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G |
Ckap2l |
cytoskeleton associated protein 2-like |
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ISO |
ClinVar Annotator: match by term: Hypogonadism |
ClinVar |
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NCBI chr 3:116,497,186...116,524,302
Ensembl chr 3:116,498,022...116,524,366
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
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IEP |
mRNA:decreased expression:testis (rat) |
RGD |
PMID:17880366 |
RGD:4833436 |
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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G |
Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18645707 |
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NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9177373 |
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NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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G |
Edn1 |
endothelin 1 |
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IEP |
mRNA, protein:decreased expression:testis (rat) |
RGD |
PMID:17880366 |
RGD:4833436 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Fshb |
follicle stimulating hormone subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:8263139 PMID:18449926 PMID:24739304 |
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NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370
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G |
Gnrh1 |
gonadotropin releasing hormone 1 |
treatment |
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:20063086 PMID:3097822 |
RGD:9685135 |
NCBI chr15:41,972,482...41,976,690
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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism |
CTD ClinVar |
PMID:7557974 PMID:9371856 PMID:10022417 PMID:10690855 PMID:10999776 PMID:11397842 PMID:11397871 PMID:12057744 PMID:12364481 PMID:12574221 PMID:12679486 PMID:15625238 PMID:15728205 PMID:17235395 PMID:20389088 PMID:20696889 PMID:21292259 PMID:21645587 PMID:21664240 PMID:22745237 PMID:23155690 PMID:23643382 PMID:23650335 PMID:25016926 PMID:25077900 PMID:25741868 PMID:26207952 PMID:26467025 PMID:26792935 PMID:28348023 PMID:28492532 PMID:29182666 PMID:30476149 PMID:33223529 PMID:33968656 PMID:34403359 PMID:36407308 More...
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NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
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G |
Hsd3b1 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 |
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IEP |
mRNA:decreased expression:testis (rat) |
RGD |
PMID:17880366 |
RGD:4833436 |
NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
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G |
Il17rd |
interleukin 17 receptor D |
|
ISO |
ClinVar Annotator: match by term: Hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556
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G |
Il6 |
interleukin 6 |
|
ISO |
associated with Pancreatic Neoplasms |
RGD |
PMID:20221887 |
RGD:2317160 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Kiss1r |
KISS1 receptor |
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ISO |
Hypogonadotropic hypogonadism, OMIM:146110 |
RGD |
PMID:12944565 |
RGD:1599279 |
NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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G |
Lep |
leptin |
treatment |
IDA ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:9500540 PMID:15070752 PMID:21790658 |
RGD:10053622 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Lepr |
leptin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17229951 |
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NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Lhb |
luteinizing hormone subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:1727547 PMID:8263139 PMID:15602022 PMID:18449926 |
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NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972 Ensembl chr 1:95,900,984...95,901,972
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G |
Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
|
ISO |
ClinVar Annotator: match by term: Hypergonadotropic hypogonadism |
ClinVar |
PMID:2244890 PMID:7556872 PMID:9851790 PMID:12679452 PMID:25741868 PMID:26467025 PMID:28492532 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 |
Nr0b1 |
nuclear receptor subfamily 0, group B, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7990958 |
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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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G |
Pcsk1 |
proprotein convertase subtilisin/kexin type 1 |
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ISO |
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RGD |
PMID:11874690 |
RGD:1357926 |
NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
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G |
Pold1 |
DNA polymerase delta 1, catalytic subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770608 |
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NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
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G |
Polr3b |
RNA polymerase III subunit B |
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ISO |
ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism |
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 More...
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NCBI chr 7:19,039,179...19,142,450
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: 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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G |
Prkg1 |
protein kinase cGMP-dependent 1 |
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IEP |
mRNA, protein:decreased expression:Leydig cell |
RGD |
PMID:20463352 |
RGD:7775065 |
NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080
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G |
Prl |
prolactin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15829128 |
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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 |
Prop1 |
PROP paired-like homeobox 1 |
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ISO |
DNA:point mutation:exon:W194X |
RGD |
PMID:15941866 |
RGD:1601504 |
NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434
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G |
Slc29a3 |
solute carrier family 29 member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20140240 |
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NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
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G |
Snrpe |
small nuclear ribonucleoprotein polypeptide E |
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ISO |
DNA:missense mutation:cds:p.E51D (mouse) |
RGD |
PMID:22258617 |
RGD:10768832 |
NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310 Ensembl chr 8:45,050,986...45,057,310
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G |
Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
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ISO |
ClinVar Annotator: match by term: Nonsyndromic hypergonadotropic hypogonadism |
ClinVar |
PMID:17301727 PMID:25741868 PMID:25774885 |
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NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
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G |
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 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
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G |
Star |
steroidogenic acute regulatory protein |
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IEP |
mRNA:decreased expression:testis (rat) |
RGD |
PMID:17880366 |
RGD:4833436 |
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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G |
Tac3 |
tachykinin precursor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19079066 |
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NCBI chr 7:63,562,552...63,569,170
Ensembl chr 7:63,562,552...63,569,170
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G |
Tacr3 |
tachykinin receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19079066 |
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NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
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G |
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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G |
Fshr |
follicle stimulating hormone receptor |
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ISO |
DNA:point mutation:exon:A189V ClinVar Annotator: match by term: Gonadal dysgenesis, XX type | ClinVar Annotator: match by term: Ovarian dysgenesis |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:7553856 |
RGD:1601232 |
NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
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G |
Mrps22 |
mitochondrial ribosomal protein S22 |
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ISO |
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29566152 |
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NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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G |
Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
|
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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G |
Sry |
sex determining region Y |
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ISO |
ClinVar Annotator: match by term: 46,XX sex reversal 1 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr Y:441,525...442,037
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G |
Sox9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: 46,XX sex reversal 2 |
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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G |
Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
|
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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G |
Nr2f2 |
nuclear receptor subfamily 2, group F, member 2 |
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ISO |
ClinVar Annotator: match by term: 46,xx sex reversal 5 |
OMIM ClinVar |
PMID:25741868 PMID:27363585 PMID:29478779 |
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NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
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G |
Mrps22 |
mitochondrial ribosomal protein S22 |
|
ISO |
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29566152 |
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NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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G |
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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G |
Dhh |
desert hedgehog signaling molecule |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy |
OMIM CTD ClinVar |
PMID:11017805 PMID:11891836 PMID:25927242 PMID:28589169 PMID:28708305 PMID:29471294 More...
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NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
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G |
Ar |
androgen receptor |
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ISO |
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY |
ClinVar |
PMID:25741868 |
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NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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G |
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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G |
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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G |
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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G |
Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
|
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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G |
Sry |
sex determining region Y |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27576690 PMID:2247151 PMID:8257986 |
RGD:1599179, RGD:1598780 |
NCBI chr Y:441,525...442,037
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G |
Sry |
sex determining region Y |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 1 |
OMIM ClinVar |
PMID:1339396 PMID:1415266 PMID:1438307 PMID:1483689 PMID:1570829 PMID:1619028 PMID:1639410 PMID:1734522 PMID:1956279 PMID:2247149 PMID:2247151 PMID:2401216 PMID:7717397 PMID:7718558 PMID:7981695 PMID:7985018 PMID:7987333 PMID:8019555 PMID:8105086 PMID:8257986 PMID:8353496 PMID:9150734 PMID:9443877 PMID:9450909 PMID:9521592 PMID:10670762 PMID:10843173 PMID:10852465 PMID:12107262 PMID:12409269 PMID:12793612 PMID:12919143 PMID:16510537 PMID:16675314 PMID:20528776 PMID:24003159 PMID:25741868 PMID:28492532 PMID:28787711 More...
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NCBI chr Y:441,525...442,037
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G |
Sox9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 10 |
ClinVar |
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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G |
Nr0b1 |
nuclear receptor subfamily 0, group B, member 1 |
|
ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 2 | ClinVar Annotator: match by term: 46XY sex reversal 2, dosage-sensitive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7990958 PMID:9195207 PMID:9486644 PMID:9529340 PMID:10599709 PMID:11748852 PMID:15841486 PMID:23512386 PMID:25741868 PMID:28492532 More...
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NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011
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G |
Gata4 |
GATA binding protein 4 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED |
ClinVar |
PMID:17643447 PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 PMID:21519287 PMID:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:28492532 PMID:32992319 More...
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NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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G |
Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
|
ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED |
OMIM ClinVar |
PMID:9536098 PMID:11932325 PMID:15070943 PMID:15472171 PMID:15579739 PMID:17200175 PMID:17576681 PMID:17694559 PMID:18414213 PMID:19246354 PMID:20887963 PMID:21691958 PMID:22028768 PMID:22474171 PMID:22549935 PMID:25122490 PMID:25326637 PMID:25741868 PMID:25989977 PMID:26523528 PMID:27169744 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27855412 PMID:27899157 PMID:28033660 PMID:28492532 PMID:29095814 PMID:29935645 PMID:30425642 PMID:31513305 PMID:31745530 PMID:31852928 PMID:32738419 PMID:33202802 PMID:33351340 PMID:35432193 PMID:35690514 PMID:35935368 PMID:36572623 More...
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NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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G |
Zfpm2 |
zinc finger protein, multitype 2 |
|
ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED |
ClinVar |
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25741868 PMID:27899157 PMID:28492532 PMID:31962012 More...
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NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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G |
Dmrt1 |
doublesex and mab-3 related transcription factor 1 |
|
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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G |
Cbx2 |
chromobox 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XY sex reversal 5 |
OMIM CTD ClinVar |
PMID:19361780 PMID:25741868 |
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NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
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G |
Map3k1 |
mitogen-activated protein kinase kinase kinase 1 |
|
ISO |
ClinVar Annotator: match by term: 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 6 |
OMIM ClinVar |
PMID:5419329 PMID:11242112 PMID:12476449 PMID:20301714 PMID:21129722 PMID:24135036 PMID:24497709 PMID:25326637 PMID:25383892 PMID:25741868 PMID:27899157 PMID:28492532 PMID:28504475 PMID:30608580 PMID:30872814 PMID:32985417 More...
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NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463
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G |
Dhh |
desert hedgehog signaling molecule |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XY sex reversal 7 | ClinVar Annotator: match by term: DHH-Related 46,XY complete gonadal dysgenesis |
OMIM CTD ClinVar |
PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535 |
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NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
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G |
Akr1c2 |
aldo-keto reductase family 1, member C2 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 8 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4352099 PMID:21802064 PMID:25741868 PMID:28106320 |
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NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
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G |
Zfpm2 |
zinc finger protein, multitype 2 |
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ISO |
ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 9 |
OMIM ClinVar |
PMID:9536098 PMID:14517948 PMID:17568391 PMID:17576681 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25107291 PMID:25741868 PMID:27899157 PMID:28166811 PMID:28492532 PMID:31962012 PMID:34008892 More...
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NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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G |
Dcaf17 |
DDB1 and CUL4 associated factor 17 |
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ISO |
ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820
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G |
Dhx37 |
DEAH-box helicase 37 |
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ISO |
ClinVar Annotator: match by term: Congenital absence of testes | ClinVar Annotator: match by term: TESTICULAR REGRESSION, EMBRYONIC |
OMIM ClinVar |
PMID:25741868 PMID:26539891 PMID:28492532 PMID:31287541 PMID:31337883 PMID:37240737 More...
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NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802
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G |
Cpe |
carboxypeptidase E |
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ISO |
ClinVar Annotator: match by term: BDV syndrome | ClinVar Annotator: match by term: BLAKEMORE-DURMAZ-VASILEIOU SYNDROME | ClinVar Annotator: match by term: CPE-related condition DNA:missense mutations:CDS:exon 2, c.361C>T p.Arg121|exon 6 c994del p.Ser333Alafx*22 |
OMIM ClinVar RGD |
PMID:25741868 PMID:26120850 PMID:28492532 PMID:34383079 PMID:35562395 PMID:34383079 More...
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RGD:405650667 |
NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233
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G |
Phf6 |
PHD finger protein 6 |
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ISO ISS |
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders OMIM:301900 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15580208 PMID:15994862 PMID:18414213 PMID:23906836 PMID:24092917 PMID:24728327 PMID:25099957 PMID:25741868 PMID:25741869 PMID:26648834 PMID:27633282 PMID:27698851 PMID:28492532 PMID:28539120 PMID:28554332 PMID:30403997 PMID:30630810 PMID:33772537 PMID:34041787 PMID:35662002 PMID:36999477 More...
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NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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G |
Mcoln1 |
mucolipin TRP cation channel 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3963113 PMID:8053762 PMID:9321767 PMID:16199547 PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25033069 PMID:25267340 PMID:25299038 PMID:25359264 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29248984 PMID:30555943 PMID:31135245 PMID:31780887 PMID:32623594 PMID:33141049 PMID:34234304 PMID:34445196 PMID:35069422 PMID:35872528 PMID:36825042 PMID:38735647 More...
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NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 PMID:17576681 PMID:18182448 PMID:19116240 PMID:21159840 PMID:21880796 PMID:23337730 PMID:24033266 PMID:25741868 PMID:26300845 PMID:27008691 PMID:28492532 PMID:29178636 PMID:30233493 PMID:30299480 PMID:30620006 PMID:31289154 PMID:34281122 More...
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NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME |
CTD OMIM ClinVar |
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 PMID:9536098 PMID:10196384 PMID:10767341 PMID:11809892 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:20122405 PMID:20456449 PMID:21143350 PMID:21228398 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:24033266 PMID:24154677 PMID:25136123 PMID:25326635 PMID:25356239 PMID:25463447 PMID:25741868 PMID:25820262 PMID:26206375 PMID:26218421 PMID:26620705 PMID:27004399 PMID:27186691 PMID:27356891 PMID:28170084 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 PMID:30111349 PMID:31130284 PMID:31501894 PMID:32453336 PMID:32496904 PMID:32504035 PMID:32557569 PMID:32853555 PMID:33904453 PMID:34005834 PMID:34052969 PMID:34853308 PMID:38177409 More...
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NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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G |
Lmna |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy |
OMIM ClinVar |
PMID:2007407 PMID:2270059 PMID:2733290 PMID:4684700 PMID:9500556 PMID:9536098 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11015599 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11344241 PMID:11792809 PMID:11897440 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12647844 PMID:12669268 PMID:12716787 PMID:12920062 PMID:12927424 PMID:12927431 PMID:13129702 PMID:14510863 PMID:14607793 PMID:14659775 PMID:14749366 PMID:14985400 PMID:15060110 PMID:15219508 PMID:15298354 PMID:15531479 PMID:15539782 PMID:15678000 PMID:15770669 PMID:15965218 PMID:16181372 PMID:16199547 PMID:16364671 PMID:16415042 PMID:16459536 PMID:16585054 PMID:16630578 PMID:16671095 PMID:16715312 PMID:17150192 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17576681 PMID:17711925 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18585512 PMID:18728124 PMID:18795223 PMID:18926329 PMID:19011997 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19283854 PMID:19318026 PMID:19401371 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19446900 PMID:19574635 PMID:19622949 PMID:19638735 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19882644 PMID:20074070 PMID:20130076 PMID:20155465 PMID:20160190 PMID:20307303 PMID:20497714 PMID:20625965 PMID:20662858 PMID:20848652 PMID:21479595 PMID:21520333 PMID:21831885 PMID:21840938 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22103509 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23582089 PMID:23702046 PMID:23804595 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24033266 PMID:24058181 PMID:24080738 PMID:24108105 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24846508 PMID:24943589 PMID:25025039 PMID:25163546 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25793944 PMID:25873806 PMID:25885670 PMID:26027246 PMID:26084686 PMID:26383259 PMID:26467025 PMID:26468400 PMID:26498160 PMID:26662654 PMID:26724531 PMID:26733286 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27153395 PMID:27332903 PMID:27405450 PMID:27421120 PMID:27447704 PMID:27504462 PMID:27506821 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27633507 PMID:27650965 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27884249 PMID:27896284 PMID:28082330 PMID:28087566 PMID:28254189 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28790152 PMID:28807990 PMID:28878402 PMID:29095976 PMID:29149195 PMID:29237675 PMID:29255176 PMID:29438482 PMID:29620724 PMID:29693488 PMID:29773157 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30165155 PMID:30165862 PMID:30287275 PMID:30326651 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30528549 PMID:30847666 PMID:30871747 PMID:31019283 PMID:31194872 PMID:31264968 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31521807 PMID:31539150 PMID:31744510 PMID:31794942 PMID:31829210 PMID:31836692 PMID:31931689 PMID:31977013 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32413188 PMID:32461654 PMID:32517491 PMID:32571898 PMID:32818388 PMID:32880476 PMID:32939435 PMID:33407844 PMID:33502018 PMID:33803652 PMID:33893211 PMID:33963534 PMID:34011823 PMID:34340952 PMID:34495297 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:35026164 PMID:35291351 PMID:35384599 PMID:35449878 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:37246508 PMID:37679847 More...
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Cbx2 |
chromobox 2 |
no_association |
ISO |
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RGD |
PMID:23219007 |
RGD:9586730 |
NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
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G |
Dmrt2 |
doublesex and mab-3 related transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Gonadal agenesis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:223,317,543...223,324,131
Ensembl chr 1:223,317,642...223,324,131
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G |
Fmr1 |
fragile X messenger ribonucleoprotein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22043169 |
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NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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G |
Fshr |
follicle stimulating hormone receptor |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis |
ClinVar |
PMID:10022448 PMID:22414334 PMID:28492532 |
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NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
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G |
Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
treatment |
IMP |
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RGD |
PMID:16467257 |
RGD:12904919 |
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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G |
Tspyl1 |
TSPY-like 1 |
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ISO |
sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 |
RGD |
PMID:15273283 |
RGD:1599672 |
NCBI chr20:38,082,003...38,084,562
Ensembl chr20:38,081,951...38,084,554 Ensembl chr20:38,081,951...38,084,554
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G |
Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis |
ClinVar |
PMID:25741868 |
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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G |
Rnf216 |
ring finger protein 216 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebellar ataxia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome |
OMIM CTD ClinVar |
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 PMID:32982993 More...
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NCBI chr12:11,454,752...11,576,305
Ensembl chr12:11,454,797...11,576,304
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G |
Plekhg5 |
pleckstrin homology and RhoGEF domain containing G5 |
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ISO |
ClinVar Annotator: match by term: Testicular atrophy |
ClinVar |
PMID:25741868 PMID:26392352 PMID:28492532 |
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NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
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G |
Slc30a7 |
solute carrier family 30 member 7 |
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ISO |
ClinVar Annotator: match by term: Testicular atrophy |
ClinVar |
PMID:25741868 PMID:36821639 |
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NCBI chr 2:203,855,484...203,922,155
Ensembl chr 2:203,859,175...203,922,132
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G |
Tp53 |
tumor protein p53 |
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IMP |
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RGD |
PMID:28834365 |
RGD:14995504 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Tp53em1Sage |
tumor protein p53; ZFN induced mutant 1, Sage |
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IMP |
compared to SD |
RGD |
PMID:28834365 |
RGD:14995504 |
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G |
Ccdc141 |
coiled-coil domain containing 141 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
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NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079
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G |
Gnrhr |
gonadotropin releasing hormone receptor |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia |
ClinVar |
PMID:7557974 PMID:9371856 PMID:10022417 PMID:10690855 PMID:10999776 PMID:11397842 PMID:11397871 PMID:12057744 PMID:12364481 PMID:12574221 PMID:12679486 PMID:15728205 PMID:17235395 PMID:20389088 PMID:20696889 PMID:21292259 PMID:21645587 PMID:21664240 PMID:22745237 PMID:23155690 PMID:23643382 PMID:23650335 PMID:25016926 PMID:25077900 PMID:25741868 PMID:26207952 PMID:26467025 PMID:26792935 PMID:28348023 PMID:28492532 PMID:29182666 PMID:30476149 PMID:33223529 PMID:33968656 PMID:34403359 PMID:36407308 More...
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NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
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G |
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:66,427,926...66,457,378
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 3:22,464,786...22,486,328
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:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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G |
Polr3b |
RNA polymerase III subunit B |
|
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 More...
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NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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G |
Pou6f2 |
POU class 6 homeobox 2 |
|
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 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
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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 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083
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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 6:44,008,333...44,010,354
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 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
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G |
Wfdc17 |
WAP four-disulfide core domain 17 |
|
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 chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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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 chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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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 |
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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 ISS |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia OMIM:614840 |
OMIM ClinVar MouseDO |
PMID:16199547 PMID:18422838 PMID:19079066 PMID:20194706 PMID:20332248 PMID:21300340 PMID:22031817 PMID:22035731 PMID:23329188 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32763379 PMID:33363893 More...
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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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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 chr15:41,972,482...41,976,690
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 |
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 chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
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Tacr3 |
tachykinin receptor 3 |
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ISO |
ClinVar Annotator: match by term: Isolated GnRH Deficiency |
ClinVar |
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NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
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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 |
OMIM MouseDO ClinVar |
PMID:22335740 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612
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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 |
OMIM ClinVar |
PMID:20887964 PMID:25741868 PMID:28492532 PMID:29263200 |
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NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
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Hs6st1 |
heparan sulfate 6-O-sulfotransferase 1 |
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ISO |
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 9:38,283,502...38,322,684
Ensembl chr 9:38,282,395...38,322,683
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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 4:21,282,398...21,754,834
Ensembl chr 4:21,287,982...21,494,432
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Spry4 |
sprouty RTK signaling antagonist 4 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 17 with or without anosmia |
OMIM ClinVar |
PMID:23643382 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32870266 |
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NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004
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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 |
OMIM ClinVar |
PMID:23643382 PMID:25636053 PMID:25741868 PMID:28492532 |
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NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556
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Dusp6 |
dual specificity phosphatase 6 |
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ISO |
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 7:34,092,848...34,097,186
Ensembl chr 7:34,092,943...34,097,185
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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 chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
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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 chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483
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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 chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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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 chr16:66,242,205...66,264,064
Ensembl chr16:66,242,212...66,264,061
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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 chr16:66,288,678...66,305,893
Ensembl chr16:66,288,678...66,308,663
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Brf2 |
BRF2, RNA polymerase III transcription initiation factor 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 chr16:64,928,334...64,933,057
Ensembl chr16:64,928,300...64,933,059
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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 chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023
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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 chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
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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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Fgfr1 |
Fibroblast growth factor receptor 1 |
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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:25157968 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 More...
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NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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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 |
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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 chr16:67,001,605...67,015,074
Ensembl chr16:67,001,605...67,015,074
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Letm2 |
leucine zipper and EF-hand containing transmembrane protein 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 chr16:66,464,958...66,489,640
Ensembl chr16:66,469,111...66,489,704
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Lsm1 |
LSM1 homolog, mRNA degradation associated |
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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 chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852
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Nsd3 |
nuclear receptor binding SET domain protein 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 chr16:66,354,030...66,466,202
Ensembl chr16:66,358,973...66,465,423
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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 |
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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 chr16:65,003,292...65,014,886
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 chr16:66,349,483...66,353,887
Ensembl chr16:66,349,502...66,464,797
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Prokr2 |
prokineticin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
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: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 chr16:64,886,902...64,917,491
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 chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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Tacc1 |
transforming, acidic coiled-coil containing 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 chr16:66,812,232...66,895,736
Ensembl chr16:66,812,295...66,895,733
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Tm2d2 |
TM2 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 chr16:67,016,683...67,022,206
Ensembl chr16:67,012,675...67,022,226
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Fgf17 |
fibroblast growth factor 17 |
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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: Hypogonadotropic hypogonadism 21 with or without anosmia |
OMIM ClinVar |
PMID:23643382 PMID:25741868 PMID:28492532 |
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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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Macrod2 |
mono-ADP ribosylhydrolase 2 |
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ISO |
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 3:127,720,066...129,737,511
Ensembl chr 3:127,720,181...129,734,492
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Fezf1 |
Fez family zinc finger 1 |
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ISO |
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 |
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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 |
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 1:95,898,269...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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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 3:93,548,560...93,552,370
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 4:94,944,392...94,981,871
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 8:72,490,447...72,799,265
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 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690
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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 |
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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 |
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:30311386 PMID:30430143 PMID:30476936 PMID:30576231 PMID:30669598 PMID:30773290 PMID:31093944 PMID:31781422 PMID:32400067 PMID:32763379 PMID:32870266 PMID:33227799 PMID:33411215 PMID:33468338 PMID:33587123 PMID:33729509 PMID:34348883 PMID:34539727 PMID:35090434 PMID:35173048 PMID:35669683 PMID:35922219 PMID:36694982 PMID:36843573 PMID:37642312 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 |
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: 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 4:132,346,681...132,361,754
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:21931733 PMID:21995344 PMID:22033296 PMID:22461308 PMID:22539353 PMID:23378218 PMID:23533228 PMID:23885230 PMID:24033266 PMID:25064402 PMID:25077900 PMID:25383892 PMID:25472840 PMID:25741868 PMID:25931334 PMID:26467025 PMID:26538304 PMID:26544072 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:31965297 PMID:32870266 PMID:34837038 PMID:36135330 More...
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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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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 4:20,297,534...20,555,287
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: 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 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:11017087 PMID:11527935 PMID:26992781 PMID:28492532 |
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NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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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 1:81,265,088...81,296,278
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 1:252,943,589...252,959,512
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 3:61,948,614...62,109,968
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 7:34,092,848...34,097,186
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 chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Gnrh1 |
gonadotropin releasing hormone 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19535795 |
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NCBI chr15:41,972,482...41,976,690
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: 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: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:30415482 PMID:30476149 PMID:32520725 PMID:32870266 PMID:33223529 PMID:33592857 PMID:33968656 PMID:34403359 PMID:36407308 PMID:17235395 More...
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RGD:11567265 |
NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
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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 9:38,283,502...38,322,684
Ensembl chr 9:38,282,395...38,322,683
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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 3:7,861,846...7,870,615
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 chr12:1,574,387...1,603,735
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 |
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:35316923 More...
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NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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G |
Prokr2 |
prokineticin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:18559922 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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G |
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 chr12:11,454,752...11,576,305
Ensembl chr12:11,454,797...11,576,304
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G |
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 4:20,297,534...20,555,287
Ensembl chr 4:20,299,718...20,555,229
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G |
Spry4 |
sprouty RTK signaling antagonist 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004
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G |
Sra1 |
steroid receptor RNA activator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr18:28,269,192...28,273,023
Ensembl chr18:28,269,311...28,272,538
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G |
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 7:63,562,552...63,569,170
Ensembl chr 7:63,562,552...63,569,170
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G |
Tacr3 |
tachykinin receptor 3 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:25636053 |
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NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
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G |
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 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
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G |
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:28492532 PMID:29758562 More...
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NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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G |
Kiss1r |
KISS1 receptor |
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ISO ISS |
OMIM:614837 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia |
OMIM MouseDO ClinVar |
PMID:12788881 PMID:12944565 PMID:14573733 PMID:17164310 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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G |
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 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614
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G |
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 chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Cdh1 |
cadherin 1 |
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ISO |
ClinVar Annotator: match by term: 4h syndrome |
ClinVar |
PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 PMID:36436516 More...
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NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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G |
Chek2 |
checkpoint kinase 2 |
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ISO |
ClinVar Annotator: match by term: 4h syndrome |
ClinVar |
PMID:15095295 PMID:21244692 PMID:22114986 PMID:22419737 PMID:22862163 PMID:23552953 PMID:24595525 PMID:25085752 PMID:25186627 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26483394 PMID:26681312 PMID:26787654 PMID:26845104 PMID:27443514 PMID:27621404 PMID:27751358 PMID:27779110 PMID:28008555 PMID:28135145 PMID:28492532 PMID:28495237 PMID:28944238 PMID:29368341 PMID:29520813 PMID:29922827 PMID:29945567 PMID:30128536 PMID:30269267 PMID:30287823 PMID:30303537 PMID:30322717 PMID:30426508 PMID:30613976 PMID:30680046 PMID:30851065 PMID:31050813 PMID:31159747 PMID:31263571 PMID:31341520 PMID:31398194 PMID:31447099 PMID:31784482 PMID:31948886 PMID:32227564 PMID:32658311 PMID:32805687 PMID:32830346 PMID:32881420 PMID:32885271 PMID:32906215 PMID:33030641 PMID:33193653 PMID:33471991 PMID:34072659 PMID:34271781 PMID:34637943 PMID:35128723 PMID:35245693 PMID:35643632 PMID:36136322 PMID:36315097 PMID:37449874 PMID:37628581 More...
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NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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G |
Gucy2e |
guanylate cyclase 2E |
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ISO |
ClinVar Annotator: match by term: POLR3-related leukodystrophy |
ClinVar |
PMID:16505055 PMID:17724218 PMID:21153841 PMID:23035049 PMID:25741868 PMID:26047050 PMID:26253563 PMID:26626312 PMID:28224992 PMID:28492532 More...
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NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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G |
Polr3a |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 | ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 PMID:17576681 PMID:20640464 PMID:21855841 PMID:22036171 PMID:22451160 PMID:22819058 PMID:22855961 PMID:23355746 PMID:23694757 PMID:23965854 PMID:25339210 PMID:25741868 PMID:26096995 PMID:26752647 PMID:27029625 PMID:27506977 PMID:27521716 PMID:27535217 PMID:27612211 PMID:27852030 PMID:28334938 PMID:28407788 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29451896 PMID:29618326 PMID:29691679 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30838315 PMID:30847471 PMID:30898877 PMID:31069529 PMID:31438894 PMID:31637490 PMID:31855841 PMID:31932101 PMID:31940116 PMID:32214227 PMID:32342562 PMID:32373668 PMID:32483275 PMID:32555393 PMID:32582862 PMID:32597037 PMID:32600288 PMID:32860008 PMID:33134517 PMID:33491183 PMID:33644862 PMID:33972714 PMID:34284285 PMID:34395528 PMID:34583988 PMID:34589056 PMID:36140376 PMID:36344503 PMID:36385762 PMID:36825045 PMID:37077564 PMID:37237429 More...
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NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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G |
Polr3b |
RNA polymerase III subunit B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy |
CTD ClinVar |
PMID:16199547 PMID:22036171 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:32180488 PMID:32319736 PMID:32345981 PMID:32870266 PMID:33726816 PMID:34440436 PMID:35316923 More...
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NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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G |
Rps24 |
ribosomal protein S24 |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy |
ClinVar |
PMID:22855961 PMID:25741868 PMID:27029625 |
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NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
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Tymp |
thymidine phosphorylase |
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ISO |
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome |
ClinVar |
PMID:25326637 PMID:25741868 PMID:27104957 PMID:28492532 |
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NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Nr0b1 |
nuclear receptor subfamily 0, group B, member 1 |
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ISO |
ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated |
ClinVar |
PMID:17164309 PMID:25741868 PMID:28492532 |
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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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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 5:21,812,007...21,995,358
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 1:244,584,477...244,590,578
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 chr16:66,491,930...66,547,161
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 chr12:1,574,387...1,603,735
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 |
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NCBI chr 7:110,712,528...110,724,234
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 4:132,346,681...132,361,754
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: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:23643381 |
RGD:12832748 |
NCBI chr 7:110,725,274...110,734,651
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 chr18:28,269,192...28,273,023
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 8:72,490,447...72,799,265
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 1:184,165,260...184,210,834
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 chr10:68,561,954...68,562,801
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:18834967 PMID:21158681 PMID:21931733 PMID:22033296 PMID:22461308 PMID:22539353 PMID:23533228 PMID:23885230 PMID:24033266 PMID:25064402 PMID:25077900 PMID:25383892 PMID:25741868 PMID:25931334 PMID:26467025 PMID:26666243 PMID:28492532 PMID:29255181 PMID:29255276 PMID:29419413 PMID:30311386 PMID:30733481 PMID:32870266 PMID:34837038 More...
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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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Fgf8 |
fibroblast growth factor 8 |
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ISO |
ClinVar Annotator: match by term: Kallmann syndrome 6 |
ClinVar |
PMID:22399515 PMID:23533228 PMID:25131394 PMID:25741868 PMID:26467025 PMID:26857713 PMID:28492532 PMID:29584859 More...
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NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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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 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079
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Gnrhr |
gonadotropin releasing hormone receptor |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:7557974 PMID:9371856 PMID:10022417 PMID:10690855 PMID:10999776 PMID:11397842 PMID:11397871 PMID:12057744 PMID:12364481 PMID:12574221 PMID:12679486 PMID:15728205 PMID:17235395 PMID:20389088 PMID:20696889 PMID:21292259 PMID:21645587 PMID:21664240 PMID:22745237 PMID:23155690 PMID:23643382 PMID:23650335 PMID:25016926 PMID:25077900 PMID:25741868 PMID:26207952 PMID:26467025 PMID:26792935 PMID:28348023 PMID:28492532 PMID:29182666 PMID:30476149 PMID:33223529 PMID:33968656 PMID:34403359 PMID:36407308 More...
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NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
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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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Nlgn3 |
neuroligin 3 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
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NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876
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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:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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Polr3b |
RNA polymerase III subunit B |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
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 More...
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NCBI chr 7:19,039,179...19,142,450
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: 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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Prok2 |
prokineticin 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
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Sema3f |
semaphorin 3F |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083
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Sox11 |
SRY-box transcription factor 11 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
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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 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
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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 chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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Bpnt1 |
3'(2'), 5'-bisphosphate nucleotidase 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,865,634...96,893,506
Ensembl chr13:96,868,580...96,893,503
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C13h1orf115 |
similar to human chromosome 1 open reading frame 115 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,422,308...96,432,044
Ensembl chr13:96,422,302...96,432,068
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Eprs1 |
glutamyl-prolyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966
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Iars2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501
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Lyplal1 |
lysophospholipase-like 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:97,626,568...97,657,901
Ensembl chr13:97,626,451...97,657,867
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Mark1 |
microtubule affinity regulating kinase 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,450,189...96,555,304
Ensembl chr13:96,451,487...96,555,173
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Mir194-1 |
microRNA 194-1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,851,166...96,851,248
Ensembl chr13:96,851,166...96,851,248
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Mtarc1 |
mitochondrial amidoxime reducing component 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,324,377...96,362,677
Ensembl chr13:96,339,757...96,397,796
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Mtarc2 |
mitochondrial amidoxime reducing component 2 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,362,810...96,397,284
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Rab3gap1 |
RAB3 GTPase activating protein catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:29300443 |
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NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
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Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cataract mental retardation hypogonadism | ClinVar Annotator: match by term: Martsolf syndrome |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:16532399 PMID:17576681 PMID:18414213 PMID:23420520 PMID:24033266 PMID:24891604 PMID:25533962 PMID:25640679 PMID:25741868 PMID:28492532 PMID:29300443 PMID:29419336 PMID:32740904 PMID:32870266 More...
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NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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Slc30a10 |
solute carrier family 30, member 10 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
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Tgfb2 |
transforming growth factor, beta 2 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Arhgap35 |
Rho GTPase activating protein 35 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:77,202,436...77,319,298
Ensembl chr 1:77,202,436...77,319,298
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Arhgap5 |
Rho GTPase activating protein 5 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Igsf10 |
immunoglobulin superfamily, member 10 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:143,575,710...143,605,044
Ensembl chr 2:143,576,070...143,604,773
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Klb |
klotho beta |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
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Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
OMIM ClinVar |
PMID:16532399 PMID:23420520 PMID:24891604 PMID:25741868 PMID:28492532 PMID:29300443 PMID:32740904 More...
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NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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Sema3a |
semaphorin 3A |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:22927827 PMID:25741868 |
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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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Tubb3 |
tubulin, beta 3 class III |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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Wfdc17 |
WAP four-disulfide core domain 17 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:11044805 PMID:15001591 PMID:25077900 PMID:25741868 |
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NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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Rab3gap1 |
RAB3 GTPase activating protein catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 2 |
OMIM ClinVar |
PMID:23420520 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29300443 PMID:30730599 PMID:33306828 More...
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NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
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Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Meacham Winn Culler syndrome | ClinVar Annotator: match by term: Meacham syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1302008 PMID:1317572 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8810912 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9916932 PMID:10470095 PMID:10505700 PMID:10603123 PMID:10762296 PMID:11182928 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:16439601 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:21499692 PMID:21508141 PMID:22099579 PMID:22172722 PMID:23295293 PMID:23325811 PMID:23497137 PMID:23515051 PMID:23562652 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25349199 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26725263 PMID:27013732 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29474669 PMID:30406062 PMID:30963316 PMID:31937884 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:34490048 PMID:35904974 PMID:38054408 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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Eif2s3 |
eukaryotic translation initiation factor 2 subunit gamma |
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ISO |
ClinVar Annotator: match by term: MEHMO syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 PMID:30878599 More...
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NCBI chr X:58,916,513...58,939,923
Ensembl chr X:58,917,490...58,940,686
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Ppp2r3c |
protein phosphatase 2, regulatory subunit B'', gamma |
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ISO |
ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME | ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy |
OMIM ClinVar |
PMID:8849014 PMID:25741868 PMID:30893644 PMID:34714774 PMID:34750818 PMID:35812758 More...
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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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Prorp |
protein only RNase P catalytic subunit |
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ISO |
ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME |
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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Fshr |
follicle stimulating hormone receptor |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 1 |
OMIM ClinVar |
PMID:7553856 PMID:8855829 PMID:9020851 PMID:9769327 PMID:9851774 PMID:10022448 PMID:10551778 PMID:11754099 PMID:11889179 PMID:12571157 PMID:12915623 PMID:15249125 PMID:15579795 PMID:15886248 PMID:16084888 PMID:16864747 PMID:17826728 PMID:18159088 PMID:19172541 PMID:19400992 PMID:20087398 PMID:20237833 PMID:21752882 PMID:22401810 PMID:22414334 PMID:23419799 PMID:25741868 PMID:28492532 PMID:29157895 PMID:30691934 PMID:31830376 More...
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NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
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Zswim7 |
zinc finger, SWIM-type containing 7 |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 10 |
OMIM ClinVar |
PMID:25741868 PMID:32719396 PMID:33713115 PMID:34402903 |
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NCBI chr10:46,953,311...46,969,800
Ensembl chr10:46,957,525...46,969,671
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Hrob |
homologous recombination factor with OB-fold |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 11 |
OMIM ClinVar |
PMID:34707299 PMID:38105698 |
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NCBI chr10:87,206,017...87,222,483
Ensembl chr10:87,206,049...87,222,483
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Bmp15 |
bone morphogenetic protein 15 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ovarian dysgenesis 2 | ClinVar Annotator: match by term: Premature ovarian failure 4 |
OMIM CTD ClinVar |
PMID:15136966 PMID:16464940 PMID:16508750 PMID:16645022 PMID:18614612 PMID:19263482 PMID:20364024 PMID:20547206 PMID:25741868 PMID:28492532 PMID:31957178 More...
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NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
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Mlx |
MAX dimerization protein MLX |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 3 |
ClinVar |
PMID:31042289 |
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NCBI chr10:86,019,216...86,024,326
Ensembl chr10:86,019,588...86,032,350
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Nrxn1 |
neurexin 1 |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710
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Psmc3ip |
PSMC3 interacting protein |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 3 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31042289 |
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NCBI chr10:86,024,281...86,027,928
Ensembl chr10:86,023,950...86,027,423
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Mcm9 |
minichromosome maintenance 9 homologous recombination repair factor |
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ISO |
ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4 |
OMIM ClinVar |
PMID:25480036 PMID:25741868 PMID:26771056 PMID:28492532 PMID:31042289 |
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NCBI chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600
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Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 5 |
OMIM ClinVar |
PMID:17301727 PMID:25741868 PMID:25774885 |
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NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
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Nup107 |
nucleoporin 107 |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 6 |
OMIM ClinVar |
PMID:25741868 PMID:26485283 PMID:28492532 PMID:34707299 |
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NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
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Mrps22 |
mitochondrial ribosomal protein S22 |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 7 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29566152 PMID:31042289 |
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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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Esr2 |
estrogen receptor 2 |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 8 |
ClinVar OMIM |
PMID:30113650 |
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NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Spidr |
scaffold protein involved in DNA repair |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 9 |
OMIM ClinVar |
PMID:25741868 PMID:27967308 PMID:34697795 |
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NCBI chr11:84,766,593...85,007,597
Ensembl chr11:84,766,593...85,007,600
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Rspo1 |
R-spondin 1 |
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ISO |
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism |
ClinVar |
PMID:18085567 |
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NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
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Rspo1 |
R-spondin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal |
OMIM CTD ClinVar |
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 |
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NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
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Clpp |
caseinolytic mitochondrial matrix peptidase proteolytic subunit |
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ISS ISO |
OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300 ClinVar Annotator: match by term: Perrault syndrome |
MouseDO ClinVar |
PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130 |
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NCBI chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693
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Eral1 |
Era-like 12S mitochondrial rRNA chaperone 1 |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:28449065 |
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NCBI chr10:62,961,725...62,968,747
Ensembl chr10:62,961,730...62,968,994
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Hars2 |
histidyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:517579 PMID:21464306 PMID:25741868 PMID:28492532 PMID:31827252 |
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NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747
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Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 PMID:10497229 PMID:11810648 PMID:15216544 PMID:16385454 PMID:17576681 PMID:20673864 PMID:22864515 PMID:23181892 PMID:23308274 PMID:24033266 PMID:24108619 PMID:25741868 PMID:25967389 PMID:26243799 PMID:26970254 PMID:27528516 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28649525 PMID:28708278 PMID:28830375 PMID:28973083 PMID:30396834 PMID:31455392 PMID:32904102 PMID:34732400 More...
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NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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Lars2 |
leucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 PMID:26970254 PMID:27650058 PMID:28492532 PMID:28832386 PMID:29205794 PMID:30311386 PMID:30737337 PMID:32747562 PMID:32767731 PMID:34997062 More...
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NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395
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Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 PMID:27551684 PMID:27650058 PMID:28178980 PMID:28492532 PMID:29458409 PMID:30799093 PMID:31055809 PMID:31455392 PMID:31852434 PMID:32234020 PMID:32281099 PMID:32619254 PMID:33095980 PMID:35035228 More...
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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Clpp |
caseinolytic mitochondrial matrix peptidase proteolytic subunit |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
PMID:30311386 |
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NCBI chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693
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Dap3 |
death associated protein 3 |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
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NCBI chr 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461
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Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Fshr |
follicle stimulating hormone receptor |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
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Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
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ISO |
ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 PMID:10497229 PMID:11810648 PMID:15216544 PMID:16385454 PMID:17576681 PMID:20673864 PMID:22864515 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:25526675 PMID:25741868 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27124789 PMID:27528516 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28649525 PMID:28708278 PMID:28830375 PMID:28973083 PMID:30396834 PMID:30561787 PMID:31230720 PMID:31455392 PMID:32747562 PMID:32904102 PMID:33539324 PMID:34645488 PMID:34719423 PMID:34732400 PMID:34906502 More...
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NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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Mrpl49 |
mitochondrial ribosomal protein L49 |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
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NCBI chr 1:203,346,068...203,350,040
Ensembl chr 1:203,332,481...203,350,049
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Prorp |
protein only RNase P catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
PMID:34715011 PMID:37558808 |
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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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Hars2 |
histidyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 2 |
OMIM ClinVar |
PMID:517579 PMID:21464306 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31449985 PMID:31486067 PMID:31827252 PMID:34416374 More...
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NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747
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Clpp |
caseinolytic mitochondrial matrix peptidase proteolytic subunit |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 3 |
OMIM ClinVar |
PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26467025 PMID:27087618 PMID:28492532 More...
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NCBI chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693
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Lars2 |
leucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 4 |
OMIM ClinVar |
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 PMID:26657938 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28708303 PMID:28832386 PMID:29205794 PMID:30311386 PMID:30737337 PMID:32399598 PMID:32442335 PMID:32747562 PMID:32842620 More...
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NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395
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Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 5 |
OMIM ClinVar |
PMID:25355836 PMID:25741868 PMID:26467025 PMID:27551684 PMID:27650058 PMID:28178980 PMID:28492532 PMID:29302074 PMID:31055809 PMID:31455392 PMID:31823625 PMID:32234020 PMID:32281099 PMID:32619254 PMID:33095980 PMID:33486010 PMID:35035228 More...
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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Eral1 |
Era-like 12S mitochondrial rRNA chaperone 1 |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 6 |
OMIM ClinVar |
PMID:25741868 PMID:28449065 |
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NCBI chr10:62,961,725...62,968,747
Ensembl chr10:62,961,730...62,968,994
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Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8265607 |
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NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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Akap14 |
A-kinase anchoring protein 14 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,395,512...116,410,697
Ensembl chr X:116,395,516...116,410,697
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Atp1b4 |
ATPase Na+/K+ transporting family member beta 4 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:117,087,284...117,108,023
Ensembl chr X:117,057,423...117,108,020
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C1galt1c1 |
C1GALT1-specific chaperone 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:117,378,123...117,382,620
Ensembl chr X:117,375,525...117,382,787
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Cul4b |
cullin 4B |
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ISO |
ClinVar Annotator: match by term: CABEZAS SYNDROME | ClinVar Annotator: match by term: CUL4B-related disorder | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 | ClinVar Annotator: match by term: Mental retardation with short stature, hypogonadism and abnormal gait, X-linked |
OMIM ClinVar |
PMID:8135271 PMID:9536098 PMID:10978355 PMID:17236139 PMID:17273978 PMID:17576681 PMID:17704778 PMID:18414213 PMID:19238151 PMID:25385192 PMID:25741868 PMID:26467025 PMID:28330790 PMID:28492532 PMID:28817236 More...
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NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688
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Dock11 |
dedicator of cytokinesis 11 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,131,720...115,314,854
Ensembl chr X:115,131,909...115,314,854
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Il13ra1 |
interleukin 13 receptor subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
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Kiaa1210 |
KIAA1210 homolog |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,675,412...115,725,950
Ensembl chr X:115,675,427...115,725,925
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Lamp2 |
lysosomal-associated membrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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Lonrf3 |
LON peptidase N-terminal domain and ring finger 3 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,565,214...115,603,886
Ensembl chr X:115,565,267...115,598,809
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Mcts1 |
MCTS1, re-initiation and release factor |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:117,350,723...117,362,504
Ensembl chr X:117,350,889...117,362,504
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Ndufa1 |
NADH:ubiquinone oxidoreductase subunit A1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,424,223...116,427,875
Ensembl chr X:116,424,223...116,428,633
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Nkap |
NFKB activating protein |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
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Nkrf |
NFKB repressing factor |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,126,341...116,144,554
Ensembl chr X:116,128,798...116,144,628
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Pgrmc1 |
progesterone receptor membrane component 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,832,865...115,841,060
Ensembl chr X:115,832,884...115,888,682
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Rhox13 |
Rhox homeobox family member 13 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,911,226...116,917,758
Ensembl chr X:116,911,329...116,917,644
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Rhoxf2b |
Rhox homeobox family member 2B |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,507,488...116,514,240
Ensembl chr X:116,507,488...116,513,870
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Rnf113a1 |
ring finger protein 113A1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,427,941...116,429,164
Ensembl chr X:116,427,684...116,433,762
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Rpl39 |
ribosomal protein L39 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,327,216...116,330,211
Ensembl chr18:6,326,330...6,326,692 Ensembl chr X:6,326,330...6,326,692
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Septin6 |
septin 6 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,153,255...116,230,334
Ensembl chr X:116,153,255...116,230,115
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Slc25a43 |
solute carrier family 25, member 43 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,977,437...116,011,789
Ensembl chr X:115,977,510...116,011,205
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Slc25a5 |
solute carrier family 25 member 5 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,031,896...116,034,963
Ensembl chr X:116,031,803...116,034,967
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Sowahd |
sosondowah ankyrin repeat domain family member D |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,292,030...116,293,660
Ensembl chr X:116,292,030...116,293,660
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Steep1 |
STING1 ER exit protein 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,087,626...116,114,159
Ensembl chr X:116,060,929...116,114,159
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Tmem255a |
transmembrane protein 255A |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,970,793...117,035,008
Ensembl chr X:116,970,695...117,035,008
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Ube2a |
ubiquitin-conjugating enzyme E2A |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,114,339...116,125,076
Ensembl chr X:116,113,875...116,125,070
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Upf3b |
UPF3B, regulator of nonsense mediated mRNA decay |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,335,308...116,353,332
Ensembl chr X:116,335,308...116,353,236
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Zbtb33 |
zinc finger and BTB domain containing 33 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,963,337...116,970,547
Ensembl chr X:116,963,347...116,971,023
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Zcchc12 |
zinc finger CCHC-type containing 12 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,433,444...115,436,691
Ensembl chr X:115,433,259...115,436,692
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Cat |
catalase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
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NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Gh1 |
growth hormone 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15151564 |
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NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Igf1 |
insulin-like growth factor 1 |
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ISO |
protein:decreased activity:serum: |
RGD |
PMID:17067837 |
RGD:12743588 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igfbp3 |
insulin-like growth factor binding protein 3 |
treatment |
ISO |
DNA:SNP: :¿¿¿202 A>C(rs2854744)(human) |
RGD |
PMID:17067837 PMID:22278433 |
RGD:12743588, RGD:12743598 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Nos2 |
nitric oxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
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NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Turner syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Vdr |
vitamin D receptor |
susceptibility |
ISO |
DNA:SNP: :rs7975232(human) |
RGD |
PMID:21823528 |
RGD:13432073 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Rab18 |
RAB18, member RAS oncogene family |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Warburg micro syndrome |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043
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Rab3gap1 |
RAB3 GTPase activating protein catalytic subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Warburg micro syndrome |
CTD ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747 |
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NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
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Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Warburg micro syndrome |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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Tbc1d20 |
TBC1 domain family, member 20 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121
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Rab3gap1 |
RAB3 GTPase activating protein catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: RAB3GAP1-related disorder | ClinVar Annotator: match by term: Warburg micro syndrome 1 |
OMIM ClinVar |
PMID:8249951 PMID:9536098 PMID:15216543 PMID:15696165 PMID:16199547 PMID:17351351 PMID:17576681 PMID:18286824 PMID:18414213 PMID:20512159 PMID:20584031 PMID:23176487 PMID:23420520 PMID:25326635 PMID:25741868 PMID:26138576 PMID:26421802 PMID:26467025 PMID:26852512 PMID:28454995 PMID:28492532 PMID:29300443 PMID:29878067 PMID:30202406 PMID:31319225 PMID:32740904 PMID:32870266 PMID:33951304 PMID:34702808 More...
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NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
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Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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ISO |
ClinVar Annotator: match by term: MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2 |
OMIM ClinVar |
PMID:16199547 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29300443 PMID:32740904 PMID:32870266 More...
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NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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Rab18 |
RAB18, member RAS oncogene family |
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ISO ISS |
OMIM:614222 ClinVar Annotator: match by term: Warburg micro syndrome 3 |
OMIM MouseDO ClinVar |
PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443 |
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NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043
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Tbc1d20 |
TBC1 domain family, member 20 |
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ISO ISS |
OMIM:615663 ClinVar Annotator: match by term: Warburg micro syndrome 4 |
OMIM MouseDO ClinVar |
PMID:24239381 PMID:25741868 PMID:32740904 |
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NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121
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Dcaf17 |
DDB1 and CUL4 associated factor 17 |
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ISO |
ClinVar Annotator: match by term: Woodhouse-Sakati syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:6876115 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 PMID:18049083 PMID:18175354 PMID:18414213 PMID:19026396 PMID:20507343 PMID:21044051 PMID:21964978 PMID:24015686 PMID:24088041 PMID:25326637 PMID:25741868 PMID:26612766 PMID:26633545 PMID:26664771 PMID:27489925 PMID:28492532 PMID:29178422 PMID:29546359 PMID:31323129 PMID:31347785 PMID:35876063 More...
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NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820
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Mettl8 |
methyltransferase 8, tRNA N3-cytidine |
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ISO |
ClinVar Annotator: match by term: Woodhouse-Sakati syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 PMID:19026396 PMID:20507343 PMID:25741868 PMID:26612766 PMID:28492532 PMID:31323129 More...
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NCBI chr 3:55,731,453...55,863,652
Ensembl chr 3:55,770,167...55,863,676
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Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked | ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome X-linked, 1 | ClinVar Annotator: match by term: Smith Fineman Myers syndrome 1 CTD Direct Evidence: marker/mechanism DNA:mutation:exon:c. 6740A>C (p.H224P)(human) DNA:nonsense mutation:exon:324C>T (p.R37X) (human) DNA:missense mutation:exon:c.3868G>A (p.R1272Q) (human) |
OMIM ClinVar CTD RGD |
PMID:3239563 PMID:6682021 PMID:6711605 PMID:7697714 PMID:8630485 PMID:8968741 PMID:9244431 PMID:9326931 PMID:10398234 PMID:10398237 PMID:10632111 PMID:10995512 PMID:11050622 PMID:12116232 PMID:15508018 PMID:15591283 PMID:16125058 PMID:16813605 PMID:16955409 PMID:18409179 PMID:18414213 PMID:20500465 PMID:21267006 PMID:22995991 PMID:23681356 PMID:24082139 PMID:24289169 PMID:24327140 PMID:24690944 PMID:24728327 PMID:24805811 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:25936994 PMID:26350204 PMID:26467025 PMID:28027854 PMID:28293299 PMID:28371217 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29706636 PMID:29910053 PMID:31130284 PMID:32595695 PMID:32712949 PMID:35709690 PMID:36292677 PMID:26997013 PMID:10632111 PMID:8630485 More...
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RGD:13442490, RGD:11040909, RGD:1599406 |
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Epor |
erythropoietin receptor |
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ISO |
ClinVar Annotator: match by term: Carpenter-Waziri syndrome |
ClinVar |
PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 |
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NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter-Waziri syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
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