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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 chr17:38,287,355...38,298,234
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis |
ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr 3:11,208,429...11,356,715
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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 chr17:1,027,229...1,058,554
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G |
Ar |
androgen receptor |
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ISO |
ClinVar Annotator: match by term: Gynecomastia, familial |
ClinVar |
PMID:2594783 PMID:16804045 PMID:25326637 PMID:25740850 PMID:25741868 PMID:26688387 PMID:26806084 PMID:27583472 PMID:28492532 PMID:36572623 More...
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NCBI chr X:63,104,771...63,273,934
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G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:139300 ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome | ClinVar Annotator: match by term: CYP19A1-related condition | ClinVar Annotator: match by term: Familial gynecomastia, due to increased aromatase activity | ClinVar Annotator: match by term: Pseudohermaphroditism, female, due to placental aromatase deficiency |
OMIM CTD MouseDO ClinVar |
PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 PMID:9177373 PMID:9211678 PMID:9536098 PMID:9718379 PMID:10566648 PMID:12466340 PMID:14602738 PMID:14715828 PMID:16199547 PMID:16882736 PMID:17164303 PMID:17576681 PMID:20048079 PMID:20186154 PMID:21521281 PMID:23329769 PMID:25088806 PMID:25264451 PMID:25301327 PMID:25415177 PMID:25741868 PMID:26822949 PMID:27086564 PMID:27256151 PMID:27693882 PMID:28492532 PMID:29324451 PMID:30968679 PMID:33108086 More...
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NCBI chr 8:63,449,148...63,476,534
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G |
Gldn |
gliomedin |
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ISO |
ClinVar Annotator: match by term: Aromatase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 8:54,679,015...54,723,198
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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
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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
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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
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G |
Hdac8 |
histone deacetylase 8 |
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ISO |
DNA:snp:intron:c.164+5G>A (human) |
RGD |
PMID:22889856 |
RGD:13208817 |
NCBI chr X:67,385,288...67,593,014
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G |
Las1l |
LAS1-like, ribosome biogenesis factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: LAS1L-related condition | ClinVar Annotator: match by term: Wilson-Turner syndrome |
OMIM CTD ClinVar |
PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532 |
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NCBI chr X:60,851,969...60,873,717
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G |
Zc3h12b |
zinc finger CCCH-type containing 12B |
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ISO |
ClinVar Annotator: match by term: Wilson-Turner syndrome |
ClinVar |
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NCBI chr X:60,615,616...60,849,278
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