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G |
Cbx2 |
chromobox 2 |
no_association |
ISO |
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RGD |
PMID:23219007 |
RGD:9586730 |
NCBI chrNW_004955506:3,045,395...3,053,003
Ensembl chrNW_004955506:3,046,607...3,053,001
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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 chrNW_004955434:5,528,625...5,535,783
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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 chrNW_004955498:566,741...594,837
Ensembl chrNW_004955498:566,688...595,360
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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 chrNW_004955441:15,422,190...15,585,446
Ensembl chrNW_004955441:15,422,190...15,585,537
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G |
Nr5a1 |
nuclear receptor subfamily 5 group A member 1 |
treatment |
ISO |
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RGD |
PMID:16467257 |
RGD:12904919 |
NCBI chrNW_004955419:3,632,248...3,654,367
Ensembl chrNW_004955419:3,632,220...3,654,375
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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 chrNW_004955526:539,178...552,120
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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 chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473
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G |
Fancl |
FA complementation group L |
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ISO |
OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 |
MouseDO |
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NCBI chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180
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G |
Fshr |
follicle stimulating hormone receptor |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis, XX type | ClinVar Annotator: match by term: Ovarian dysgenesis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955441:15,422,190...15,585,446
Ensembl chrNW_004955441:15,422,190...15,585,537
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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 chrNW_004955508:6,232,514...6,246,593
Ensembl chrNW_004955508:6,232,514...6,246,633
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G |
Nr5a1 |
nuclear receptor subfamily 5 group A member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19246354 |
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NCBI chrNW_004955419:3,632,248...3,654,367
Ensembl chrNW_004955419:3,632,220...3,654,375
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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 |
OMIM ClinVar |
PMID:21208124 PMID:22051515 |
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NCBI chrNW_004955478:941,684...945,563
Ensembl chrNW_004955478:940,177...945,563
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G |
Nr5a1 |
nuclear receptor subfamily 5 group A member 1 |
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ISO |
ClinVar Annotator: match by term: 46,XX sex reversal 4 |
OMIM ClinVar |
PMID:11932325 PMID:22549935 PMID:25741868 PMID:26523528 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27855412 PMID:28033660 PMID:28492532 More...
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NCBI chrNW_004955419:3,632,248...3,654,367
Ensembl chrNW_004955419:3,632,220...3,654,375
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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 chrNW_004955416:24,148,052...24,154,406
Ensembl chrNW_004955416:24,141,888...24,168,585
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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 chrNW_004955508:6,232,514...6,246,593
Ensembl chrNW_004955508:6,232,514...6,246,633
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G |
Wnt4 |
Wnt family member 4 |
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ISO |
ClinVar Annotator: match by term: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS | ClinVar Annotator: match by term: SERKAL syndrome | ClinVar Annotator: match by term: WNT4-related condition |
OMIM ClinVar |
PMID:18179883 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955452:2,319,446...2,344,740
Ensembl chrNW_004955452:2,319,446...2,344,989
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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 chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069
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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 chrNW_004955444:17,859,999...18,067,623
Ensembl chrNW_004955444:17,858,771...18,067,248
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G |
Dmrt1 |
doublesex and mab-3 related transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955434:5,341,519...5,448,049
Ensembl chrNW_004955434:5,341,286...5,448,235
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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 chrNW_004955419:3,632,248...3,654,367
Ensembl chrNW_004955419:3,632,220...3,654,375
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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 |
OMIM ClinVar |
PMID:6620326 PMID:22051515 PMID:25604083 |
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NCBI chrNW_004955478:941,684...945,563
Ensembl chrNW_004955478:940,177...945,563
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G |
Nr0b1 |
nuclear receptor subfamily 0 group B member 1 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 2 | ClinVar Annotator: match by term: 46XY sex reversal 2, dosage-sensitive |
OMIM ClinVar |
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 chrNW_004955531:567,491...572,329
Ensembl chrNW_004955531:567,173...572,331
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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 chrNW_004955403:52,958,318...53,029,267
Ensembl chrNW_004955403:52,987,644...53,029,267
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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 chrNW_004955419:3,632,248...3,654,367
Ensembl chrNW_004955419:3,632,220...3,654,375
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G |
Zfpm2 |
zinc finger protein, FOG family member 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 chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271
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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 chrNW_004955434:5,341,519...5,448,049
Ensembl chrNW_004955434:5,341,286...5,448,235
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G |
Cbx2 |
chromobox 2 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 5 | ClinVar Annotator: match by term: CBX2-related condition |
OMIM ClinVar |
PMID:19361780 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955506:3,045,395...3,053,003
Ensembl chrNW_004955506:3,046,607...3,053,001
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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 chrNW_004955446:11,022,091...11,090,136
Ensembl chrNW_004955446:11,021,971...11,090,136
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G |
Zfpm2 |
zinc finger protein, FOG family member 2 |
|
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 chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271
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G |
Dhx37 |
DEAH-box helicase 37 |
|
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:30582406 PMID:31287541 PMID:31337883 PMID:31745530 PMID:37240737 More...
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NCBI chrNW_004955482:4,733,720...4,754,754
Ensembl chrNW_004955482:4,731,675...4,756,632
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G |
LOC102014960 |
cholesterol side-chain cleavage enzyme, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: CYP11A1-related condition | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY |
OMIM ClinVar |
PMID:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16199547 PMID:16705068 PMID:17576681 PMID:18182448 PMID:19116240 PMID:21159840 PMID:21880796 PMID:22435390 PMID:23337730 PMID:24033266 PMID:25741868 PMID:26300845 PMID:27008691 PMID:27855232 PMID:28492532 PMID:29178636 PMID:30233493 PMID:30299480 PMID:30620006 PMID:31289154 PMID:34281122 PMID:229968487 More...
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NCBI chrNW_004955450:3,433,310...3,484,462
Ensembl chrNW_004955450:3,474,491...3,484,232
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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 | ClinVar Annotator: match by term: NAJJAR SYNDROME |
OMIM ClinVar |
PMID:262236 PMID:2007407 PMID:2270059 PMID:2733290 PMID:4684700 PMID:4740717 PMID:8619549 PMID:9106535 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10814726 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11015599 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11344241 PMID:11503164 PMID:11792809 PMID:11799477 PMID:11897440 PMID:12032588 PMID:12075506 PMID:12376891 PMID:12467734 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12649505 PMID:12669268 PMID:12673789 PMID:12702809 PMID:12716787 PMID:12788894 PMID:12920062 PMID:12927424 PMID:12927431 PMID:12938084 PMID:13129702 PMID:14510863 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14684700 PMID:14749366 PMID:14985400 PMID:15053843 PMID:15060110 PMID:15219508 PMID:15298354 PMID:15372542 PMID:15473259 PMID:15475483 PMID:15531479 PMID:15539782 PMID:15678000 PMID:15744034 PMID:15770669 PMID:15843404 PMID:15965218 PMID:16046620 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16278265 PMID:16364671 PMID:16386954 PMID:16407522 PMID:16415042 PMID:16459536 PMID:16584978 PMID:16585054 PMID:16630578 PMID:16671095 PMID:16705075 PMID:16715312 PMID:16809772 PMID:17107595 PMID:17136397 PMID:17150192 PMID:17250669 PMID:17250699 PMID:17274801 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17612587 PMID:17711925 PMID:17760566 PMID:17848409 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18035816 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18564364 PMID:18585512 PMID:18604166 PMID:18646565 PMID:18728124 PMID:18795223 PMID:18796515 PMID:18808171 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:19524666 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19764019 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19875478 PMID:19882644 PMID:20074070 PMID:20130076 PMID:20155465 PMID:20160190 PMID:20301609 PMID:20301717 PMID:20307303 PMID:20497714 PMID:20625965 PMID:20627339 PMID:20662858 PMID:20848652 PMID:20980393 PMID:21400569 PMID:21462202 PMID:21479595 PMID:21520333 PMID:21632249 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22068161 PMID:22071332 PMID:22103509 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22355414 PMID:22431096 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:22761994 PMID:22883396 PMID:22918509 PMID:23062543 PMID:23142632 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23582089 PMID:23702046 PMID:23783098 PMID:23804595 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24058181 PMID:24080738 PMID:24108105 PMID:24375749 PMID:24459210 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24794538 PMID:24846508 PMID:24861648 PMID:24915601 PMID:24943589 PMID:24990833 PMID:25025039 PMID:25163546 PMID:25210889 PMID:25274841 PMID:25286833 PMID:25324471 PMID:25371241 PMID:25448463 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25793944 PMID:25823658 PMID:25873806 PMID:25885670 PMID:26027246 PMID:26084686 PMID:26332594 PMID:26383259 PMID:26383716 PMID:26404900 PMID:26443318 PMID:26467025 PMID:26468400 PMID:26498160 PMID:26573435 PMID:26662654 PMID:26724531 PMID:26733286 PMID:26743238 PMID:26756202 PMID:26899768 PMID:26900797 PMID:26976018 PMID:27000522 PMID:27153395 PMID:27182706 PMID:27220833 PMID:27332903 PMID:27405450 PMID:27421120 PMID:27447704 PMID:27498076 PMID:27504462 PMID:27506821 PMID:27529282 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27633507 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27845687 PMID:27884249 PMID:27896284 PMID:27919367 PMID:28074886 PMID:28082330 PMID:28087566 PMID:28254189 PMID:28255936 PMID:28341588 PMID:28349240 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:28874324 PMID:28878402 PMID:29095976 PMID:29121657 PMID:29149195 PMID:29237675 PMID:29237690 PMID:29253866 PMID:29255176 PMID:29431110 PMID:29438482 PMID:29540472 PMID:29551499 PMID:29557732 PMID:29620724 PMID:29693488 PMID:29709087 PMID:29773157 PMID:29791652 PMID:29892087 PMID:29895224 PMID:29943882 PMID:29952368 PMID:29961767 PMID:29970176 PMID:30007954 PMID:30012837 PMID:30055862 PMID:30122538 PMID:30137533 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30488537 PMID:30528549 PMID:30564623 PMID:30595509 PMID:30739589 PMID:30765282 PMID:30847666 PMID:30871747 PMID:30919684 PMID:31019283 PMID:31194872 PMID:31264968 PMID:31270292 PMID:31303467 PMID:31383942 PMID:31428229 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31521807 PMID:31525256 PMID:31539150 PMID:31744510 PMID:31794942 PMID:31829210 PMID:31836692 PMID:31857427 PMID:31931689 PMID:31977013 PMID:31980526 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32413188 PMID:32456328 PMID:32461654 PMID:32508047 PMID:32517491 PMID:32571898 PMID:32616434 PMID:32685188 PMID:32698523 PMID:32727917 PMID:32746448 PMID:32792077 PMID:32793522 PMID:32818388 PMID:32826072 PMID:32880476 PMID:32913962 PMID:32939435 PMID:33038109 PMID:33258288 PMID:33304817 PMID:33407844 PMID:33422685 PMID:33458588 PMID:33502018 PMID:33673806 PMID:33713793 PMID:33803191 PMID:33803652 PMID:33887581 PMID:33893211 PMID:33916827 PMID:33963534 PMID:34011823 PMID:34135346 PMID:34240052 PMID:34340952 PMID:34363016 PMID:34461741 PMID:34495297 PMID:34680903 PMID:34720847 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34975533 PMID:34999423 PMID:35026164 PMID:35291351 PMID:35384599 PMID:35449878 PMID:35470680 PMID:35526016 PMID:35535697 PMID:35772917 PMID:35898701 PMID:36264615 PMID:36267857 PMID:36293084 PMID:36397776 PMID:36646731 PMID:36704457 PMID:36971006 PMID:37246508 PMID:37589201 PMID:37652022 PMID:37679847 PMID:37685926 PMID:37904629 PMID:38247853 PMID:38473809 PMID:38489124 PMID:38691546 More...
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NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
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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 |
OMIM ClinVar |
PMID:1302008 PMID:1317572 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8621495 PMID:8810912 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9916932 PMID:10094551 PMID:10505699 PMID:10561752 PMID:10603123 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:12050205 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15483024 PMID:15509792 PMID:16439601 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:21499692 PMID:21508141 PMID:22099579 PMID:22172722 PMID:22815844 PMID:22908070 PMID:23295293 PMID:23302619 PMID:23325811 PMID:23349334 PMID:23497137 PMID:23515051 PMID:23562652 PMID:23715653 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25349199 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26725263 PMID:27013732 PMID:27300205 PMID:27719739 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:29869118 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31937884 PMID:31970404 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:33742552 PMID:34386660 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35655039 PMID:35904974 PMID:36110220 PMID:36245711 PMID:36964972 PMID:36980135 PMID:38054408 More...
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NCBI chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473
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Fam177a1 |
family with sequence similarity 177 member A1 |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy |
ClinVar |
PMID:8849014 PMID:30893644 PMID:34714774 PMID:34750818 PMID:35812758 |
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NCBI chrNW_004955409:25,946,694...25,969,387
Ensembl chrNW_004955409:25,946,694...25,969,387
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Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: 46,XY agonadism with mental retardation, short stature, retarded bone age, and multiple extragenital malformations |
ClinVar |
PMID:15930273 PMID:17376864 PMID:18074223 PMID:22120714 PMID:22658544 PMID:22949682 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25741868 PMID:28492532 PMID:29446767 PMID:34008892 More...
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NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
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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 chrNW_004955409:25,920,973...25,943,985
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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 chrNW_004955409:25,791,209...25,920,651
Ensembl chrNW_004955409:25,791,575...25,920,077
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Slc35a2 |
solute carrier family 35 member A2 |
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ISO |
ClinVar Annotator: match by term: 46,XY agonadism with mental retardation, short stature, retarded bone age, and multiple extragenital malformations |
ClinVar |
PMID:25741868 PMID:34161696 |
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NCBI chrNW_004955543:434,265...443,460
Ensembl chrNW_004955543:434,405...443,508
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Fshr |
follicle stimulating hormone receptor |
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ISO |
ClinVar Annotator: match by term: FSHR-related condition | 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 chrNW_004955441:15,422,190...15,585,446
Ensembl chrNW_004955441:15,422,190...15,585,537
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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 chrNW_004955467:1,364,044...1,381,101
Ensembl chrNW_004955467:1,364,372...1,381,083
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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 chrNW_004955451:17,256,593...17,264,872
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Bmp15 |
bone morphogenetic protein 15 |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 2 | ClinVar Annotator: match by term: Premature ovarian failure 4 |
OMIM 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 chrNW_004955543:2,304,112...2,345,376
Ensembl chrNW_004955543:2,339,659...2,345,406
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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 chrNW_004955451:16,460,737...16,464,529
Ensembl chrNW_004955451:16,459,879...16,464,529
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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 chrNW_004955441:16,230,977...17,178,003
Ensembl chrNW_004955441:16,234,070...17,178,005
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Psmc3ip |
PSMC3 interacting protein |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 3 | ClinVar Annotator: match by term: PSMC3IP-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31042289 |
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NCBI chrNW_004955451:16,464,233...16,467,896
Ensembl chrNW_004955451:16,464,233...16,467,896
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Mcm9 |
minichromosome maintenance 9 homologous recombination repair factor |
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ISO |
ClinVar Annotator: match by term: MCM9-related condition | 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 chrNW_004955436:1,642,337...1,661,362
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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:20506135 PMID:25741868 PMID:25774885 PMID:28492532 PMID:28718531 More...
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NCBI chrNW_004955513:4,767,591...4,771,654
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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 chrNW_004955458:15,148,773...15,201,717
Ensembl chrNW_004955458:15,149,054...15,201,635
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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 chrNW_004955508:6,232,514...6,246,593
Ensembl chrNW_004955508:6,232,514...6,246,633
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Esr2 |
estrogen receptor 2 |
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ISO |
ClinVar Annotator: match by term: ESR2-related condition | ClinVar Annotator: match by term: Ovarian dysgenesis 8 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30113650 |
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NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946
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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 chrNW_004955454:7,360,144...7,710,077
Ensembl chrNW_004955454:7,359,670...7,711,680
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G |
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 chrNW_004955452:15,415,417...15,435,616
Ensembl chrNW_004955452:15,415,932...15,435,656
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G |
Rspo1 |
R-spondin 1 |
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ISO |
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | ClinVar Annotator: match by term: RSPO1-related condition |
OMIM ClinVar |
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955452:15,415,417...15,435,616
Ensembl chrNW_004955452:15,415,932...15,435,656
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Clpp |
caseinolytic mitochondrial matrix peptidase proteolytic subunit |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130 |
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NCBI chrNW_004955495:3,224,968...3,233,482
Ensembl chrNW_004955495:3,223,709...3,233,562
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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 chrNW_004955481:4,315,139...4,320,983
Ensembl chrNW_004955481:4,315,586...4,319,202
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G |
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 chrNW_004955418:12,550...19,282
Ensembl chrNW_004955418:12,550...19,282
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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:31230720 PMID:31455392 PMID:32904102 PMID:34534157 PMID:34732400 More...
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NCBI chrNW_004955408:39,041,028...39,136,867
Ensembl chrNW_004955408:39,040,840...39,138,338
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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 chrNW_004955420:26,342,129...26,446,959
Ensembl chrNW_004955420:26,343,649...26,441,736
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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 chrNW_004955485:9,193,838...9,198,697
Ensembl chrNW_004955485:9,191,919...9,198,697
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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 chrNW_004955495:3,224,968...3,233,482
Ensembl chrNW_004955495:3,223,709...3,233,562
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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 chrNW_004955545:1,951,008...1,981,174
Ensembl chrNW_004955545:1,951,150...1,980,861
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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 chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761
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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 chrNW_004955441:15,422,190...15,585,446
Ensembl chrNW_004955441:15,422,190...15,585,537
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Gon4l |
gon-4 like |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
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NCBI chrNW_004955545:1,990,202...2,054,614
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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 |
OMIM 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:23332201 PMID:24033266 PMID:24108619 PMID:24553428 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:34534157 PMID:34645488 PMID:34719423 PMID:34732400 PMID:34906502 More...
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NCBI chrNW_004955408:39,041,028...39,136,867
Ensembl chrNW_004955408:39,040,840...39,138,338
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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 chrNW_004955422:20,075,739...20,078,278
Ensembl chrNW_004955422:20,075,739...20,078,278
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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 chrNW_004955409:25,791,209...25,920,651
Ensembl chrNW_004955409:25,791,575...25,920,077
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G |
Hars2 |
histidyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: HARS2-related condition | ClinVar Annotator: match by term: Perrault syndrome 2 |
OMIM ClinVar |
PMID:517579 PMID:21464306 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:31449985 PMID:31486067 PMID:31827252 PMID:34416374 More...
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NCBI chrNW_004955418:12,550...19,282
Ensembl chrNW_004955418:12,550...19,282
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G |
Clpp |
caseinolytic mitochondrial matrix peptidase proteolytic subunit |
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ISO |
ClinVar Annotator: match by term: CLPP-related condition | ClinVar Annotator: match by term: Perrault syndrome 3 |
OMIM ClinVar |
PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:23851121 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26467025 PMID:27087618 PMID:27899912 PMID:28492532 PMID:30311386 PMID:31455392 More...
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NCBI chrNW_004955495:3,224,968...3,233,482
Ensembl chrNW_004955495:3,223,709...3,233,562
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G |
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:30831263 PMID:32399598 PMID:32442335 PMID:32747562 PMID:32842620 More...
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NCBI chrNW_004955420:26,342,129...26,446,959
Ensembl chrNW_004955420:26,343,649...26,441,736
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G |
Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 5 |
OMIM ClinVar |
PMID:18593709 PMID:25355836 PMID:25741868 PMID:26467025 PMID:27551684 PMID:27650058 PMID:28178980 PMID:28492532 PMID:29302074 PMID:30311386 PMID:31055809 PMID:31455392 PMID:31823625 PMID:32234020 PMID:32281099 PMID:32619254 PMID:33095980 PMID:33486010 PMID:35035228 PMID:37302426 More...
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NCBI chrNW_004955485:9,193,838...9,198,697
Ensembl chrNW_004955485:9,191,919...9,198,697
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G |
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 chrNW_004955481:4,315,139...4,320,983
Ensembl chrNW_004955481:4,315,586...4,319,202
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G |
LOC102023780 |
aromatase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8265607 |
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NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142
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G |
Cat |
catalase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
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NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
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G |
Igf1 |
insulin like growth factor 1 |
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ISO |
protein:decreased activity:serum: |
RGD |
PMID:17067837 |
RGD:12743588 |
NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
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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 chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845
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G |
Nos2 |
nitric oxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
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NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Turner syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
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NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
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NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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G |
Vdr |
vitamin D receptor |
susceptibility |
ISO |
DNA:SNP: :rs7975232(human) |
RGD |
PMID:21823528 |
RGD:13432073 |
NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
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