|
G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy OMIM:300100 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 PMID:7581394 PMID:7668254 PMID:7677014 PMID:7717396 PMID:7811247 PMID:7825602 PMID:7849718 PMID:7849723 PMID:7860075 PMID:7876858 PMID:7894167 PMID:7904210 PMID:7998779 PMID:8040304 PMID:8048932 PMID:8353949 PMID:8441467 PMID:8535450 PMID:8535452 PMID:8566952 PMID:8621506 PMID:8651290 PMID:8773611 PMID:8888042 PMID:8889593 PMID:8892025 PMID:9051655 PMID:9088111 PMID:9195223 PMID:9212180 PMID:9242200 PMID:9384614 PMID:9425230 PMID:9452087 PMID:9536098 PMID:9551465 PMID:9553942 PMID:9556301 PMID:9584268 PMID:9712540 PMID:9846054 PMID:9894883 PMID:10190819 PMID:10227685 PMID:10369742 PMID:10480214 PMID:10480364 PMID:10551832 PMID:10737980 PMID:10815658 PMID:10980309 PMID:10980539 PMID:11063720 PMID:11102997 PMID:11220738 PMID:11248239 PMID:11310629 PMID:11330045 PMID:11336405 PMID:11379875 PMID:11438993 PMID:11739809 PMID:11748843 PMID:11798073 PMID:11810273 PMID:11968085 PMID:12175782 PMID:12402273 PMID:12530690 PMID:12624723 PMID:12913200 PMID:14533738 PMID:14586615 PMID:14713218 PMID:14767898 PMID:15032602 PMID:15192815 PMID:15284851 PMID:15333254 PMID:15388659 PMID:15564782 PMID:15643618 PMID:15800013 PMID:15811009 PMID:15812458 PMID:15878823 PMID:16018167 PMID:16023551 PMID:16087056 PMID:16199547 PMID:16319717 PMID:16401743 PMID:16415970 PMID:16427346 PMID:16601897 PMID:16672758 PMID:16684786 PMID:16949688 PMID:16996397 PMID:17029209 PMID:17202797 PMID:17285533 PMID:17372139 PMID:17498713 PMID:17504626 PMID:17542813 PMID:17576681 PMID:17602313 PMID:17990484 PMID:18177777 PMID:18306728 PMID:18627054 PMID:18973459 PMID:19129531 PMID:19234479 PMID:19325113 PMID:19396829 PMID:19496984 PMID:19592040 PMID:19660195 PMID:19846429 PMID:19892975 PMID:19963315 PMID:20008255 PMID:20195870 PMID:20228476 PMID:20301491 PMID:20376793 PMID:20455653 PMID:20626745 PMID:20661612 PMID:20730588 PMID:20800589 PMID:20849526 PMID:20859061 PMID:21068741 PMID:21264817 PMID:21300044 PMID:21476988 PMID:21478203 PMID:21488864 PMID:21586746 PMID:21700483 PMID:21889498 PMID:21907609 PMID:21966424 PMID:22045812 PMID:22057157 PMID:22120190 PMID:22176151 PMID:22189598 PMID:22198747 PMID:22280810 PMID:22281021 PMID:22366764 PMID:22382802 PMID:22479560 PMID:22483867 PMID:22687851 PMID:22914231 PMID:23009600 PMID:23154058 PMID:23300730 PMID:23409742 PMID:23419472 PMID:23430809 PMID:23469258 PMID:23566833 PMID:23566848 PMID:23651979 PMID:23660394 PMID:23664929 PMID:23671276 PMID:23712774 PMID:23768953 PMID:23835273 PMID:23864971 PMID:23926373 PMID:24154795 PMID:24365856 PMID:24480483 PMID:24685009 PMID:24719134 PMID:24722136 PMID:24768737 PMID:24788897 PMID:24962355 PMID:25118695 PMID:25275259 PMID:25324868 PMID:25741868 PMID:25835273 PMID:25835712 PMID:25999754 PMID:26227820 PMID:26260157 PMID:26266984 PMID:26388597 PMID:26454440 PMID:26467025 PMID:26471271 PMID:26523528 PMID:26607867 PMID:26609365 PMID:27067449 PMID:27084228 PMID:27248780 PMID:27489563 PMID:27766264 PMID:27779215 PMID:27928321 PMID:27934597 PMID:28086082 PMID:28089346 PMID:28216041 PMID:28456143 PMID:28481932 PMID:28492532 PMID:28503596 PMID:28601575 PMID:28708278 PMID:28953922 PMID:28991658 PMID:29056270 PMID:29284317 PMID:29334594 PMID:29443243 PMID:29557549 PMID:29950168 PMID:30069915 PMID:30293248 PMID:30544401 PMID:30564185 PMID:30658899 PMID:30787906 PMID:30902905 PMID:31069529 PMID:31074578 PMID:31104286 PMID:31227335 PMID:31316545 PMID:31452695 PMID:31526374 PMID:31557422 PMID:31777199 PMID:32003821 PMID:32047678 PMID:32101828 PMID:32207279 PMID:32307584 PMID:32403196 PMID:32632637 PMID:32671069 PMID:32954314 PMID:33151932 PMID:33247909 PMID:33359056 PMID:33547378 PMID:33920672 PMID:34008892 PMID:34012265 PMID:34302356 PMID:34826210 PMID:34946879 PMID:35053399 PMID:35076462 PMID:35196747 PMID:35384376 PMID:35466195 PMID:35479665 PMID:35535697 PMID:35645283 PMID:37081902 PMID:8048932 More...
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RGD:1598655 |
NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
|
|
G |
Acsbg1 |
acyl-CoA synthetase bubblegum family member 1 |
|
ISO |
|
RGD |
PMID:15800013 |
RGD:11065111 |
NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391
|
|
G |
Arhgap4 |
Rho GTPase activating protein 4 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
|
|
NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
|
|
G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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|
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
|
|
G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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|
NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
|
|
G |
Avpr2 |
arginine vasopressin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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|
NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
|
|
G |
Bcap31 |
B-cell receptor-associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:25741868 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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|
NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
|
|
G |
Bgn |
biglycan |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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|
NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
|
|
G |
Brcc3 |
BRCA1/BRCA2-containing complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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|
NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
|
|
G |
Ccnq |
cyclin Q |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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|
NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
|
|
G |
Clic2 |
chloride intracellular channel 2 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
|
|
NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
|
|
G |
Cmc4 |
C-X9-C motif containing 4 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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|
NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
|
|
G |
Ctag2 |
cancer/testis antigen 2 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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|
NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
|
|
G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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|
|
|
G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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|
NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
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|
G |
Dusp9 |
dual specificity phosphatase 9 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821
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|
G |
Emd |
emerin |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
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G |
F8 |
coagulation factor VIII |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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G |
F8a1 |
coagulation factor VIII-associated 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
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G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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|
NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
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|
G |
Fam50a |
family with sequence similarity 50, member A |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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|
NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
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|
G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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|
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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|
G |
Fundc2 |
FUN14 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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|
NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
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|
G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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|
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
|
|
G |
Gdi1 |
GDP dissociation inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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|
NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
|
|
G |
H2ab3 |
H2A.B variant histone 3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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|
NCBI chr X:82,362,531...82,363,105
Ensembl chr X:82,362,633...82,362,983
|
|
G |
Haus7 |
HAUS augmin-like complex, subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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|
NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577
|
|
G |
Hcfc1 |
host cell factor C1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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G |
Hmox1 |
heme oxygenase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
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NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
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G |
Ifng |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
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NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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G |
L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Lage3 |
L antigen family, member 3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Mmp10 |
matrix metallopeptidase 10 |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
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G |
Mmp2 |
matrix metallopeptidase 2 |
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ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mpp1 |
MAGUK p55 scaffold protein 1 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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G |
Mtcp1 |
mature T-cell proliferation 1 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:126,189...130,123
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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G |
Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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G |
Pdzd4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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G |
Pex13 |
peroxisomal biogenesis factor 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10441568 |
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NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
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G |
Pex26 |
peroxisomal biogenesis factor 26 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12851857 |
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NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
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G |
Plxna3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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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 |
Plxnb3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
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G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
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G |
Pnma3 |
PNMA family member 3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839
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G |
Pnma5 |
PNMA family member 5 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789
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G |
Pnma6e |
PNMA family member 6E |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037
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G |
Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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G |
Rpl10 |
ribosomal protein L10 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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G |
Slc10a3 |
solute carrier family 10, member 3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
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G |
Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
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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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G |
Srpk3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
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G |
Ssr4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
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G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
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G |
Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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G |
Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
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G |
Trex2 |
three prime repair exonuclease 2 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479
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G |
Ubl4a |
ubiquitin-like 4A |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069
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G |
Vbp1 |
VHL binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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G |
Zfp185 |
zinc finger protein 185 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,831,869...150,877,652
Ensembl chr X:150,831,862...150,874,810
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G |
Zfp92 |
ZFP92 zinc finger protein |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,116,794...151,142,451
Ensembl chr X:151,117,102...151,143,177
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G |
Cabp4 |
calcium binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:30718709 |
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NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II CTD Direct Evidence: marker/mechanism DNA:deletion:exon: |
OMIM ClinVar CTD RGD |
PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 PMID:22183355 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26747767 PMID:26992781 PMID:28002560 PMID:28341476 PMID:28492532 PMID:28838317 PMID:30718709 PMID:30825406 PMID:17525176 More...
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RGD:13782379 |
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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G |
Whrn |
whirlin |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:28492532 PMID:30718709 |
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NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
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G |
Slc16a2 |
solute carrier family 16 member 2 |
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ISO ISS |
ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy OMIM:300523 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 PMID:15889350 PMID:15980113 PMID:16131597 PMID:16417886 PMID:16957765 PMID:17356046 PMID:18187543 PMID:18398436 PMID:18414213 PMID:18636565 PMID:20083155 PMID:20301789 PMID:21836662 PMID:23568789 PMID:23744248 PMID:24265446 PMID:24721225 PMID:25167861 PMID:25517855 PMID:25527620 PMID:25741868 PMID:27081503 PMID:27212794 PMID:27805744 PMID:28492532 PMID:30369548 PMID:30497070 PMID:31127274 PMID:31410843 PMID:31585110 PMID:31690835 PMID:32277047 PMID:32559475 PMID:33504798 PMID:33847015 PMID:33860439 More...
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NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771
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G |
Elf4 |
E74 like ETS transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 |
OMIM ClinVar |
PMID:25741868 PMID:27932483 PMID:34326534 PMID:35266071 |
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NCBI chr X:127,587,401...127,639,063
Ensembl chr X:127,590,650...127,630,200
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G |
F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A | ClinVar Annotator: match by term: Mild hemophilia A |
ClinVar |
PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1412186 PMID:1523102 PMID:1559571 PMID:1569180 PMID:1569181 PMID:1639429 PMID:1643024 PMID:1671991 PMID:1840568 PMID:1851341 PMID:1908096 PMID:1908817 PMID:1923751 PMID:1924291 PMID:1969840 PMID:1973901 PMID:1979502 PMID:2104741 PMID:2104766 PMID:2105106 PMID:2105906 PMID:2106480 PMID:2107542 PMID:2109644 PMID:2110545 PMID:2121026 PMID:2121641 PMID:2125022 PMID:2159433 PMID:2473810 PMID:2493803 PMID:2495245 PMID:2498882 PMID:2506948 PMID:2510835 PMID:2563431 PMID:2567219 PMID:2831458 PMID:2833855 PMID:2835307 PMID:2861360 PMID:2887317 PMID:2901224 PMID:2907841 PMID:2986011 PMID:2987704 PMID:2993888 PMID:3035554 PMID:3097553 PMID:3122181 PMID:3131627 PMID:3137981 PMID:3139545 PMID:6253938 PMID:6438527 PMID:7579394 PMID:7662970 PMID:7728145 PMID:7794769 PMID:7959679 PMID:7984443 PMID:8011517 PMID:8052958 PMID:8054459 PMID:8069313 PMID:8281136 PMID:8307558 PMID:8322269 PMID:8449505 PMID:8485051 PMID:8490618 PMID:8497853 PMID:8547094 PMID:8576960 PMID:8584995 PMID:8639447 PMID:8644728 PMID:8759905 PMID:9184393 PMID:9326186 PMID:9452104 PMID:9569189 PMID:9594277 PMID:9603440 PMID:9792405 PMID:9829908 PMID:9886318 PMID:10215414 PMID:10338101 PMID:10404764 PMID:10519986 PMID:10609755 PMID:10896236 PMID:10910910 PMID:10910913 PMID:11102988 PMID:11110718 PMID:11157485 PMID:11179760 PMID:11189482 PMID:11251334 PMID:11298607 PMID:11341489 PMID:11410838 PMID:11442643 PMID:11554935 PMID:11713379 PMID:11748850 PMID:11754115 PMID:11843836 PMID:11857744 PMID:11858487 PMID:12139751 PMID:12204009 PMID:12325022 PMID:12351418 PMID:12406074 PMID:12871415 PMID:12884004 PMID:15194549 PMID:15471879 PMID:15569173 PMID:15625837 PMID:15670040 PMID:15710596 PMID:15735794 PMID:15741993 PMID:15810915 PMID:15921397 PMID:15996930 PMID:16128892 PMID:16173970 PMID:16601827 PMID:16769589 PMID:16786531 PMID:16834740 PMID:16972227 PMID:17209060 PMID:17222201 PMID:17286776 PMID:17445092 PMID:17498081 PMID:17550859 PMID:17610549 PMID:17610560 PMID:18034822 PMID:18179574 PMID:18184865 PMID:18217193 PMID:18299331 PMID:18371163 PMID:18387975 PMID:18403393 PMID:18479430 PMID:18565236 PMID:18600086 PMID:18691168 PMID:18752578 PMID:19369668 PMID:19377476 PMID:19448530 PMID:19456877 PMID:19473408 PMID:19473423 PMID:19548904 PMID:19719548 PMID:19719828 PMID:19740093 PMID:20028422 PMID:20102490 PMID:20108389 PMID:20148980 PMID:20193250 PMID:20300295 PMID:20301578 PMID:20331753 PMID:20331761 PMID:20431853 PMID:20528906 PMID:20533009 PMID:20536985 PMID:20800587 PMID:20860608 PMID:21070499 PMID:21166991 PMID:21217077 PMID:21371196 PMID:21462120 PMID:21592259 PMID:21645180 PMID:21645224 PMID:21645226 PMID:21689372 PMID:21751985 PMID:21771207 PMID:21838755 PMID:21883705 PMID:21910785 PMID:22103590 PMID:22117735 PMID:22759210 PMID:22906111 PMID:22958177 PMID:23534532 PMID:23551875 PMID:23625609 PMID:23711237 PMID:23711294 PMID:23809411 PMID:23812942 PMID:23913812 PMID:23926300 PMID:23961341 PMID:23963097 PMID:24033266 PMID:24086941 PMID:24108539 PMID:24118398 PMID:24134483 PMID:24845853 PMID:24953131 PMID:24975702 PMID:25326637 PMID:25550078 PMID:25628142 PMID:25708597 PMID:25741868 PMID:25824987 PMID:25854144 PMID:25948085 PMID:25955082 PMID:26057490 PMID:26308136 PMID:26383047 PMID:26879396 PMID:26897466 PMID:27292088 PMID:27868395 PMID:28252515 PMID:28492532 PMID:28748566 PMID:29296726 PMID:29357978 PMID:29381227 PMID:29388750 PMID:30534853 PMID:30913330 PMID:30997536 PMID:31064749 PMID:32166871 PMID:32190902 PMID:32224444 PMID:32497379 PMID:32581362 PMID:32685904 PMID:32897612 PMID:32935414 PMID:33245802 PMID:33706050 PMID:34272389 PMID:34355501 PMID:34708896 PMID:34751920 PMID:35014236 PMID:35770352 PMID:36007526 More...
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NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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G |
F8a1 |
coagulation factor VIII-associated 1 |
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ISO |
ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A |
ClinVar |
PMID:2105106 PMID:18371163 PMID:22759210 PMID:22906111 PMID:29296726 |
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NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
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G |
F9 |
coagulation factor IX |
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ISO |
ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A |
ClinVar |
PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 PMID:1968152 PMID:1972560 PMID:2066105 PMID:2087690 PMID:2198809 PMID:2220823 PMID:2472424 PMID:2752109 PMID:2773937 PMID:2929599 PMID:3181127 PMID:5298508 PMID:6603618 PMID:7482402 PMID:7797466 PMID:7873393 PMID:7937052 PMID:8055323 PMID:8091381 PMID:8257988 PMID:8314564 PMID:8320491 PMID:8401514 PMID:8470048 PMID:8680410 PMID:8772212 PMID:9222764 PMID:9450791 PMID:10094553 PMID:10192459 PMID:10373456 PMID:10595634 PMID:10698280 PMID:10739381 PMID:10874302 PMID:11122099 PMID:11328285 PMID:12588353 PMID:12687663 PMID:14675097 PMID:15178576 PMID:15569175 PMID:15921378 PMID:16643212 PMID:17014892 PMID:18479429 PMID:19699296 PMID:22103590 PMID:22544209 PMID:22639855 PMID:23093250 PMID:24219067 PMID:24375831 PMID:24759143 PMID:25326637 PMID:25741868 PMID:27529981 PMID:27734074 PMID:27865967 PMID:28193338 PMID:28492532 PMID:28722788 PMID:29656491 PMID:29993188 PMID:31064749 PMID:32155688 PMID:32267853 PMID:32581362 PMID:34272389 PMID:34355501 PMID:34590426 PMID:34708896 PMID:35770352 More...
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NCBI chr X:138,352,334...138,396,835
Ensembl chr X:138,352,298...138,396,835
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A |
ClinVar |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Fundc2 |
FUN14 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A |
ClinVar |
PMID:2105106 PMID:2563431 |
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NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
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G |
H2ab3 |
H2A.B variant histone 3 |
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ISO |
ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A |
ClinVar |
PMID:2105106 PMID:18371163 PMID:22759210 PMID:22906111 PMID:29296726 |
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NCBI chr X:82,362,531...82,363,105
Ensembl chr X:82,362,633...82,362,983
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G |
Mpp1 |
MAGUK p55 scaffold protein 1 |
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ISO |
ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A |
ClinVar |
PMID:2105106 |
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G |
Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A |
ClinVar |
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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G |
Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A |
ClinVar |
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NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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G |
Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A |
ClinVar |
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NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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G |
Vwf |
von Willebrand factor |
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ISO |
ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A |
ClinVar |
PMID:25741868 |
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NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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G |
Arhgap4 |
Rho GTPase activating protein 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
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G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
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G |
Avpr2 |
arginine vasopressin receptor 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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G |
Bcap31 |
B-cell receptor-associated protein 31 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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G |
Bgn |
biglycan |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
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G |
Brcc3 |
BRCA1/BRCA2-containing complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
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G |
Ccnq |
cyclin Q |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
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G |
Clic2 |
chloride intracellular channel 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
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G |
Cmc4 |
C-X9-C motif containing 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
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G |
Ctag2 |
cancer/testis antigen 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria |
ClinVar |
PMID:1719174 PMID:9345098 PMID:9384614 PMID:9536098 PMID:10480214 PMID:11238270 PMID:11379875 PMID:11748843 PMID:11968085 PMID:14662265 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17576681 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22410210 PMID:23409742 PMID:23660394 PMID:24033266 PMID:24365856 PMID:24962355 PMID:25652404 PMID:25741868 PMID:26471271 PMID:26845103 PMID:28492532 PMID:29334594 PMID:30831263 PMID:31333075 PMID:31559736 PMID:31568572 PMID:35384376 More...
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NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
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G |
Dusp9 |
dual specificity phosphatase 9 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821
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G |
Emd |
emerin |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
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G |
F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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G |
F8a1 |
coagulation factor VIII-associated 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
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G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
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G |
Fam50a |
family with sequence similarity 50, member A |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
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G |
Fkbp1a |
FKBP prolyl isomerase 1A |
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ISS |
OMIM:302060 |
MouseDO |
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NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Fundc2 |
FUN14 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
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G |
H2ab3 |
H2A.B variant histone 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:82,362,531...82,363,105
Ensembl chr X:82,362,633...82,362,983
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G |
Haus7 |
HAUS augmin-like complex, subunit 7 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577
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G |
Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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G |
L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Lage3 |
L antigen family, member 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Mest |
mesoderm specific transcript |
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ISS |
OMIM:302060 |
MouseDO |
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NCBI chr 4:59,354,445...59,364,919
Ensembl chr 4:59,354,447...59,366,145
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G |
Mpp1 |
MAGUK p55 scaffold protein 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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G |
Mtcp1 |
mature T-cell proliferation 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:126,189...130,123
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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G |
Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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G |
Pdzd4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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G |
Plxna3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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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 |
Plxnb3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
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G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
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G |
Pnma3 |
PNMA family member 3 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839
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G |
Pnma5 |
PNMA family member 5 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789
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G |
Pnma6e |
PNMA family member 6E |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037
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G |
Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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G |
Rpl10 |
ribosomal protein L10 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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G |
Slc10a3 |
solute carrier family 10, member 3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
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G |
Slc6a8 |
solute carrier family 6 member 8 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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G |
Srpk3 |
SRSF protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
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G |
Ssr4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
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G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
|
ISO ISS |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II OMIM:302060 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:972179 PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 PMID:7616547 PMID:8042670 PMID:8434619 PMID:8630491 PMID:9332651 PMID:9345058 PMID:9345098 PMID:9382096 PMID:9382097 PMID:9384614 PMID:9536098 PMID:10480214 PMID:10484795 PMID:11238270 PMID:11379875 PMID:11735032 PMID:11748843 PMID:11896212 PMID:11968085 PMID:12032589 PMID:12468278 PMID:12529714 PMID:12930833 PMID:14654353 PMID:14662265 PMID:15098233 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16548007 PMID:16601897 PMID:16684786 PMID:16873891 PMID:16880272 PMID:16906470 PMID:17241629 PMID:17394203 PMID:17576681 PMID:17846786 PMID:18177777 PMID:18430085 PMID:18627054 PMID:19037987 PMID:19396829 PMID:19438153 PMID:19619503 PMID:19648820 PMID:19700766 PMID:19846429 PMID:20530761 PMID:20730588 PMID:20812380 PMID:21300850 PMID:21659346 PMID:21932011 PMID:22281021 PMID:22382802 PMID:22410210 PMID:23031367 PMID:23206890 PMID:23345479 PMID:23361305 PMID:23409742 PMID:23606313 PMID:23656970 PMID:23660394 PMID:24033266 PMID:24342716 PMID:24365856 PMID:24813252 PMID:24887148 PMID:24962355 PMID:25112388 PMID:25185984 PMID:25652404 PMID:25741868 PMID:25941633 PMID:26350513 PMID:26471271 PMID:26724946 PMID:26845103 PMID:26895103 PMID:28123175 PMID:28183324 PMID:28492532 PMID:28855170 PMID:29077208 PMID:29089047 PMID:29247119 PMID:29334594 PMID:29476731 PMID:30122738 PMID:30471092 PMID:30831263 PMID:31333075 PMID:31559736 PMID:31568572 PMID:31647997 PMID:31737537 PMID:32619718 PMID:33500567 PMID:34906502 PMID:35104856 PMID:35384376 More...
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NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
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G |
Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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G |
Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
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G |
Trex2 |
three prime repair exonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479
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G |
Ubl4a |
ubiquitin-like 4A |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069
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G |
Vbp1 |
VHL binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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G |
Zfp185 |
zinc finger protein 185 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,831,869...150,877,652
Ensembl chr X:150,831,862...150,874,810
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G |
Zfp92 |
ZFP92 zinc finger protein |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,116,794...151,142,451
Ensembl chr X:151,117,102...151,143,177
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G |
Opn1mw |
opsin 1, medium wave sensitive |
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ISO ISS |
OMIM:303700 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type | ClinVar Annotator: match by term: Cone dystrophy 5, X-linked |
OMIM MouseDO CTD ClinVar |
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 PMID:19421413 PMID:20579627 More...
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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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 |
Maoa |
monoamine oxidase A |
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ISO ISS |
OMIM:300615 ClinVar Annotator: match by term: Brunner syndrome | ClinVar Annotator: match by term: MAOA-related condition CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:8211186 PMID:9536098 PMID:11700166 PMID:17296899 PMID:17576681 PMID:20340138 PMID:22382802 PMID:24169519 PMID:25741868 PMID:25807999 PMID:28492532 PMID:30452590 More...
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NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
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G |
Maob |
monoamine oxidase B |
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ISO |
ClinVar Annotator: match by term: Brunner syndrome |
ClinVar |
PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 PMID:30452590 More...
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NCBI chr X:5,907,327...6,010,996
Ensembl chr X:5,907,266...6,011,003
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G |
Ndp |
norrin cystine knot growth factor NDP |
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ISO |
ClinVar Annotator: match by term: Brunner syndrome |
ClinVar |
PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 PMID:30452590 More...
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NCBI chr X:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934
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G |
Cd40 |
CD40 molecule |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM |
ClinVar |
PMID:25741868 |
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NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
disease_progression |
ISO |
ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:mutations:exon, intron:multiple DNA:missense mutation:exon:p.T169N (526T>A) (human) |
ClinVar RGD CTD OMIM |
PMID:15611226 PMID:21841160 PMID:25741868 PMID:28492532 PMID:21841160 PMID:17553565 PMID:15358621 PMID:16508335 More...
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RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 PMID:20818383 PMID:22019070 PMID:23217327 PMID:23806086 PMID:24002164 PMID:24088041 PMID:25583628 PMID:25590979 PMID:25741868 PMID:25934856 PMID:25986071 PMID:26173962 PMID:26257172 PMID:27102849 PMID:28492532 PMID:28842795 PMID:28967629 PMID:31523922 PMID:37091313 More...
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NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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G |
Rab33a |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation |
ClinVar |
PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 PMID:20818383 PMID:22019070 PMID:23217327 PMID:23806086 PMID:24002164 PMID:24088041 PMID:25583628 PMID:25590979 PMID:25741868 PMID:25934856 PMID:25986071 PMID:26173962 PMID:26257172 PMID:27102849 PMID:28492532 PMID:28842795 PMID:28967629 PMID:31523922 PMID:37091313 More...
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NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
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G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 PMID:25491489 PMID:25741868 PMID:28492532 PMID:32781272 PMID:33493137 More...
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NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: CK syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION |
OMIM ClinVar |
PMID:18414213 PMID:19377476 PMID:21129721 PMID:25741868 PMID:28492532 |
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NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy |
OMIM ClinVar |
PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 PMID:25741868 PMID:25986071 PMID:26173962 PMID:26467025 PMID:28492532 PMID:31850270 More...
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NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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G |
Rab33a |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy |
ClinVar |
PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 PMID:25741868 PMID:25986071 PMID:26173962 PMID:26467025 PMID:28492532 PMID:31850270 More...
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NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
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G |
Magt1 |
magnesium transporter 1 |
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ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type ICC |
OMIM ClinVar |
PMID:24550228 PMID:25135935 PMID:25741868 PMID:28492532 PMID:31036665 |
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NCBI chr X:71,038,489...71,079,704
Ensembl chr X:71,038,489...71,079,699
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: SSR4-congenital disorder of glycosylation |
ClinVar |
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NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
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G |
Plxnb3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: SSR4-congenital disorder of glycosylation |
ClinVar |
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NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
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G |
Srpk3 |
SRSF protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: SSR4-congenital disorder of glycosylation |
ClinVar |
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NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
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G |
Ssr4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: SSR4-congenital disorder of glycosylation |
OMIM ClinVar |
PMID:24218363 PMID:25326635 PMID:25741868 PMID:26264460 |
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NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
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G |
Irs4 |
insulin receptor substrate 4 |
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ISO |
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9 |
OMIM ClinVar |
PMID:25741868 PMID:30061370 |
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NCBI chr X:105,344,020...105,360,004
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G |
Nyx |
nyctalopin |
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ISO ISS |
OMIM:310500 ClinVar Annotator: match by term: Congenital stationary night blindness 1A | ClinVar Annotator: match by term: NYX-related condition |
OMIM MouseDO ClinVar |
PMID:11062471 PMID:11062472 PMID:16670814 PMID:17392683 PMID:19578023 PMID:23406521 PMID:25741868 PMID:28492532 More...
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NCBI chr X:9,280,864...9,301,900
Ensembl chr X:9,280,864...9,301,900
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO ISS |
ClinVar Annotator: match by term: Congenital stationary night blindness 2A | ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2 OMIM:300071 |
OMIM ClinVar MouseDO |
PMID:9529339 PMID:9662399 PMID:9662400 PMID:10900517 PMID:11281458 PMID:12111638 PMID:12187427 PMID:12719097 PMID:15807819 PMID:15897456 PMID:16199547 PMID:17525176 PMID:17949918 PMID:19578023 PMID:22183355 PMID:22194652 PMID:23714322 PMID:24033266 PMID:24051672 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26747767 PMID:26992781 PMID:28002560 PMID:28041643 PMID:28492532 PMID:28838317 PMID:30576320 PMID:30653986 PMID:30718709 PMID:30825406 PMID:33037074 PMID:36909829 More...
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NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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G |
Clcn5 |
chloride voltage-gated channel 5 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dent disease | ClinVar Annotator: match by term: Dent's disease OMIM:300009 | OMIM:300555 |
CTD ClinVar MouseDO |
PMID:10561751 PMID:11136179 PMID:15719255 PMID:15814539 PMID:15895257 PMID:16822791 PMID:18038239 PMID:19076289 PMID:19546586 PMID:20804101 PMID:22876375 PMID:24081861 PMID:25741868 PMID:25907713 PMID:27889724 PMID:28492532 PMID:31672324 PMID:32683654 More...
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NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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G |
Ocrl |
OCRL, inositol polyphosphate-5-phosphatase |
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ISO |
ClinVar Annotator: match by term: Dent disease |
ClinVar |
PMID:15108291 PMID:21031565 PMID:21971085 PMID:27398910 PMID:29300302 |
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NCBI chr X:127,089,508...127,140,362
Ensembl chr X:127,089,590...127,140,362
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G |
Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED | ClinVar Annotator: match by term: Nephrolithiasis 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7874126 PMID:7915957 PMID:8559248 PMID:8950885 PMID:9062355 PMID:9187673 PMID:9259268 PMID:9328929 PMID:9734595 PMID:9853249 PMID:10469281 PMID:10906159 PMID:11136179 PMID:12637640 PMID:14569459 PMID:15052463 PMID:15086899 PMID:15719255 PMID:15895257 PMID:16041495 PMID:16247550 PMID:16822791 PMID:16861240 PMID:18038239 PMID:18184518 PMID:19076289 PMID:19546586 PMID:19546591 PMID:19657328 PMID:19673950 PMID:19806368 PMID:21305656 PMID:22083641 PMID:22876375 PMID:23566014 PMID:24081861 PMID:25001568 PMID:25326635 PMID:25741868 PMID:25907713 PMID:26822237 PMID:27117801 PMID:27889724 PMID:28492532 PMID:28580211 PMID:28815356 PMID:30773290 PMID:31328266 PMID:31672324 PMID:31674016 PMID:31852738 PMID:32201916 PMID:32289351 PMID:32683654 PMID:33532864 PMID:35738466 More...
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NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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G |
Mir188 |
microRNA 188 |
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ISO |
ClinVar Annotator: match by term: Nephrolithiasis 2 |
ClinVar |
PMID:7874126 PMID:9328929 PMID:15052463 |
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NCBI chr X:15,247,715...15,247,794
Ensembl chr X:15,247,715...15,247,794
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G |
Mir500 |
microRNA 500 |
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ISO |
ClinVar Annotator: match by term: Nephrolithiasis 2 |
ClinVar |
PMID:7874126 PMID:9328929 PMID:15052463 |
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NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859
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G |
Mir532 |
microRNA 532 |
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ISO |
ClinVar Annotator: match by term: Nephrolithiasis 2 |
ClinVar |
PMID:7874126 PMID:9328929 PMID:15052463 |
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NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
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G |
Inpp5b |
inositol polyphosphate-5-phosphatase B |
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ISO |
ClinVar Annotator: match by term: Dent disease type 2 |
ClinVar |
PMID:28018608 |
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NCBI chr 5:136,996,766...137,061,315
Ensembl chr 5:136,996,686...137,061,315
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G |
Ocrl |
OCRL, inositol polyphosphate-5-phosphatase |
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ISO |
ClinVar Annotator: match by term: Dent disease type 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1321346 PMID:8504307 PMID:15627218 PMID:16381338 PMID:17162149 PMID:17384968 PMID:19390221 PMID:21031565 PMID:22381590 PMID:23047739 PMID:24081861 PMID:25480730 PMID:25741868 PMID:26694549 PMID:27625797 PMID:27708066 PMID:28018608 PMID:28492532 PMID:28803024 PMID:31674016 PMID:34125233 PMID:34139759 More...
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NCBI chr X:127,089,508...127,140,362
Ensembl chr X:127,089,590...127,140,362
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G |
Abca3 |
ATP binding cassette subfamily A member 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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G |
Aldh7a1 |
aldehyde dehydrogenase 7 family, member A1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:23953072 PMID:25741868 PMID:28492532 |
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NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
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G |
Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:107,906,320...107,968,232
Ensembl chr X:107,885,093...107,942,695
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G |
Amdhd2 |
amidohydrolase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,187,579...13,196,148
Ensembl chr10:13,187,578...13,196,095
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G |
Arhgef9 |
Cdc42 guanine nucleotide exchange factor 9 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:35638461 |
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NCBI chr X:59,919,560...60,077,538
Ensembl chr X:59,920,870...60,077,513
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G |
Arx |
aristaless related homeobox |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome CTD Direct Evidence: marker/mechanism associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human) |
OMIM ClinVar CTD RGD |
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12177367 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12379852 PMID:12640086 PMID:12874418 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15726411 PMID:15850492 PMID:16078051 PMID:16199547 PMID:16235064 PMID:16523516 PMID:16995578 PMID:17331656 PMID:17480217 PMID:17490853 PMID:17576681 PMID:17641262 PMID:17664401 PMID:17668384 PMID:18414213 PMID:18462864 PMID:19439424 PMID:19507262 PMID:19605412 PMID:19606478 PMID:19738637 PMID:20148114 PMID:20300201 PMID:20506206 PMID:21108397 PMID:21204215 PMID:21204226 PMID:21496008 PMID:22252899 PMID:22922607 PMID:23039062 PMID:23246292 PMID:23757202 PMID:24643514 PMID:24781210 PMID:25741868 PMID:26029707 PMID:26337422 PMID:26467025 PMID:27864847 PMID:28174645 PMID:28387369 PMID:28492532 PMID:29152528 PMID:29778428 PMID:30108342 PMID:30255221 PMID:30552426 PMID:31145546 PMID:31324350 PMID:31623504 PMID:31691806 PMID:31791873 PMID:32139178 PMID:32313153 PMID:32383243 PMID:32613771 PMID:33951346 PMID:34992632 PMID:35121198 PMID:17664401 PMID:19587282 More...
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RGD:11565846, RGD:11565838 |
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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G |
Atmin |
ATM interactor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr19:44,996,506...45,013,606
Ensembl chr19:44,996,356...45,013,605
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G |
Atp6v0c |
ATPase H+ transporting V0 subunit C |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,196,204...13,202,580
Ensembl chr10:13,196,204...13,201,500
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G |
Bco1 |
beta-carotene oxygenase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101
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G |
Bicdl2 |
BICD family like cargo adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,691,610...12,700,049
Ensembl chr10:12,691,610...12,700,049
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G |
Bricd5 |
BRICHOS domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259
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G |
C19h16orf46 |
similar to human chromosome 16 open reading frame 46 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr19:45,017,499...45,033,453
Ensembl chr19:45,022,280...45,032,683
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32461667 PMID:32820246 PMID:32960281 PMID:33497533 More...
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NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
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G |
Caskin1 |
CASK interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377
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G |
Ccnf |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 PMID:30866059 More...
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NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Cdyl2 |
chromodomain Y-like 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr19:44,591,734...44,783,258
Ensembl chr19:44,597,459...44,783,022
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G |
Cenpn |
centromere protein N |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr19:44,971,265...44,994,019
Ensembl chr19:44,968,308...44,994,012
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G |
Cfap96 |
cilia and flagella associated protein 96 |
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ISO |
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
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NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
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G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
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G |
Cldn6 |
claudin 6 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,710,302...12,713,987
Ensembl chr10:12,709,960...12,715,973
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G |
Cldn9 |
claudin 9 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,714,137...12,715,568
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G |
Cmc2 |
C-x(9)-C motif containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr19:44,943,283...44,971,930
Ensembl chr19:44,943,285...44,971,983
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G |
Cmip |
c-Maf-inducing protein |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr19:45,304,597...45,510,653
Ensembl chr19:45,304,031...45,508,709
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G |
Csnk1e |
casein kinase 1, epsilon |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
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NCBI chr 7:110,983,322...111,006,926
Ensembl chr 7:110,983,318...111,006,794
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G |
Dnase1l2 |
deoxyribonuclease 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763
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G |
Dnm1 |
dynamin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:30097719 PMID:32909139 PMID:36413998 |
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NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
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G |
Dynlrb2 |
dynein light chain roadblock-type 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr19:44,520,134...44,531,384
Ensembl chr19:44,520,134...44,531,387
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G |
E4f1 |
E4F transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974
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G |
Eci1 |
enoyl-CoA delta isomerase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061
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G |
Elob |
elongin B |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,848,830...12,853,897
Ensembl chr10:12,848,827...12,853,635
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G |
Eme2 |
essential meiotic structure-specific endonuclease subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968
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G |
Fahd1 |
fumarylacetoacetate hydrolase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012
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G |
Flywch1 |
FLYWCH-type zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,774,644...12,794,373
Ensembl chr10:12,774,653...12,794,267
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G |
Flywch2 |
FLYWCH family member 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,798,757...12,807,082
Ensembl chr10:12,798,762...12,806,439
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G |
Gabrb3 |
gamma-aminobutyric acid type A receptor subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
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G |
Gan |
gigaxonin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr19:45,207,783...45,265,066
Ensembl chr19:45,207,184...45,254,107
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G |
Gcsh |
glycine cleavage system protein H |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792
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G |
Gfer |
growth factor, augmenter of liver regeneration |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
|
NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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G |
Gnao1 |
G protein subunit alpha o1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
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G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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ISO |
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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G |
Hagh |
hydroxyacyl glutathione hydrolase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504
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G |
Hcfc1r1 |
host cell factor C1 regulator 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,705,139...12,706,852
Ensembl chr10:12,705,077...12,706,850
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G |
Hcn1 |
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24747641 |
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NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774
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G |
Hnrnpu |
heterogeneous nuclear ribonucleoprotein U |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
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NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588
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G |
Hs3st6 |
heparan sulfate-glucosamine 3-sulfotransferase 6 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133
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G |
Igfals |
insulin-like growth factor binding protein, acid labile subunit |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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G |
Itpa |
inosine triphosphatase |
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ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:26224535 PMID:28492532 |
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NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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G |
Kcna2 |
potassium voltage-gated channel subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532 More...
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NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Kctd5 |
potassium channel tetramerization domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,079,216...13,105,197
Ensembl chr10:13,079,214...13,105,209
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G |
Kremen2 |
kringle containing transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,763,345...12,767,622
Ensembl chr10:12,763,397...12,767,854
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G |
Maf |
MAF bZIP transcription factor |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24369382 PMID:24456803 PMID:25411445 PMID:25741868 PMID:26467025 PMID:27959697 PMID:28492532 PMID:29358611 PMID:29390993 PMID:30356099 PMID:31130284 PMID:31780880 PMID:31957018 More...
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NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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G |
Meiob |
meiosis specific with OB-fold |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046
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G |
Mlst8 |
MTOR associated protein, LST8 homolog |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128
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G |
Mmp25 |
matrix metallopeptidase 25 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,661,297...12,676,119
Ensembl chr10:12,661,208...12,675,871
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G |
Mrps34 |
mitochondrial ribosomal protein S34 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406
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G |
Msrb1 |
methionine sulfoxide reductase B1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,764,883...13,770,609
Ensembl chr10:13,764,883...13,770,609
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G |
Napb |
NSF attachment protein beta |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:33189936 |
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NCBI chr 3:136,132,248...136,179,280
Ensembl chr 3:136,133,428...136,179,345
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G |
Ndufb10 |
NADH:ubiquinone oxidoreductase subunit B10 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,749,273...13,751,434
Ensembl chr10:13,749,275...13,751,442
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G |
Nherf2 |
NHERF family PDZ scaffold protein 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049
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G |
Noxo1 |
NADPH oxidase organizer 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,723,253...13,726,008
Ensembl chr10:13,721,473...13,726,061
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G |
Npw |
neuropeptide W |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,680,275...13,681,618
Ensembl chr10:13,680,321...13,681,586
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G |
Nrxn2 |
neurexin 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
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NCBI chr 1:203,726,420...203,842,301
Ensembl chr 1:203,735,753...203,842,297
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G |
Nthl1 |
nth-like DNA glycosylase 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957
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G |
Ntn3 |
netrin 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,236,905...13,240,001
Ensembl chr10:13,236,905...13,240,001
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G |
Nubp2 |
NUBP iron-sulfur cluster assembly factor 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,903,224...13,906,928
Ensembl chr10:13,903,224...13,906,969
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G |
Pacs2 |
phosphofurin acidic cluster sorting protein 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:20186691 PMID:23733235 PMID:25034272 PMID:25741868 PMID:26626314 PMID:28135719 PMID:28191890 PMID:28492532 PMID:28628100 PMID:28867141 PMID:29656858 PMID:30290155 PMID:30904718 PMID:31036916 PMID:31231135 PMID:32416568 PMID:33243487 PMID:34782754 PMID:36474027 More...
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NCBI chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583
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G |
Paqr4 |
progestin and adipoQ receptor family member 4 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,758,970...12,762,649
Ensembl chr10:12,758,972...12,762,584
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G |
Pcdh19 |
protocadherin 19 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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G |
Pcyt1b |
phosphate cytidylyltransferase 1B, choline |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 |
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NCBI chr X:58,378,090...58,471,623
Ensembl chr X:58,378,116...58,468,935
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G |
Pdk3 |
pyruvate dehydrogenase kinase 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 |
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NCBI chr X:58,486,699...58,553,533
Ensembl chr X:58,486,554...58,553,557
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G |
Pdpk1 |
3-phosphoinositide dependent protein kinase-1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623
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G |
Pgp |
phosphoglycolate phosphatase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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G |
Pkd1l2 |
polycystin 1 like 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532
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G |
Pkmyt1 |
protein kinase, membrane associated tyrosine/threonine 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,748,221...12,758,995
Ensembl chr10:12,748,237...12,758,995
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G |
Plcb1 |
phospholipase C beta 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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G |
Plcg2 |
phospholipase C, gamma 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:31780880 |
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NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
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G |
Pola1 |
DNA polymerase alpha 1, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 |
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NCBI chr X:58,034,617...58,348,612
Ensembl chr X:58,034,619...58,348,536
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G |
Prss21 |
serine protease 21 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,899,820...12,905,612
Ensembl chr10:12,900,535...12,905,618
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G |
Prss22 |
serine protease 22 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,029,153...13,033,863
Ensembl chr10:13,029,153...13,033,863
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G |
Prss27 |
serine protease 27 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,069,959...13,077,322
Ensembl chr10:13,069,959...13,077,322
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G |
Prss33 |
serine protease 33 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,858,941...12,861,281
Ensembl chr10:12,858,941...12,861,281
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G |
Prss41 |
serine protease 41 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,865,872...12,873,552
Ensembl chr10:12,865,872...12,873,552
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G |
Rab26 |
RAB26, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030
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G |
Reps2 |
RALBP1 associated Eps domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr X:32,049,455...32,322,317
Ensembl chr X:32,049,399...32,317,414
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G |
Rnf151 |
ring finger protein 151 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,742,682...13,747,192
Ensembl chr10:13,742,682...13,745,000
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G |
Rnps1 |
RNA binding protein with serine rich domain 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858
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G |
Rpl3l |
ribosomal protein L3-like |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457
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G |
Rps2 |
ribosomal protein S2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163
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G |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:11940708 PMID:12083760 PMID:16458823 PMID:17347258 PMID:18804930 PMID:18930999 PMID:20522430 PMID:21248271 PMID:22151702 PMID:23195492 PMID:23808377 PMID:25741868 PMID:26096185 PMID:26467025 PMID:26544041 PMID:28079314 PMID:28387369 PMID:28492532 PMID:29100083 PMID:30619928 PMID:31864146 PMID:32056211 PMID:32090326 PMID:35571373 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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G |
Slc25a12 |
solute carrier family 25 member 12 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100
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G |
Spsb3 |
splA/ryanodine receptor domain and SOCS box containing 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,907,175...13,912,841
Ensembl chr10:13,907,253...13,912,841
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G |
Srrm2 |
serine/arginine repetitive matrix 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751
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G |
St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810
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G |
Syngr3 |
synaptogyrin 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,710,553...13,715,309
Ensembl chr10:13,704,998...13,715,669
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G |
Synj1 |
synaptojanin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220
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G |
Szt2 |
SZT2 subunit of KICSTOR complex |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms |
ClinVar |
PMID:1029242 PMID:3402014 PMID:9536098 PMID:10574461 PMID:10741954 PMID:16199547 PMID:16855591 PMID:17576681 PMID:18414213 PMID:20727515 PMID:20797691 PMID:22277662 PMID:23184456 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24729539 PMID:24729547 PMID:24848745 PMID:25169651 PMID:25326637 PMID:25401298 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27541164 PMID:27669036 PMID:27784474 PMID:28072960 PMID:28252636 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:28726039 PMID:29100083 PMID:29176366 PMID:29358611 PMID:29429257 PMID:29655203 PMID:29671961 PMID:29933521 PMID:30108545 PMID:30139988 PMID:30180405 PMID:30311386 PMID:30335140 PMID:30680869 PMID:30776697 PMID:30866059 PMID:31112829 PMID:31216405 PMID:31257402 PMID:31618474 PMID:31780880 PMID:31922275 PMID:32004315 PMID:32369273 PMID:32581362 PMID:32860223 PMID:33063868 PMID:33229591 PMID:33281559 PMID:33333793 PMID:33619735 PMID:33726816 PMID:33986365 PMID:34020146 PMID:34852372 PMID:35350397 PMID:36413997 More...
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NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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G |
Tbl3 |
transducin (beta)-like 3 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,726,127...13,731,340
Ensembl chr10:13,726,129...13,731,372
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G |
Tedc2 |
tubulin epsilon and delta complex 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,246,032...13,251,196
Ensembl chr10:13,246,037...13,251,124
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G |
Thoc6 |
THO complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925
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G |
Tnfrsf12a |
TNF receptor superfamily member 12A |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,707,077...12,709,071
Ensembl chr10:12,689,890...12,709,045
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G |
Traf7 |
TNF receptor associated factor 7 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
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G |
Tsc2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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G |
Ufsp2 |
UFM1-specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
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NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
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G |
Wwox |
WW domain-containing oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms |
ClinVar |
PMID:9536098 PMID:11572989 PMID:11956080 PMID:16199547 PMID:17576681 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24369382 PMID:24456803 PMID:25403906 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25640679 PMID:25741868 PMID:26077850 PMID:26467025 PMID:27495153 PMID:27569545 PMID:27717089 PMID:27848944 PMID:27884173 PMID:27959697 PMID:28130116 PMID:28492532 PMID:29358611 PMID:29390993 PMID:29675105 PMID:29808465 PMID:29852413 PMID:29905011 PMID:30356099 PMID:30746283 PMID:30853297 PMID:30919572 PMID:31130284 PMID:31216405 PMID:31618474 PMID:31623504 PMID:31780880 PMID:31957018 PMID:35573960 PMID:35701389 More...
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NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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G |
Zfp598 |
zinc finger protein 598 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 PMID:30866059 |
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NCBI chr10:13,694,224...13,706,235
Ensembl chr10:13,694,286...13,706,233
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G |
Zg16b |
zymogen granule protein 16B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,970,888...12,984,170
Ensembl chr10:12,979,020...12,983,572
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G |
Zscan10 |
zinc finger and SCAN domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,636,302...12,646,275
Ensembl chr10:12,636,302...12,646,275
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G |
Amer1 |
APC membrane recruitment protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr X:60,300,595...60,316,480
Ensembl chr X:60,295,751...60,316,440
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G |
Arhgef9 |
Cdc42 guanine nucleotide exchange factor 9 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:15215304 PMID:16199547 PMID:16616186 PMID:17576681 PMID:17893116 PMID:18414213 PMID:18615734 PMID:21633362 PMID:21731583 PMID:22612257 PMID:23033978 PMID:25568878 PMID:25678704 PMID:25741868 PMID:26467025 PMID:26834553 PMID:27238888 PMID:28492532 PMID:28589176 PMID:28620718 PMID:28708303 PMID:29130122 PMID:30914922 PMID:31054490 PMID:31069529 PMID:31440721 PMID:32005694 PMID:32593896 PMID:32860008 PMID:32939676 PMID:33504798 PMID:33860439 PMID:35638461 More...
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NCBI chr X:59,919,560...60,077,538
Ensembl chr X:59,920,870...60,077,513
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G |
Asb12 |
ankyrin repeat and SOCS box-containing 12 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr X:60,328,325...60,478,031
Ensembl chr X:60,328,328...60,415,619
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G |
Zc4h2 |
zinc finger C4H2-type containing |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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G |
Tsr2 |
TSR2, ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis |
OMIM ClinVar |
PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 |
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NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
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G |
Akap6 |
A-kinase anchoring protein 6 |
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ISO |
mRNA:decreased expression:heart |
RGD |
PMID:14511675 |
RGD:14349026 |
NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21641384 |
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NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Cd4 |
Cd4 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21641384 |
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NCBI chr 4:157,668,878...157,695,366
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G |
Ctss |
cathepsin S |
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ISS |
OMIM:310200 |
MouseDO |
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NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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G |
Dag1 |
dystroglycan 1 |
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ISO |
protein:increased degradation:skeletal muscle protein:decreased expression:skeletal muscle |
RGD |
PMID:15833425 PMID:7630355 PMID:11445638 |
RGD:11073211, RGD:11552581, RGD:11537476 |
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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G |
Dcaf8l1 |
DDB1 and CUL4 associated factor 8-like 1 |
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ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:22510846 PMID:23453023 PMID:24504883 PMID:28492532 |
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NCBI chr X:54,488,494...54,491,514
Ensembl chr X:54,488,781...54,491,141
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G |
Dmd |
dystrophin |
treatment |
ISO ISS IMP |
ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy OMIM:310200 CTD Direct Evidence: marker/mechanism mRNA:decreased stability:muscle |
ClinVar MouseDO CTD OMIM RGD |
PMID:1301174 PMID:1301934 PMID:1307253 PMID:1363782 PMID:1383546 PMID:1496988 PMID:1513469 PMID:1549596 PMID:1601417 PMID:1785409 PMID:1864612 PMID:1868831 PMID:1889805 PMID:2040695 PMID:2063877 PMID:2071150 PMID:2136098 PMID:2261642 PMID:2316519 PMID:2354438 PMID:2383276 PMID:2573997 PMID:2691353 PMID:3101180 PMID:3393617 PMID:7041906 PMID:7496177 PMID:7581396 PMID:7599634 PMID:7599638 PMID:7611292 PMID:7649554 PMID:7668256 PMID:7747792 PMID:7825571 PMID:7825572 PMID:7849724 PMID:7853367 PMID:7881286 PMID:7897627 PMID:7951251 PMID:7951253 PMID:7981590 PMID:7981690 PMID:8004097 PMID:8034300 PMID:8149204 PMID:8160755 PMID:8199594 PMID:8281150 PMID:8301652 PMID:8317478 PMID:8353493 PMID:8361506 PMID:8364587 PMID:8401539 PMID:8401582 PMID:8413368 PMID:8423832 PMID:8429320 PMID:8452597 PMID:8499922 PMID:8533818 PMID:8543940 PMID:8589698 PMID:8628480 PMID:8784808 PMID:8789442 PMID:8817332 PMID:8840114 PMID:8840119 PMID:9007319 PMID:9028449 PMID:9040743 PMID:9048922 PMID:9067763 PMID:9143930 PMID:9170407 PMID:9195228 PMID:9225508 PMID:9298822 PMID:9441825 PMID:9447607 PMID:9470882 PMID:9536098 PMID:9544849 PMID:9619643 PMID:9628192 PMID:9760747 PMID:9800909 PMID:9805122 PMID:9937601 PMID:10094565 PMID:10196701 PMID:10320864 PMID:10392746 PMID:10464635 PMID:10465346 PMID:10480348 PMID:10533061 PMID:10541573 PMID:10612827 PMID:10722962 PMID:10832829 PMID:10841222 PMID:10909857 PMID:10939566 PMID:11039581 PMID:11185740 PMID:11241855 PMID:11257468 PMID:11381192 PMID:11388892 PMID:11409318 PMID:11409421 PMID:11524473 PMID:11710958 PMID:12111668 PMID:12123485 PMID:12233050 PMID:12324874 PMID:12354438 PMID:12359139 PMID:12398835 PMID:12467752 PMID:12632325 PMID:12673664 PMID:12674656 PMID:12754415 PMID:12754707 PMID:12794683 PMID:12920092 PMID:12966700 PMID:13679720 PMID:14514278 PMID:14571009 PMID:14641995 PMID:14652441 PMID:14659407 PMID:14695533 PMID:14751810 PMID:14961551 PMID:14962982 PMID:14973546 PMID:14977063 PMID:15038390 PMID:15253946 PMID:15319032 PMID:15351422 PMID:15528988 PMID:15637982 PMID:15643612 PMID:15655674 PMID:15684864 PMID:15723292 PMID:15841391 PMID:15845029 PMID:15952989 PMID:15976104 PMID:15979033 PMID:16030524 PMID:16049303 PMID:16077730 PMID:16122626 PMID:16199547 PMID:16331671 PMID:16439068 PMID:16566881 PMID:16770791 PMID:16834926 PMID:16883524 PMID:16917894 PMID:16936400 PMID:16950195 PMID:17024373 PMID:17041906 PMID:17124406 PMID:17145200 PMID:17253928 PMID:17259292 PMID:17380674 PMID:17435279 PMID:17561468 PMID:17576681 PMID:17680544 PMID:17726484 PMID:17826093 PMID:17854090 PMID:17880784 PMID:17952667 PMID:18054699 PMID:18055393 PMID:18059005 PMID:18261911 PMID:18348289 PMID:18353051 PMID:18393226 PMID:18403565 PMID:18445268 PMID:18583217 PMID:18646563 PMID:18652600 PMID:18653336 PMID:18663755 PMID:18683213 PMID:18752307 PMID:18853462 PMID:18974567 PMID:19001018 PMID:19040728 PMID:19065519 PMID:19073314 PMID:19074751 PMID:19084397 PMID:19158079 PMID:19206170 PMID:19230662 PMID:19309154 PMID:19309270 PMID:19367636 PMID:19409785 PMID:19449031 PMID:19449433 PMID:19461958 PMID:19475718 PMID:19530190 PMID:19602481 PMID:19730022 PMID:19760747 PMID:19763152 PMID:19783145 PMID:19793655 PMID:19823873 PMID:19835634 PMID:19837995 PMID:19907931 PMID:19937601 PMID:19959795 PMID:20031633 PMID:20036901 PMID:20098710 PMID:20153965 PMID:20307669 PMID:20381484 PMID:20457930 PMID:20485447 PMID:20630757 PMID:20683981 PMID:20696926 PMID:20847377 PMID:20944443 PMID:21104870 PMID:21150048 PMID:21180173 PMID:21228398 PMID:21273767 PMID:21396098 PMID:21399986 PMID:21402533 PMID:21514860 PMID:21515508 PMID:21520333 PMID:21525508 PMID:21550932 PMID:21815800 PMID:21851881 PMID:21896784 PMID:21969337 PMID:21972111 PMID:22090376 PMID:22092019 PMID:22102647 PMID:22144684 PMID:22161109 PMID:22182525 PMID:22223181 PMID:22234188 PMID:22234189 PMID:22369279 PMID:22379338 PMID:22406018 PMID:22510846 PMID:22678781 PMID:22754229 PMID:22776072 PMID:22796527 PMID:22894145 PMID:22910583 PMID:22980762 PMID:23092449 PMID:23224783 PMID:23251671 PMID:23276443 PMID:23297412 PMID:23299917 PMID:23299919 PMID:23349452 PMID:23352160 PMID:23438214 PMID:23440719 PMID:23453023 PMID:23536893 PMID:23588064 PMID:23667215 PMID:23695957 PMID:23756440 PMID:23757202 PMID:23818053 PMID:23829870 PMID:23871722 PMID:23914114 PMID:24033266 PMID:24055113 PMID:24066114 PMID:24099565 PMID:24123366 PMID:24217213 PMID:24236769 PMID:24265581 PMID:24274981 PMID:24292997 PMID:24300647 PMID:24302611 PMID:24349043 PMID:24349052 PMID:24504883 PMID:24505439 PMID:24690944 PMID:24770780 PMID:24835530 PMID:24871807 PMID:24892813 PMID:24928015 PMID:24996370 PMID:25007885 PMID:25056178 PMID:25076844 PMID:25108525 PMID:25131993 PMID:25133751 PMID:25163546 PMID:25193336 PMID:25214167 PMID:25227141 PMID:25231023 PMID:25244321 PMID:25326637 PMID:25333069 PMID:25340340 PMID:25348330 PMID:25353622 PMID:25434822 PMID:25447171 PMID:25474345 PMID:25482253 PMID:25525159 PMID:25612904 PMID:25636106 PMID:25637381 PMID:25640679 PMID:25741868 PMID:25761239 PMID:25937795 PMID:25972034 PMID:26046366 PMID:26066469 PMID:26081009 PMID:26110187 PMID:26140716 PMID:26260725 PMID:26272908 PMID:26284620 PMID:26350204 PMID:26365249 PMID:26392559 PMID:26455815 PMID:26467025 PMID:26594346 PMID:26676145 PMID:26718981 PMID:26735901 PMID:26740235 PMID:26743743 PMID:26745801 PMID:26836830 PMID:26911353 PMID:26930420 PMID:26934379 PMID:26951757 PMID:26968818 PMID:26990548 PMID:27009627 PMID:27122458 PMID:27135274 PMID:27178005 PMID:27206868 PMID:27234031 PMID:27263301 PMID:27290639 PMID:27350676 PMID:27363342 PMID:27425820 PMID:27515321 PMID:27582364 PMID:27593222 PMID:27708273 PMID:27750387 PMID:27854212 PMID:27854218 PMID:27896284 PMID:27898983 PMID:27930565 PMID:28100912 PMID:28116794 PMID:28181471 PMID:28181689 PMID:28247318 PMID:28318817 PMID:28332368 PMID:28407826 PMID:28416588 PMID:28492532 PMID:28495050 PMID:28503591 PMID:28526893 PMID:28569743 PMID:28610567 PMID:28701297 PMID:28750076 PMID:28777860 PMID:28798025 PMID:28859693 PMID:28878337 PMID:28878402 PMID:29016797 PMID:29188604 PMID:29196072 PMID:29246534 PMID:29261181 PMID:29304097 PMID:29365344 PMID:29386531 PMID:29390271 PMID:29404407 PMID:29511324 PMID:29517769 PMID:29578119 PMID:29581631 PMID:29604111 PMID:29610182 PMID:29641567 PMID:29778277 PMID:29792937 PMID:29847600 PMID:29874176 PMID:29892087 PMID:29901616 PMID:29961767 PMID:29970176 PMID:29973226 PMID:29984652 PMID:30074247 PMID:30086531 PMID:30275481 PMID:30293248 PMID:30342905 PMID:30406066 PMID:30415094 PMID:30467404 PMID:30564623 PMID:30816495 PMID:30827497 PMID:30833962 PMID:30907348 PMID:30938079 PMID:30944907 PMID:31069529 PMID:31081998 PMID:31127727 PMID:31139960 PMID:31197268 PMID:31216405 PMID:31302907 PMID:31333075 PMID:31379145 PMID:31397097 PMID:31404137 PMID:31412794 PMID:31443951 PMID:31475473 PMID:31514951 PMID:31568572 PMID:31648988 PMID:31661024 PMID:31671740 PMID:31672265 PMID:31690835 PMID:31705731 PMID:31706698 PMID:31708335 PMID:31719299 PMID:31727011 PMID:31737537 PMID:31919629 PMID:31983221 PMID:32013268 PMID:32047267 PMID:32055135 PMID:32169422 PMID:32176650 PMID:32194622 PMID:32317190 PMID:32358784 PMID:32403337 PMID:32419263 PMID:32488064 PMID:32504006 PMID:32528171 PMID:32559196 PMID:32669210 PMID:32746448 PMID:32813700 PMID:32860008 PMID:32906206 PMID:32955503 PMID:32962870 PMID:32969603 PMID:33025945 PMID:33029525 PMID:33101180 PMID:33106653 PMID:33144682 PMID:33238405 PMID:33250842 PMID:33285037 PMID:33420945 PMID:33552634 PMID:33644936 PMID:33773883 PMID:33829027 PMID:33843695 PMID:33874732 PMID:34008892 PMID:34103343 PMID:34106991 PMID:34268379 PMID:34297739 PMID:34327855 PMID:34404389 PMID:34629887 PMID:34679607 PMID:34906502 PMID:34950096 PMID:35135626 PMID:35165973 PMID:35428841 PMID:36315559 PMID:36361501 PMID:36409343 PMID:3055295 PMID:25310701 PMID:22810924 PMID:24010700 PMID:25005781 PMID:23975932 PMID:9288751 More...
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RGD:1580859, RGD:12880034, RGD:12880014, RGD:12880007, RGD:11040981, RGD:12879862, RGD:737706 |
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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G |
Dmdem1Ang |
dystrophin; TALEN-induced mutant1, Ang |
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IMP |
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RGD |
PMID:25310701 |
RGD:12880034 |
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G |
Dmdem1Kykn |
dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi |
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IMP |
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RGD |
PMID:25005781 |
RGD:11040981 |
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G |
Fthl17a |
ferritin, heavy polypeptide-like 17, member A |
|
ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 PMID:24504883 PMID:24770780 PMID:28492532 PMID:31705731 More...
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NCBI chr X:49,595,422...49,596,399
Ensembl chr X:49,595,718...49,596,266
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G |
Gk |
glycerol kinase |
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ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 PMID:24504883 PMID:24770780 PMID:28492532 PMID:31705731 More...
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NCBI chr X:50,162,089...50,238,707
Ensembl chr X:50,163,123...50,238,631
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G |
Il1rapl1 |
interleukin 1 receptor accessory protein-like 1 |
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ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 PMID:24504883 PMID:28492532 PMID:31705731 More...
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NCBI chr X:51,371,969...52,876,726
Ensembl chr X:51,378,215...52,876,772
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G |
Itga7 |
integrin subunit alpha 7 |
treatment |
ISO |
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RGD |
PMID:23319059 |
RGD:13601981 |
NCBI chr 7:1,360,125...1,388,886
Ensembl chr 7:1,359,940...1,388,450
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G |
Mageb1 |
MAGE family member B1 |
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ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 PMID:24504883 PMID:28492532 PMID:31705731 More...
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NCBI chr X:50,915,789...50,921,863
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G |
Mageb2 |
MAGE family member B2 |
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ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 PMID:24504883 PMID:28492532 PMID:31705731 More...
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NCBI chr X:50,827,538...50,833,272
Ensembl chr X:50,827,563...50,833,151
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G |
Mageb3 |
MAGE family member B3 |
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ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 PMID:24504883 PMID:28492532 PMID:31705731 More...
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NCBI chr X:50,865,484...50,866,479
Ensembl chr X:50,865,484...50,866,479
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
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RGD |
PMID:23977226 |
RGD:13204809 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Nos1 |
nitric oxide synthase 1 |
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ISO |
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RGD |
PMID:9542584 |
RGD:13825135 |
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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G |
Nr0b1 |
nuclear receptor subfamily 0, group B, member 1 |
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ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 PMID:24504883 PMID:24770780 PMID:28492532 PMID:31705731 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 |
Pkp2 |
plakophilin 2 |
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ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 PMID:33919104 More...
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NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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G |
Pla2g6 |
phospholipase A2 group VI |
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ISO |
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RGD |
PMID:22934738 |
RGD:12910703 |
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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G |
Postn |
periostin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21641384 |
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NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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G |
Snta1 |
syntrophin, alpha 1 |
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ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709
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G |
Stx1b |
syntaxin 1B |
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ISO |
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RGD |
PMID:26604869 |
RGD:12903957 |
NCBI chr 1:182,415,544...182,434,385
Ensembl chr 1:182,415,546...182,441,280
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G |
Stxbp1 |
syntaxin binding protein 1 |
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ISO |
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RGD |
PMID:26604869 |
RGD:12903957 |
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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G |
Tab3 |
TGF-beta activated kinase 1 (MAP3K7) binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 PMID:24504883 PMID:24770780 PMID:28492532 PMID:31705731 More...
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NCBI chr X:49,972,414...50,044,658
Ensembl chr X:49,972,330...50,042,056
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G |
Tasl |
TLR adaptor interacting with endolysosomal SLC15A4 |
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ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar |
PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 PMID:24504883 PMID:24770780 PMID:28492532 PMID:31705731 More...
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NCBI chr X:50,403,962...50,423,141
Ensembl chr X:50,361,248...50,423,269
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21641384 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
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ISO |
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RGD |
PMID:15616792 |
RGD:1580161 |
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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G |
Utrn |
utrophin |
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ISO |
ClinVar Annotator: match by term: Duchenne muscular dystrophy |
ClinVar RGD |
PMID:25741868 PMID:9288751 |
RGD:737706 |
NCBI chr 1:6,720,854...7,224,313
Ensembl chr 1:6,722,594...7,224,313
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G |
Eda |
ectodysplasin-A |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 PMID:9736768 PMID:9856856 PMID:10469321 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12930312 PMID:12947561 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:17066260 PMID:17576681 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18386315 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18688569 PMID:18821982 PMID:19278982 PMID:19438931 PMID:19504606 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:19960895 PMID:20077893 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22633615 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23687000 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24631698 PMID:24648697 PMID:24689965 PMID:24715423 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25640679 PMID:25741868 PMID:25846883 PMID:26273176 PMID:26345974 PMID:26411740 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27264909 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532 PMID:29444360 PMID:29676859 PMID:30088137 PMID:30117778 PMID:31129666 PMID:31306530 PMID:31489414 PMID:31652981 PMID:31796081 PMID:31852928 PMID:31924237 PMID:33205897 PMID:33502802 PMID:33943035 PMID:34573371 PMID:34863015 PMID:34906502 PMID:35023123 PMID:36071541 PMID:36294409 PMID:202361270 PMID:8696334 More...
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RGD:1598881 |
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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G |
Eda2r |
ectodysplasin A2 receptor |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia |
ClinVar |
PMID:22889853 |
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NCBI chr X:62,224,763...62,269,333
Ensembl chr X:62,228,229...62,269,268
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G |
Mvk |
mevalonate kinase |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic |
ClinVar |
PMID:25741868 |
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NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia CTD Direct Evidence: marker/mechanism DNA:mutation:splicing site: |
OMIM ClinVar CTD RGD |
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 PMID:11242109 PMID:11484156 PMID:11590134 PMID:12045264 PMID:14726382 PMID:15100680 PMID:15229184 PMID:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18179816 PMID:18222329 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25068423 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153 PMID:16333836 More...
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RGD:12791265 |
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Mcfd2 |
multiple coagulation factor deficiency 2, ER cargo receptor complex subunit |
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ISO |
ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2 DNA:missense mutation: :p.D122V (human) |
OMIM ClinVar RGD |
PMID:12717434 PMID:13229969 PMID:18391077 PMID:25741868 PMID:31064749 PMID:17610559 More...
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RGD:11062141 |
NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841
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G |
C3 |
complement C3 |
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ISO |
protein:increased expression:blood |
RGD |
PMID:6912882 |
RGD:11041156 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
C5 |
complement C5 |
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ISO |
protein:increased expression:blood |
RGD |
PMID:6912882 |
RGD:11041156 |
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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G |
Cd40lg |
CD40 ligand |
treatment |
ISO |
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RGD |
PMID:11776297 |
RGD:11352263 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Cfb |
complement factor B |
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ISO |
protein:increased expression:blood |
RGD |
PMID:6912882 |
RGD:11041156 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
Cfp |
complement factor properdin |
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ISO |
protein:increased expression:blood |
RGD |
PMID:6912882 |
RGD:11041156 |
NCBI chr X:1,162,014...1,167,576
Ensembl chr X:1,161,979...1,167,573
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G |
F2 |
coagulation factor II, thrombin |
treatment |
ISO |
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RGD |
PMID:26635073 |
RGD:11565076 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
F7 |
coagulation factor VII |
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ISO |
ClinVar Annotator: match by term: Hemophilia |
ClinVar |
PMID:25741868 |
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NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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G |
F8 |
coagulation factor VIII |
treatment |
ISO ISS IMP IAGP |
ClinVar Annotator: match by term: F8-related condition | ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A | ClinVar Annotator: match by term: Hemophilia A, congenital | ClinVar Annotator: match by term: Hemophilia, classic OMIM:306700 DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) CTD Direct Evidence: marker/mechanism DNA:missense mutations, nonsense mutations, frameshift mutation:exon:multiple |
ClinVar MouseDO CTD OMIM RGD |
PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1412186 PMID:1523102 PMID:1559571 PMID:1569180 PMID:1569181 PMID:1639429 PMID:1643024 PMID:1671991 PMID:1840568 PMID:1851341 PMID:1908096 PMID:1908817 PMID:1923751 PMID:1924291 PMID:1969840 PMID:1973901 PMID:1979502 PMID:2104741 PMID:2104766 PMID:2105106 PMID:2105906 PMID:2106480 PMID:2107542 PMID:2109644 PMID:2110545 PMID:2121026 PMID:2121641 PMID:2125022 PMID:2159433 PMID:2473810 PMID:2493803 PMID:2495245 PMID:2498882 PMID:2506948 PMID:2510835 PMID:2563431 PMID:2567219 PMID:2831458 PMID:2833855 PMID:2835307 PMID:2861360 PMID:2887317 PMID:2901224 PMID:2907841 PMID:2986011 PMID:2987704 PMID:2993888 PMID:3035554 PMID:3097553 PMID:3122181 PMID:3131627 PMID:3137981 PMID:3139545 PMID:6253938 PMID:6438527 PMID:7579394 PMID:7662970 PMID:7728145 PMID:7794769 PMID:7959679 PMID:7984443 PMID:8011517 PMID:8052958 PMID:8054459 PMID:8069313 PMID:8281136 PMID:8307558 PMID:8322269 PMID:8449505 PMID:8485051 PMID:8490618 PMID:8497853 PMID:8547094 PMID:8576960 PMID:8584995 PMID:8639447 PMID:8644728 PMID:8759905 PMID:9184393 PMID:9326186 PMID:9452104 PMID:9569189 PMID:9594277 PMID:9603440 PMID:9792405 PMID:9829908 PMID:9886318 PMID:10215414 PMID:10338101 PMID:10404764 PMID:10519986 PMID:10609755 PMID:10896236 PMID:10910910 PMID:10910913 PMID:11102988 PMID:11110718 PMID:11157485 PMID:11179760 PMID:11189482 PMID:11251334 PMID:11298607 PMID:11341489 PMID:11410838 PMID:11442643 PMID:11554935 PMID:11713379 PMID:11748850 PMID:11754115 PMID:11843836 PMID:11857744 PMID:11858487 PMID:11918545 PMID:12139751 PMID:12204009 PMID:12325022 PMID:12351418 PMID:12406074 PMID:12871415 PMID:12884004 PMID:15194549 PMID:15471879 PMID:15569173 PMID:15625837 PMID:15670040 PMID:15710596 PMID:15735794 PMID:15741993 PMID:15810915 PMID:15921397 PMID:15996930 PMID:16051741 PMID:16128892 PMID:16173970 PMID:16601827 PMID:16769589 PMID:16786531 PMID:16834740 PMID:16972227 PMID:17209060 PMID:17222201 PMID:17286776 PMID:17445092 PMID:17498081 PMID:17550859 PMID:17610549 PMID:17610560 PMID:18034822 PMID:18179574 PMID:18184865 PMID:18217193 PMID:18299331 PMID:18371163 PMID:18387975 PMID:18403393 PMID:18479430 PMID:18565236 PMID:18600086 PMID:18691168 PMID:18752578 PMID:19369668 PMID:19377476 PMID:19448530 PMID:19456877 PMID:19473408 PMID:19473423 PMID:19548904 PMID:19719548 PMID:19719828 PMID:19740093 PMID:20028422 PMID:20102490 PMID:20108389 PMID:20148980 PMID:20193250 PMID:20300295 PMID:20301578 PMID:20331753 PMID:20331761 PMID:20431853 PMID:20528906 PMID:20533009 PMID:20536985 PMID:20800587 PMID:20860608 PMID:21070499 PMID:21166991 PMID:21217077 PMID:21371196 PMID:21462120 PMID:21592259 PMID:21645180 PMID:21645224 PMID:21645226 PMID:21689372 PMID:21751985 PMID:21771207 PMID:21838755 PMID:21883705 PMID:21910785 PMID:22103590 PMID:22117735 PMID:22759210 PMID:22906111 PMID:22958177 PMID:23534532 PMID:23551875 PMID:23625609 PMID:23711237 PMID:23711294 PMID:23809411 PMID:23812942 PMID:23913812 PMID:23926300 PMID:23961341 PMID:23963097 PMID:24033266 PMID:24086941 PMID:24108539 PMID:24118398 PMID:24134483 PMID:24845853 PMID:24953131 PMID:24975702 PMID:25326637 PMID:25550078 PMID:25628142 PMID:25708597 PMID:25741868 PMID:25824987 PMID:25854144 PMID:25948085 PMID:25955082 PMID:26057490 PMID:26308136 PMID:26383047 PMID:26879396 PMID:26897466 PMID:27292088 PMID:27868395 PMID:28252515 PMID:28492532 PMID:28748566 PMID:29296726 PMID:29381227 PMID:29388750 PMID:30534853 PMID:30913330 PMID:30997536 PMID:31064749 PMID:32166871 PMID:32190902 PMID:32224444 PMID:32497379 PMID:32581362 PMID:32685904 PMID:32897612 PMID:32935414 PMID:33245802 PMID:33706050 PMID:34272389 PMID:34355501 PMID:34708896 PMID:34751920 PMID:35014236 PMID:35770352 PMID:36007526 PMID:16786531 PMID:31899798 PMID:20626616 PMID:24931420 PMID:10612839 PMID:10468616 More...
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RGD:1582357, RGD:150520060, RGD:7245964, RGD:11530071, RGD:10450758, RGD:10450757 |
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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G |
F8em1Sage |
coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage |
treatment |
IMP |
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RGD |
PMID:24931420 PMID:31899798 |
RGD:11530071, RGD:150520060 |
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G |
F8m1Ycb |
coagulation factor VIII, procoagulant component; mutation 1, Ycb |
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IAGP |
DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat) |
RGD |
PMID:20626616 |
RGD:7245964 |
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G |
F8em1Mcwi |
coagulation factor VIII, procoagulant component; CRISPR/Cas9 induced mutant1, Mcwi |
treatment |
IMP |
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RGD |
PMID:31899798 |
RGD:150520060 |
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G |
F8a1 |
coagulation factor VIII-associated 1 |
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ISO |
ClinVar Annotator: match by term: Factor VIII deficiency, congenital |
ClinVar |
PMID:2105106 PMID:18371163 PMID:22759210 PMID:22906111 PMID:29296726 |
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NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
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G |
F9 |
coagulation factor IX |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital |
CTD ClinVar |
PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 PMID:1968152 PMID:1972560 PMID:2066105 PMID:2087690 PMID:2198809 PMID:2220823 PMID:2472424 PMID:2752109 PMID:2773937 PMID:2929599 PMID:3181127 PMID:5298508 PMID:6603618 PMID:7482402 PMID:7797466 PMID:7873393 PMID:7937052 PMID:8055323 PMID:8091381 PMID:8257988 PMID:8314564 PMID:8320491 PMID:8401514 PMID:8470048 PMID:8680410 PMID:8772212 PMID:9222764 PMID:9450791 PMID:10094553 PMID:10192459 PMID:10373456 PMID:10595634 PMID:10698280 PMID:10739381 PMID:10874302 PMID:11122099 PMID:11328285 PMID:12588353 PMID:12687663 PMID:14675097 PMID:15178576 PMID:15569175 PMID:15921378 PMID:16051741 PMID:16643212 PMID:17014892 PMID:18479429 PMID:19699296 PMID:22103590 PMID:22544209 PMID:22639855 PMID:23093250 PMID:24219067 PMID:24375831 PMID:24759143 PMID:25326637 PMID:25741868 PMID:27529981 PMID:27734074 PMID:27865967 PMID:28193338 PMID:28492532 PMID:28722788 PMID:29656491 PMID:29993188 PMID:31064749 PMID:32155688 PMID:32267853 PMID:32581362 PMID:34272389 PMID:34355501 PMID:34590426 PMID:34708896 PMID:35770352 More...
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NCBI chr X:138,352,334...138,396,835
Ensembl chr X:138,352,298...138,396,835
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G |
Fcgr2a |
Fc gamma receptor 2A |
susceptibility |
ISO |
DNA:SNP:cds:p.R131H (human) |
RGD |
PMID:24916518 |
RGD:11040767 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Factor VIII deficiency, congenital |
ClinVar |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Fundc2 |
FUN14 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A |
ClinVar |
PMID:2105106 PMID:2563431 |
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NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
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G |
H2ab3 |
H2A.B variant histone 3 |
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ISO |
ClinVar Annotator: match by term: Factor VIII deficiency, congenital |
ClinVar |
PMID:2105106 PMID:18371163 PMID:22759210 PMID:22906111 PMID:29296726 |
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NCBI chr X:82,362,531...82,363,105
Ensembl chr X:82,362,633...82,362,983
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G |
Hmox1 |
heme oxygenase 1 |
treatment |
ISO |
DNA:repeat:promoter |
RGD |
PMID:23716558 |
RGD:10755564 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Ifng |
interferon gamma |
treatment |
ISO |
DNA:SNP: :+874 A>T (human) |
RGD |
PMID:25930091 |
RGD:11055683 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il10 |
interleukin 10 |
treatment |
ISO |
DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) |
RGD |
PMID:20082647 |
RGD:11049183 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Mpp1 |
MAGUK p55 scaffold protein 1 |
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ISO |
ClinVar Annotator: match by term: Factor VIII deficiency, congenital |
ClinVar |
PMID:2105106 |
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G |
Mthfr |
methylenetetrahydrofolate reductase |
severity no_association |
ISO |
DNA:SNP: :677C>T (human) DNA:SNP: :1298A>C (human) |
RGD |
PMID:22411997 PMID:22411997 |
RGD:10449409, RGD:10449409 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: Factor VIII deficiency, congenital |
ClinVar |
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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G |
Plat |
plasminogen activator, tissue type |
treatment |
ISO |
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RGD |
PMID:1419807 |
RGD:11552591 |
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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G |
RT1-Ba |
RT1 class II, locus Ba |
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ISO |
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RGD |
PMID:9157572 |
RGD:11041784 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Factor VIII deficiency, congenital |
ClinVar |
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NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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G |
Tfpi |
tissue factor pathway inhibitor |
treatment |
ISO |
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RGD |
PMID:24263002 PMID:24687919 PMID:22355108 |
RGD:11060141, RGD:11060256, RGD:11060147 |
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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G |
Tgfb1 |
transforming growth factor, beta 1 |
treatment |
ISO |
DNA:polymorphism: :869T>C(rs1982037)(human) |
RGD |
PMID:25930091 |
RGD:11055683 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: Factor VIII deficiency, congenital |
ClinVar |
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NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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G |
Vwf |
von Willebrand factor |
treatment |
ISO |
ClinVar Annotator: match by term: Factor VIII deficiency, congenital |
ClinVar RGD |
PMID:25741868 PMID:25955153 |
RGD:11073776 |
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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G |
F8 |
coagulation factor VIII |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11886462 |
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NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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G |
Lman1 |
lectin, mannose-binding, 1 |
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ISO |
ClinVar Annotator: match by term: FMFD I |
OMIM ClinVar |
PMID:9045860 PMID:9546392 PMID:18391077 PMID:25741868 PMID:31064749 |
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NCBI chr18:59,508,996...59,530,873
Ensembl chr18:59,508,996...59,530,851
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G |
Mcfd2 |
multiple coagulation factor deficiency 2, ER cargo receptor complex subunit |
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ISO |
ClinVar Annotator: match by term: FMFD I |
ClinVar |
PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749 |
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NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841
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G |
Fancb |
FA complementation group B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B |
OMIM CTD ClinVar |
PMID:8368240 PMID:15502827 PMID:16679491 PMID:17924555 PMID:21910217 PMID:23613520 PMID:24033266 PMID:25168418 PMID:25741868 PMID:28492532 PMID:32106311 PMID:32546565 More...
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NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
DNA:missense mutation:exon:p.R28L (c.83G>T) (human) ClinVar Annotator: match by term: FG syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:25741868 PMID:19200522 |
RGD:11576290 |
NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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G |
Flna |
filamin A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17632775 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome DNA:missense mutation:cds:2881C>T(p.R961W)(human) DNA:missense mutation:cds:p.G958E(human) |
CTD ClinVar RGD |
PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 PMID:16199547 PMID:16700052 PMID:17334363 PMID:17369503 PMID:17576681 PMID:18414213 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20981778 PMID:23091001 PMID:23395478 PMID:23506379 PMID:23757202 PMID:24033266 PMID:24039113 PMID:24077912 PMID:24715367 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25644381 PMID:25741868 PMID:26273451 PMID:26338144 PMID:26350204 PMID:26467025 PMID:26813965 PMID:27081531 PMID:27312080 PMID:27500536 PMID:27620904 PMID:27980443 PMID:28369444 PMID:28492532 PMID:28544239 PMID:28794916 PMID:30006928 PMID:30729724 PMID:31536828 PMID:32174975 PMID:32371413 PMID:32410215 PMID:32682435 PMID:32715471 PMID:32779332 PMID:33023636 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34008892 PMID:34079076 PMID:34573309 PMID:36271811 PMID:17334363 PMID:20507344 More...
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RGD:12910952, RGD:12910948 |
NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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G |
Foxo4 |
forkhead box O4 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,385,241...66,392,115
Ensembl chr X:66,385,558...66,392,115
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G |
Gjb1 |
gap junction protein, beta 1 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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G |
Il2rg |
interleukin 2 receptor subunit gamma |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,395,330...66,399,026
Ensembl chr X:66,392,542...66,399,823
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G |
Itgb1bp2 |
integrin subunit beta 1 binding protein 2 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,572,537...66,577,174
Ensembl chr X:66,572,537...66,577,174
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
OMIM ClinVar |
PMID:6711603 PMID:8279489 PMID:9286458 PMID:9536098 PMID:10405444 PMID:16700052 PMID:17334363 PMID:17369503 PMID:17576681 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20507344 PMID:20981778 PMID:23091001 PMID:23395478 PMID:23506379 PMID:24039113 PMID:24077912 PMID:24715367 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25644381 PMID:25741868 PMID:26273451 PMID:26338144 PMID:26350204 PMID:27081531 PMID:27286923 PMID:27312080 PMID:27500536 PMID:27620904 PMID:27980443 PMID:28369444 PMID:28492532 PMID:28544239 PMID:28794916 PMID:30006928 PMID:30729724 PMID:31322785 PMID:31536828 PMID:32174975 PMID:32371413 PMID:32682435 PMID:32715471 PMID:32779332 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34079076 PMID:34573309 PMID:36271811 More...
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NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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G |
Nlgn3 |
neuroligin 3 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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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 |
Nono |
non-POU domain containing, octamer-binding |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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G |
Slc7a3 |
solute carrier family 7 member 3 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,210,071...66,216,482
Ensembl chr X:66,210,081...66,215,708
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G |
Snx12 |
sorting nexin 12 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,226,995...66,356,945
Ensembl chr X:66,227,053...66,356,950
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G |
Taf1 |
TATA-box binding protein associated factor 1 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,640,915...66,716,543
Ensembl chr X:66,640,982...66,716,543
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G |
Tex11 |
testis expressed 11 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:65,932,904...66,196,525
Ensembl chr X:65,932,988...66,196,187
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G |
Zmym3 |
zinc finger MYM-type containing 3 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:66,528,585...66,544,234
Ensembl chr X:66,528,585...66,544,782
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: FG syndrome 2 |
OMIM ClinVar |
PMID:10982489 PMID:12612583 PMID:16299064 PMID:16417552 PMID:16822260 PMID:17632775 PMID:18414213 PMID:22522697 PMID:25167861 PMID:25741868 PMID:26467025 PMID:28133863 PMID:28492532 PMID:29720203 PMID:30089473 PMID:30712057 PMID:30986657 PMID:35000503 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Cask |