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G |
Ccdc141 |
coiled-coil domain containing 141 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
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NCBI chr 3:82,357,046...82,517,199
Ensembl chr 3:61,948,646...62,110,079
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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G |
Gnrhr |
gonadotropin releasing hormone receptor |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia |
ClinVar |
PMID:7557974 PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 PMID:10690855 PMID:10999776 PMID:11397842 PMID:11397871 PMID:12057744 PMID:12364481 PMID:12574221 PMID:12679486 PMID:15728205 PMID:16968799 PMID:17235395 PMID:20389088 PMID:20696889 PMID:21292259 PMID:21645587 PMID:21664240 PMID:22724017 PMID:22745237 PMID:23155690 PMID:23643382 PMID:23650335 PMID:24732674 PMID:25016926 PMID:25077900 PMID:25741868 PMID:26207952 PMID:26467025 PMID:26792935 PMID:28348023 PMID:28492532 PMID:28611058 PMID:29182666 PMID:30476149 PMID:32870266 PMID:33223529 PMID:33968656 PMID:34403359 PMID:36407308 More...
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NCBI chr14:22,211,666...22,229,654
Ensembl chr14:21,856,871...21,874,861
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G |
Kiss1r |
KISS1 receptor |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia |
ClinVar |
PMID:14573733 PMID:23349759 PMID:25741868 PMID:28492532 PMID:31073722 |
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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 |
Nhlh2 |
nescient helix loop helix 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 PMID:35066646 |
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NCBI chr 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625
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G |
Nlgn3 |
neuroligin 3 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
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NCBI chr X:70,469,251...70,497,380
Ensembl chr X:66,429,458...66,451,876
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G |
Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
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ISS |
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MouseDO |
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NCBI chr 3:42,874,505...42,896,109
Ensembl chr 3:22,465,502...22,486,328
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G |
Plxna3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr X:157,266,986...157,282,896
Ensembl chr X:152,115,819...152,131,603
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G |
Polr2f |
RNA polymerase II, I and III subunit F |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr 7:112,592,977...112,604,681
Ensembl chr 7:110,712,572...110,724,234
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G |
Polr3b |
RNA polymerase III subunit B |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia |
ClinVar |
PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32319736 PMID:35253369 More...
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NCBI chr 7:20,926,866...21,030,133
Ensembl chr 7:19,038,552...19,142,598
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G |
Pou6f2 |
POU class 6 homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia |
ClinVar |
PMID:25741868 |
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NCBI chr17:46,472,182...46,886,796
Ensembl chr17:46,472,181...46,921,039
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G |
Prok2 |
prokineticin 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr 4:133,903,210...133,918,126
Ensembl chr 4:132,347,103...132,361,385
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G |
Prokr2 |
prokineticin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia |
ClinVar |
PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 PMID:18826963 PMID:20022991 PMID:20696889 PMID:21209029 PMID:21247312 PMID:22035731 PMID:22466334 PMID:22773735 PMID:23386640 PMID:23643382 PMID:24031091 PMID:24276467 PMID:24830383 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29161432 More...
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NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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G |
Sema3f |
semaphorin 3F |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr 8:117,236,269...117,265,206
Ensembl chr 8:108,357,629...108,387,083
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G |
Sox10 |
SRY-box transcription factor 10 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:110,725,274...110,735,544
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G |
Sox11 |
SRY-box transcription factor 11 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:44,008,340...44,010,354
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G |
Tacr3 |
tachykinin receptor 3 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr 2:225,940,497...226,037,756
Ensembl chr 2:223,266,536...223,363,791
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G |
Wfdc17 |
WAP four-disulfide core domain 17 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:8504298 PMID:11297579 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28915117 PMID:36268624 PMID:36917044 More...
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NCBI chr10:69,059,451...69,060,298
Ensembl chr10:68,561,954...68,562,801
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G |
Cpe |
carboxypeptidase E |
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ISO |
DNA:missense mutations:CDS:exon 2, c.361C>T p.Arg121|exon 6 c994del p.Ser333Alafx*22 ClinVar Annotator: match by term: BDV syndrome | ClinVar Annotator: match by term: BLAKEMORE-DURMAZ-VASILEIOU SYNDROME | ClinVar Annotator: match by term: CPE-related condition |
OMIM ClinVar RGD |
PMID:25741868 PMID:26120850 PMID:28492532 PMID:34383079 PMID:35562395 PMID:34383079 More...
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RGD:405650667 |
NCBI chr16:29,796,707...29,908,647
Ensembl chr16:25,030,276...25,142,233
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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734
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G |
Rnf216 |
ring finger protein 216 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome | ClinVar Annotator: match by term: RNF216-related condition |
OMIM CTD ClinVar |
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 PMID:32982993 More...
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NCBI chr12:16,568,327...16,689,868
Ensembl chr12:11,454,797...11,576,304
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G |
Wfdc17 |
WAP four-disulfide core domain 17 |
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ISO |
ClinVar Annotator: match by term: ANOS1-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia |
OMIM ClinVar |
PMID:1518845 PMID:1594017 PMID:1639422 PMID:1904396 PMID:8504298 PMID:9536098 PMID:9589672 PMID:9713559 PMID:11044805 PMID:11297579 PMID:12050219 PMID:12727945 PMID:15001591 PMID:15605412 PMID:16199547 PMID:16882753 PMID:17054399 PMID:17576681 PMID:18259106 PMID:21681106 PMID:21717404 PMID:22035731 PMID:23100014 PMID:23410897 PMID:23533228 PMID:23643382 PMID:23721716 PMID:23849776 PMID:24031091 PMID:25064402 PMID:25077900 PMID:25339597 PMID:25636053 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26708526 PMID:26862482 PMID:27657687 PMID:28122887 PMID:28295047 PMID:28492532 PMID:28566479 PMID:28708303 PMID:28780519 PMID:28915117 PMID:29211946 PMID:29758562 PMID:30098700 PMID:31200363 PMID:31602316 PMID:32870266 PMID:36268624 PMID:36917044 More...
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NCBI chr10:69,059,451...69,060,298
Ensembl chr10:68,561,954...68,562,801
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G |
Tac3 |
tachykinin precursor 3 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 without anosmia |
OMIM ClinVar |
PMID:19079066 PMID:20332248 PMID:25741868 |
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NCBI chr 7:65,447,817...65,454,427
Ensembl chr 7:63,562,552...63,569,170
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G |
Tacr3 |
tachykinin receptor 3 |
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ISO ISS |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia | ClinVar Annotator: match by term: TACR3-related condition OMIM:614840 |
OMIM ClinVar MouseDO |
PMID:16199547 PMID:18422838 PMID:19079066 PMID:20194706 PMID:20332248 PMID:21300340 PMID:22031817 PMID:22035731 PMID:23329188 PMID:23643382 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32763379 PMID:33363893 More...
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NCBI chr 2:225,940,497...226,037,756
Ensembl chr 2:223,266,536...223,363,791
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G |
Gnrh1 |
gonadotropin releasing hormone 1 |
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ISO ISS |
DNA:missense mutation:cds:p.R31C (human) ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency OMIM:614841 CTD Direct Evidence: marker/mechanism DNA:frameshift mutation, nonsense mutation, missense mutations:multiple (human) DNA:frameshift mutation:cds:c.18-19insA (human) |
ClinVar MouseDO CTD OMIM RGD |
PMID:19535795 PMID:19567835 PMID:25741868 PMID:26467025 PMID:26595427 PMID:28492532 PMID:32813678 PMID:23936060 PMID:19567835 PMID:19535795 More...
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RGD:9685133, RGD:9685137, RGD:9685134 |
NCBI chr15:46,147,878...46,152,086
Ensembl chr15:41,972,905...41,973,581 Ensembl chr15:41,972,905...41,973,581
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G |
Gnrhr |
gonadotropin releasing hormone receptor |
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ISO |
ClinVar Annotator: match by term: Isolated GnRH Deficiency |
ClinVar |
PMID:9371856 PMID:11397871 PMID:12364481 PMID:12606630 PMID:15240592 PMID:15728205 PMID:16213849 PMID:17161329 PMID:20389088 PMID:20696889 PMID:22745237 PMID:22766261 PMID:23295295 PMID:23341491 PMID:23643382 PMID:25016926 PMID:25741868 PMID:28492532 More...
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NCBI chr14:22,211,666...22,229,654
Ensembl chr14:21,856,871...21,874,861
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G |
Tacr3 |
tachykinin receptor 3 |
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ISO |
ClinVar Annotator: match by term: Isolated GnRH Deficiency |
ClinVar |
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NCBI chr 2:225,940,497...226,037,756
Ensembl chr 2:223,266,536...223,363,791
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G |
Kiss1 |
KiSS-1 metastasis-suppressor |
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ISO ISS |
OMIM:614842 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 13 with or without anosmia | ClinVar Annotator: match by term: KISS1-related condition |
OMIM MouseDO ClinVar |
PMID:22335740 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr13:47,327,159...47,332,759
Ensembl chr13:44,774,823...44,780,612
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G |
Wdr11 |
WD repeat domain 11 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with or without anosmia | ClinVar Annotator: match by term: WDR11-related condition |
OMIM ClinVar |
PMID:20887964 PMID:25741868 PMID:27899157 PMID:28492532 PMID:29263200 PMID:34413497 More...
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NCBI chr 1:193,595,606...193,641,149
Ensembl chr 1:184,165,571...184,210,846
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G |
Hs6st1 |
heparan sulfate 6-O-sulfotransferase 1 |
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ISO |
ClinVar Annotator: match by term: HS6ST1-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with or without anosmia |
OMIM ClinVar |
PMID:6881209 PMID:21700882 PMID:23643382 PMID:24033266 PMID:25077900 PMID:25636053 PMID:25741868 PMID:27535533 PMID:28492532 More...
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NCBI chr 9:45,779,402...45,818,583
Ensembl chr 9:38,282,395...38,322,683
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G |
Sema3a |
semaphorin 3A |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia | ClinVar Annotator: match by term: SEMA3A-related condition |
OMIM ClinVar |
PMID:22416012 PMID:22927827 PMID:24033266 PMID:24728844 PMID:24963029 PMID:25636053 PMID:25741868 PMID:28492532 PMID:29419413 PMID:30098700 PMID:32060892 PMID:32870266 PMID:36531499 More...
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NCBI chr 4:22,239,418...22,709,907
Ensembl chr 4:21,287,982...21,494,432
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G |
Spry4 |
sprouty RTK signaling antagonist 4 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 17 with or without anosmia | ClinVar Annotator: match by term: SPRY4-related condition |
OMIM ClinVar |
PMID:23643382 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32870266 |
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NCBI chr18:30,687,633...30,702,546
Ensembl chr18:30,436,443...30,453,004
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G |
Il17rd |
interleukin 17 receptor D |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with or without anosmia | ClinVar Annotator: match by term: IL17RD-related condition |
OMIM ClinVar |
PMID:23643382 PMID:25636053 PMID:25741868 PMID:28492532 |
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NCBI chr16:2,235,172...2,489,827
Ensembl chr16:2,228,287...2,292,556
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G |
Dusp6 |
dual specificity phosphatase 6 |
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ISO |
ClinVar Annotator: match by term: DUSP6-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 19 with or without anosmia |
OMIM ClinVar |
PMID:23643382 PMID:25741868 PMID:28492532 |
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NCBI chr 7:35,979,502...35,983,834
Ensembl chr 7:34,092,943...34,097,185
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G |
Adam9 |
ADAM metallopeptidase domain 9 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:73,725,186...73,804,284
Ensembl chr16:67,022,655...67,100,917
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G |
Adgra2 |
adhesion G protein-coupled receptor A2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:71,635,814...71,674,275
Ensembl chr16:64,933,315...64,971,483
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G |
Adrb3 |
adrenoceptor beta 3 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:71,544,603...71,547,410
Ensembl chr16:64,841,788...64,844,552
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G |
Ash2l |
ASH2 like histone lysine methyltransferase complex subunit |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:72,943,527...72,966,791
Ensembl chr16:66,242,212...66,264,061
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G |
Bag4 |
BAG cochaperone 4 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:72,991,407...73,008,620
Ensembl chr16:66,288,678...66,308,663
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G |
Brf2 |
BRF2 general transcription factor 3B subunit |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:71,626,146...71,635,909
Ensembl chr16:64,928,300...64,933,059
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G |
Ddhd2 |
DDHD domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:73,022,136...73,051,746
Ensembl chr16:66,319,466...66,349,023
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G |
Eif4ebp1 |
eukaryotic translation initiation factor 4E binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:71,495,457...71,508,845
Ensembl chr16:64,790,226...64,805,984
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G |
Erlin2 |
ER lipid raft associated 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia | ClinVar Annotator: match by term: Kallmann syndrome 2 |
OMIM ClinVar |
PMID:1456217 PMID:6881209 PMID:7795583 PMID:7874169 PMID:8948562 PMID:9536098 PMID:10629055 PMID:10690855 PMID:10861678 PMID:10942429 PMID:11173846 PMID:12627230 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15001591 PMID:15365636 PMID:15605412 PMID:15625620 PMID:15793702 PMID:16199547 PMID:16418210 PMID:16470795 PMID:16606836 PMID:16757108 PMID:16764984 PMID:16882753 PMID:16957473 PMID:17154279 PMID:17200176 PMID:17235395 PMID:17360555 PMID:17530415 PMID:17576681 PMID:17963255 PMID:18034870 PMID:18160472 PMID:18596921 PMID:18985070 PMID:19489874 PMID:19707180 PMID:19820032 PMID:20079901 PMID:20536592 PMID:20696889 PMID:21209029 PMID:21247312 PMID:21700882 PMID:22035731 PMID:22249004 PMID:22319038 PMID:22378383 PMID:23154428 PMID:23329143 PMID:23348397 PMID:23533228 PMID:23643382 PMID:23657145 PMID:23812909 PMID:24031091 PMID:24127277 PMID:24204987 PMID:24497711 PMID:24759409 PMID:25064402 PMID:25077900 PMID:25251565 PMID:25383892 PMID:25394172 PMID:25425165 PMID:25501157 PMID:25636053 PMID:25741868 PMID:25759380 PMID:26467025 PMID:26708526 PMID:26931467 PMID:26942290 PMID:27170295 PMID:27246988 PMID:27363716 PMID:27502037 PMID:27596331 PMID:27884173 PMID:27884859 PMID:28008864 PMID:28492532 PMID:28754744 PMID:28833369 PMID:28915117 PMID:29168297 PMID:29419413 PMID:30098700 PMID:30143558 PMID:30921766 PMID:31200363 PMID:31475041 PMID:31605817 PMID:31748124 PMID:31837199 PMID:31996231 PMID:32666525 PMID:32724172 PMID:32853167 PMID:33337535 PMID:33442024 PMID:33448156 PMID:33532864 PMID:33548149 PMID:33983622 PMID:34342100 PMID:34348883 PMID:35738466 PMID:37805574 More...
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NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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G |
Got1l1 |
glutamic-oxaloacetic transaminase 1-like 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:64,860,308...64,873,656
Ensembl chr16:64,860,704...64,866,162
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Htra4 |
HtrA serine peptidase 4 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:73,704,255...73,717,722
Ensembl chr16:67,001,605...67,015,074
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G |
Letm2 |
leucine zipper and EF-hand containing transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:66,464,958...66,489,640
Ensembl chr16:66,469,111...66,489,704
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G |
Lsm1 |
LSM1 homolog, mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:72,980,075...72,991,581
Ensembl chr16:66,277,345...66,288,852
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Nsd3 |
nuclear receptor binding SET domain protein 3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:66,354,030...66,466,202
Ensembl chr16:66,358,973...66,465,423
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G |
Plekha2 |
pleckstrin homology domain containing A2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:66,938,684...67,000,661
Ensembl chr16:66,939,109...66,999,395
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Plpbp |
pyridoxal phosphate binding protein |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:71,705,064...71,717,726
Ensembl chr16:65,002,223...65,014,886
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Plpp5 |
phospholipid phosphatase 5 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:73,052,204...73,056,609
Ensembl chr16:66,349,502...66,464,797
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G |
Prokr2 |
prokineticin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Kallmann syndrome 2 |
ClinVar |
PMID:4276467 PMID:8954047 PMID:11259612 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18826963 PMID:20022991 PMID:20696889 PMID:21858136 PMID:22466334 PMID:22927827 PMID:23386640 PMID:23533228 PMID:23596439 PMID:23643382 PMID:24031091 PMID:24276467 PMID:25741868 PMID:28492532 PMID:29161432 PMID:31589614 PMID:33227799 More...
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NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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Rab11fip1 |
RAB11 family interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:71,589,753...71,620,341
Ensembl chr16:64,884,676...64,917,491
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Star |
steroidogenic acute regulatory protein |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:72,969,824...72,974,447
Ensembl chr16:66,264,807...66,271,672
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Tacc1 |
transforming, acidic coiled-coil containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:73,515,016...73,598,395
Ensembl chr16:66,812,295...66,895,733
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G |
Tm2d2 |
TM2 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
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NCBI chr16:67,016,683...67,022,206
Ensembl chr16:67,012,675...67,022,226
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Fgf17 |
fibroblast growth factor 17 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 without anosmia |
OMIM ClinVar |
PMID:6881209 PMID:21700882 PMID:23643382 |
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NCBI chr15:45,711,498...45,717,622
Ensembl chr15:45,711,998...45,717,063
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Flrt3 |
fibronectin leucine rich transmembrane protein 3 |
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ISO |
ClinVar Annotator: match by term: FLRT3-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia |
OMIM ClinVar |
PMID:23643382 PMID:25741868 PMID:28492532 |
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NCBI chr 3:148,448,115...148,461,458
Ensembl chr 3:127,994,226...128,007,841
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G |
Macrod2 |
mono-ADP ribosylhydrolase 2 |
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ISO |
ClinVar Annotator: match by term: FLRT3-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia |
ClinVar |
PMID:23643382 PMID:25741868 PMID:28492532 |
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NCBI chr 3:148,173,821...150,191,077
Ensembl chr 3:127,720,181...129,734,492
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G |
Fezf1 |
Fez family zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: FEZF1-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with or without anosmia |
OMIM ClinVar |
PMID:25192046 PMID:25741868 PMID:28492532 |
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NCBI chr 4:51,762,751...51,766,078
Ensembl chr 4:51,762,751...51,766,078
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Lhb |
luteinizing hormone subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 23 with or without anosmia | ClinVar Annotator: match by term: LHB-related condition |
OMIM CTD ClinVar |
PMID:429481 PMID:1727547 PMID:8979264 PMID:9457942 PMID:9694256 PMID:11384661 PMID:12189497 PMID:12620433 PMID:15602022 PMID:17761593 PMID:19126631 PMID:19890128 PMID:22723313 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:105,037,457...105,038,446
Ensembl chr 1:95,900,984...95,901,972 Ensembl chr 1:95,900,984...95,901,972
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Fshb |
follicle stimulating hormone subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmia |
OMIM CTD ClinVar |
PMID:4344039 PMID:8220432 PMID:9271483 PMID:9280841 PMID:9624193 PMID:9806482 PMID:12161499 PMID:20488225 PMID:22791757 PMID:25052309 PMID:25741868 PMID:28392474 PMID:28492532 PMID:32242295 More...
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NCBI chr 3:114,003,262...114,007,072
Ensembl chr 3:93,548,560...93,552,370
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Ndnf |
neuron-derived neurotrophic factor |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 25 with anosmia |
OMIM ClinVar |
PMID:25741868 PMID:31883645 |
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NCBI chr 4:96,274,147...96,311,624
Ensembl chr 4:94,944,360...94,981,873
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Tcf12 |
transcription factor 12 |
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ISO |
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 26 with or without anosmia |
OMIM ClinVar |
PMID:23354436 PMID:25741868 PMID:28492532 PMID:32620954 |
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NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:72,492,567...72,799,201
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Man2c1 |
mannosidase, alpha, class 2C, member 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia |
ClinVar |
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NCBI chr 8:66,434,480...66,445,649
Ensembl chr 8:57,537,321...57,549,690
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G |
Nhlh2 |
nescient helix loop helix 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia |
OMIM ClinVar |
PMID:25741868 PMID:35066646 |
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NCBI chr 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625
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G |
Prokr2 |
prokineticin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia | ClinVar Annotator: match by term: Kallmann syndrome 3 | ClinVar Annotator: match by term: PROKR2-related condition |
OMIM ClinVar |
PMID:1855992 PMID:2403109 PMID:4276467 PMID:8954047 PMID:11259612 PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 PMID:18826963 PMID:18985070 PMID:20022991 PMID:20502053 PMID:20696889 PMID:20981092 PMID:21209029 PMID:21247312 PMID:21858136 PMID:22035731 PMID:22319038 PMID:22399515 PMID:22466334 PMID:22745195 PMID:22773735 PMID:22927827 PMID:22995991 PMID:23082007 PMID:23200691 PMID:23386640 PMID:23533228 PMID:23596439 PMID:23643382 PMID:24031091 PMID:24204987 PMID:24276467 PMID:24753254 PMID:24830383 PMID:25531638 PMID:25636053 PMID:25678757 PMID:25741868 PMID:25759380 PMID:26031747 PMID:26467025 PMID:27899157 PMID:28209183 PMID:28492532 PMID:28754744 PMID:28858133 PMID:29161432 PMID:30216942 PMID:30311386 PMID:30430143 PMID:30476936 PMID:30487145 PMID:30576231 PMID:30669598 PMID:30773290 PMID:31093944 PMID:31219235 PMID:31589614 PMID:31748124 PMID:31781422 PMID:32400067 PMID:32763379 PMID:32870266 PMID:33227799 PMID:33411215 PMID:33468338 PMID:33587123 PMID:33729509 PMID:33983622 PMID:34348883 PMID:34539727 PMID:35090434 PMID:35173048 PMID:35669683 PMID:35922219 PMID:36110220 PMID:36138264 PMID:36259570 PMID:36694982 PMID:36843573 PMID:37642312 PMID:38593951 More...
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NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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Prok2 |
prokineticin 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 4 with or without anosmia | ClinVar Annotator: match by term: Kallmann syndrome 4 | ClinVar Annotator: match by term: PROK2-related condition |
OMIM ClinVar |
PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 PMID:20022991 PMID:23643382 PMID:24423319 PMID:25741868 PMID:26141714 PMID:26467025 PMID:28492532 PMID:29022642 PMID:29419413 PMID:31200363 PMID:37108593 More...
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NCBI chr 4:133,903,210...133,918,126
Ensembl chr 4:132,347,103...132,361,385
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G |
Chd7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia |
OMIM ClinVar |
PMID:9536098 PMID:15300250 PMID:16155193 PMID:16400610 PMID:16615981 PMID:17576681 PMID:18073582 PMID:18074359 PMID:18414213 PMID:18445044 PMID:18834967 PMID:20884005 PMID:21158681 PMID:21554267 PMID:21931733 PMID:21995344 PMID:22033296 PMID:22461308 PMID:22539353 PMID:23378218 PMID:23533228 PMID:23885230 PMID:24033266 PMID:24979395 PMID:25064402 PMID:25077900 PMID:25383892 PMID:25472840 PMID:25741868 PMID:25931334 PMID:26467025 PMID:26538304 PMID:26544072 PMID:26590800 PMID:26666243 PMID:26929907 PMID:27884173 PMID:27899157 PMID:28492532 PMID:29255181 PMID:29255276 PMID:29304373 PMID:29419413 PMID:30311386 PMID:30733481 PMID:31042289 PMID:31628846 PMID:31965297 PMID:32804436 PMID:32851286 PMID:32870266 PMID:33142350 PMID:34837038 PMID:35047002 PMID:36135330 More...
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NCBI chr 5:26,609,245...26,792,736
Ensembl chr 5:21,812,070...21,995,358
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G |
Sema3e |
semaphorin 3E |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia |
ClinVar |
PMID:15235037 PMID:25741868 PMID:28492532 PMID:32441320 |
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NCBI chr 4:21,252,686...21,510,449
Ensembl chr 4:20,299,718...20,555,229
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G |
Fgf8 |
fibroblast growth factor 8 |
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ISO |
ClinVar Annotator: match by term: FGF8-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 6 with or without anosmia |
OMIM ClinVar |
PMID:17360555 PMID:18596921 PMID:20463092 PMID:21045958 PMID:21832120 PMID:22399515 PMID:23533228 PMID:25131394 PMID:25741868 PMID:26467025 PMID:26857713 PMID:26931467 PMID:28492532 PMID:29584859 More...
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NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:244,584,652...244,590,359
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G |
Axl |
Axl receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
CTD ClinVar |
PMID:25741868 PMID:28492532 PMID:32870266 |
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NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:81,265,088...81,296,265
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G |
Bbip1 |
BBSome interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
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NCBI chr 1:262,950,459...262,964,410
Ensembl chr 1:252,945,557...252,959,352
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G |
Ccdc141 |
coiled-coil domain containing 141 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
CTD ClinVar |
PMID:25741868 PMID:28492532 PMID:34930920 PMID:35316923 PMID:35432193 |
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NCBI chr 3:82,357,046...82,517,199
Ensembl chr 3:61,948,646...62,110,079
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G |
Dusp6 |
dual specificity phosphatase 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 7:35,979,502...35,983,834
Ensembl chr 7:34,092,943...34,097,185
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G |
Fezf1 |
Fez family zinc finger 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:51,762,751...51,766,078
Ensembl chr 4:51,762,751...51,766,078
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G |
Fgf17 |
fibroblast growth factor 17 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr15:45,711,498...45,717,622
Ensembl chr15:45,711,998...45,717,063
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
DNA:missense mutations, nonsense mutation:exon:multiple ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia DNA:missense mutations:exon:p.L342S (c.1025T>C), p.R470L (c.1409G>T) (human) DNA:nonsense mutation:exon:pR622X (1864C>T) (human) DNA:deletion:intron:c.2049-1G>C (human) |
ClinVar RGD |
PMID:12627230 PMID:16882753 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32853167 PMID:33548149 PMID:16606836 PMID:17235395 PMID:17200176 PMID:20079901 More...
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RGD:11567242, RGD:11567265, RGD:11567246, RGD:11567244 |
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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G |
Gnrh1 |
gonadotropin releasing hormone 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19535795 |
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NCBI chr15:46,147,878...46,152,086
Ensembl chr15:41,972,905...41,973,581 Ensembl chr15:41,972,905...41,973,581
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Gnrhr |
gonadotropin releasing hormone receptor |
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ISO ISS |
ClinVar Annotator: match by term: GNRHR-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia | ClinVar Annotator: match by term: Isolated congenital hypogonadotropic hypogonadism OMIM:146110 CTD Direct Evidence: marker/mechanism DNA:missense mutations: :p.Q106R, p.R262Q (human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:7557974 PMID:9371856 PMID:9425890 PMID:9449676 PMID:10022417 PMID:10084584 PMID:10523035 PMID:10690855 PMID:10772899 PMID:10999776 PMID:11297587 PMID:11318785 PMID:11397842 PMID:11397871 PMID:11994356 PMID:12050282 PMID:12057744 PMID:12107234 PMID:12364481 PMID:12477532 PMID:12568864 PMID:12574221 PMID:12606630 PMID:12679486 PMID:12890567 PMID:15240592 PMID:15728205 PMID:16213849 PMID:16359986 PMID:16968799 PMID:17161329 PMID:17235395 PMID:19449676 PMID:20022991 PMID:20389088 PMID:20696889 PMID:21292259 PMID:21645587 PMID:21664240 PMID:21736917 PMID:22031817 PMID:22035731 PMID:22405597 PMID:22679506 PMID:22724017 PMID:22745237 PMID:22766261 PMID:22918878 PMID:23155690 PMID:23295295 PMID:23341491 PMID:23643382 PMID:23650335 PMID:24732674 PMID:25016926 PMID:25077900 PMID:25636053 PMID:25741868 PMID:26207952 PMID:26467025 PMID:26708526 PMID:26792935 PMID:27094476 PMID:27544332 PMID:27884859 PMID:28295047 PMID:28348023 PMID:28492532 PMID:28611058 PMID:29182666 PMID:29419413 PMID:30098700 PMID:30415482 PMID:30476149 PMID:32520725 PMID:32870266 PMID:33223529 PMID:33592857 PMID:33968656 PMID:34403359 PMID:34636164 PMID:36407308 PMID:17235395 More...
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RGD:11567265 |
NCBI chr14:22,211,666...22,229,654
Ensembl chr14:21,856,871...21,874,861
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G |
Hs6st1 |
heparan sulfate 6-O-sulfotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:21700882 PMID:23643382 PMID:24033266 PMID:25636053 PMID:25741868 PMID:27535533 PMID:28492532 More...
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NCBI chr 9:45,779,402...45,818,583
Ensembl chr 9:38,282,395...38,322,683
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G |
Kiss1r |
KISS1 receptor |
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ISO |
ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism |
ClinVar |
PMID:14573733 PMID:23349759 PMID:25741868 PMID:28492532 PMID:31073722 |
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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 |
Nsmf |
NMDA receptor synaptonuclear signaling and neuronal migration factor |
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ISO |
DNA:deletion:intron:c.1159-14_-22del (human) |
RGD |
PMID:17235395 |
RGD:11567265 |
NCBI chr 3:28,260,018...28,268,790
Ensembl chr 3:7,861,872...7,870,614
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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 PMID:34445196 PMID:35069422 PMID:35872528 More...
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NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734
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G |
Polr3b |
RNA polymerase III subunit B |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia | ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism |
ClinVar |
PMID:16199547 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27029625 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32319736 PMID:32345981 PMID:32870266 PMID:33726816 PMID:34440436 PMID:35253369 PMID:35316923 PMID:36268624 PMID:37273706 More...
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NCBI chr 7:20,926,866...21,030,133
Ensembl chr 7:19,038,552...19,142,598
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Pou6f2 |
POU class 6 homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr17:46,472,182...46,886,796
Ensembl chr17:46,472,181...46,921,039
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Prokr2 |
prokineticin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia | ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism |
ClinVar |
PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 PMID:18826963 PMID:20022991 PMID:20696889 PMID:21209029 PMID:21247312 PMID:22035731 PMID:22466334 PMID:22773735 PMID:23386640 PMID:23643382 PMID:24031091 PMID:24276467 PMID:24830383 PMID:25636053 PMID:25741868 PMID:26467025 PMID:27899157 PMID:28209183 PMID:28492532 PMID:28754744 PMID:29161432 PMID:31781422 PMID:33587123 PMID:34348883 PMID:36694982 More...
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NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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Rnf216 |
ring finger protein 216 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:25558065 |
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NCBI chr12:16,568,327...16,689,868
Ensembl chr12:11,454,797...11,576,304
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Sema3e |
semaphorin 3E |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:21,252,686...21,510,449
Ensembl chr 4:20,299,718...20,555,229
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Sox11 |
SRY-box transcription factor 11 |
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ISO |
ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:44,008,340...44,010,354
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Spry4 |
sprouty RTK signaling antagonist 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr18:30,687,633...30,702,546
Ensembl chr18:30,436,443...30,453,004
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Sra1 |
steroid receptor RNA activator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr18:28,543,347...28,547,474
Ensembl chr18:28,269,311...28,272,538
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Tac3 |
tachykinin precursor 3 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:25636053 |
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NCBI chr 7:65,447,817...65,454,427
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: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:25636053 |
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NCBI chr 2:225,940,497...226,037,756
Ensembl chr 2:223,266,536...223,363,791
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Wdr11 |
WD repeat domain 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:193,595,606...193,641,149
Ensembl chr 1:184,165,571...184,210,846
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Wfdc17 |
WAP four-disulfide core domain 17 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:8504298 PMID:11297579 PMID:23643382 PMID:25636053 PMID:25741868 PMID:28492532 PMID:29758562 More...
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NCBI chr10:69,059,451...69,060,298
Ensembl chr10:68,561,954...68,562,801
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Kiss1r |
KISS1 receptor |
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ISO ISS |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia OMIM:614837 |
OMIM ClinVar MouseDO |
PMID:12788881 PMID:12944565 PMID:14573733 PMID:17164310 PMID:18272894 PMID:18772143 PMID:20371656 PMID:23349759 PMID:23643382 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31073722 More...
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NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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Nsmf |
NMDA receptor synaptonuclear signaling and neuronal migration factor |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 9 with or without anosmia | ClinVar Annotator: match by term: NSMF-related condition |
OMIM ClinVar |
PMID:15362570 PMID:17235395 PMID:21700882 PMID:25741868 PMID:28106320 PMID:28492532 More...
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NCBI chr 3:28,260,018...28,268,790
Ensembl chr 3:7,861,872...7,870,614
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
DNA:frameshift mutation, missense mutations: :multiple DNA:missense mutations, nonsense mutations:exon:multiple DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human) |
RGD |
PMID:16882753 PMID:16764984 PMID:15845591 |
RGD:11567239, RGD:11567241, RGD:11567240 |
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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Chd7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Hypogonadism with anosmia CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:18414213 PMID:18445044 PMID:21158681 PMID:22461308 PMID:24033266 PMID:25077900 PMID:25741868 PMID:26467025 PMID:28475860 PMID:28492532 PMID:29304373 More...
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NCBI chr 5:26,609,245...26,792,736
Ensembl chr 5:21,812,070...21,995,358
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Fgf8 |
fibroblast growth factor 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:244,584,652...244,590,359
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anosmic hypogonadism | ClinVar Annotator: match by term: Hypogonadism with anosmia |
CTD ClinVar |
PMID:25741868 |
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NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Hypogonadism with anosmia |
ClinVar |
PMID:25741868 |
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NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734
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Polr2f |
RNA polymerase II, I and III subunit F |
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ISO |
ClinVar Annotator: match by term: Hypogonadism with anosmia |
ClinVar |
PMID:25741868 PMID:33111345 |
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NCBI chr 7:112,592,977...112,604,681
Ensembl chr 7:110,712,572...110,724,234
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Prok2 |
prokineticin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 4:133,903,210...133,918,126
Ensembl chr 4:132,347,103...132,361,385
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Prokr2 |
prokineticin receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anosmic hypogonadism |
CTD ClinVar |
PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 PMID:22745195 PMID:24031091 PMID:24830383 PMID:25741868 PMID:28492532 PMID:29161432 PMID:31093944 PMID:32870266 More...
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NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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Sox10 |
SRY-box transcription factor 10 |
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ISO ISS |
DNA:mutations:cds: ClinVar Annotator: match by term: Hypogonadism with anosmia |
ClinVar MouseDO RGD |
PMID:25741868 PMID:33111345 PMID:23643381 |
RGD:12832748 |
NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:110,725,274...110,735,544
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Sra1 |
steroid receptor RNA activator 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadism with anosmia |
ClinVar |
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NCBI chr18:28,543,347...28,547,474
Ensembl chr18:28,269,311...28,272,538
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Tcf12 |
transcription factor 12 |
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ISO |
ClinVar Annotator: match by term: Hypogonadism with anosmia |
ClinVar |
PMID:25741868 PMID:32629054 |
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NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:72,492,567...72,799,201
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Wdr11 |
WD repeat domain 11 |
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ISS |
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MouseDO |
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NCBI chr 1:193,595,606...193,641,149
Ensembl chr 1:184,165,571...184,210,846
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Wfdc17 |
WAP four-disulfide core domain 17 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA |
CTD ClinVar |
PMID:23533228 PMID:25741868 PMID:28492532 |
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NCBI chr10:69,059,451...69,060,298
Ensembl chr10:68,561,954...68,562,801
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Chd7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Kallmann syndrome 5 |
ClinVar |
PMID:9536098 PMID:15300250 PMID:16155193 PMID:16615981 PMID:17576681 PMID:18073582 PMID:18414213 PMID:18445044 PMID:18834967 PMID:21158681 PMID:21931733 PMID:22033296 PMID:22461308 PMID:22539353 PMID:23533228 PMID:23885230 PMID:24033266 PMID:24979395 PMID:25064402 PMID:25077900 PMID:25383892 PMID:25741868 PMID:25931334 PMID:26467025 PMID:26590800 PMID:26666243 PMID:28492532 PMID:29255181 PMID:29255276 PMID:29419413 PMID:30311386 PMID:30733481 PMID:31628846 PMID:32804436 PMID:32851286 PMID:32870266 PMID:33142350 PMID:34837038 PMID:35047002 More...
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NCBI chr 5:26,609,245...26,792,736
Ensembl chr 5:21,812,070...21,995,358
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Sema3e |
semaphorin 3E |
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ISO |
ClinVar Annotator: match by term: Kallmann syndrome 5 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:21,252,686...21,510,449
Ensembl chr 4:20,299,718...20,555,229
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