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G |
CBX2 |
chromobox 2 |
no_association |
ISO |
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RGD |
PMID:23219007 |
RGD:9586730 |
NCBI chr17:73,858,381...73,867,811
Ensembl chr17:79,394,550...79,404,545
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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 9:860,271...867,704
Ensembl chr 9:1,055,473...1,060,962
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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:136,937,889...136,976,828
Ensembl chr X:147,365,748...147,405,321
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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 chr2A:49,088,450...49,287,688
Ensembl chr2A:50,008,328...50,207,258
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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 chr 9:95,605,282...95,628,773
Ensembl chr 9:124,122,968...124,149,292
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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 chr 6:114,079,317...114,082,540
Ensembl chr 6:118,226,765...118,228,081
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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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
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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 chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496
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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 chr2A:49,088,450...49,287,688
Ensembl chr2A:50,008,328...50,207,258
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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 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842
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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 chr 9:95,605,282...95,628,773
Ensembl chr 9:124,122,968...124,149,292
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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 |
ClinVar OMIM |
PMID:25741868 |
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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 OMIM |
PMID:21208124 PMID:22051515 |
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NCBI chr17:66,028,737...66,034,122
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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 chr 9:95,605,282...95,628,773
Ensembl chr 9:124,122,968...124,149,292
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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 chr15:75,008,879...75,021,981
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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 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842
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G |
WNT4 |
Wnt family member 4 |
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ISO |
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 chr 1:21,310,228...21,335,985
Ensembl chr 1:22,255,056...22,268,801
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G |
DHH |
desert hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy |
OMIM ClinVar |
PMID:11017805 PMID:11891836 PMID:25927242 PMID:28589169 PMID:28708305 PMID:29471294 More...
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NCBI chr12:39,656,046...39,661,439
Ensembl chr12:40,535,740...40,541,123
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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:56,722,828...56,909,004
Ensembl chr X:66,791,081...66,969,357
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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 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186
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G |
DHH |
desert hedgehog signaling molecule |
susceptibility |
ISO |
DNA:missense mutation:exon ClinVar Annotator: match by term: 46,XY DSD/46,XY CGD |
RGD ClinVar |
PMID:11017805 |
RGD:1601053 |
NCBI chr12:39,656,046...39,661,439
Ensembl chr12:40,535,740...40,541,123
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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 9:650,678...778,519
Ensembl chr 9:844,366...972,656
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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:10369247 PMID:11932325 PMID:15070943 |
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NCBI chr 9:95,605,282...95,628,773
Ensembl chr 9:124,122,968...124,149,292
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G |
SRY |
sex determining region Y |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:2247151 PMID:8257986 PMID:27576690 |
RGD:1598780 RGD:1599179 |
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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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G |
SOX9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 10 |
ClinVar OMIM |
PMID:6620326 PMID:22051515 PMID:25604083 |
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NCBI chr17:66,028,737...66,034,122
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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 chr X:22,903,403...22,908,527
Ensembl chr X:30,459,527...30,464,652
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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 chr 8:7,442,921...7,526,731
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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,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 9:95,605,282...95,628,773
Ensembl chr 9:124,122,968...124,149,292
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G |
ZFPM2 |
zinc finger protein, FOG family member 2 |
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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: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 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688
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G |
DMRT1 |
doublesex and mab-3 related transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 9:650,678...778,519
Ensembl chr 9:844,366...972,656
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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 chr17:73,858,381...73,867,811
Ensembl chr17:79,394,550...79,404,545
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G |
MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
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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 5:57,116,405...57,197,017
Ensembl chr 5:58,745,579...58,826,959
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G |
DHH |
desert hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 7 | ClinVar Annotator: match by term: DHH-Related 46,XY complete gonadal dysgenesis |
OMIM ClinVar |
PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535 |
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NCBI chr12:39,656,046...39,661,439
Ensembl chr12:40,535,740...40,541,123
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G |
AKR1C4 |
aldo-keto reductase family 1 member C4 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 8 | ClinVar Annotator: match by term: AKR1C4-related condition |
OMIM ClinVar |
PMID:4352099 PMID:21802064 PMID:25741868 PMID:28492532 |
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NCBI chr10:5,247,368...5,271,554
Ensembl chr10:5,234,188...5,258,201
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G |
ZFPM2 |
zinc finger protein, FOG family member 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 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688
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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:30582406 PMID:31287541 PMID:31337883 PMID:31745530 PMID:37240737 More...
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NCBI chr12:122,539,236...122,582,819
Ensembl chr12:126,823,006...126,865,933
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G |
CYP11A1 |
cytochrome P450 family 11 subfamily A member 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: 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:16705068 PMID:17576681 PMID:18182448 PMID:19116240 PMID:21159840 PMID:21880796 PMID:23337730 PMID:24033266 PMID:25741868 PMID:26300845 PMID:28492532 PMID:29178636 PMID:30233493 PMID:30299480 PMID:30620006 PMID:31289154 PMID:34281122 More...
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NCBI chr15:53,280,110...53,310,868
Ensembl chr15:72,901,286...72,931,164
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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:11503164 PMID:11792809 PMID:11897440 PMID:12032588 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12647844 PMID:12649505 PMID:12669268 PMID:12716787 PMID:12920062 PMID:12927424 PMID:12927431 PMID:13129702 PMID:14510863 PMID:14607793 PMID:14659775 PMID:14684700 PMID:14749366 PMID:14985400 PMID:15060110 PMID:15219508 PMID:15298354 PMID:15372542 PMID:15531479 PMID:15539782 PMID:15678000 PMID:15744034 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:17325275 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:18564364 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:19524666 PMID:19574635 PMID:19622949 PMID:19638735 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19882644 PMID:20074070 PMID:20130076 PMID:20155465 PMID:20160190 PMID:20301609 PMID:20301717 PMID:20307303 PMID:20497714 PMID:20625965 PMID:20662858 PMID:20848652 PMID:20980393 PMID:21479595 PMID:21520333 PMID:21632249 PMID:21831885 PMID:21840938 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22068161 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:22883396 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:24033266 PMID:24058181 PMID:24080738 PMID:24108105 PMID:24375749 PMID:24459210 PMID:24503780 PMID:24623722 PMID:24846508 PMID:24915601 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:26743238 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:29709087 PMID:29773157 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30287275 PMID:30326651 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30528549 PMID:30595509 PMID:30739589 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:32685188 PMID:32818388 PMID:32880476 PMID:32913962 PMID:32939435 PMID:33304817 PMID:33407844 PMID:33502018 PMID:33803652 PMID:33887581 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:36971006 PMID:37246508 PMID:37679847 More...
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NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
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G |
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: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 chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
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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 chr14:15,834,603...15,871,741
Ensembl chr14:34,020,893...34,056,842
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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 chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657
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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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Ensembl chr X:49,058,622...49,067,821
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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 chr2A:49,088,450...49,287,688
Ensembl chr2A:50,008,328...50,207,258
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HROB |
homologous recombination factor with OB-fold |
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ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 11 |
ClinVar OMIM |
PMID:34707299 PMID:38105698 |
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NCBI chr17:13,233,464...13,254,726
Ensembl chr17:13,395,473...13,409,505
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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 chr X:43,071,039...43,076,941
Ensembl chr X:50,783,925...50,791,369
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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 chr17:14,743,314...14,749,484
Ensembl chr17:14,967,236...14,972,875
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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 chr2A:50,063,398...51,178,659
Ensembl chr2A:50,985,067...52,091,277
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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 chr17:14,738,205...14,744,215
Ensembl chr17:14,961,602...14,967,639
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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 chr 6:116,620,188...116,743,435
Ensembl chr 6:120,763,329...120,881,865
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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 chr 9:106,765,101...106,786,836
Ensembl chr 9:135,755,100...135,761,228
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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 chr12:66,198,838...66,254,505
Ensembl chr12:68,981,409...69,035,642
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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 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842
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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 chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
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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 chr 8:43,691,454...44,166,259
Ensembl chr 8:41,083,964...41,558,170
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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 1:36,885,176...36,907,821
Ensembl chr 1:38,231,764...38,256,903
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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 chr 1:36,885,176...36,907,821
Ensembl chr 1:38,231,764...38,256,903
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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 chr19:5,382,323...5,389,788
Ensembl chr19:6,304,462...6,312,077
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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 chr17:27,913,117...27,919,167
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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 chr 5:114,842,892...114,928,559
Ensembl chr 5:120,628,605...120,713,860
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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 3:45,296,129...45,455,836
Ensembl chr 3:46,405,636...46,564,994
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LOC100969951 |
histidine--tRNA ligase, 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 chr 5:136,056,060...136,065,588
Ensembl chr 5:142,172,081...142,179,950
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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 chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
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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 chr19:5,382,323...5,389,788
Ensembl chr19:6,304,462...6,312,077
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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 1:131,024,977...131,072,860
Ensembl chr 1:134,876,063...134,905,280
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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 chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
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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 chr2A:49,088,450...49,287,688
Ensembl chr2A:50,008,328...50,207,258
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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 chr 1:131,084,009...131,193,884
Ensembl chr 1:134,917,791...135,020,042
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HSD17B4 |
hydroxysteroid 17-beta dehydrogenase 4 |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness | 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 chr 5:114,842,892...114,928,559
Ensembl chr 5:120,628,605...120,713,860
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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 chr11:60,484,645...60,489,718
Ensembl chr11:63,823,018...63,828,127
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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 chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657
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YY1AP1 |
YY1 associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
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NCBI chr 1:130,995,949...131,024,985
Ensembl chr 1:134,594,908...134,623,588
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LOC100969951 |
histidine--tRNA ligase, 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 chr 5:136,056,060...136,065,588
Ensembl chr 5:142,172,081...142,179,950
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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:24033266 PMID:24824130 PMID:25741868 PMID:26467025 PMID:27087618 PMID:28492532 More...
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NCBI chr19:5,382,323...5,389,788
Ensembl chr19:6,304,462...6,312,077
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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:30831263 PMID:32399598 PMID:32442335 PMID:32747562 PMID:32842620 More...
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NCBI chr 3:45,296,129...45,455,836
Ensembl chr 3:46,405,636...46,564,994
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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: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 chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407
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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 chr17:27,913,117...27,919,167
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CYP19A1 |
cytochrome P450 family 19 subfamily A member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8265607 |
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NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
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CAT |
catalase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
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NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
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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 chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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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 chr 7:46,564,234...46,573,145
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LOC100971425 |
somatotropin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15151564 |
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NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067
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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 chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
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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 chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
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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 chr21:18,029,831...18,037,526
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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 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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VDR |
vitamin D receptor |
susceptibility |
ISO |
DNA:SNP: :rs7975232(human) |
RGD |
PMID:21823528 |
RGD:13432073 |
NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
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