID:31888681 PMID:33864926 PMID:34009138 PMID:17505056 More...
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RGD:4889128 |
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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G |
Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15521956 |
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NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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G |
Ren |
renin |
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ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:31505456 |
RGD:125097501 |
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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G |
Star |
steroidogenic acute regulatory protein |
susceptibility |
ISO ISS |
DNA:transversion:intron:g.IVS4-11T>A (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110 |
ClinVar MouseDO RGD |
PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 PMID:9097960 PMID:9141542 PMID:9215316 PMID:9237999 PMID:9279522 PMID:10215405 PMID:10323391 PMID:10486704 PMID:10566637 PMID:10700722 PMID:11061515 PMID:11279152 PMID:11509019 PMID:12725533 PMID:12909641 PMID:14764819 PMID:15289763 PMID:15347444 PMID:15546900 PMID:15666846 PMID:15985476 PMID:16103714 PMID:16118340 PMID:16199547 PMID:16968793 PMID:17003020 PMID:17301050 PMID:18729825 PMID:19245813 PMID:19773404 PMID:20444910 PMID:21164258 PMID:21647419 PMID:21691943 PMID:21846663 PMID:21951701 PMID:22028173 PMID:22083155 PMID:22903695 PMID:23211570 PMID:23748066 PMID:23859637 PMID:23920000 PMID:24790358 PMID:24904850 PMID:24953586 PMID:25525159 PMID:25741868 PMID:25883920 PMID:26467025 PMID:26523528 PMID:26650942 PMID:26827627 PMID:27047663 PMID:28467518 PMID:28492532 PMID:28546232 PMID:28637490 PMID:29576868 PMID:30400872 PMID:30476142 PMID:31286101 PMID:31666050 PMID:32252217 PMID:32835366 PMID:33227378 PMID:34243750 PMID:34258490 PMID:8634702 PMID:9326645 More...
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RGD:1600070, RGD:4145592 |
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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G |
Tnxb |
tenascin XB |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hyperplasia |
ClinVar |
PMID:1864962 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 PMID:9378109 PMID:10408786 PMID:10857554 PMID:10908170 PMID:11220701 PMID:12220458 PMID:12384784 PMID:14715874 PMID:15858147 PMID:17164306 PMID:19773403 PMID:20301350 PMID:21532487 PMID:23269230 PMID:23359698 PMID:23769969 PMID:24033266 PMID:25481255 PMID:25525159 PMID:25538881 PMID:25741868 PMID:26209023 PMID:26467025 PMID:26804566 PMID:28392195 PMID:28401898 PMID:28492532 PMID:28644547 PMID:28819757 PMID:29386111 PMID:29715434 PMID:30048636 PMID:30833958 PMID:30889569 PMID:30995443 PMID:31159521 PMID:31446012 PMID:31571129 PMID:31586465 PMID:31637888 PMID:31980526 PMID:32185686 PMID:32272826 PMID:32358738 PMID:32367404 PMID:32616876 PMID:32647925 PMID:32714392 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33710594 PMID:33715135 PMID:34540367 More...
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G |
Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
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ISO |
ClinVar Annotator: match by term: 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: Adrenal hyperplasia hypertensive form | ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1430088 PMID:2022736 PMID:3295546 PMID:7049883 PMID:7903314 PMID:8004113 PMID:8506298 PMID:8768848 PMID:8964882 PMID:8989319 PMID:9302260 PMID:9435454 PMID:9536098 PMID:9546661 PMID:10487675 PMID:11095433 PMID:11549691 PMID:12428205 PMID:12452430 PMID:12966519 PMID:14682466 PMID:15026188 PMID:15062555 PMID:15255373 PMID:15324322 PMID:15751602 PMID:15755848 PMID:15807871 PMID:16030166 PMID:16046588 PMID:16199547 PMID:16670167 PMID:16984984 PMID:17121536 PMID:17124386 PMID:17172090 PMID:17296872 PMID:17371482 PMID:17576681 PMID:17692261 PMID:17726333 PMID:18204274 PMID:18663314 PMID:19204079 PMID:19820005 PMID:19844114 PMID:20024693 PMID:20089618 PMID:20331679 PMID:20529578 PMID:20947076 PMID:22333028 PMID:22465514 PMID:22964742 PMID:23345044 PMID:23940125 PMID:23940126 PMID:24022297 PMID:24033266 PMID:24334966 PMID:24536089 PMID:24987415 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26053152 PMID:26066897 PMID:26265915 PMID:26280318 PMID:26300845 PMID:26467025 PMID:26476331 PMID:26525354 PMID:26806323 PMID:26956189 PMID:27316665 PMID:27376426 PMID:27376433 PMID:27821898 PMID:28228528 PMID:28492532 PMID:28514642 PMID:28962970 PMID:29626607 PMID:29858860 PMID:29909741 PMID:30223866 PMID:31006099 PMID:32203225 PMID:32561571 PMID:32850530 PMID:33275286 PMID:33785438 PMID:33830237 PMID:33864926 PMID:35685215 More...
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NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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G |
Cyp11b3 |
cytochrome P450, family 11, subfamily b, polypeptide 3 |
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ISO |
ClinVar Annotator: match by term: P450c11b1 deficiency |
ClinVar |
PMID:11549691 |
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NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: CYP21 deficiency | ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
ClinVar |
PMID:25741868 PMID:26300845 PMID:28492532 PMID:30233493 PMID:30299480 PMID:30620006 More...
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NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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G |
Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: CYP21 deficiency |
ClinVar |
PMID:9326943 PMID:9601054 PMID:12466376 PMID:14747197 PMID:25741868 PMID:27426448 PMID:28492532 PMID:34483146 More...
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NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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G |
Igfals |
insulin-like growth factor binding protein, acid labile subunit |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:21636299 |
RGD:12910854 |
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21636299 |
RGD:12910854 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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G |
Por |
cytochrome p450 oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
ClinVar |
PMID:21070833 PMID:24847272 PMID:25741868 PMID:27068427 PMID:27376429 PMID:28492532 PMID:33666875 More...
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NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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G |
Tnxb |
tenascin XB |
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ISO |
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
ClinVar |
PMID:1496017 PMID:1644925 PMID:1864962 PMID:2303461 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 PMID:9099839 PMID:9187661 PMID:9215318 PMID:9378109 PMID:10408786 PMID:10496074 PMID:10720040 PMID:10857554 PMID:10908170 PMID:11220701 PMID:12220458 PMID:12384784 PMID:14513879 PMID:14715874 PMID:15110320 PMID:15858147 PMID:16788163 PMID:17119906 PMID:17164306 PMID:19505723 PMID:19773403 PMID:20301350 PMID:21134444 PMID:21169732 PMID:21228398 PMID:21329531 PMID:21532487 PMID:21534945 PMID:22841790 PMID:23166432 PMID:23241443 PMID:23269230 PMID:23359698 PMID:23359706 PMID:23769969 PMID:24033266 PMID:24077358 PMID:24904866 PMID:25227725 PMID:25481255 PMID:25525159 PMID:25538881 PMID:25630015 PMID:25741868 PMID:26206692 PMID:26209023 PMID:26467025 PMID:26804566 PMID:28392195 PMID:28401898 PMID:28492532 PMID:28644547 PMID:28741757 PMID:28819757 PMID:29386111 PMID:29715434 PMID:29996815 PMID:30048636 PMID:30833958 PMID:30889569 PMID:30968594 PMID:30995443 PMID:31159521 PMID:31446012 PMID:31571129 PMID:31586465 PMID:31637888 PMID:31980526 PMID:32185686 PMID:32272826 PMID:32289882 PMID:32358738 PMID:32367404 PMID:32616876 PMID:32647925 PMID:32714392 PMID:32838438 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33604243 PMID:33710594 PMID:33715135 PMID:34540367 PMID:37011374 More...
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G |
Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1515452 PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2493025 PMID:2786493 PMID:2843762 PMID:6976525 PMID:8027220 PMID:8245018 PMID:8287576 PMID:8345056 PMID:8396144 PMID:8550762 PMID:9177409 PMID:9326943 PMID:9601054 PMID:9855540 PMID:9888582 PMID:9892022 PMID:10455016 PMID:10720067 PMID:10877510 PMID:11243732 PMID:11422109 PMID:11549685 PMID:11549876 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715825 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15713706 PMID:15771555 PMID:15844475 PMID:16121340 PMID:16176874 PMID:16199547 PMID:16477341 PMID:16483711 PMID:16569739 PMID:16772352 PMID:16822828 PMID:16849412 PMID:17192295 PMID:17285537 PMID:17379008 PMID:18422032 PMID:19454579 PMID:19470621 PMID:19508587 PMID:19636199 PMID:19728179 PMID:19793597 PMID:20170344 PMID:20197673 PMID:21282350 PMID:21340157 PMID:21340163 PMID:21550081 PMID:21822006 PMID:21846181 PMID:21966534 PMID:22087567 PMID:22266943 PMID:22309630 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:24498484 PMID:24593890 PMID:25697092 PMID:25741868 PMID:26467025 PMID:26543560 PMID:26770544 PMID:26845730 PMID:26980296 PMID:27426448 PMID:27959413 PMID:28008861 PMID:28130116 PMID:28492532 PMID:28870780 PMID:29278670 PMID:29345162 PMID:29595516 PMID:29858860 PMID:30002216 PMID:30229581 PMID:31388123 PMID:31636948 PMID:31885295 PMID:32215889 PMID:32561571 PMID:32784047 PMID:32985417 PMID:33516834 PMID:33753170 PMID:33761789 PMID:33780934 PMID:33864926 PMID:34097983 PMID:34483146 PMID:34524979 PMID:34724156 PMID:34829455 PMID:35043964 PMID:35561789 PMID:35729303 PMID:35810428 PMID:35990289 More...
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NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 PMID:17576681 PMID:18182448 PMID:19116240 PMID:21159840 PMID:21880796 PMID:23337730 PMID:24033266 PMID:25741868 PMID:26300845 PMID:28492532 PMID:29178636 PMID:30233493 PMID:30299480 PMID:30620006 PMID:31289154 PMID:34281122 More...
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NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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G |
H6pd |
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) |
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ISO |
DNA:point mutation:CDS:p.R453Q (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12858176 |
RGD:1625067 |
NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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G |
Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
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ISO |
DNA:insertion,transversion:intron:86557insA, 83597T>G (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:25526675 PMID:12858176 |
RGD:1625067 |
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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G |
H6pd |
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) |
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ISO |
ClinVar Annotator: match by term: Cortisone reductase deficiency 1 |
OMIM ClinVar |
PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 PMID:16356929 PMID:16817821 PMID:17062770 PMID:18628520 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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G |
Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
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ISO ISS |
OMIM:614662 ClinVar Annotator: match by term: Cortisone reductase deficiency 2 |
OMIM MouseDO ClinVar |
PMID:21325058 PMID:25741868 |
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NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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G |
Abcc8 |
ATP binding cassette subfamily C member 8 |
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ISO |
ClinVar Annotator: match by term: Bilateral cryptorchidism |
ClinVar |
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 More...
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NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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G |
Adamts16 |
ADAM metallopeptidase with thrombospondin type 1 motif, 16 |
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IMP |
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RGD |
PMID:32037220 PMID:24983376 |
RGD:38548917, RGD:13434925 |
NCBI chr 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494
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G |
Adamts16em1Bj |
ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj |
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IMP |
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RGD |
PMID:24983376 PMID:32037220 |
RGD:13434925, RGD:38548917 |
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G |
Anxa5 |
annexin A5 |
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IEP |
protein:increased expression: seminiferous tubulle |
RGD |
PMID:19376566 |
RGD:10053693 |
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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G |
Ar |
androgen receptor |
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ISO |
DNA:repeats:exon |
RGD |
PMID:15472213 PMID:15757859 |
RGD:1578685, RGD:11576231 |
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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G |
Atrx |
ATRX, chromatin remodeler |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: undescended testicle |
CTD ClinVar |
PMID:7697714 PMID:19291773 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532 More...
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Bcl2l1 |
Bcl2-like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26050606 |
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NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
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G |
Btd |
biotinidase |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
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NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
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G |
Casp3 |
caspase 3 |
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ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:26050606 PMID:29606031 |
RGD:13792609 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Cbl |
Cbl proto-oncogene |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20694012 |
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NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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G |
Cftr |
CF transmembrane conductance regulator |
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ISO |
mRNA, protein:decreased expression:testis |
RGD |
PMID:22777528 |
RGD:11567213 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Chrm3 |
cholinergic receptor, muscarinic 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22077972 |
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NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
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G |
Esr1 |
estrogen receptor 1 |
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IEP |
mRNA:decreased expression:testis |
RGD |
PMID:20951417 |
RGD:8553220 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Fas |
Fas cell surface death receptor |
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IEP |
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RGD |
PMID:29606031 |
RGD:13792609 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Gfer |
growth factor, augmenter of liver regeneration |
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IEP |
protein:decreased expression:male germ cell: |
RGD |
PMID:17918708 |
RGD:9685739 |
NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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G |
Gpx4 |
glutathione peroxidase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26050606 |
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NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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G |
Hoxd13 |
homeo box D13 |
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ISO |
DNA:splice-site mutation:exon:180A>G (human) |
RGD |
PMID:17216618 |
RGD:12743597 |
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Hsd3b2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26050606 |
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NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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G |
Hsf1 |
heat shock transcription factor 1 |
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IEP |
protein:increased expression:testis, spermatocyte, nucleus (rat) |
RGD |
PMID:21480429 |
RGD:10402945 |
NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
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G |
Htra2 |
HtrA serine peptidase 2 |
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IEP |
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RGD |
PMID:16563141 |
RGD:10402928 |
NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
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G |
Igf1r |
insulin-like growth factor 1 receptor |
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IEP |
protein:decreased expression:testis (rat) |
RGD |
PMID:7473418 |
RGD:12904727 |
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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G |
Insl3 |
insulin-like 3 |
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ISO ISS |
idiopathic cryptorchidism, OMIM:219050 ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism CTD Direct Evidence: marker/mechanism |
MouseDO ClinVar CTD OMIM RGD |
PMID:11095425 PMID:11746019 PMID:12601553 PMID:12970298 PMID:14687758 PMID:16102138 PMID:25741868 PMID:12601553 More...
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RGD:1600162 |
NCBI chr16:18,398,682...18,400,566
Ensembl chr16:18,384,829...18,400,560
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
PMID:25741868 |
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NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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G |
Kdm5a |
lysine demethylase 5A |
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IEP |
mRNA:increased expression:testes (rat) |
RGD |
PMID:24679876 |
RGD:9588526 |
NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
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G |
Kiss1r |
KISS1 receptor |
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ISO |
ClinVar Annotator: match by term: Bilateral cryptorchidism |
ClinVar |
PMID:15598687 PMID:25741868 PMID:28492532 PMID:29452377 |
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NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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G |
Lsm1 |
LSM1 homolog, mRNA degradation associated |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
PMID:25741868 PMID:31010896 |
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NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852
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G |
Mefv |
MEFV innate immunity regulator, pyrin |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: undescended testicle |
ClinVar |
PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 PMID:10879615 PMID:11464248 PMID:11938447 PMID:11977178 PMID:15643295 PMID:15942916 PMID:16498449 PMID:16785446 PMID:16889173 PMID:18353061 PMID:19790133 PMID:20008920 PMID:20041150 PMID:21290976 PMID:21600797 PMID:22037353 PMID:22337722 PMID:22903357 PMID:23010357 PMID:23070486 PMID:23325590 PMID:23334425 PMID:23867542 PMID:23907647 PMID:24117178 PMID:24318677 PMID:24369413 PMID:25203624 PMID:25741868 PMID:26247045 PMID:26554556 PMID:26620106 PMID:27030597 PMID:27838405 PMID:28421071 PMID:28492532 PMID:29178647 PMID:29260407 PMID:29599418 PMID:29927949 PMID:30171907 PMID:31411330 PMID:33223529 More...
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NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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G |
Mfsd2a |
MFSD2 lysolipid transporter A, lysophospholipid |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
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NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690
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G |
Msx1 |
msh homeobox 1 |
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IEP |
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RGD |
PMID:18222913 |
RGD:5132606 |
NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
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G |
Nfkbia |
NFKB inhibitor alpha |
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ISO |
protein:decreased expression:testis |
RGD |
PMID:22777528 |
RGD:11567213 |
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Ngf |
nerve growth factor |
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IEP |
mRNA,protein:decreased expression:testis |
RGD |
PMID:22490502 |
RGD:402463952 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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G |
Nipbl |
NIPBL, cohesin loading factor |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
PMID:25741868 |
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NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
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G |
Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
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ISO |
ClinVar Annotator: match by term: Bilateral cryptorchidism |
ClinVar |
PMID:25741868 |
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NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
mRNA, protein:increased expression:testis |
RGD |
PMID:22777528 |
RGD:11567213 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Rab3gap1 |
RAB3 GTPase activating protein catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
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NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
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ISO |
protein:increased expression:testis |
RGD |
PMID:22777528 |
RGD:11567213 |
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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G |
Rxfp2 |
relaxin family peptide receptor 2 |
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ISO |
bilateral cryptorchidism, OMIM:219050 ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism |
ClinVar RGD |
PMID:12217959 PMID:12970298 PMID:20636340 PMID:25741868 PMID:12217959 |
RGD:1600187 |
NCBI chr12:4,924,747...4,986,672
Ensembl chr12:4,925,722...4,986,596
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G |
Smchd1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
PMID:25741868 PMID:28067909 |
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NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
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G |
Sox3 |
SRY-box transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: undescended testicle |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
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NCBI chr X:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678
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G |
Sts |
steroid sulfatase |
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IEP |
protein:increased expression:scrotum, testis |
RGD |
PMID:2576297 |
RGD:1601402 |
NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402
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G |
Syne2 |
spectrin repeat containing nuclear envelope protein 2 |
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IAGP |
DNA:deletion:exon: |
RGD |
PMID:26502805 |
RGD:12911229 |
NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064
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G |
Szt2 |
SZT2 subunit of KICSTOR complex |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: undescended testicle |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30564332 PMID:30755392 PMID:35773235 |
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NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
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G |
Tmco1 |
transmembrane and coiled-coil domains 1 |
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ISO |
ClinVar Annotator: match by term: undescended testicle |
ClinVar |
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 |
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NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
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G |
Tuba1a |
tubulin, alpha 1A |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
PMID:18954413 PMID:24860126 PMID:25741868 PMID:28492532 PMID:30744660 PMID:32581362 More...
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NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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G |
Brat1 |
BRCA1-associated ATM activator 1 |
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ISO |
ClinVar Annotator: match by term: DBP deficiency |
ClinVar |
PMID:16385454 PMID:20301500 PMID:22279524 PMID:23035047 PMID:27480663 PMID:28492532 More...
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NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
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G |
Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
severity |
ISO ISS |
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: D-bifunctional protein deficiency | ClinVar Annotator: match by term: DBP deficiency OMIM:261515 DNA:mutations:multiple (human) |
ClinVar MouseDO OMIM RGD |
PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10400999 PMID:10419023 PMID:10497229 PMID:10671535 PMID:10748062 PMID:11330053 PMID:11743515 PMID:11810648 PMID:11992265 PMID:12562856 PMID:16199547 PMID:16385454 PMID:17576681 PMID:20673864 PMID:20681997 PMID:22507161 PMID:22864515 PMID:23100014 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:24602372 PMID:25741868 PMID:25882080 PMID:25954003 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27124789 PMID:27243974 PMID:27290639 PMID:27528516 PMID:27618451 PMID:27790638 PMID:28017249 PMID:28490743 PMID:28492532 PMID:28649525 PMID:28708278 PMID:28830375 PMID:28973083 PMID:30396834 PMID:30561787 PMID:31230720 PMID:31455392 PMID:32042923 PMID:32904102 PMID:33510602 PMID:33539324 PMID:34440436 PMID:34623748 PMID:34645488 PMID:34660840 PMID:34719423 PMID:34732400 PMID:34906502 PMID:36939041 PMID:9345094 PMID:16385454 More...
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RGD:1599968, RGD:10411884 |
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME |
CTD OMIM ClinVar |
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 PMID:9536098 PMID:10196384 PMID:10767341 PMID:11809892 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:20122405 PMID:20456449 PMID:21143350 PMID:21228398 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:24033266 PMID:24154677 PMID:25136123 PMID:25326635 PMID:25356239 PMID:25463447 PMID:25741868 PMID:25820262 PMID:26206375 PMID:26218421 PMID:26620705 PMID:27004399 PMID:27186691 PMID:27356891 PMID:28170084 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 PMID:30111349 PMID:31130284 PMID:31501894 PMID:32453336 PMID:32496904 PMID:32504035 PMID:32557569 PMID:32853555 PMID:33904453 PMID:34005834 PMID:34052969 PMID:34853308 PMID:38177409 More...
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NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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G |
Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25462787 |
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NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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G |
Crh |
corticotropin releasing hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20002962 |
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NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Delayed puberty |
ClinVar |
PMID:12627230 PMID:16606836 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32853167 PMID:33548149 More...
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NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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G |
Gnrhr |
gonadotropin releasing hormone receptor |
|
ISO |
ClinVar Annotator: match by term: Delayed puberty |
ClinVar |
PMID:25636053 |
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NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
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G |
Igfals |
insulin-like growth factor binding protein, acid labile subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14762184 PMID:17726072 |
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NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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G |
Il17rd |
interleukin 17 receptor D |
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ISO |
ClinVar Annotator: match by term: Delayed puberty |
ClinVar |
PMID:23643382 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 |
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NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556
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G |
Kiss1 |
KiSS-1 metastasis-suppressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21527035 |
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NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612
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G |
Kiss1r |
KISS1 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21527035 |
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NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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G |
Lepr |
leptin receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17229951 |
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NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Lhb |
luteinizing hormone subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15602022 |
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NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972 Ensembl chr 1:95,900,984...95,901,972
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G |
Sema3a |
semaphorin 3A |
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ISO |
ClinVar Annotator: match by term: Delayed puberty |
ClinVar |
PMID:25636053 PMID:28492532 |
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NCBI chr 4:21,282,398...21,754,834
Ensembl chr 4:21,287,982...21,494,432
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G |
Tac3 |
tachykinin precursor 3 |
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ISO |
ClinVar Annotator: match by term: Delayed puberty |
ClinVar |
PMID:25636053 PMID:28492532 PMID:29419413 |
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NCBI chr 7:63,562,552...63,569,170
Ensembl chr 7:63,562,552...63,569,170
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G |
Tacr3 |
tachykinin receptor 3 |
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ISO |
ClinVar Annotator: match by term: Delayed puberty |
ClinVar |
PMID:25636053 |
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NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
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G |
Wfdc17 |
WAP four-disulfide core domain 17 |
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ISO |
ClinVar Annotator: match by term: Delayed puberty |
ClinVar |
PMID:8504298 PMID:11297579 PMID:23643382 PMID:25636053 PMID:28492532 PMID:29758562 More...
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NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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G |
Ar |
androgen receptor |
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ISO |
protein:decreased expression:sertoli cell |
RGD |
PMID:16245160 |
RGD:1643343 |
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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G |
Dcdc1-ps1 |
doublecortin domain containing 1, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:92,486,054...92,896,696
Ensembl chr 3:92,718,047...92,896,542
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G |
Dnajc24 |
DnaJ heat shock protein family (Hsp40) member C24 |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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G |
Immp1l |
inner mitochondrial membrane peptidase subunit 1 |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:92,385,329...92,449,559
Ensembl chr 3:92,385,379...92,452,313
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G |
Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Rcn1 |
reticulocalbin 1 |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:91,841,052...91,855,295
Ensembl chr 3:91,841,052...91,855,295
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G |
Wt1 |
WT1 transcription factor |
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ISO ISS |
ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor OMIM:194080 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:1671709 PMID:5665984 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8411073 PMID:8621495 PMID:8810912 PMID:8956030 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10224085 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10571943 PMID:10603123 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:11241055 PMID:11278460 PMID:11322369 PMID:11738793 PMID:12024052 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12855602 PMID:12882970 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15349765 PMID:15483024 PMID:15509792 PMID:15957141 PMID:16199547 PMID:16439601 PMID:16717397 PMID:16932893 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17551084 PMID:17576681 PMID:17630404 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18385267 PMID:18516627 PMID:18559874 PMID:18591546 PMID:18618575 PMID:19048299 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19442771 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20106868 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:20562648 PMID:20595692 PMID:21125408 PMID:21384108 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22172722 PMID:22465478 PMID:22703879 PMID:22815844 PMID:22876585 PMID:22908070 PMID:23117548 PMID:23295293 PMID:23302619 PMID:23456818 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24138039 PMID:24161391 PMID:24379226 PMID:24402088 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25451826 PMID:25461826 PMID:25501161 PMID:25623218 PMID:25688735 PMID:25720465 PMID:25741868 PMID:25813279 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26661695 PMID:26725263 PMID:26882358 PMID:27013732 PMID:27124303 PMID:27241786 PMID:27300205 PMID:27719739 PMID:27854218 PMID:27899157 PMID:28204945 PMID:28334862 PMID:28492532 PMID:28658201 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:30221469 PMID:30406062 PMID:30655312 PMID:30668521 PMID:30721404 PMID:30963316 PMID:31738409 PMID:31937884 PMID:31970404 PMID:32352694 PMID:32493750 PMID:32581362 PMID:32604935 PMID:32719394 PMID:32891756 PMID:33226606 PMID:34031707 PMID:34386660 PMID:34392242 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35535697 PMID:35904974 PMID:36349777 PMID:36980135 PMID:38054408 PMID:12161615 More...
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RGD:1580624 |
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Foxo3 |
forkhead box O3 |
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ISS |
OMIM:166950 |
MouseDO |
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NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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G |
Lmna |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy |
OMIM ClinVar |
PMID:2007407 PMID:2270059 PMID:2733290 PMID:4684700 PMID:9500556 PMID:9536098 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11015599 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11344241 PMID:11792809 PMID:11897440 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12647844 PMID:12669268 PMID:12716787 PMID:12920062 PMID:12927424 PMID:12927431 PMID:13129702 PMID:14510863 PMID:14607793 PMID:14659775 PMID:14749366 PMID:14985400 PMID:15060110 PMID:15219508 PMID:15298354 PMID:15531479 PMID:15539782 PMID:15678000 PMID:15770669 PMID:15965218 PMID:16181372 PMID:16199547 PMID:16364671 PMID:16415042 PMID:16459536 PMID:16585054 PMID:16630578 PMID:16671095 PMID:16715312 PMID:17150192 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17576681 PMID:17711925 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18585512 PMID:18728124 PMID:18795223 PMID:18926329 PMID:19011997 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19283854 PMID:19318026 PMID:19401371 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19446900 PMID:19574635 PMID:19622949 PMID:19638735 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19882644 PMID:20074070 PMID:20130076 PMID:20155465 PMID:20160190 PMID:20307303 PMID:20497714 PMID:20625965 PMID:20662858 PMID:20848652 PMID:21479595 PMID:21520333 PMID:21831885 PMID:21840938 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22103509 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23582089 PMID:23702046 PMID:23804595 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24033266 PMID:24058181 PMID:24080738 PMID:24108105 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24846508 PMID:24943589 PMID:25025039 PMID:25163546 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25793944 PMID:25873806 PMID:25885670 PMID:26027246 PMID:26084686 PMID:26383259 PMID:26467025 PMID:26468400 PMID:26498160 PMID:26662654 PMID:26724531 PMID:26733286 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27153395 PMID:27332903 PMID:27405450 PMID:27421120 PMID:27447704 PMID:27504462 PMID:27506821 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27633507 PMID:27650965 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27884249 PMID:27896284 PMID:28082330 PMID:28087566 PMID:28254189 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28790152 PMID:28807990 PMID:28878402 PMID:29095976 PMID:29149195 PMID:29237675 PMID:29255176 PMID:29438482 PMID:29620724 PMID:29693488 PMID:29773157 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30165155 PMID:30165862 PMID:30287275 PMID:30326651 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30528549 PMID:30847666 PMID:30871747 PMID:31019283 PMID:31194872 PMID:31264968 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31521807 PMID:31539150 PMID:31744510 PMID:31794942 PMID:31829210 PMID:31836692 PMID:31931689 PMID:31977013 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32413188 PMID:32461654 PMID:32517491 PMID:32571898 PMID:32818388 PMID:32880476 PMID:32939435 PMID:33407844 PMID:33502018 PMID:33803652 PMID:33893211 PMID:33963534 PMID:34011823 PMID:34340952 PMID:34495297 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:35026164 PMID:35291351 PMID:35384599 PMID:35449878 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:37246508 PMID:37679847 More...
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Akr1c1 |
aldo-keto reductase family 1, member C1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25304492 |
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NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
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G |
Akr1c2 |
aldo-keto reductase family 1, member C2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25304492 |
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NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
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G |
Akr1c3 |
aldo-keto reductase family 1, member C3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25304492 |
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NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
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G |
Amh |
anti-Mullerian hormone |
susceptibility |
ISO |
Persistent Mullerian Duct Syndrome type I, OMIM:261550;DNA:deletion, nonsense mutation:exon |
RGD |
PMID:1483695 |
RGD:1601180 |
NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282
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G |
Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Ambiguous genitalia |
ClinVar |
PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532 |
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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G |
Cbx2 |
chromobox 2 |
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ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar RGD |
PMID:9641679 |
RGD:9586734 |
NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
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G |
Ccdc141 |
coiled-coil domain containing 141 |
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ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079
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G |
Dhh |
desert hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30675029 PMID:34858435 PMID:36110220 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Flrt3 |
fibronectin leucine rich transmembrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr 3:127,994,491...128,008,137
Ensembl chr 3:127,994,226...128,007,841
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G |
Foxp1 |
forkhead box P1 |
|
ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
ISO |
ClinVar Annotator: match by term: Ambiguous genitalia |
ClinVar |
PMID:18203166 PMID:25741868 PMID:26552811 PMID:28492532 |
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NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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G |
Ghrhr |
growth hormone releasing hormone receptor |
|
ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776
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G |
Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
PMID:25741868 |
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NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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G |
Gli3 |
GLI family zinc finger 3 |
|
ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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G |
Gprc6a |
G protein-coupled receptor, class C, group 6, member A |
|
ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412
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G |
Hsd17b3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
|
ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:17071532 PMID:8075637 |
RGD:1599964 |
NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
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G |
Kiss1 |
KiSS-1 metastasis-suppressor |
|
ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612
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G |
Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22615892 |
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NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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G |
Macrod2 |
mono-ADP ribosylhydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr 3:127,720,066...129,737,511
Ensembl chr 3:127,720,181...129,734,492
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G |
Magel2 |
MAGE family member L2 |
|
ISO |
ClinVar Annotator: match by term: Ambiguous genitalia |
ClinVar |
PMID:24076603 PMID:25741868 PMID:26365340 PMID:27195816 PMID:28492532 PMID:30302899 PMID:31152388 PMID:31680349 More...
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NCBI chr 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250
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G |
Map3k1 |
mitogen-activated protein kinase kinase kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463
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G |
Myrf |
myelin regulatory factor |
|
ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
PMID:25741868 |
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NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
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G |
Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
|
ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31513305 PMID:31852928 PMID:35432193 PMID:35935368 More...
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NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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G |
Plxna3 |
plexin A3 |
|
ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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G |
Por |
cytochrome p450 oxidoreductase |
|
ISO |
ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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G |
Prok2 |
prokineticin 2 |
|
ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
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G |
Prop1 |
PROP paired-like homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434
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Rxfp2 |
relaxin family peptide receptor 2 |
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ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr12:4,924,747...4,986,672
Ensembl chr12:4,925,722...4,986,596
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G |
Sox4 |
SRY-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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Spry4 |
sprouty RTK signaling antagonist 4 |
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ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004
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G |
Tbce |
tubulin folding cofactor E |
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ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
PMID:16199547 PMID:25741868 PMID:27666369 PMID:28492532 PMID:33652732 PMID:34134906 PMID:34356170 PMID:35432193 More...
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NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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G |
Tgif1 |
TGFB-induced factor homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
PMID:25741868 |
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NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
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G |
Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Wwox |
WW domain-containing oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Disorder of sexual differentiation |
ClinVar |
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NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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G |
Amhr2 |
anti-Mullerian hormone receptor type 2 |
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ISO |
protein:increased expression:ovary |
RGD |
PMID:17988723 |
RGD:2315651 |
NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
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G |
Brca1 |
BRCA1, DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Dysgerminoma |
ClinVar |
PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 PMID:21204799 PMID:23479189 PMID:23536787 PMID:24010542 PMID:24312913 PMID:24372583 PMID:24728189 PMID:25741868 PMID:26295337 PMID:26296701 PMID:26467025 PMID:26822237 PMID:27062684 PMID:27836010 PMID:28492532 PMID:28993434 PMID:29446198 PMID:29907814 PMID:30078507 PMID:30130155 PMID:30322717 PMID:30702160 PMID:30720863 PMID:31159747 PMID:32885271 PMID:33471991 More...
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NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
associated with Acrocephalosyndactylia (MeSH:D000168) |
RGD |
PMID:17243131 |
RGD:2289660 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Inha |
inhibin subunit alpha |
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ISO |
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RGD |
PMID:11720904 |
RGD:2290380 |
NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
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Kit |
KIT proto-oncogene receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Dysgerminoma |
ClinVar RGD |
PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 PMID:9827716 PMID:9990072 PMID:10362788 PMID:11276010 PMID:11380399 PMID:11493470 PMID:15790786 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16912224 PMID:17259998 PMID:18024392 PMID:18955458 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:20147452 PMID:21642685 PMID:21689725 PMID:21690468 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 PMID:10362788 More...
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RGD:2292181 |
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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G |
Pou5f1 |
POU class 5 homeobox 1 |
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ISO |
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RGD |
PMID:15371950 |
RGD:2292443 |
NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
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G |
Set |
Set nuclear proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Dysgerminoma |
ClinVar |
PMID:26822237 |
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NCBI chr 3:13,334,564...13,345,598
Ensembl chr 3:13,335,041...13,363,567
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G |
St14 |
ST14 transmembrane serine protease matriptase |
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ISO |
protein:increased expression:ovary |
RGD |
PMID:16439987 |
RGD:2315091 |
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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IEP |
protein:increased expression:testis (rat) |
RGD |
PMID:14638441 |
RGD:1358455 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Hnrnph1 |
heterogeneous nuclear ribonucleoprotein H1 |
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IDA |
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RGD |
PMID:16092147 |
RGD:1624236 |
NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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IDA |
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RGD |
PMID:16092147 |
RGD:1624236 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Inha |
inhibin subunit alpha |
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IEP |
protein:decreased expression:serum: |
RGD |
PMID:11431143 |
RGD:8694089 |
NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
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G |
Serpina1 |
serpin family A member 1 |
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IEP |
protein:increased expression:serum |
RGD |
PMID:16092147 |
RGD:1624236 |
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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G |
Inha |
inhibin subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16684832 |
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NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
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G |
Inhbb |
inhibin subunit beta B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16684832 |
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NCBI chr13:30,530,860...30,536,566
Ensembl chr13:30,530,860...30,537,832
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G |
Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
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ISO |
ClinVar Annotator: match by term: Familial male-limited precocious puberty | ClinVar Annotator: match by term: Gonadotropin-independent familial sexual precocity CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7757065 PMID:7892197 PMID:8855841 PMID:8929952 PMID:8943222 PMID:9039330 PMID:9467560 PMID:9661624 PMID:9703386 PMID:9851790 PMID:10084607 PMID:11134146 PMID:11391350 PMID:11849253 PMID:11867621 PMID:12679452 PMID:16123233 PMID:16684832 PMID:16887451 PMID:17030087 PMID:17055147 PMID:17055151 PMID:18345393 PMID:19209621 PMID:21490077 PMID:23686864 PMID:23861372 PMID:23982246 PMID:25741868 PMID:25741869 PMID:26040673 PMID:26467025 PMID:26831561 PMID:27532428 PMID:28339861 PMID:28492532 PMID:29654692 PMID:30283825 PMID:31967000 More...
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NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Familial precocious puberty |
ClinVar |
PMID:25741868 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Rad51c |
RAD51 paralog C |
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ISO |
ClinVar Annotator: match by term: Familial ovarian carcinoma |
ClinVar |
PMID:25741868 PMID:33832919 |
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NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248
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G |
Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Frasier syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8621495 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10571943 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:11241055 PMID:11738793 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:16439601 PMID:16717397 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:18559874 PMID:18591546 PMID:18618575 PMID:19048299 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:20595692 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22703879 PMID:22815844 PMID:22908070 PMID:23117548 PMID:23295293 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25349199 PMID:25451826 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26725263 PMID:27013732 PMID:27719739 PMID:27854218 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31970404 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36349777 PMID:36980135 More...
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Alx4 |
ALX homeobox 4 |
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ISO |
ClinVar Annotator: match by term: Frontonasal dysplasia 2 |
ClinVar OMIM |
PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 |
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NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
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G |
Cbx2 |
chromobox 2 |
no_association |
ISO |
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RGD |
PMID:23219007 |
RGD:9586730 |
NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
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G |
Dmrt2 |
doublesex and mab-3 related transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Gonadal agenesis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:223,317,543...223,324,131
Ensembl chr 1:223,317,642...223,324,131
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G |
Fmr1 |
fragile X messenger ribonucleoprotein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22043169 |
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NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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G |
Fshr |
follicle stimulating hormone receptor |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis |
ClinVar |
PMID:10022448 PMID:22414334 PMID:28492532 |
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NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
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G |
Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
treatment |
IMP |
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RGD |
PMID:16467257 |
RGD:12904919 |
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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G |
Tspyl1 |
TSPY-like 1 |
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ISO |
sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 |
RGD |
PMID:15273283 |
RGD:1599672 |
NCBI chr20:38,082,003...38,084,562
Ensembl chr20:38,081,951...38,084,554 Ensembl chr20:38,081,951...38,084,554
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G |
Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis |
ClinVar |
PMID:25741868 |
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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G |
Rnf216 |
ring finger protein 216 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebellar ataxia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome |
OMIM CTD ClinVar |
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 PMID:32982993 More...
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NCBI chr12:11,454,752...11,576,305
Ensembl chr12:11,454,797...11,576,304
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G |
Amh |
anti-Mullerian hormone |
disease_progression |
ISO |
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RGD |
PMID:19359032 |
RGD:2315639 |
NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282
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G |
Bmp4 |
bone morphogenetic protein 4 |
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ISO |
mRNA:increased expression:ovary |
RGD |
PMID:16488995 |
RGD:1643593 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
Ccnd2 |
cyclin D2 |
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ISO |
mRNA:increased expression:ovary |
RGD |
PMID:11994539 |
RGD:2289157 |
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
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ISO |
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RGD |
PMID:12203782 |
RGD:2296066 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
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ISO |
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RGD |
PMID:12203782 |
RGD:2296066 |
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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G |
Cmklr1 |
chemerin chemokine-like receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29653259 |
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NCBI chr12:42,974,462...43,027,321
Ensembl chr12:42,974,410...43,028,129
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G |
Ctnnb1 |
catenin beta 1 |
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ISO ISS |
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MouseDO RGD |
PMID:16488995 |
RGD:1643593 |
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Fancf |
FA complementation group F |
disease_progression susceptibility |
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:15574200 PMID:21915857 |
RGD:2298508, RGD:11049141 |
NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923
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G |
Fhit |
fragile histidine triad diadenosine triphosphatase |
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ISO |
DNA:hypermethylation:promoter, ovary |
RGD |
PMID:15574200 |
RGD:2298508 |
NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
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G |
Fshr |
follicle stimulating hormone receptor |
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ISO |
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RGD |
PMID:11994539 |
RGD:2289157 |
NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
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G |
Gnai2 |
G protein subunit alpha i2 |
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ISO |
ClinVar Annotator: match by term: Granulosa cell tumor, somatic |
ClinVar |
PMID:2116665 |
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NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
|
ISO |
mRNA:decreased expression:ovary |
RGD |
PMID:18028988 |
RGD:2302173 |
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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G |
Lepr |
leptin receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28861689 |
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NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
|
ISO |
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RGD |
PMID:15967102 PMID:11994539 |
RGD:2302176, RGD:2289157 |
NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
|
ISO |
DNA:hypermethylation:promoter (human) |
RGD |
PMID:14970867 |
RGD:2317693 |
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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G |
Prkar2b |
protein kinase cAMP-dependent type II regulatory subunit beta |
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ISO |
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RGD |
PMID:11994539 |
RGD:2289157 |
NCBI chr 6:48,563,659...48,653,933
Ensembl chr 6:48,563,662...48,653,933
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
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RGD |
PMID:11994539 |
RGD:2289157 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Rarres2 |
retinoic acid receptor responder 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29653259 |
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NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556
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G |
Sgk1 |
serum/glucocorticoid regulated kinase 1 |
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ISO |
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RGD |
PMID:11994539 |
RGD:2289157 |
NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283
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G |
Smad1 |
SMAD family member 1 |
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ISO |
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RGD |
PMID:17967875 |
RGD:2299978 |
NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
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G |
Smad5 |
SMAD family member 5 |
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ISO |
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RGD |
PMID:17967875 |
RGD:2299978 |
NCBI chr17:7,862,332...7,891,678
Ensembl chr17:7,864,720...7,891,634
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G |
St14 |
ST14 transmembrane serine protease matriptase |
|
ISO |
protein:increased expression:ovary |
RGD |
PMID:16439987 |
RGD:2315091 |
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
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RGD |
PMID:19524286 |
RGD:2315463 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Wif1 |
Wnt inhibitory factor 1 |
|
ISO |
mRNA:increased expression:ovary |
RGD |
PMID:16488995 |
RGD:1643593 |
NCBI chr 7:56,548,060...56,618,364
Ensembl chr 7:56,548,053...56,618,360
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G |
Gnai2 |
G protein subunit alpha i2 |
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ISO |
ClinVar Annotator: match by term: Granulosa cell tumor of the ovary |
ClinVar |
PMID:2116665 |
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NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease |
ClinVar |
PMID:25741868 PMID:29625025 |
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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Smad4 |
SMAD family member 4 |
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ISO |
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: Myhre syndrome DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:7296942 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10398437 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11782434 PMID:11920286 PMID:11977156 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:16152648 PMID:16436638 PMID:16613914 PMID:17132729 PMID:17873119 PMID:17994767 PMID:18355998 PMID:18823382 PMID:20101697 PMID:20301642 PMID:21153778 PMID:21515830 PMID:21835029 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22703879 PMID:22748914 PMID:22810475 PMID:22843233 PMID:22875147 PMID:23239472 PMID:23399955 PMID:23559152 PMID:24033266 PMID:24398790 PMID:24424121 PMID:24465802 PMID:24465805 PMID:24580733 PMID:24715504 PMID:24728327 PMID:24841914 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25980754 PMID:26171675 PMID:26253951 PMID:26467025 PMID:26619011 PMID:26633542 PMID:26636501 PMID:26681312 PMID:26900293 PMID:26956206 PMID:26976419 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28002797 PMID:28135145 PMID:28196074 PMID:28283864 PMID:28406602 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29230941 PMID:29634562 PMID:29684080 PMID:30210120 PMID:30426508 PMID:30719162 PMID:30809044 PMID:30842500 PMID:30921096 PMID:30968316 PMID:31068090 PMID:31159747 PMID:31474762 PMID:31595668 PMID:31654632 PMID:31758407 PMID:31837202 PMID:32066632 PMID:32175297 PMID:32300199 PMID:32573726 PMID:33097490 PMID:33326750 PMID:33428109 PMID:33824467 PMID:34326862 PMID:35943490 PMID:36194927 PMID:38779990 PMID:22158539 More...
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RGD:12880042 |
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Prl |
prolactin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7878608 PMID:9334596 |
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NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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A1cf |
APOBEC1 complementation factor |
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ISO |
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:229,736,037...229,823,499
Ensembl chr 1:229,736,106...229,824,354
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Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcc3 |
ATP binding cassette subfamily C member 3 |
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ISO |
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 |
ClinVar |
PMID:38922859 |
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NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
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Abcg2 |
ATP binding cassette subfamily G member 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Abi3 |
ABI family, member 3 |
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ISO |
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 |
ClinVar |
PMID:38922859 |
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NCBI chr10:80,769,819...80,780,816
Ensembl chr10:80,769,822...80,780,816
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Abraxas1 |
abraxas 1, BRCA1 A complex subunit |
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ISO |
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32566746 |
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NCBI chr14:8,796,281...8,810,625
Ensembl chr14:8,796,266...8,810,622
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Acaca |
acetyl-CoA carboxylase alpha |
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ISO |
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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Acbd4 |
acyl-CoA binding domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 |
ClinVar |
PMID:38922859 |
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NCBI chr10:88,048,058...88,062,612
Ensembl chr10:88,048,108...88,058,500
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Acsf2 |
acyl-CoA synthetase family member 2 |
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ISO |
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 |
ClinVar |
PMID:38922859 |
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NCBI chr10:79,504,510...79,546,714
Ensembl chr10:79,504,511...79,546,673
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Adam11 |
ADAM metallopeptidase domain 11 |
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ISO |
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 |
ClinVar |
PMID:38922859 |
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NCBI chr10:87,724,115...87,742,773
Ensembl chr10:87,724,234...87,741,562
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Aim2 |
absent in melanoma 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:85,865,206...85,906,996
Ensembl chr13:85,866,284...85,906,975
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Akap1 |
A-kinase anchoring protein 1 |
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ISO |
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 |
ClinVar |
PMID:38922859 |
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NCBI chr10:73,621,021...73,654,123
Ensembl chr10:73,621,883...73,653,896
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Amh |
anti-Mullerian hormone |
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ISO |
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure |
ClinVar |
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NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282
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Amhr2 |
anti-Mullerian hormone receptor type 2 |
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ISO |
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure |
ClinVar |
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NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
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Ankfn1 |
ankyrin-repeat and fibronectin type III domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 |
ClinVar |
PMID:38922859 |
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NCBI chr10:74,214,143...74,602,825
Ensembl chr10:74,218,915...74,663,295
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Ankrd31 |
ankyrin repeat domain 31 |
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ISO |
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:28,079,187...28,241,722
Ensembl chr 2:28,092,882...28,241,719
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Ankrd40 |
ankyrin repeat domain 40 |
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ISO |
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 |
ClinVar |
PMID:38922859 |
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NCBI chr10:79,282,075...79,295,322
Ensembl chr10:79,282,075...79,295,320 Ensembl chr10:79,282,075...79,295,320
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Aopep |
aminopeptidase O |
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ISO |
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32566746 |
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NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331
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Arf2 |
ADP-ribosylation factor 2 |
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ISO |
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 |
ClinVar |
PMID:38922859 |
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NCBI chr10:88,867,836...88,889,654
Ensembl chr10:88,867,836...88,889,659
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Arhgap27 |
Rho GTPase activating protein 27 |
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ISO |
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 |
ClinVar |
PMID:38922859 |
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NCBI chr10:88,280,470...88,313,225
Ensembl chr10:88,280,455...88,313,185
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Arl4d |
ARF like GTPase 4D |
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ISO |
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 PMID:38922859 |
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NCBI chr10:86,592,054...86,602,843
Ensembl chr10:86,595,661...86,602,836
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Asb16 |
ankyrin repeat and SOCS box-containing 16 |
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ISO |
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 |
ClinVar |
PMID:38922859 |
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NCBI chr10:87,225,976...87,233,078
Ensembl chr10:87,225,912...87,233,078
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Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:100011 PMID:581456 PMID:988733 PMID:1160401 PMID:1739330 PMID:1849795 PMID:2557216 PMID:2677459 PMID:3217261 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755819 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9043869 PMID:9150358 PMID:9288106 PMID:9443866 PMID:9463314 PMID:9497252 PMID:9536098 PMID:9537233 PMID:9600235 PMID:9622061 PMID:9711876 PMID:9764584 PMID:9792409 PMID:9872980 PMID:9887333 PMID:9892178 PMID:10023947 PMID:10234507 PMID:10330348 PMID:10397742 PMID:10425038 PMID:10464642 PMID:10534763 PMID:10677309 PMID:10738255 PMID:10817650 PMID:10864201 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11078475 PMID:11173867 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11516106 PMID:11606401 PMID:11746755 PMID:11756177 PMID:11756185 PMID:11805335 PMID:11830610 PMID:11839094 PMID:11849780 PMID:11897820 PMID:11897822 PMID:11996792 PMID:12072552 PMID:12072877 PMID:12091354 PMID:12149228 PMID:12195425 PMID:12362033 PMID:12473594 PMID:12497634 PMID:12511424 PMID:12552559 PMID:12552566 PMID:12646636 PMID:12655570 PMID:12673794 PMID:12673797 PMID:12673804 PMID:12697903 PMID:12708462 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12882767 PMID:12917204 PMID:12935922 PMID:12935933 PMID:12969974 PMID:12970738 PMID:14562025 PMID:14586414 PMID:14628072 PMID:14643952 PMID:14695186 PMID:14695534 PMID:14695997 PMID:14706517 PMID:14735203 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15042666 PMID:15054841 PMID:15101044 PMID:15159313 PMID:15174027 PMID:15217508 PMID:15279808 PMID:15280931 PMID:15390180 PMID:15450731 PMID:15629612 PMID:15696190 PMID:15756685 PMID:15843990 PMID:15880680 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16035317 PMID:16167060 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16461462 PMID:16574953 PMID:16603769 PMID:16631465 PMID:16652348 PMID:16741161 PMID:16832357 PMID:16864838 PMID:16914028 PMID:16941484 PMID:16958054 PMID:16998505 PMID:17000706 PMID:17001622 PMID:17023046 PMID:17124347 PMID:17132159 PMID:17166884 PMID:17187232 PMID:17203191 PMID:17293864 PMID:17333338 PMID:17341484 PMID:17344846 PMID:17351744 PMID:17393301 PMID:17490827 PMID:17502119 PMID:17517479 PMID:17576681 PMID:17623063 PMID:17640065 PMID:17876757 PMID:17910737 PMID:17968022 PMID:18164969 PMID:18261794 PMID:18384426 PMID:18433505 PMID:18497957 PMID:18502988 PMID:18565893 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18701470 PMID:18807267 PMID:19018867 PMID:19081671 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19535770 PMID:19605768 PMID:19638463 PMID:19650357 PMID:19691550 PMID:19779456 PMID:19781682 PMID:19823873 PMID:20077034 PMID:20111735 PMID:20124459 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20308662 PMID:20346647 PMID:20544271 PMID:20678261 PMID:20826828 PMID:20840352 PMID:20927582 PMID:20981092 PMID:21354641 PMID:21396839 PMID:21445571 PMID:21447618 PMID:21459046 PMID:21514219 PMID:21665257 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21910157 PMID:21933854 PMID:21965147 PMID:22071889 PMID:22146522 PMID:22213089 PMID:22234840 PMID:22250480 PMID:22345219 PMID:22369572 PMID:22420423 PMID:22438227 PMID:22529920 PMID:22585167 PMID:22649200 PMID:22995991 PMID:23074045 PMID:23091097 PMID:23114601 PMID:23143971 PMID:23322442 PMID:23369113 PMID:23454770 PMID:23555315 PMID:23585524 PMID:23632773 PMID:23726790 PMID:23774824 PMID:23807571 PMID:23810757 PMID:23946315 PMID:24033266 PMID:24088041 PMID:24113346 PMID:24142997 PMID:24172824 PMID:24197801 PMID:24204193 PMID:24325359 PMID:24326041 PMID:24356096 PMID:24416720 PMID:24422204 PMID:24448499 PMID:24451234 PMID:24549055 PMID:24556621 PMID:24628946 PMID:24695838 PMID:24728327 PMID:24733792 PMID:24834793 PMID:24853695 PMID:24886963 PMID:24951259 PMID:24954719 PMID:24983367 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25085752 PMID:25101980 PMID:25117502 PMID:25122203 PMID:25148578 PMID:25182519 PMID:25186627 PMID:25257301 PMID:25318351 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25374739 PMID:25452441 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25572163 PMID:25587027 PMID:25589003 PMID:25614872 PMID:25625042 PMID:25741868 PMID:25741916 PMID:25742471 PMID:25749350 PMID:25862857 PMID:25882375 PMID:25892863 PMID:25914063 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26009992 PMID:26010451 PMID:26053404 PMID:26094658 PMID:26112015 PMID:26123645 PMID:26155992 PMID:26164066 PMID:26182300 PMID:26206375 PMID:26207792 PMID:26220245 PMID:26247737 PMID:26250988 PMID:26270727 PMID:26380989 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 PMID:26633545 PMID:26635394 PMID:26662178 PMID:26667234 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26757417 PMID:26771497 PMID:26774591 PMID:26787654 PMID:26822949 PMID:26837699 PMID:26854966 PMID:26896183 PMID:26898890 PMID:26901136 PMID:26911350 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27016235 PMID:27034805 PMID:27043212 PMID:27067391 PMID:27093186 PMID:27121310 PMID:27142713 PMID:27146902 PMID:27149842 PMID:27150160 PMID:27153395 PMID:27224988 PMID:27365426 PMID:27375234 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27460089 PMID:27468087 PMID:27479817 PMID:27484032 PMID:27528516 PMID:27568332 PMID:27595995 PMID:27599564 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27692705 PMID:27720647 PMID:27782108 PMID:27798748 PMID:27803004 PMID:27873105 PMID:27878467 PMID:27884168 PMID:27913932 PMID:27959900 PMID:27978560 PMID:27988859 PMID:27989354 PMID:27994516 PMID:28007021 PMID:28008555 PMID:28093192 PMID:28093616 PMID:28126470 PMID:28135145 PMID:28152038 PMID:28170084 PMID:28195393 PMID:28196074 PMID:28202063 PMID:28259476 PMID:28423360 PMID:28451460 PMID:28492532 PMID:28503720 PMID:28569743 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28652578 PMID:28717660 PMID:28726808 PMID:28743247 PMID:28767289 PMID:28779002 PMID:28828701 PMID:28830922 PMID:28843361 PMID:28873162 PMID:28888541 PMID:28975465 PMID:29036293 PMID:29059438 PMID:29360161 PMID:29360550 PMID:29371908 PMID:29445900 PMID:29458332 PMID:29470806 PMID:29478780 PMID:29482223 PMID:29485843 PMID:29506128 PMID:29522266 PMID:29596542 PMID:29600275 PMID:29625052 PMID:29641532 PMID:29642553 PMID:29659569 PMID:29665859 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29752822 PMID:29758562 PMID:29778231 PMID:29905759 PMID:29909963 PMID:29915322 PMID:29915382 PMID:29922827 PMID:29945567 PMID:29961768 PMID:30067863 PMID:30093976 PMID:30128536 PMID:30181556 PMID:30197789 PMID:30233647 PMID:30256826 PMID:30267214 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30338439 PMID:30339652 PMID:30363071 PMID:30374176 PMID:30413523 PMID:30425284 PMID:30426508 PMID:30447919 PMID:30504431 PMID:30541756 PMID:30549301 PMID:30553997 PMID:30579816 PMID:30613976 PMID:30639167 PMID:30651582 PMID:30666157 PMID:30772474 PMID:30814645 PMID:30819809 PMID:30836094 PMID:30851086 PMID:30883245 PMID:30938815 PMID:30957677 PMID:30982232 PMID:30995915 PMID:31050087 PMID:31054420 PMID:31125277 PMID:31159747 PMID:31160347 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31216378 PMID:31227566 PMID:31248605 PMID:31263571 PMID:31285527 PMID:31350202 PMID:31360874 PMID:31382929 PMID:31407689 PMID:31415627 PMID:31422574 PMID:31428572 PMID:31429931 PMID:31432501 PMID:31447099 PMID:31589614 PMID:31611883 PMID:31638252 PMID:31666926 PMID:31719806 PMID:31741144 PMID:31742824 PMID:31776720 PMID:31780696 PMID:31784482 PMID:31811167 PMID:31815095 PMID:31843900 PMID:31867841 PMID:31871109 PMID:31874108 PMID:31882575 PMID:31920950 PMID:31942411 PMID:31948886 PMID:32019284 PMID:32039725 PMID:32052936 PMID:32068069 PMID:32091409 PMID:32113160 PMID:32125938 PMID:32172615 PMID:32183301 PMID:32183364 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32318955 PMID:32325837 PMID:32338768 PMID:32371905 PMID:32427313 PMID:32522261 PMID:32566746 PMID:32601921 PMID:32658311 PMID:32659497 PMID:32748564 PMID:32756499 PMID:32782288 PMID:32832836 PMID:32853339 PMID:32854451 PMID:32860008 PMID:32866190 PMID:32866655 PMID:32875559 PMID:32885271 PMID:32906206 PMID:32918381 PMID:32957588 PMID:32958592 PMID:32980694 PMID:32986223 PMID:33050356 PMID:33095795 PMID:33098801 PMID:33128190 PMID:33134171 PMID:33163394 PMID:33168809 PMID:33181636 PMID:33191115 PMID:33206719 PMID:33240400 PMID:33280026 PMID:33302456 PMID:33309985 PMID:33330270 PMID:33359728 PMID:33395407 PMID:33402103 PMID:33415580 PMID:33421217 PMID:33436325 PMID:33439686 PMID:33471191 PMID:33471991 PMID:33509806 PMID:33544757 PMID:33547824 PMID:33552952 PMID:33558524 PMID:33588785 PMID:33606809 PMID:33630411 PMID:33646313 PMID:33747920 PMID:33850299 PMID:33875564 PMID:33919281 PMID:33939675 PMID:33980423 PMID:34009545 PMID:34107524 PMID:34117267 PMID:34130653 PMID:34199532 PMID:34204722 PMID:34250389 PMID:34250417 PMID:34262154 PMID:34271781 PMID:34284872 PMID:34299313 PMID:34326862 PMID:34337741 PMID:34359559 PMID:34426522 PMID:34445196 PMID:34570441 PMID:34573280 PMID:34606182 PMID:34646395 PMID:34653963 PMID:34680878 PMID:34755017 PMID:34761457 PMID:34994613 PMID:35029067 PMID:35039564 PMID:35047863 PMID:35078243 PMID:35085662 PMID:35098669 PMID:35146455 PMID:35154108 PMID:35171259 PMID:35245693 PMID:35257272 PMID:35264596 PMID:35273153 PMID:35312250 PMID:35365198 PMID:35451682 PMID:35467778 PMID:35495172 PMID:35534218 PMID:35534704 PMID:35666082 PMID:35708139 PMID:35716007 PMID:35717579 PMID:35734982 PMID:35763645 PMID:35886069 PMID:35892882 PMID:35893033 PMID:35980532 PMID:36029002 PMID:36167400 PMID:36200007 PMID:36243179 PMID:36315919 PMID:36521553 PMID:36555667 PMID:36568162 PMID:36627197 PMID:36674612 PMID:36685941 PMID:36704080 PMID:36898365 PMID:36988593 PMID:37088804 PMID:37091313 PMID:37097610 PMID:37262986 PMID:37306523 PMID:37436117 PMID:37529773 PMID:37762649 PMID:38017116 PMID:38028594 More...
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Atp5mc1 |
ATP synthase membrane subunit c locus 1 |
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ISO |
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 |
ClinVar |
PMID:38922859 |
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NCBI chr10:81,024,056...81,026,780
Ensembl chr10:81,023,925...81,027,124 Ensembl chr10:81,023,925...81,027,124
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G |
Atxn7l3 |
ataxin 7-like 3 |
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ISO |
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 |
ClinVar |
PMID:38922859 |
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NCBI chr10:87,242,843...87,250,186
Ensembl chr10:87,243,587...87,250,620
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G |
B4galnt2 |
beta-1,4-N-acetyl-galactosaminyl transferase 2 |
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ISO |
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 |
ClinVar |
PMID:38922859 |
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NCBI chr10:80,801,594...80,828,005
Ensembl chr10:80,802,941...80,857,700
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G |
Bard1 |
BRCA1 associated RING domain 1 |
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ISO |
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:1584056 PMID:2936742 PMID:9425226 PMID:9536098 PMID:11807980 PMID:12832489 PMID:14550946 PMID:15342711 PMID:15855157 PMID:15855896 PMID:16061562 PMID:16199547 PMID:16333312 PMID:16633366 PMID:16741161 PMID:16768547 PMID:16825437 PMID:17333333 PMID:17550235 PMID:17576681 PMID:17848578 PMID:17972171 PMID:18089818 PMID:18480049 PMID:18481171 PMID:19139070 PMID:19197335 PMID:19412175 PMID:19584272 PMID:20077502 PMID:20842729 PMID:21344236 PMID:21393566 PMID:22006311 PMID:23056176 PMID:23334666 PMID:23680151 PMID:24033266 PMID:24123366 PMID:24454733 PMID:24463508 PMID:25085752 PMID:25186627 PMID:25288723 PMID:25318351 PMID:25326637 PMID:25330149 PMID:25452441 PMID:25741868 PMID:25980754 PMID:25994375 PMID:26010302 PMID:26075229 PMID:26307947 PMID:26315354 PMID:26329992 PMID:26350354 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26546047 PMID:26556299 PMID:26681312 PMID:26689913 PMID:26720728 PMID:26738429 PMID:26787654 PMID:26898890 PMID:26976419 PMID:26979391 PMID:26979419 PMID:27009842 PMID:27083178 PMID:27153395 PMID:27328445 PMID:27443514 PMID:27498913 PMID:27621404 PMID:27720647 PMID:27742771 PMID:27878467 PMID:27913932 PMID:27978560 PMID:27997549 PMID:28008555 PMID:28050010 PMID:28135145 PMID:28174632 PMID:28486781 PMID:28492532 PMID:28640387 PMID:28709830 PMID:28724667 PMID:28821472 PMID:28873162 PMID:28888541 PMID:28912018 PMID:29292755 PMID:29338689 PMID:29367421 PMID:29625052 PMID:29641532 PMID:29700634 PMID:29752822 PMID:29769598 PMID:29785153 PMID:29790872 PMID:29905759 PMID:29922827 PMID:30322717 PMID:30374176 PMID:30441849 PMID:30781715 PMID:30925164 PMID:30947698 PMID:30982232 PMID:31036035 PMID:31159747 PMID:31275557 PMID:31341520 PMID:31371347 PMID:31666926 PMID:31843900 PMID:31871109 PMID:32039725 PMID:32068069 PMID:32295079 PMID:32427313 PMID:32566746 PMID:32658311 PMID:32679805 PMID:32726901 PMID:32832836 PMID:32854451 PMID:32866190 PMID:32885271 PMID:32959997 PMID:32980694 PMID:33309985 PMID:33471991 PMID:33479248 PMID:33498765 PMID:33552952 PMID:33598691 PMID:33606809 PMID:33809641 PMID:34034685 PMID:34196900 PMID:34250417 PMID:34326862 PMID:34646395 PMID:34680878 PMID:34754157 PMID:34906988 PMID:35264596 PMID:35595798 PMID:35734982 PMID:35768576 PMID:35957908 PMID:36988593 PMID:37239058 PMID:37563628 More...
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NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265
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G |
Bcar1 |
BCAR1 scaffold protein, Cas family member |
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ISO |
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:39,679,215...39,713,907
Ensembl chr19:39,679,204...39,713,907
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G |
Bcl2l1 |
Bcl2-like 1 |
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ISO |
ClinVar Annotator: match by term: Breast and/or ovarian cancer |
ClinVar |
PMID:25741868 |
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NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
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G |
Birc6 |
baculoviral IAP repeat-containing 6 |
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ISO |
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434
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G |
Blm |
BLM RecQ like helicase |
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ISO |
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:7585968 PMID:9536098 PMID:16199547 PMID:17407155 PMID:17576681 PMID:23129629 PMID:23292937 PMID:23960188 PMID:24728327 PMID:24816114 PMID:25653542 PMID:25741868 PMID:26467025 PMID:26503572 PMID:26788541 PMID:28492532 PMID:28724667 PMID:28944238 PMID:29338689 PMID:29641532 PMID:30214240 PMID:30840646 PMID:31118792 PMID:31360874 PMID:32107087 PMID:32566746 PMID:32868804 PMID:35273153 PMID:35314707 More...
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NCBI chr 1:134,409,832...134,496,073
Ensembl chr 1:134,409,857...134,484,312
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G |
Bmp15 |
bone morphogenetic protein 15 |
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ISO |
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure |
ClinVar |
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NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
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G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
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ISO |
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:18356561 PMID:19555857 PMID:20002458 PMID:20534176 PMID:21737554 PMID:25741868 PMID:26387786 PMID:28492532 PMID:32368696 PMID:36675162 More...
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NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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G |
Brca1 |
BRCA1, DNA repair associated |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome |
CTD ClinVar OMIM |
PMID:20 PMID:122156 PMID:125827 PMID:145597 PMID:202008 PMID:236858 PMID:275598 PMID:591403 PMID:734551 PMID:824983 PMID:953609 PMID:1157798 PMID:1245799 PMID:1474686 PMID:1514655 PMID:1673748 PMID:1882470 PMID:2010458 PMID:2144777 PMID:2152033 PMID:2152385 PMID:2173504 PMID:2206311 PMID:2246425 PMID:2316185 PMID:2482513 PMID:2504116 PMID:2505045 PMID:2618727 PMID:2668991 PMID:2975282 PMID:3175448 PMID:3347199 PMID:6455195 PMID:6681312 PMID:6848529 PMID:6852015 PMID:7221156 PMID:7257965 PMID:7493024 PMID:7545954 PMID:7581445 PMID:7606717 PMID:7611277 PMID:7627958 PMID:7663517 PMID:7680524 PMID:7791869 PMID:7795652 PMID:7837387 PMID:7894491 PMID:7894492 PMID:7894493 PMID:7939630 PMID:8460636 PMID:8460646 PMID:8531967 PMID:8531968 PMID:8533757 PMID:8554067 PMID:8571953 PMID:8595420 PMID:8595428 PMID:8602198 PMID:8606385 PMID:8622478 PMID:8644702 PMID:8644703 PMID:8644752 PMID:8651293 PMID:8723683 PMID:8751436 PMID:8755943 PMID:8764110 PMID:8776600 PMID:8807330 PMID:8808710 PMID:8833256 PMID:8840964 PMID:8841191 PMID:8872468 PMID:8875986 PMID:8880569 PMID:8933332 PMID:8942979 PMID:8944023 PMID:8956054 PMID:8968102 PMID:8968716 PMID:8972225 PMID:8990217 PMID:9010228 PMID:9041180 PMID:9042907 PMID:9042909 PMID:9063749 PMID:9143931 PMID:9145676 PMID:9145677 PMID:9145678 PMID:9150148 PMID:9150149 PMID:9150151 PMID:9150153 PMID:9150154 PMID:9150171 PMID:9150174 PMID:9159158 PMID:9167459 PMID:9192828 PMID:9197534 PMID:9200354 PMID:9254884 PMID:9274454 PMID:9285788 PMID:9291911 PMID:9326340 PMID:9333265 PMID:9354803 PMID:9361038 PMID:9362443 PMID:9369211 PMID:9391879 PMID:9406579 PMID:9429140 PMID:9440731 PMID:9452076 PMID:9452084 PMID:9482581 PMID:9497265 PMID:9510469 PMID:9523200 PMID:9525870 PMID:9528852 PMID:9536098 PMID:9544765 PMID:9544766 PMID:9563465 PMID:9585599 PMID:9585608 PMID:9585617 PMID:9609997 PMID:9616287 PMID:9625424 PMID:9634504 PMID:9643283 PMID:9649133 PMID:9663595 PMID:9664122 PMID:9665150 PMID:9667259 PMID:9667663 PMID:9677103 PMID:9699523 PMID:9699640 PMID:9714446 PMID:9715372 PMID:9738006 PMID:9746028 PMID:9760198 PMID:9788557 PMID:9792861 PMID:9796975 PMID:9799248 PMID:9805131 PMID:9808526 PMID:9816013 PMID:9836072 PMID:9836472 PMID:9840533 PMID:9915971 PMID:9927062 PMID:10090482 PMID:10090881 PMID:10188893 PMID:10196379 PMID:10200350 PMID:10227398 PMID:10323242 PMID:10326698 PMID:10340909 PMID:10359546 PMID:10371344 PMID:10389907 PMID:10406662 PMID:10408690 PMID:10417303 PMID:10422801 PMID:10435598 PMID:10435628 PMID:10441573 PMID:10447273 PMID:10453741 PMID:10459348 PMID:10464601 PMID:10464609 PMID:10464624 PMID:10464631 PMID:10469836 PMID:10479726 PMID:10480351 PMID:10480358 PMID:10486320 PMID:10498392 PMID:10502781 PMID:10505028 PMID:10508480 PMID:10528853 PMID:10550055 PMID:10571952 PMID:10595255 PMID:10595257 PMID:10612800 PMID:10612827 PMID:10615237 PMID:10634513 PMID:10635334 PMID:10644434 PMID:10660329 PMID:10667592 PMID:10667595 PMID:10682662 PMID:10682686 PMID:10686936 PMID:10699917 PMID:10717622 PMID:10728699 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