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Hsd17b3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
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ISO |
ClinVar Annotator: match by term: Pseudohermaphroditism |
ClinVar |
PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9536098 PMID:9758445 PMID:10599740 PMID:12429500 PMID:16199547 PMID:17466011 PMID:17509588 PMID:17551466 PMID:17576681 PMID:19498320 PMID:21214500 PMID:22212252 PMID:22445608 PMID:23295294 PMID:23796702 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25740850 PMID:25741868 PMID:27163392 PMID:27898418 PMID:27899157 PMID:28492532 PMID:30668521 PMID:31589614 PMID:32297288 PMID:36606580 More...
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NCBI chr17:1,032,958...1,064,283
Ensembl chr17:1,027,229...1,058,554
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G |
Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
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ISO |
ClinVar Annotator: match by term: Pseudohermaphroditism |
ClinVar |
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NCBI chr 6:11,415,361...11,480,834
Ensembl chr 6:5,661,871...5,724,521
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Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis |
ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:11,208,512...11,354,588
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G |
Hsd17b3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
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ISO ISS |
ClinVar Annotator: match by term: HSD17B3-related condition | ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency OMIM:264300 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:598011 PMID:2918056 PMID:3066852 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9467575 PMID:9536098 PMID:9709959 PMID:9758445 PMID:10022457 PMID:10599740 PMID:11158067 PMID:12429500 PMID:16199547 PMID:17466011 PMID:17509588 PMID:17551466 PMID:17576681 PMID:19498320 PMID:21214500 PMID:22212252 PMID:22445608 PMID:23295294 PMID:23796702 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25526675 PMID:25740850 PMID:25741868 PMID:26956191 PMID:27073926 PMID:27163392 PMID:27307783 PMID:27898418 PMID:27899157 PMID:28492532 PMID:28617986 PMID:28739554 PMID:29397602 PMID:30668521 PMID:31589614 PMID:31614207 PMID:32297288 PMID:32372306 PMID:33468338 PMID:33516834 PMID:33742552 PMID:33984517 PMID:34009138 PMID:35432193 PMID:36110220 PMID:36154887 PMID:36606580 PMID:37741351 More...
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NCBI chr17:1,032,958...1,064,283
Ensembl chr17:1,027,229...1,058,554
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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 chr12:19,043,004...19,065,686
Ensembl chr12:13,928,898...13,941,248
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G |
C3 |
complement C3 |
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ISO |
ClinVar Annotator: match by term: DBP deficiency |
ClinVar |
PMID:16385454 PMID:18796626 PMID:20301500 PMID:20301541 PMID:28492532 PMID:29888403 More...
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NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
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G |
Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
severity |
ISO ISS |
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: D-bifunctional protein deficiency | ClinVar Annotator: match by term: DBP deficiency OMIM:261515 DNA:mutations:multiple (human) |
ClinVar MouseDO OMIM RGD |
PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10400999 PMID:10419023 PMID:10497229 PMID:10671535 PMID:10748062 PMID:11330053 PMID:11743515 PMID:11810648 PMID:11992265 PMID:12562856 PMID:16199547 PMID:16385454 PMID:17576681 PMID:20673864 PMID:20681997 PMID:22507161 PMID:22864515 PMID:23100014 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:24602372 PMID:25741868 PMID:25882080 PMID:25954003 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27124789 PMID:27243974 PMID:27290639 PMID:27528516 PMID:27618451 PMID:27790638 PMID:28017249 PMID:28490743 PMID:28492532 PMID:28649525 PMID:28708278 PMID:28830375 PMID:28973083 PMID:30396834 PMID:30561787 PMID:31230720 PMID:31455392 PMID:32042923 PMID:32904102 PMID:33510602 PMID:33539324 PMID:34440436 PMID:34534157 PMID:34623748 PMID:34645488 PMID:34660840 PMID:34719423 PMID:34732400 PMID:34906502 PMID:36939041 PMID:9345094 PMID:16385454 More...
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RGD:1599968, RGD:10411884 |
NCBI chr18:45,515,427...45,604,467
Ensembl chr18:43,328,824...43,417,952
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Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
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ISO |
ClinVar Annotator: match by term: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT | ClinVar Annotator: match by term: Leydig cell agenesis | ClinVar Annotator: match by term: Luteinizing hormone resistance, female CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7581384 PMID:7692306 PMID:7714085 PMID:7719343 PMID:7757065 PMID:7892197 PMID:8559204 PMID:8843415 PMID:8855841 PMID:8923827 PMID:8943222 PMID:9039330 PMID:9514160 PMID:9626144 PMID:9703386 PMID:9817592 PMID:9851790 PMID:11041448 PMID:11849253 PMID:12050206 PMID:12679452 PMID:15372531 PMID:15472221 PMID:16123233 PMID:16616374 PMID:17030087 PMID:21490077 PMID:23861372 PMID:23884663 PMID:25741868 PMID:25741869 PMID:26040673 PMID:26246498 PMID:26467025 PMID:27016457 PMID:27533885 PMID:28339861 PMID:28492532 PMID:30283825 PMID:30444213 PMID:31967000 More...
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NCBI chr 6:11,415,361...11,480,834
Ensembl chr 6:5,661,871...5,724,521
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G |
Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
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ISO |
ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I |
ClinVar |
PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7757065 PMID:7892197 PMID:8559204 PMID:8843415 PMID:8855841 PMID:8943222 PMID:9039330 PMID:9703386 PMID:9851790 PMID:11041448 PMID:12679452 PMID:16123233 PMID:16616374 PMID:17030087 PMID:21490077 PMID:23861372 PMID:25741868 PMID:26040673 PMID:26246498 PMID:26467025 PMID:27016457 PMID:27533885 PMID:28339861 PMID:28492532 PMID:30283825 PMID:30444213 PMID:31967000 More...
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NCBI chr 6:11,415,361...11,480,834
Ensembl chr 6:5,661,871...5,724,521
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G |
Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
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ISO |
ClinVar Annotator: match by term: Leydig cell hypoplasia, type II |
ClinVar |
PMID:9215288 PMID:9626653 PMID:10852464 |
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NCBI chr 6:11,415,361...11,480,834
Ensembl chr 6:5,661,871...5,724,521
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G |
Amh |
anti-Mullerian hormone |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: AMH-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I |
OMIM CTD ClinVar |
PMID:1483695 PMID:1809231 PMID:2023927 PMID:2562843 PMID:8162013 PMID:11760020 PMID:22188863 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28505284 PMID:28528332 PMID:30668521 PMID:30786001 PMID:31277073 PMID:31291191 PMID:32172781 PMID:37004205 More...
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NCBI chr 7:9,557,451...9,559,867
Ensembl chr 7:8,906,836...8,909,282
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G |
Amhr2 |
anti-Mullerian hormone receptor type 2 |
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ISO ISS |
ClinVar Annotator: match by term: AMHR2-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type II OMIM:261550 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:7493017 PMID:8872466 PMID:11549681 PMID:12893352 PMID:19457927 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28528332 PMID:31291191 PMID:32961540 PMID:33025551 PMID:34810374 More...
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NCBI chr 7:135,454,517...135,470,183
Ensembl chr 7:133,579,393...133,588,258
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