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: Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency | ClinVar Annotator: match by term: Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency | ClinVar Annotator: match by term: Isolated 17,20-lyase deficiency |
ClinVar |
PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 PMID:2786493 PMID:2843762 PMID:6976525 PMID:7629254 PMID:8550762 PMID:9177409 PMID:9326943 PMID:9435441 PMID:9601054 PMID:9892022 PMID:10720067 PMID:11422109 PMID:11549685 PMID:11836339 PMID:12466376 PMID:14671162 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15713706 PMID:15811924 PMID:15844475 PMID:16121340 PMID:16569739 PMID:16772352 PMID:16849412 PMID:17192295 PMID:17379008 PMID:20197673 PMID:21340157 PMID:21340163 PMID:21846181 PMID:22309630 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:25741868 PMID:26543560 PMID:26845730 PMID:27426448 PMID:28008861 PMID:28492532 PMID:28870780 PMID:29595516 PMID:29858860 PMID:33753170 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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Hsd17b3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
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ISO |
ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:598011 PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9467575 PMID:9536098 PMID:9709959 PMID:9758445 PMID:10599740 PMID:11158067 PMID:17509588 PMID:17576681 PMID:19498320 PMID:21214500 PMID:22212252 PMID:23295294 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25526675 PMID:25740850 PMID:25741868 PMID:28492532 PMID:30668521 PMID:32297288 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 |
ClinVar Annotator: match by term: 3MC syndrome 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 |
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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:20301524 PMID:20525296 PMID:20592910 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: Ovarian dysgenesis |
ClinVar RGD |
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: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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Amhr2 |
anti-Mullerian hormone receptor type 2 |
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ISO |
ClinVar Annotator: match by term: Male pseudohermaphroditism |
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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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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Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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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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:28492532 |
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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 |
ClinVar Annotator: match by term: 46,XY disorder of sex development |
ClinVar |
PMID:8353496 PMID:25741868 PMID:29378242 |
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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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Sox9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: 46,XX sex reversal 2 |
OMIM ClinVar |
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: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: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 |
ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy |
OMIM 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:11549642 PMID:25741868 PMID:27899157 |
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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 |
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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:7718558 PMID:7985018 PMID:7987333 PMID:8019555 PMID:8105086 PMID:8257986 PMID:8353496 PMID:9150734 PMID:9443877 PMID:9450909 PMID:9521592 PMID:10843173 PMID:10852465 PMID:12107262 PMID:12409269 PMID:12793612 PMID:20528776 PMID:25741868 PMID:28492532 PMID:28787711 More...
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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 |
OMIM ClinVar |
PMID:567843 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 |
OMIM ClinVar |
PMID:9486644 |
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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:22011241 PMID:24033266 PMID:25741868 PMID:26014430 PMID:26490186 PMID:26997702 PMID:27899157 PMID:28492532 PMID:29368431 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 |
OMIM ClinVar |
PMID:11932325 PMID:15070943 PMID:15472171 PMID:15579739 PMID:17200175 PMID:17694559 PMID:18414213 PMID:19246354 PMID:22028768 PMID:22907560 PMID:23154282 PMID:25122490 PMID:25326637 PMID:25383892 PMID:25741868 PMID:26523528 PMID:27169744 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27855412 PMID:27899157 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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Zfpm2 |
zinc finger protein, multitype 2 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 3 |
ClinVar |
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25741868 PMID:28492532 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 |
ClinVar Annotator: match by term: 46,XY sex reversal 5 |
OMIM 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 sex reversal 6 |
OMIM ClinVar |
PMID:5419329 PMID:11242112 PMID:12476449 PMID:21129722 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28504475 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 |
ClinVar Annotator: match by term: 46,XY sex reversal 7 |
OMIM 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 |
OMIM ClinVar |
PMID:4352099 PMID:21802064 PMID:25741868 |
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NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
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Zfpm2 |
zinc finger protein, multitype 2 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 9 |
OMIM ClinVar |
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25741868 PMID:28166811 PMID:28492532 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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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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Bmpr1b |
bone morphogenetic protein receptor type 1B |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 PMID:26105076 PMID:28492532 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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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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:295036 PMID:1196451 PMID:1363812 PMID:1825279 PMID:2755580 PMID:4539073 PMID:7633460 PMID:8060486 PMID:8185809 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:14966389 PMID:16648810 PMID:17689071 PMID:18252794 PMID:22343390 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:30668521 PMID:31006099 PMID:31611844 PMID:34055358 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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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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Ar |
androgen receptor |
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ISO IEP |
ClinVar Annotator: match by term: Androgen resistance syndrome 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 Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:1158706 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1458719 PMID:1480178 PMID:1508223 PMID:1569163 PMID:1598912 PMID:1609793 PMID:1720929 PMID:1750490 PMID:1775137 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:7641413 PMID:7671849 PMID:7723794 PMID:7910529 PMID:7970939 PMID:7981687 PMID:7981689 PMID:8033918 PMID:8040309 PMID:8096390 PMID:8097257 PMID:8126121 PMID:8162033 PMID:8281139 PMID:8325932 PMID:8339746 PMID:8413310 PMID:8450040 PMID:8450042 PMID:8626869 PMID:8647313 PMID:8723113 PMID:8809734 PMID:8823308 PMID:8824883 PMID:8990010 PMID:9007482 PMID:9039340 PMID:9196614 PMID:9328206 PMID:9360511 PMID:9536098 PMID:9543136 PMID:9544375 PMID:9576916 PMID:9627582 PMID:9698822 PMID:9768671 PMID:9788719 PMID:9851768 PMID:9856504 PMID:10022458 PMID:10092153 PMID:10221770 PMID:10323251 PMID:10323385 PMID:10359561 PMID:10425033 PMID:10458483 PMID:10571951 PMID:10690872 PMID:10834333 PMID:10840043 PMID:11181525 PMID:11225909 PMID:11376111 PMID:11397856 PMID:11549642 PMID:11579211 PMID:11587068 PMID:11744994 PMID:11788616 PMID:11788645 PMID:11788673 PMID:11889162 PMID:12068007 PMID:12213902 PMID:12466388 PMID:12705360 PMID:12843171 PMID:14974091 PMID:15266301 PMID:15531547 PMID:15541764 PMID:15925895 PMID:15963062 PMID:16083860 PMID:16199547 PMID:16283146 PMID:16365032 PMID:16373394 PMID:16450583 PMID:17054461 PMID:17161333 PMID:17576681 PMID:17937062 PMID:18710728 PMID:19463997 PMID:20007693 PMID:20011049 PMID:20150575 PMID:20493947 PMID:20671138 PMID:21520333 PMID:21730179 PMID:21962961 PMID:22334387 PMID:22412043 PMID:22995991 PMID:23106833 PMID:23774508 PMID:24033266 PMID:24186138 PMID:24321103 PMID:24737579 PMID:24790346 PMID:25241384 PMID:25248670 PMID:25326637 PMID:25433660 PMID:25613104 PMID:25674389 PMID:25741868 PMID:26303084 PMID:26688387 PMID:26778393 PMID:26806084 PMID:26813233 PMID:26980296 PMID:27267075 PMID:27403927 PMID:27583472 PMID:27854360 PMID:27899157 PMID:28186600 PMID:28261839 PMID:28456808 PMID:28492532 PMID:28624954 PMID:28857053 PMID:29051026 PMID:29785970 PMID:30064134 PMID:30316867 PMID:30599484 PMID:30668521 PMID:31012339 PMID:31373714 PMID:31429517 PMID:31499074 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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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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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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Dhx37 |
DEAH-box helicase 37 |
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ISO |
ClinVar Annotator: match by term: Testicular regression syndrome |
OMIM ClinVar |
PMID:25741868 PMID:31287541 PMID:31337883 |
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NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802
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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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Ar |
androgen receptor |
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ISO |
ClinVar Annotator: match by term: Gynecomastia, familial |
ClinVar |
PMID:16804045 |
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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 |
ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome CTD Direct Evidence: marker/mechanism |
OMIM 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:23329769 PMID:25088806 PMID:25301327 PMID:25415177 PMID:25741868 PMID:27086564 PMID:27256151 PMID:27693882 PMID:28492532 More...
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NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
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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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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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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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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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Cpe |
carboxypeptidase E |
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ISO |
ClinVar Annotator: match by term: BDV SYNDROME | ClinVar Annotator: match by term: BLAKEMORE-DURMAZ-VASILEIOU SYNDROME |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:34383079 |
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NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233
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Foxl2 |
forkhead box L2 |
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ISO |
CTD Direct Evidence: marker/mechanism 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:18372316 PMID:20429427 PMID:21889601 PMID:25741868 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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Phf6 |
PHD finger protein 6 |
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ISO |
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS |
OMIM ClinVar |
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 PMID:18414213 PMID:23906836 PMID:24728327 PMID:25741868 PMID:25741869 PMID:27633282 PMID:28492532 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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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 |
OMIM ClinVar |
PMID:3963113 PMID:8053762 PMID:9321767 PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25033069 PMID:25267340 PMID:25299038 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29248984 PMID:30555943 PMID:31135245 PMID:33141049 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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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:15806394 PMID:25741868 PMID:26633542 PMID:28492532 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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Kiss1r |
KISS1 receptor |
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ISO |
ClinVar Annotator: match by term: Precocious puberty, central, 1 |
OMIM ClinVar |
PMID:17164310 PMID:18272894 PMID:23349759 PMID:25741868 PMID:28492532 |
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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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Mkrn3 |
makorin, ring finger protein, 3 |
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ISO |
ClinVar Annotator: match by term: Precocious puberty, central, 2 |
OMIM ClinVar |
PMID:23738509 PMID:25741868 PMID:26431553 PMID:28672280 |
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NCBI chr 1:115,926,774...115,929,286
Ensembl chr 1:115,926,776...115,929,283
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Hhat |
hedgehog acyltransferase |
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ISO |
ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome |
OMIM ClinVar |
PMID:24784881 PMID:30912300 |
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NCBI chr13:104,024,507...104,283,581
Ensembl chr13:104,010,916...104,282,893
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Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:28492532 |
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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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Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 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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Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:23349334 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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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...151,636,000
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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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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Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
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ISS ISO |
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110 ClinVar Annotator: match by term: Congenital adrenal hyperplasia |
MouseDO ClinVar |
PMID:8506298 PMID:9302260 PMID:9546661 PMID:12452430 PMID:15026188 PMID:15062555 PMID:16046588 PMID:16670167 PMID:17371482 PMID:20089618 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26053152 PMID:26467025 PMID:26476331 PMID:26956189 PMID:27316665 PMID:28492532 PMID:29626607 PMID:33785438 PMID:33830237 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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Cyp11b3 |
cytochrome P450, family 11, subfamily b, polypeptide 3 |
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ISS |
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110 |
MouseDO |
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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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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:8396144 PMID:9326943 PMID:9601054 PMID:11549685 PMID:12466376 PMID:14715827 PMID:14747197 PMID:18645707 PMID:19636199 PMID:25741868 PMID:28492532 PMID:31636948 PMID:33864926 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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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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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:7633460 PMID:8060486 PMID:10599696 PMID:10651755 PMID:10656999 PMID:10770215 PMID:10973654 PMID:11196452 PMID:12050224 PMID:18252794 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30668521 PMID:34055358 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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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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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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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:14758361 PMID:15220035 PMID:15350602 PMID:15793702 PMID:17635179 PMID:18551037 PMID:18559916 PMID:18930113 PMID:19837910 PMID:22162478 PMID:22462747 PMID:23365120 PMID:27068427 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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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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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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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:10215405 PMID:10323391 PMID:10486704 PMID:10566637 PMID:10700722 PMID:11061515 PMID:11279152 PMID:11509019 PMID:12725533 PMID:14764819 PMID:15347444 PMID:15546900 PMID:15666846 PMID:15985476 PMID:16103714 PMID:16118340 PMID:16199547 PMID:16968793 PMID:17301050 PMID:18729825 PMID:19245813 PMID:19773404 PMID:20444910 PMID:21164258 PMID:21647419 PMID:21846663 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: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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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: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: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:32647925 PMID:32714392 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33710594 PMID:33715135 PMID:34540367 More...
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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: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency |
OMIM ClinVar |
PMID:1430088 PMID:2022736 PMID:3295546 PMID:7049883 PMID:7903314 PMID:8506298 PMID:8768848 PMID:8964882 PMID:8989319 PMID:9302260 PMID:9435454 PMID:9536098 PMID:9546661 PMID:10487675 PMID:11095433 PMID:11549691 PMID:12452430 PMID:12966519 PMID:15026188 PMID:15062555 PMID:15324322 PMID:15751602 PMID:15755848 PMID:15807871 PMID:16030166 PMID:16046588 PMID:16199547 PMID:16670167 PMID:16984984 PMID:17121536 PMID:17296872 PMID:17371482 PMID:17576681 PMID:17692261 PMID:17726333 PMID:18663314 PMID:19204079 PMID:19820005 PMID:20024693 PMID:20089618 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:27376426 PMID:27376433 PMID:27821898 PMID:28228528 PMID:28492532 PMID:28962970 PMID:29626607 PMID:29858860 PMID:31006099 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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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 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
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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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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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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: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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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:9215318 PMID:9378109 PMID:10408786 PMID:10496074 PMID:10720040 PMID:10908170 PMID:11220701 PMID:12220458 PMID:12384784 PMID:14513879 PMID:14715874 PMID:15110320 PMID:15858147 PMID:16788163 PMID:17119906 PMID:17164306 PMID:19204079 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: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:32647925 PMID:32714392 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33710594 PMID:33715135 PMID:34540367 More...
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Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: ADRENAL HYPERPLASIA V | ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5 |
OMIM ClinVar |
PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2786493 PMID:2843762 PMID:8245018 PMID:8287576 PMID:8550762 PMID:9326943 PMID:9601054 PMID:9892022 PMID:10720067 PMID:10877510 PMID:11243732 PMID:11549685 PMID:11549876 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715827 PMID:14747197 PMID:15844475 PMID:16121340 PMID:16199547 PMID:16477341 PMID:16569739 PMID:16772352 PMID:16849412 PMID:17192295 PMID:17379008 PMID:18422032 PMID:19470621 PMID:19636199 PMID:19728179 PMID:20170344 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:25741868 PMID:26467025 PMID:26543560 PMID:26770544 PMID:26845730 PMID:26980296 PMID:27426448 PMID:27959413 PMID:28008861 PMID:28492532 PMID:29278670 PMID:29595516 PMID:29858860 PMID:30229581 PMID:33753170 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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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 |
OMIM ClinVar |
PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 PMID:18182448 PMID:19116240 PMID:21159840 PMID:21880796 PMID:24033266 PMID:25741868 PMID:26300845 PMID:27008691 PMID:28492532 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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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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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: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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Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
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ISO |
ClinVar Annotator: match by term: Cortisone reductase deficiency 2 |
OMIM 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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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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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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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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Atrx |
ATRX, chromatin remodeler |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cryptorchidism |
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
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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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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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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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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 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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G |
Insl3 |
insulin-like 3 |
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ISO |
idiopathic cryptorchidism, OMIM:219050 ClinVar Annotator: match by term: Cryptorchidism CTD Direct Evidence: marker/mechanism |
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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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: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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Mefv |
MEFV innate immuity regulator, pyrin |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 PMID:11464248 PMID:14612366 PMID:15643295 PMID:15942916 PMID:16498449 PMID:16785446 PMID:16889173 PMID:18353061 PMID:19790133 PMID:20008920 PMID:20041150 PMID:20828792 PMID:21290976 PMID:22037353 PMID:22337722 PMID:22903357 PMID:23010357 PMID:23070486 PMID:23164758 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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Mfsd2a |
major facilitator superfamily domain containing 2A |
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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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Msx1 |
msh homeobox 1 |
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IEP |
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RGD |
PMID:18222913 |
RGD:5132606 |
NCBI chr14:72,961,170...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 |
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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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 chr13:62,164,080...62,169,770
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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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 ISS |
bilateral cryptorchidism, OMIM:219050 ClinVar Annotator: match by term: Cryptorchidism |
MouseDO ClinVar RGD |
PMID:12217959 PMID:12970298 PMID:20636340 PMID:12217959 |
RGD:1600187 |
NCBI chr12:4,925,722...4,986,596
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: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 |
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 |
PMID:25741868 PMID:28492532 PMID:30564332 |
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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 |
Tuba1a |
tubulin, alpha 1A |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
PMID:18954413 PMID:25741868 PMID:28492532 PMID:30744660 PMID:32581362 |
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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:22279524 PMID:23035047 PMID:28492532 |
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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 |
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency DNA:mutations:multiple (human) |
ClinVar 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:22507161 PMID:22864515 PMID:23100014 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:24602372 PMID:25741868 PMID:25882080 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27243974 PMID:27290639 PMID:27528516 PMID:27650058 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28649525 PMID:28830375 PMID:28973083 PMID:30396834 PMID:31455392 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 |
ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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:31501894 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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Anos1 |
anosmin 1 |
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ISO |
ClinVar Annotator: match by term: Delayed puberty |
ClinVar |
PMID:8504298 PMID:11297579 PMID:23643382 PMID:25636053 PMID:28492532 |
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NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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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 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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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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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 |
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NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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Gnrhr |
gonadotropin releasing hormone receptor |
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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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Igfals |
insulin-like growth factor binding protein, acid labile subunit |
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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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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 chr16:2,228,467...2,295,126
Ensembl chr16:2,228,287...2,292,556
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Kiss1 |
KiSS-1 metastasis-suppressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21527035 |
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NCBI chr13:44,774,823...44,780,707
Ensembl chr13:44,774,823...44,780,612
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Kiss1r |
KISS1 receptor |
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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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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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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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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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Tac3 |
tachykinin precursor 3 |
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ISO |
ClinVar Annotator: match by term: Delayed puberty |
ClinVar |
PMID:25636053 PMID:28492532 |
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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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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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Lgr4 |
leucine-rich repeat-containing G protein-coupled receptor 4 |
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ISO |
ClinVar Annotator: match by term: DELAYED PUBERTY, SELF-LIMITED |
ClinVar OMIM |
PMID:32493844 |
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NCBI chr 3:96,447,385...96,550,006
Ensembl chr 3:96,447,858...96,548,899
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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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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 3:92,718,047...92,896,696
Ensembl chr 3:92,718,047...92,896,542
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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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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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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...92,450,557
Ensembl chr 3:92,385,379...92,452,313
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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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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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Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar OMIM RGD |
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1350671 PMID:1655284 PMID:1658787 PMID:1671709 PMID:5665984 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 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:9817285 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10571943 PMID:10603123 PMID:10762296 PMID:11182928 PMID:11241055 PMID:11278460 PMID:11322369 PMID:11738793 PMID:12024052 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:15957141 PMID:16199547 PMID:16717397 PMID:16932893 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17630404 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18385267 PMID:18559874 PMID:18591546 PMID:18618575 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:20595692 PMID:21125408 PMID:21384108 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22465478 PMID:22703879 PMID:22876585 PMID:23117548 PMID:23295293 PMID:23349334 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:25501161 PMID:25720465 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26358501 PMID:26467025 PMID:26661695 PMID:26725263 PMID:27013732 PMID:27124303 PMID:27241786 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28334862 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29668062 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31937884 PMID:32352694 PMID:32581362 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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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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Lmna |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome |
OMIM ClinVar |
PMID:2007407 PMID:10587585 PMID:10612827 PMID:10655060 PMID:10739751 PMID:10810087 PMID:10868844 PMID:10999791 PMID:10999845 PMID:11015599 PMID:11078466 PMID:11136544 PMID:11792809 PMID:12524233 PMID:12647844 PMID:12927424 PMID:12927431 PMID:16181372 PMID:16364671 PMID:16415042 PMID:17150192 PMID:17893350 PMID:18414213 PMID:18728124 PMID:19011997 PMID:19201734 PMID:19283854 PMID:19418082 PMID:19427440 PMID:19859838 PMID:20130076 PMID:20625965 PMID:20709679 PMID:22224630 PMID:22266370 PMID:22464770 PMID:22700598 PMID:23183350 PMID:23313286 PMID:23427149 PMID:23853504 PMID:23977161 PMID:24033266 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24846508 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26662654 PMID:27532257 PMID:27585670 PMID:27723096 PMID:28492532 PMID:28641778 PMID:28663758 PMID:28679633 PMID:29149195 PMID:29237675 PMID:30165862 PMID:30402260 PMID:30528549 PMID:30847666 PMID:30871747 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31829210 PMID:31836692 PMID:32041611 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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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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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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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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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...8,909,184
Ensembl chr 7:8,906,836...8,909,282
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Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
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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Cbx2 |
chromobox 2 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
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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Ccdc141 |
coiled-coil domain containing 141 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
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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Dhh |
desert hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
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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Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
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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Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
PMID:25741868 PMID:28492532 |
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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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Flrt3 |
fibronectin leucine rich transmembrane protein 3 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
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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Foxp1 |
forkhead box P1 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
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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Frem2 |
FRAS1 related extracellular matrix 2 |
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ISO |
ClinVar Annotator: match by term: Ambiguous genitalia |
ClinVar |
PMID:25741868 |
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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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Ghrhr |
growth hormone releasing hormone receptor |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr 4:84,498,159...84,532,847
Ensembl chr 4:84,500,212...84,532,776
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Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
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Gli3 |
GLI family zinc finger 3 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
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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Gprc6a |
G protein-coupled receptor, class C, group 6, member A |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
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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Hsd17b3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development 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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Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
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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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Macrod2 |
mono-ADP ribosylhydrolase 2 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
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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Magel2 |
MAGE family member L2 |
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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 1:115,880,137...115,884,680
Ensembl chr 1:115,880,474...115,884,250
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Map3k1 |
mitogen-activated protein kinase kinase kinase 1 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
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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Myrf |
myelin regulatory factor |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
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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Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
PMID:28492532 |
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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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Plxna3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
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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Por |
cytochrome p450 oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
PMID:25741868 |
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NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Prok2 |
prokineticin 2 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
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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Prop1 |
PROP paired-like homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
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 sex development |
ClinVar |
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NCBI chr12:4,925,722...4,986,596
Ensembl chr12:4,925,722...4,986,596
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Sox4 |
SRY-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
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 sex development |
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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Tbce |
tubulin folding cofactor E |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
PMID:25741868 PMID:28492532 |
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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 sex development |
ClinVar |
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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 sex development |
ClinVar |
PMID:23349334 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 |
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 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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G |
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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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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Angpt1 |
angiopoietin 1 |
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ISO |
protein:increased expression:endometrium epithelium |
RGD |
PMID:17295646 |
RGD:2293852 |
NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
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G |
Angpt2 |
angiopoietin 2 |
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ISO |
protein:increased expression:endometrium epithelium |
RGD |
PMID:17295646 |
RGD:2293852 |
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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G |
Arid1a |
AT-rich interaction domain 1A |
treatment |
ISO |
human cell in mouse model |
RGD |
PMID:21900401 |
RGD:126725086 |
NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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G |
Axin2 |
axin 2 |
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ISO |
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RGD |
PMID:11940574 |
RGD:13432156 |
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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G |
Bet1l |
Bet1 golgi vesicular membrane trafficking protein-like |
disease_progression |
ISO |
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RGD |
PMID:28654152 |
RGD:14394612 |
NCBI chr 1:195,930,165...195,935,072
Ensembl chr 1:195,931,411...195,935,040
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G |
Cd55 |
CD55 molecule (Cromer blood group) |
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ISO |
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RGD |
PMID:11506079 |
RGD:2326173 |
NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831
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G |
Ebag9 |
estrogen receptor binding site associated, antigen, 9 |
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ISO |
protein:increased expression:endometrium |
RGD |
PMID:16112719 |
RGD:2289850 |
NCBI chr 7:75,810,950...75,828,902
Ensembl chr 7:75,810,594...75,861,248
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G |
Foxo3 |
forkhead box O3 |
severity |
ISO |
associated with Obesity;protein:decreased expression:endometrium (human) |
RGD |
PMID:26045339 |
RGD:11530998 |
NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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G |
Gpx3 |
glutathione peroxidase 3 |
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IEP |
mRNA:decreased expression:endometrium (rat) |
RGD |
PMID:19426485 |
RGD:2312621 |
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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G |
Irf1 |
interferon regulatory factor 1 |
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IAGP |
DNA:deletions (rat) |
RGD |
PMID:19075038 |
RGD:5128782 |
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
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G |
Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
no_association |
ISO |
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RGD |
PMID:10684716 |
RGD:2290482 |
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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G |
Kras |
KRAS proto-oncogene, GTPase |
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IAGP |
DNA:point mutation:CDS:p.G12D, p.G12S, p.Q61H (rat) |
RGD |
PMID:10775052 |
RGD:1600499 |
NCBI chr 4:178,185,418...178,218,484
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G |
Mapk1 |
mitogen activated protein kinase 1 |
treatment |
ISO |
human tumor in a mouse model protein:decreased phosphorylation:endometrium (human) |
RGD |
PMID:23402905 PMID:14760076 |
RGD:13703125, RGD:13703137 |
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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G |
Mapk3 |
mitogen activated protein kinase 3 |
treatment |
ISO |
human tumor in a mouse model protein:decreased phosphorylation:endometrium (human) |
RGD |
PMID:23402905 PMID:14760076 |
RGD:13703125, RGD:13703137 |
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:21478295 |
RGD:13441595 |
NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
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G |
Pten |
phosphatase and tensin homolog |
ameliorates |
ISO |
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RGD |
PMID:32843721 |
RGD:127285600 |
NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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G |
Ptges |
prostaglandin E synthase |
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ISO |
protein:increased expression:endometrium |
RGD |
PMID:11592775 |
RGD:2300089 |
NCBI chr 3:14,177,892...14,189,236
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G |
Rrm2 |
ribonucleotide reductase regulatory subunit M2 |
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IAGP |
DNA:amplification (rat) |
RGD |
PMID:15942940 |
RGD:2324953 |
NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773
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G |
Tgfbr3 |
transforming growth factor beta receptor 3 |
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ISO |
mRNA:decreased expression:endometrium |
RGD |
PMID:15745937 |
RGD:1579943 |
NCBI chr14:2,489,397...2,665,383
Ensembl chr14:2,489,397...2,663,341
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G |
Tp53 |
tumor protein p53 |
disease_progression |
ISO |
DNA:missense mutations protein:increased expression:endometrium |
RGD |
PMID:1540970 PMID:1540970 |
RGD:2290541, RGD:2290541 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Tsg101 |
tumor susceptibility 101 |
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ISO |
mRNA:alternative forms |
RGD |
PMID:10027311 |
RGD:2291854 |
NCBI chr 1:97,412,689...97,442,589
Ensembl chr 1:97,410,848...97,442,554
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G |
Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Endometrial serous adenocarcinoma |
ClinVar |
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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 |
Brca2 |
BRCA2, DNA repair associated |
susceptibility |
ISO |
DNA:deletion: :6174delT |
RGD |
PMID:16650962 |
RGD:2289045 |
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation |
ClinVar |
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 More...
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NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO |
DNA:hypermethylation: (human) |
RGD |
PMID:18570730 |
RGD:13432144 |
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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G |
Areg |
amphiregulin |
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ISO |
mRNA, protein:increased expression:endometrium |
RGD |
PMID:16962163 |
RGD:2289950 |
NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
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G |
Atp7b |
ATPase copper transporting beta |
disease_progression |
ISO |
protein:increased expression:endometrium |
RGD |
PMID:15790435 |
RGD:2298864 |
NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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G |
Birc5 |
baculoviral IAP repeat-containing 5 |
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ISO |
protein:increased expression:endometrium |
RGD |
PMID:16803539 |
RGD:2298940 |
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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G |
Bmp4 |
bone morphogenetic protein 4 |
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ISO |
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RGD |
PMID:12782598 |
RGD:2296026 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
Car9 |
carbonic anhydrase 9 |
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ISO |
protein:altered localization:membrane, endometrium |
RGD |
PMID:17452774 |
RGD:2298945 |
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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G |
Ccne1 |
cyclin E1 |
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ISO |
protein:increased expression:endometrium |
RGD |
PMID:17483252 |
RGD:2289230 |
NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
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G |
Cdh1 |
cadherin 1 |
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ISO |
protein:decreased expression:endometrium |
RGD |
PMID:18295959 |
RGD:2296045 |
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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G |
Cdk2 |
cyclin dependent kinase 2 |
severity |
ISO |
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RGD |
PMID:9673386 |
RGD:2298990 |
NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403
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G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
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ISO |
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RGD |
PMID:17985331 |
RGD:2299091 |
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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G |
Chek2 |
checkpoint kinase 2 |
susceptibility |
ISO |
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RGD |
PMID:17164260 |
RGD:2293868 |
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
DNA:mutations |
RGD |
PMID:17418409 |
RGD:2289817 |
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Daxx |
death-domain associated protein |
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ISO |
protein:increased expression:ovary: |
RGD |
PMID:23539629 |
RGD:9587820 |
NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
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G |
Dnmt1 |
DNA methyltransferase 1 |
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ISO |
mRNA,protein:increased expression:uterus: |
RGD |
PMID:15721400 |
RGD:9588596 |
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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G |
Dnmt3b |
DNA methyltransferase 3 beta |
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ISO |
mRNA,protein:increased expression:uterus: |
RGD |
PMID:15721400 |
RGD:9588596 |
NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
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G |
Egfr |
epidermal growth factor receptor |
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ISO |
mRNA:decreased expression:endometrium ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation |
ClinVar RGD |
PMID:22885469 PMID:16962163 |
RGD:2289950 |
NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Eno2 |
enolase 2 |
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ISO |
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RGD |
PMID:18156975 |
RGD:2293737 |
NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
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RGD |
PMID:16962163 |
RGD:2289950 |
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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G |
Erbb3 |
erb-b2 receptor tyrosine kinase 3 |
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ISO |
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RGD |
PMID:16962163 |
RGD:2289950 |
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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G |
Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
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ISO |
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RGD |
PMID:16962163 |
RGD:2289950 |
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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G |
Esr1 |
estrogen receptor 1 |
severity |
ISO |
protein:increased phosphorylation |
RGD |
PMID:14559803 |
RGD:4105451 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation |
ClinVar RGD |
PMID:7719344 PMID:8651276 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15975938 PMID:16440883 PMID:17525745 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:23908597 PMID:24016645 PMID:24489893 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570 PMID:17525745 More...
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RGD:2289862 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
disease_progression |
ISO |
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RGD |
PMID:17952116 |
RGD:2301465 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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G |
Inha |
inhibin subunit alpha |
|
ISO |
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RGD |
PMID:17143484 |
RGD:2290368 |
NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
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G |
Inhba |
inhibin subunit beta A |
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ISO |
protein:decreased expression:endometrium |
RGD |
PMID:16423381 |
RGD:2301688 |
NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
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G |
Kdr |
kinase insert domain receptor |
severity |
ISO |
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RGD |
PMID:16557278 |
RGD:2291929 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
associated with Ovarian Neoplasms |
RGD |
PMID:19542870 |
RGD:2314910 |
NCBI chr 4:178,185,418...178,218,484
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G |
Lnpep |
leucyl and cystinyl aminopeptidase |
|
ISO |
associated with Endometrial Neoplasms |
RGD |
PMID:15218296 |
RGD:2314922 |
NCBI chr 1:58,258,642...58,355,532
Ensembl chr 1:58,258,642...58,354,544
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G |
Mapk1 |
mitogen activated protein kinase 1 |
treatment |
ISO |
|
RGD |
PMID:24917306 |
RGD:13441559 |
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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G |
Mapk3 |
mitogen activated protein kinase 3 |
treatment |
ISO |
|
RGD |
PMID:24917306 |
RGD:13441559 |
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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G |
Msln |
mesothelin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14576474 |
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NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
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G |
Nkx2-1 |
NK2 homeobox 1 |
|
ISO |
DNA:hypermethylation |
RGD |
PMID:17504987 |
RGD:2290483 |
NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
|
ISO |
protein:decreased expression:ovary |
RGD |
PMID:15791568 |
RGD:2298578 |
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
|
ISO |
protein:increased expression:ovary |
RGD |
PMID:15791568 |
RGD:2298578 |
NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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G |
Pik3r2 |
phosphoinositide-3-kinase regulatory subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation |
ClinVar |
PMID:21984976 |
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NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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G |
Pole |
DNA polymerase epsilon, catalytic subunit |
ameliorates |
ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:29505428 |
RGD:151347648 |
NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
DNA:mutations: :multiple DNA:loss of heterozygosity, mutations:multiple (human) |
RGD |
PMID:17418409 PMID:11156411 |
RGD:2289817, RGD:12802357 |
NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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G |
Spp1 |
secreted phosphoprotein 1 |
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ISO |
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RGD |
PMID:16633066 |
RGD:1581360 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
St14 |
ST14 transmembrane serine protease matriptase |
|
ISO |
associated with Ovarian Neoplasms;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 |
Wif1 |
Wnt inhibitory factor 1 |
|
ISO |
mRNA:increased expression:ovary |
RGD |
PMID:16436637 |
RGD:2298535 |
NCBI chr 7:56,548,058...56,618,364
Ensembl chr 7:56,548,053...56,618,360
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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:7527413 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:10084607 PMID:11134146 PMID:11391350 PMID:11849253 PMID:16123233 PMID:16684832 PMID:16887451 PMID:17030087 PMID:17055147 PMID:17055151 PMID:18345393 PMID:19209621 PMID:21490077 PMID:23686864 PMID:23861372 PMID:25741868 PMID:25741869 PMID:26040673 PMID:26467025 PMID:26831561 PMID:27532428 PMID:28492532 PMID:30283825 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 |
Rad51c |
RAD51 paralog C |
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ISO |
ClinVar Annotator: match by term: Familial ovarian carcinoma |
ClinVar |
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 |
OMIM ClinVar |
PMID:1302008 PMID:1658787 PMID:7795587 PMID:8388765 PMID:9108089 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:10094551 PMID:10571943 PMID:10762296 PMID:11241055 PMID:11738793 PMID:12050205 PMID:12471221 PMID:15150775 PMID:15483024 PMID:17576681 PMID:17694336 PMID:18618575 PMID:19205749 PMID:19221039 PMID:19484379 PMID:20442690 PMID:20595692 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:23117548 PMID:23295293 PMID:23349334 PMID:23515051 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25741868 PMID:25818337 PMID:26467025 PMID:27719739 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29668062 PMID:30406062 PMID:30655312 PMID:32352694 PMID:32581362 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 |
OMIM ClinVar |
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 |
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 |
Ppp2r3c |
protein phosphatase 2, regulatory subunit B'', gamma |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy |
OMIM ClinVar |
PMID:25741868 PMID:30893644 |
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NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
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G |
Prorp |
protein only RNase P catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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G |
Rnf216 |
ring finger protein 216 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome |
OMIM ClinVar |
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 |
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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...8,909,184
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...101,452,361
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 |
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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 |
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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 |
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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 chr13:62,164,080...62,169,770
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 7:56,548,058...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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G |
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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G |
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 | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | 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:8898652 PMID:9536098 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:17576681 PMID:17873119 PMID:17994767 PMID:18355998 PMID:18823382 PMID:20101697 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: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:26253951 PMID:26467025 PMID:26619011 PMID:26633542 PMID:26636501 PMID:26681312 PMID:26976419 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27562837 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28135145 PMID:28196074 PMID:28406602 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29684080 PMID:30426508 PMID:30719162 PMID:30809044 PMID:30842500 PMID:30968316 PMID:31159747 PMID:31474762 PMID:31595668 PMID:31654632 PMID:31758407 PMID:31837202 PMID:32066632 PMID:32300199 PMID:32573726 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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G |
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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G |
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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G |
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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G |
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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G |
Abraxas1 |
abraxas 1, BRCA1 A complex subunit |
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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 chr14:8,796,281...8,810,625
Ensembl chr14:8,796,266...8,810,622
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G |
Acaca |
acetyl-CoA carboxylase alpha |
|
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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G |
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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G |
Amh |
anti-Mullerian hormone |
|
ISO |
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure |
ClinVar |
|
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NCBI chr 7:8,906,776...8,909,184
Ensembl chr 7:8,906,836...8,909,282
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G |
Amhr2 |
anti-Mullerian hormone receptor type 2 |
|
ISO |
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
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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G |
Ankrd31 |
ankyrin repeat domain 31 |
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ISO |
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure |
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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G |
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 chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331
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G |
Arl4d |
ADP-ribosylation factor like GTPase 4D |
|
ISO |
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 |
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NCBI chr10:86,592,054...86,602,843
Ensembl chr10:86,595,661...86,602,836
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G |
Atm |
ATM serine/threonine kinase |
|
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: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:2677459 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8665503 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: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:11805335 PMID:11830610 PMID:11839094 PMID:11849780 PMID:11897820 PMID:11897822 PMID:11996792 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:12810666 PMID:12815592 PMID:12882767 PMID:12917204 PMID:12935922 PMID:12935933 PMID:12969974 PMID:14562025 PMID:14586414 PMID:14643952 PMID:14695186 PMID:14695997 PMID:14735203 PMID:14970866 PMID:15039971 PMID:15042666 PMID:15054841 PMID:15101044 PMID:15159313 PMID:15217508 PMID:15280931 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:16631465 PMID:16652348 PMID:16741161 PMID:16832357 PMID:16914028 PMID:16941484 PMID:16958054 PMID:16998505 PMID:17023046 PMID:17124347 PMID:17132159 PMID:17187232 PMID:17203191 PMID:17293864 PMID:17333338 PMID:17341484 PMID:17344846 PMID:17351744 PMID:17393301 PMID:17490827 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:18634022 PMID:18701470 PMID:18807267 PMID:19081671 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19535770 PMID:19638463 PMID:19691550 PMID:19781682 PMID:20077034 PMID:20111735 PMID:20124459 PMID:20232390 PMID:20305132 PMID:20308662 PMID:20544271 PMID:20678261 PMID:20826828 PMID:20840352 PMID:20927582 PMID:20981092 PMID:21396839 PMID:21445571 PMID:21459046 PMID:21514219 PMID:21665257 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21933854 PMID:21965147 PMID:22071889 PMID:22146522 PMID:22213089 PMID:22250480 PMID:22369572 PMID:22420423 PMID:22438227 PMID:22529920 PMID:22585167 PMID:22649200 PMID:22995991 PMID:23074045 PMID:23091097 PMID:23114601 PMID:23322442 PMID:23369113 PMID:23454770 PMID:23555315 PMID:23585524 PMID:23774824 PMID:23807571 PMID:23810757 PMID:24033266 PMID:24113346 PMID:24142997 PMID:24172824 PMID:24197801 PMID:24204193 PMID:24326041 PMID:24416720 PMID:24451234 PMID:24549055 PMID:24556621 PMID:24695838 PMID:24728327 PMID:24834793 PMID:24886963 PMID:24954719 PMID:25040471 PMID:25077176 PMID:25117502 PMID:25122203 PMID:25148578 PMID:25182519 PMID:25186627 PMID:25257301 PMID:25318351 PMID:25356970 PMID:25374739 PMID:25479140 PMID:25480502 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25587027 PMID:25589003 PMID:25614872 PMID:25625042 PMID:25741868 PMID:25749350 PMID:25862857 PMID:25938944 PMID:25980754 PMID:26009992 PMID:26010451 PMID:26053404 PMID:26094658 PMID:26112015 PMID:26123645 PMID:26155992 PMID:26164066 PMID:26206375 PMID:26207792 PMID:26220245 PMID:26250988 PMID:26380989 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26556299 PMID:26580448 PMID:26628246 PMID:26635394 PMID:26667234 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26757417 PMID:26774591 PMID:26787654 PMID:26822949 PMID:26837699 PMID:26854966 PMID:26898890 PMID:26901136 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27016235 PMID:27034805 PMID:27043212 PMID:27067391 PMID:27093186 PMID:27146902 PMID:27150160 PMID:27153395 PMID:27375234 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27460089 PMID:27484032 PMID:27568332 PMID:27599564 PMID:27621404 PMID:27664052 PMID:27720647 PMID:27782108 PMID:27803004 PMID:27873105 PMID:27878467 PMID:27913932 PMID:27959900 PMID:27978560 PMID:27989354 PMID:28093192 PMID:28135145 PMID:28170084 PMID:28195393 PMID:28196074 PMID:28202063 PMID:28259476 PMID:28451460 PMID:28492532 PMID:28503720 PMID:28591191 PMID:28608266 PMID:28652578 PMID:28717660 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28843361 PMID:28873162 PMID:28975465 PMID:29036293 PMID:29059438 PMID:29360161 PMID:29371908 PMID:29458332 PMID:29470806 PMID:29482223 PMID:29522266 PMID:29641532 PMID:29642553 PMID:29659569 PMID:29678143 PMID:29684080 PMID:29778231 PMID:29909963 PMID:30067863 PMID:30197789 PMID:30233647 PMID:30256826 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30309722 PMID:30374176 PMID:30447919 PMID:30541756 PMID:30549301 PMID:30553997 PMID:30819809 PMID:30851086 PMID:30995915 PMID:31050087 PMID:31159747 PMID:31160347 PMID:31206626 PMID:31214711 PMID:31227566 PMID:31415627 PMID:31422574 PMID:31428572 PMID:31429931 PMID:31447099 PMID:31666926 PMID:31719806 PMID:31742824 PMID:31780696 PMID:31811167 PMID:31867841 PMID:31871109 PMID:31920950 PMID:31942411 PMID:31948886 PMID:32039725 PMID:32068069 PMID:32183364 PMID:32295079 PMID:32338768 PMID:32566746 PMID:32601921 PMID:32659497 PMID:32853339 PMID:32866190 PMID:32958592 PMID:32986223 PMID:33095795 PMID:33128190 PMID:33134171 PMID:33181636 PMID:33280026 PMID:33309985 PMID:33421217 PMID:33436325 PMID:33471991 PMID:33606809 PMID:33630411 PMID:33747920 PMID:33850299 PMID:34204722 More...
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|
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
|
|
G |
Bard1 |
BRCA1 associated RING domain 1 |
|
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, 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 |
PMID:9425226 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:17848578 PMID:17972171 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:24454733 PMID:25186627 PMID:25318351 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:26546047 PMID:26556299 PMID:26681312 PMID:26720728 PMID:26738429 PMID:26787654 PMID:26976419 PMID:26979419 PMID:27083178 PMID:27153395 PMID:27443514 PMID:27621404 PMID:27978560 PMID:28008555 PMID:28050010 PMID:28174632 PMID:28492532 PMID:28709830 PMID:28724667 PMID:29292755 PMID:29700634 PMID:29769598 PMID:29790872 PMID:29905759 PMID:29922827 PMID:30322717 PMID:30374176 PMID:30441849 PMID:30925164 PMID:31036035 PMID:31341520 PMID:31371347 PMID:31843900 PMID:31871109 PMID:32039725 PMID:32295079 PMID:32566746 PMID:32726901 PMID:32832836 PMID:33471991 PMID:33552952 More...
|
|
NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265
|
|
G |
Bcar1 |
BCAR1 scaffold protein, Cas family member |
|
ISO |
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:39,679,218...39,713,952
Ensembl chr19:39,679,204...39,713,907
|
|
G |
Bcl2l1 |
Bcl2-like 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
|
|
G |
Birc6 |
baculoviral IAP repeat-containing 6 |
|
ISO |
ClinVar Annotator: match by term: Breast and/or ovarian cancer |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434
|
|
G |
Blm |
BLM RecQ like helicase |
|
ISO |
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome |
ClinVar |
PMID:7585968 PMID:17407155 PMID:23129629 PMID:23292937 PMID:24728327 PMID:24816114 PMID:25653542 PMID:25741868 PMID:26467025 PMID:26503572 PMID:26788541 PMID:28492532 PMID:29338689 PMID:30214240 PMID:30840646 PMID:32566746 More...
|
|
NCBI chr 1:134,409,832...134,496,073
Ensembl chr 1:134,409,857...134,484,312
|
|
G |
Bmp15 |
bone morphogenetic protein 15 |
|
ISO |
ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure |
ClinVar |
|
|
NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
|
|
G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
|
ISO |
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:26387786 PMID:28492532 More...
|
|
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
|
|
G |
Brca1 |
BRCA1, DNA repair associated |
|
ISO |
CTD Direct Evidence: marker/mechanism 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 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:125827 PMID:824983 PMID:953609 PMID:1157798 PMID:1245799 PMID:1514655 PMID:1673748 PMID:2010458 PMID:2144777 PMID:2152385 PMID:2206311 PMID:2246425 PMID:2504116 PMID:2505045 PMID:2618727 PMID:3175448 PMID:6455195 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: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:9042907 PMID:9042909 PMID:9063749 PMID:9143931 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:9254884 PMID:9274454 PMID:9285788 PMID:9291911 PMID:9326340 PMID:9333265 PMID:9354803 PMID:9361038 PMID:9362443 PMID:9391879 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:9585599 PMID:9585608 PMID:9585617 PMID:9609997 PMID:9616287 PMID:9625424 PMID:9649133 PMID:9663595 PMID:9664122 PMID:9665150 PMID:9667259 PMID:9667663 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:9915971 PMID:9927062 PMID:10090482 PMID:10090881 PMID:10188893 PMID:10196379 PMID:10200350 PMID:10227398 PMID:10323242 PMID:10340909 PMID:10359546 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:10464631 PMID:10469836 PMID:10479726 PMID:10480351 PMID:10480358 PMID:10486320 PMID:10498392 PMID:10502781 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:10667592 PMID:10667595 PMID:10682662 PMID:10682686 PMID:10686936 PMID:10699917 PMID:10717622 PMID:10728699 PMID:10728701 PMID:10737987 PMID:10755399 PMID:10788334 PMID:10790221 PMID:10800284 PMID:10804288 PMID:10811118 PMID:10815905 PMID:10827109 PMID:10851077 PMID:10862036 PMID:10866028 PMID:10866029 PMID:10874312 PMID:10880552 PMID:10882858 PMID:10918303 PMID:10918394 PMID:10923033 PMID:10946236 PMID:10951344 PMID:10952774 PMID:10952777 PMID:10978226 PMID:10980541 PMID:10984458 PMID:11013445 PMID:11015464 PMID:11016938 PMID:11030417 PMID:11030418 PMID:11039575 PMID:11044354 PMID:11058900 PMID:11059339 PMID:11084537 PMID:11102978 PMID:11102986 PMID:11106241 PMID:11109172 PMID:11118466 PMID:11137998 PMID:11139249 PMID:11149413 PMID:11149425 PMID:11157798 PMID:11179017 PMID:11180604 PMID:11183185 PMID:11240689 PMID:11250694 PMID:11256609 PMID:11263928 PMID:11278247 PMID:11304778 PMID:11320250 PMID:11334729 PMID:11336395 PMID:11359908 PMID:11376024 PMID:11385711 PMID:11389159 PMID:11391658 PMID:11400546 PMID:11410501 PMID:11410514 PMID:11424920 PMID:11428389 PMID:11431698 PMID:11436123 PMID:11437933 PMID:11462239 PMID:11462242 PMID:11463009 PMID:11466700 PMID:11493753 PMID:11504767 PMID:11506493 PMID:11526114 PMID:11556835 PMID:11573085 PMID:11573086 PMID:11576847 PMID:11595708 PMID:11597388 PMID:11606101 PMID:11698567 PMID:11710835 PMID:11710890 PMID:11720839 PMID:11733976 PMID:11739404 PMID:11748305 PMID:11748848 PMID:11773283 PMID:11781691 PMID:11793480 PMID:11802208 PMID:11802209 PMID:11810084 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PMID:28651617 PMID:28664449 PMID:28664506 PMID:28678739 PMID:28680148 PMID:28691938 PMID:28692638 PMID:28715532 PMID:28717660 PMID:28717669 PMID:28724667 PMID:28726806 PMID:28726808 PMID:28740454 PMID:28767289 PMID:28771233 PMID:28781887 PMID:28782058 PMID:28802053 PMID:28828701 PMID:28831036 PMID:28873162 PMID:28888541 PMID:28900739 PMID:28905878 PMID:28918466 PMID:28944232 PMID:28947987 PMID:28961279 PMID:28970858 PMID:28975465 PMID:28985766 PMID:28993434 PMID:29020660 PMID:29020732 PMID:29021639 PMID:29021971 PMID:29036293 PMID:29053726 PMID:29061375 PMID:29086229 PMID:29088781 PMID:29093764 PMID:29113215 PMID:29116469 PMID:29133208 PMID:29137355 PMID:29156836 PMID:29161300 PMID:29168416 PMID:29176636 PMID:29192238 PMID:29202330 PMID:29215753 PMID:29233532 PMID:29240602 PMID:29254167 PMID:29255180 PMID:29261187 PMID:29263802 PMID:29271107 PMID:29280214 PMID:29297111 PMID:29309945 PMID:29310340 PMID:29310832 PMID:29312738 PMID:29335924 PMID:29335925 PMID:29337092 PMID:29339979 PMID:29346284 PMID:29348823 PMID:29360161 PMID:29360550 PMID:29368341 PMID:29371908 PMID:29409476 PMID:29422015 PMID:29433453 PMID:29435039 PMID:29435075 PMID:29440709 PMID:29446198 PMID:29452958 PMID:29453630 PMID:29458332 PMID:29467240 PMID:29470806 PMID:29478780 PMID:29483665 PMID:29486991 PMID:29487695 PMID:29492181 PMID:29506128 PMID:29565420 PMID:29566657 PMID:29580235 PMID:29582426 PMID:29614442 PMID:29625052 PMID:29667044 PMID:29673794 PMID:29681614 PMID:29684080 PMID:29687286 PMID:29712865 PMID:29731985 PMID:29750258 PMID:29752822 PMID:29755871 PMID:29770616 PMID:29774201 PMID:29785135 PMID:29785153 PMID:29797126 PMID:29805665 PMID:29852322 PMID:29868112 PMID:29884136 PMID:29884841 PMID:29907814 PMID:29922827 PMID:29928469 PMID:29936257 PMID:29937436 PMID:29963112 PMID:29997359 PMID:29998185 PMID:30014164 PMID:30039884 PMID:30040829 PMID:30054569 PMID:30055521 PMID:30067863 PMID:30078507 PMID:30093976 PMID:30101128 PMID:30103829 PMID:30105462 PMID:30111351 PMID:30113427 PMID:30128899 PMID:30130155 PMID:30152102 PMID:30159786 PMID:30175445 PMID:30199306 PMID:30203341 PMID:30204945 PMID:30207098 PMID:30209299 PMID:30209399 PMID:30212499 PMID:30214756 PMID:30219179 PMID:30225334 PMID:30254663 PMID:30257646 PMID:30257991 PMID:30262796 PMID:30263092 PMID:30263132 PMID:30264118 PMID:30266954 PMID:30283497 PMID:30287823 PMID:30309222 PMID:30315757 PMID:30322717 PMID:30333958 PMID:30339520 PMID:30350268 PMID:30374176 PMID:30400234 PMID:30415210 PMID:30425037 PMID:30430080 PMID:30441849 PMID:30458859 PMID:30472649 PMID:30474649 PMID:30487145 PMID:30535581 PMID:30542053 PMID:30555256 PMID:30564348 PMID:30584090 PMID:30586678 PMID:30603682 PMID:30606148 PMID:30613976 PMID:30617304 PMID:30623411 PMID:30630526 PMID:30630528 PMID:30646163 PMID:30651582 PMID:30652428 PMID:30666157 PMID:30675319 PMID:30678073 PMID:30696104 PMID:30702160 PMID:30715675 PMID:30720243 PMID:30720863 PMID:30725392 PMID:30728895 PMID:30730459 PMID:30736279 PMID:30765603 PMID:30787465 PMID:30825404 PMID:30832263 PMID:30840646 PMID:30850667 PMID:30875412 PMID:30883245 PMID:30940100 PMID:30962250 PMID:30968603 PMID:30972954 PMID:30982232 PMID:31013702 PMID:31064392 PMID:31065452 PMID:31090900 PMID:31112341 PMID:31112363 PMID:31125277 PMID:31131967 PMID:31141992 PMID:31143303 PMID:31144781 PMID:31159747 PMID:31161121 PMID:31173646 PMID:31174498 PMID:31209999 PMID:31248605 PMID:31263571 PMID:31265121 PMID:31294896 PMID:31300551 PMID:31336956 PMID:31341520 PMID:31343793 PMID:31347298 PMID:31360874 PMID:31409081 PMID:31411802 PMID:31415627 PMID:31422574 PMID:31432501 PMID:31447071 PMID:31447099 PMID:31451522 PMID:31454914 PMID:31464824 PMID:31467430 PMID:31467961 PMID:31472684 PMID:31476386 PMID:31477031 PMID:31481248 PMID:31483290 PMID:31488070 PMID:31528241 PMID:31683985 PMID:31706072 PMID:31742824 PMID:31771539 PMID:31780705 PMID:31815095 PMID:31825140 PMID:31843900 PMID:31853058 PMID:31867841 PMID:31869745 PMID:31871109 PMID:31897316 PMID:31907386 PMID:31911673 PMID:31921681 PMID:31937788 PMID:31954625 PMID:31959133 PMID:32008151 PMID:32068069 PMID:32072338 PMID:32092317 PMID:32123317 PMID:32125938 PMID:32195105 PMID:32231684 PMID:32234730 PMID:32257056 PMID:32284662 PMID:32295079 PMID:32341426 PMID:32356124 PMID:32375709 PMID:32380732 PMID:32420470 PMID:32427313 PMID:32429029 PMID:32438681 PMID:32455662 PMID:32467295 PMID:32486089 PMID:32495382 PMID:32546644 PMID:32599251 PMID:32658311 PMID:32719484 PMID:32772980 PMID:32806537 PMID:32812259 PMID:32856854 PMID:32866190 PMID:33010199 PMID:33067490 PMID:33067557 PMID:33078592 PMID:33084842 PMID:33087888 PMID:33098347 PMID:33113089 PMID:33206196 PMID:33233347 PMID:33309985 PMID:33413596 PMID:33428613 PMID:33471991 PMID:33526602 PMID:33552952 PMID:33558524 PMID:33573335 PMID:33606355 PMID:33630411 PMID:33850299 PMID:33875564 PMID:33875706 PMID:33948387 PMID:34063308 PMID:34271787 PMID:34290354 PMID:34301763 PMID:34453642 PMID:117470134 PMID:207276720 PMID:213324516 PMID:255556971 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 |
Brca2 |
BRCA2, DNA repair associated |
|
ISO |
CTD Direct Evidence: marker/mechanism 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: 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-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | 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: 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 |
CTD ClinVar OMIM |
PMID:1 PMID:1234 PMID:234495 PMID:1169856 PMID:1232165 PMID:1843150 PMID:1990134 PMID:2010458 PMID:2928257 PMID:3108138 PMID:3146935 PMID:3413277 PMID:4055113 PMID:6295337 PMID:7924331 PMID:8075631 PMID:8415037 PMID:8524414 PMID:8589730 PMID:8640235 PMID:8665505 PMID:8673089 PMID:8673090 PMID:8673091 PMID:8673092 PMID:8705994 PMID:8706004 PMID:8758903 PMID:8840963 PMID:8841191 PMID:8841192 PMID:8896551 PMID:8968085 PMID:8988179 PMID:9012404 PMID:9042907 PMID:9042909 PMID:9126734 PMID:9133456 PMID:9145676 PMID:9145678 PMID:9150150 PMID:9150152 PMID:9150154 PMID:9150155 PMID:9150172 PMID:9150174 PMID:9167459 PMID:9228974 PMID:9361038 PMID:9400938 PMID:9405383 PMID:9429140 PMID:9536098 PMID:9537231 PMID:9537232 PMID:9579822 PMID:9585608 PMID:9585613 PMID:9585617 PMID:9609997 PMID:9634522 PMID:9643283 PMID:9654203 PMID:9667259 PMID:9758598 PMID:9760198 PMID:9761393 PMID:9766673 PMID:9771877 PMID:9792861 PMID:9836472 PMID:9840533 PMID:9971877 PMID:10070953 PMID:10188893 PMID:10227398 PMID:10323242 PMID:10359546 PMID:10373512 PMID:10399947 PMID:10417300 PMID:10433620 PMID:10449599 PMID:10453741 PMID:10464609 PMID:10464631 PMID:10486320 PMID:10498392 PMID:10505028 PMID:10506595 PMID:10550133 PMID:10551859 PMID:10570174 PMID:10595255 PMID:10615237 PMID:10638982 PMID:10644434 PMID:10660329 PMID:10682686 PMID:10690392 PMID:10699917 PMID:10717622 PMID:10728701 PMID:10755399 PMID:10788334 PMID:10790213 PMID:10800284 PMID:10807692 PMID:10815905 PMID:10874312 PMID:10882858 PMID:10899649 PMID:10923033 PMID:10952777 PMID:10969800 PMID:10978364 PMID:10980621 PMID:10995809 PMID:11030417 PMID:11030418 PMID:11039575 PMID:11044354 PMID:11044644 PMID:11056688 PMID:11062481 PMID:11091690 PMID:11102977 PMID:11102978 PMID:11106241 PMID:11106360 PMID:11139248 PMID:11139249 PMID:11149425 PMID:11158174 PMID:11170288 PMID:11170890 PMID:11179017 PMID:11180605 PMID:11180606 PMID:11185744 PMID:11207042 PMID:11241844 PMID:11251181 PMID:11267991 PMID:11284040 PMID:11304778 PMID:11307153 PMID:11309337 PMID:11336395 PMID:11359068 PMID:11389159 PMID:11391658 PMID:11400546 PMID:11430722 PMID:11447276 PMID:11466700 PMID:11504767 PMID:11512557 PMID:11556836 PMID:11595708 PMID:11597388 PMID:11698567 PMID:11710835 PMID:11710890 PMID:11748848 PMID:11754111 PMID:11793480 PMID:11802208 PMID:11802209 PMID:11812938 PMID:11836363 PMID:11843247 PMID:11844822 PMID:11857748 PMID:11873550 PMID:11879560 PMID:11890985 PMID:11896095 PMID:11897832 PMID:11920621 PMID:11920643 PMID:11927503 PMID:11929857 PMID:11938448 PMID:11948123 PMID:11950811 PMID:11972384 PMID:11979449 PMID:12036913 PMID:12048272 PMID:12065746 PMID:12070551 PMID:12097257 PMID:12097290 PMID:12100744 PMID:12112655 PMID:12114492 PMID:12142080 PMID:12145750 PMID:12161607 PMID:12181777 PMID:12203997 PMID:12204006 PMID:12215251 PMID:12228710 PMID:12237285 PMID:12373604 PMID:12385650 PMID:12402332 PMID:12414830 PMID:12427538 PMID:12442171 PMID:12442265 PMID:12442273 PMID:12442274 PMID:12442275 PMID:12461697 PMID:12473589 PMID:12474142 PMID:12491487 PMID:12491499 PMID:12552570 PMID:12556369 PMID:12569143 PMID:12601471 PMID:12606139 PMID:12618335 PMID:12624152 PMID:12624724 PMID:12649099 PMID:12655560 PMID:12655567 PMID:12655574 PMID:12670525 PMID:12672316 PMID:12673274 PMID:12673801 PMID:12684407 PMID:12698193 PMID:12750261 PMID:12750298 PMID:12754708 PMID:12759930 PMID:12774040 PMID:12815053 PMID:12845657 PMID:12872265 PMID:12900794 PMID:12915460 PMID:12920083 PMID:12928470 PMID:12938098 PMID:12942367 PMID:12955716 PMID:12955719 PMID:12960223 PMID:12967658 PMID:14507240 PMID:14517958 PMID:14520695 PMID:14520696 PMID:14531499 PMID:14555511 PMID:14555518 PMID:14559878 PMID:14574163 PMID:14574168 PMID:14576434 PMID:14647210 PMID:14647413 PMID:14647438 PMID:14662532 PMID:14670928 PMID:14672397 PMID:14684619 PMID:14722926 PMID:14732925 PMID:14735197 PMID:14746861 PMID:14757868 PMID:14757871 PMID:14955690 PMID:14973102 PMID:14981104 PMID:14985394 PMID:15004464 PMID:15010701 PMID:15024741 PMID:15026808 PMID:15059511 PMID:15070707 PMID:15115758 PMID:15117986 PMID:15131399 PMID:15145354 PMID:15146557 PMID:15158118 PMID:15168169 PMID:15172125 PMID:15172753 PMID:15217494 PMID:15235023 PMID:15254695 PMID:15290653 PMID:15300854 PMID:15307796 PMID:15317758 PMID:15340362 PMID:15365993 PMID:15382066 PMID:15475941 PMID:15519522 PMID:15533909 PMID:15548363 PMID:15548676 PMID:15571962 PMID:15617999 PMID:15635067 PMID:15642173 PMID:15645491 PMID:15689453 PMID:15695382 PMID:15728167 PMID:15733268 PMID:15744030 PMID:15744044 PMID:15766593 PMID:15799620 PMID:15800311 PMID:15800615 PMID:15806175 PMID:15858120 PMID:15863663 PMID:15868448 PMID:15876480 PMID:15880509 PMID:15887246 PMID:15889636 PMID:15918047 PMID:15937982 PMID:15944772 PMID:15951958 PMID:15955690 PMID:15983021 PMID:15994883 PMID:16011303 PMID:16015582 PMID:16030099 PMID:16047333 PMID:16047344 PMID:16088935 PMID:16115142 PMID:16140926 PMID:16141007 PMID:16162645 PMID:16168118 PMID:16168123 PMID:16170354 PMID:16199546 PMID:16199547 PMID:16205630 PMID:16211554 PMID:16234499 PMID:16261400 PMID:16261408 PMID:16284991 PMID:16389418 PMID:16417627 PMID:16418514 PMID:16455195 PMID:16489001 PMID:16528604 PMID:16539696 PMID:16541310 PMID:16550498 PMID:16551709 PMID:16574953 PMID:16616110 PMID:16619214 PMID:16644204 PMID:16683254 PMID:16685647 PMID:16741161 PMID:16758124 PMID:16760289 PMID:16764716 PMID:16792514 PMID:16793542 PMID:16825431 PMID:16826315 PMID:16835750 PMID:16843109 PMID:16847550 PMID:16875939 PMID:16905680 PMID:16912212 PMID:16920162 PMID:16931905 PMID:16939956 PMID:16949048 PMID:16950820 PMID:16978908 PMID:16982466 PMID:16998791 PMID:17011978 PMID:17018160 PMID:17020472 PMID:17026620 PMID:17027500 PMID:17063265 PMID:17063270 PMID:17063271 PMID:17080309 PMID:17087817 PMID:17088437 PMID:17100994 PMID:17148771 PMID:17224268 PMID:17233897 PMID:17250666 PMID:17257844 PMID:17262179 PMID:17289875 PMID:17301269 PMID:17308087 PMID:17319787 PMID:17333343 PMID:17341484 PMID:17351952 PMID:17413421 PMID:17419707 PMID:17445839 PMID:17453335 PMID:17470134 PMID:17503080 PMID:17513806 PMID:17515903 PMID:17541404 PMID:17565157 PMID:17576681 PMID:17591842 PMID:17591843 PMID:17591940 PMID:17592676 PMID:17624602 PMID:17636422 PMID:17640379 PMID:17657584 PMID:17661168 PMID:17679929 PMID:17688236 PMID:17700570 PMID:17724471 PMID:17761984 PMID:17767707 PMID:17826769 PMID:17850627 PMID:17851763 PMID:17899372 PMID:17922257 PMID:17924331 PMID:17925560 PMID:17971607 PMID:17972171 PMID:17972177 PMID:17997147 PMID:18006916 PMID:18042939 PMID:18060494 PMID:18092194 PMID:18094411 PMID:18097605 PMID:18176857 PMID:18182601 PMID:18182994 PMID:18212739 PMID:18214034 PMID:18256760 PMID:18257128 PMID:18264087 PMID:18284688 PMID:18286383 PMID:18307534 PMID:18317453 PMID:18330910 PMID:18363094 PMID:18375895 PMID:18393245 PMID:18403564 PMID:18418466 PMID:18424508 PMID:18431501 PMID:18439106 PMID:18442100 PMID:18445692 PMID:18446624 PMID:18451181 PMID:18465347 PMID:18489799 PMID:18497862 PMID:18500671 PMID:18528753 PMID:18547621 PMID:18559594 PMID:18563556 PMID:18593900 PMID:18594331 PMID:18597679 PMID:18607349 PMID:18627636 PMID:18627637 PMID:18657973 PMID:18693280 PMID:18694767 PMID:18703817 PMID:18704680 PMID:18712473 PMID:18724707 PMID:18779604 PMID:18783588 PMID:18819001 PMID:18821011 PMID:18824701 PMID:18844490 PMID:18855126 PMID:18951446 PMID:18951449 PMID:18951461 PMID:18955455 PMID:19011960 PMID:19016756 PMID:19030985 PMID:19043619 PMID:19047089 PMID:19064968 PMID:19070627 PMID:19073510 PMID:19087709 PMID:19179552 PMID:19188187 PMID:19200354 PMID:19229607 PMID:19241424 PMID:19267246 PMID:19288190 PMID:19329713 PMID:19340607 PMID:19353265 PMID:19369211 PMID:19377795 PMID:19423647 PMID:19471317 PMID:19473207 PMID:19478387 PMID:19491284 PMID:19499246 PMID:19530235 PMID:19540122 PMID:19542536 PMID:19563646 PMID:19609323 PMID:19616529 PMID:19619314 PMID:19620486 PMID:19649703 PMID:19654294 PMID:19656164 PMID:19656415 PMID:19706752 PMID:19714488 PMID:19747923 PMID:19763152 PMID:19787003 PMID:19795481 PMID:19796187 PMID:19799798 PMID:19805903 PMID:19806429 PMID:19818148 PMID:19861517 PMID:19863560 PMID:19894111 PMID:19912264 PMID:19941162 PMID:19941167 PMID:19949876 PMID:19967274 PMID:19996028 PMID:20002770 PMID:20020529 PMID:20033483 PMID:20041885 PMID:20043088 PMID:20051372 PMID:20054658 PMID:20104584 PMID:20127978 PMID:20135345 PMID:20167696 PMID:20174566 PMID:20195775 PMID:20201734 PMID:20215541 PMID:20216074 PMID:20223018 PMID:20232141 PMID:20233483 PMID:20301425 | |