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G |
Acbd5 |
acyl-CoA binding domain containing 5 |
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ISS |
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MouseDO |
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NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215
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G |
Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9345094 PMID:16385454 |
|
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisomal disorder |
ClinVar |
PMID:9398847 PMID:9398848 PMID:10384394 PMID:10447258 PMID:11389485 PMID:12402331 PMID:15098231 PMID:16141001 PMID:17055079 PMID:19105186 PMID:20301621 PMID:21031596 PMID:21846392 PMID:21862673 PMID:22871920 PMID:24503136 PMID:25412400 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26467025 PMID:26643206 PMID:27090541 PMID:27872819 PMID:27882258 PMID:28492532 PMID:28559085 PMID:29377746 PMID:29588463 PMID:29907799 PMID:30362618 PMID:30577886 PMID:31150129 PMID:31216405 PMID:31319225 PMID:31374812 PMID:31589614 PMID:31664448 PMID:31884617 PMID:31964843 PMID:31980526 PMID:32866347 PMID:33749171 PMID:34426522 PMID:34758253 PMID:35586607 PMID:36631813 More...
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NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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G |
Pex10 |
peroxisomal biogenesis factor 10 |
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ISO |
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RGD |
PMID:25176044 |
RGD:13207455 |
NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
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ISO |
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RGD |
PMID:15732085 |
RGD:13207458 |
NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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G |
Pex6 |
peroxisomal biogenesis factor 6 |
|
IMP |
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RGD |
PMID:7493019 |
RGD:729462 |
NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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G |
Phyh |
phytanoyl-CoA 2-hydroxylase |
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ISO |
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RGD |
PMID:9266377 |
RGD:13831311 |
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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G |
Pipox |
pipecolic acid and sarcosine oxidase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10642506 |
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NCBI chr10:62,769,874...62,783,484
Ensembl chr10:62,769,900...62,782,370
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G |
Cat |
catalase |
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ISO |
ClinVar Annotator: match by term: Acatalasemia, japanese type | ClinVar Annotator: match by term: Acatalasia | ClinVar Annotator: match by term: CAT-related condition CTD Direct Evidence: marker/mechanism|therapeutic |
OMIM ClinVar CTD |
PMID:1551654 PMID:2308162 PMID:8673475 PMID:11001624 PMID:11117918 PMID:11197178 PMID:25741868 PMID:26074427 PMID:28492532 PMID:34390818 More...
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NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: ABCD1-related condition | 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:33327995 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:37977233 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
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G |
Acsbg1 |
acyl-CoA synthetase bubblegum family member 1 |
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ISO |
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RGD |
PMID:15800013 |
RGD:11065111 |
NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391
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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...
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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 |
|
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
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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
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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
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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
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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
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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
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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
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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...
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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 |
|
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
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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
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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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|
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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 |
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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 chr18:128,473...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: 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
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G |
Gdi1 |
GDP dissociation inhibitor 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: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: 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
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G |
Haus7 |
HAUS augmin-like complex, subunit 7 |
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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:151,154,979...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: 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 3-beta-hydroxysteroid dehydrogenase NSDHL |
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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 |
|
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 |
Phyh |
phytanoyl-CoA 2-hydroxylase |
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ISO |
ClinVar Annotator: match by term: Refsum disease, adult, 1 |
ClinVar |
PMID:1155634 PMID:2433405 PMID:9326939 PMID:9326940 PMID:9657395 PMID:10767344 PMID:11555634 PMID:11948235 PMID:14974078 PMID:17905308 PMID:18612766 PMID:25525159 PMID:25741868 PMID:28041643 PMID:28470644 PMID:28492532 PMID:28681609 PMID:31240149 PMID:31816670 PMID:31964843 PMID:34426522 PMID:34906470 More...
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NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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G |
Agxt2 |
alanine-glyoxylate aminotransferase 2 |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926
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G |
Amacr |
alpha-methylacyl-CoA racemase |
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ISO ISS |
OMIM:614307 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:10655068 PMID:12438241 PMID:12512044 PMID:15249642 PMID:16199547 PMID:17576681 PMID:18032455 PMID:20558530 PMID:20818383 PMID:20821052 PMID:21576695 PMID:21686617 PMID:23286897 PMID:25133958 PMID:25741868 PMID:28492532 PMID:30369941 PMID:34440436 More...
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NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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G |
Brix1 |
biogenesis of ribosomes BRX1 |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:59,450,608...59,461,486
Ensembl chr 2:59,450,614...59,461,495
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G |
C1qtnf3 |
C1q and TNF related 3 |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:59,917,099...59,939,519
Ensembl chr 2:59,917,188...59,939,433
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G |
Dnajc21 |
DnaJ heat shock protein family (Hsp40) member C21 |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752
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G |
Prlr |
prolactin receptor |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718
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G |
Rad1 |
RAD1 checkpoint DNA exonuclease |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:59,461,597...59,469,707
Ensembl chr 2:59,461,607...59,469,689
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G |
Rai14 |
retinoic acid induced 14 |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:59,546,284...59,682,687
Ensembl chr 2:59,546,284...59,681,971
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G |
Slc45a2 |
solute carrier family 45, member 2 |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
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G |
Ttc23l |
tetratricopeptide repeat domain 23-like |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 2:59,476,666...59,538,313
Ensembl chr 2:59,476,669...59,538,282
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
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ISO |
ClinVar Annotator: match by term: Cerebrohepatorenal syndrome, variant types |
ClinVar |
PMID:25741868 PMID:26344566 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 More...
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NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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G |
Ndrg1 |
N-myc downstream regulated 1 |
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ISO ISS |
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D OMIM:601455 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 PMID:17470135 PMID:17576681 PMID:20301641 PMID:20582309 PMID:21892769 PMID:23393557 PMID:23996628 PMID:24136616 PMID:25108819 PMID:25231362 PMID:25741868 PMID:26002053 PMID:26467025 PMID:28454995 PMID:28492532 PMID:30311386 PMID:31673878 PMID:32376792 PMID:36413997 More...
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NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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G |
Amacr |
alpha-methylacyl-CoA racemase |
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ISO |
ClinVar Annotator: match by term: AMACR-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9584266 PMID:10655068 PMID:12438241 PMID:12512044 PMID:15249642 PMID:18032455 PMID:20818383 PMID:20821052 PMID:21576695 PMID:21686617 PMID:25133958 PMID:25741868 PMID:28492532 PMID:30369941 More...
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NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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G |
Slc45a2 |
solute carrier family 45, member 2 |
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ISO |
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
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G |
Brat1 |
BRCA1-associated ATM activator 1 |
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ISO |
ClinVar Annotator: match by term: DBP deficiency |
ClinVar |
PMID:16385454 PMID:22279524 PMID:23035047 PMID:28492532 |
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NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
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G |
C3 |
complement C3 |
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ISO |
ClinVar Annotator: match by term: DBP deficiency |
ClinVar |
PMID:16385454 PMID:18796626 PMID:20301500 PMID:20301541 PMID:28492532 PMID:29888403 More...
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NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
severity |
ISO ISS |
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: D-bifunctional protein deficiency | ClinVar Annotator: match by term: DBP deficiency OMIM:261515 DNA:mutations:multiple (human) |
ClinVar MouseDO OMIM RGD |
PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10400999 PMID:10419023 PMID:10497229 PMID:10671535 PMID:10748062 PMID:11330053 PMID:11743515 PMID:11810648 PMID:11992265 PMID:12562856 PMID:16199547 PMID:16385454 PMID:17576681 PMID:20673864 PMID:20681997 PMID:22507161 PMID:22864515 PMID:23100014 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:24602372 PMID:25741868 PMID:25882080 PMID:25954003 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27124789 PMID:27243974 PMID:27290639 PMID:27528516 PMID:27618451 PMID:27790638 PMID:28017249 PMID:28490743 PMID:28492532 PMID:28649525 PMID:28708278 PMID:28830375 PMID:28973083 PMID:30396834 PMID:30561787 PMID:31230720 PMID:31455392 PMID:32042923 PMID:32904102 PMID:33510602 PMID:33539324 PMID:34440436 PMID:34534157 PMID:34623748 PMID:34645488 PMID:34660840 PMID:34719423 PMID:34732400 PMID:34906502 PMID:36939041 PMID:9345094 PMID:16385454 More...
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RGD:1599968, RGD:10411884 |
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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G |
Etfa |
electron transfer flavoprotein subunit alpha |
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ISO |
ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency |
ClinVar |
PMID:31690835 |
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NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
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G |
Sugct |
succinylCoA:glutarate-CoA transferase |
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ISO ISS |
ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency | ClinVar Annotator: match by term: SUGCT-related condition OMIM:231690 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1909402 PMID:12555941 PMID:18925613 PMID:18926513 PMID:20818383 PMID:23893049 PMID:24467814 PMID:25741868 PMID:28492532 PMID:28766179 PMID:31028937 PMID:31722069 PMID:31980526 PMID:34532947 More...
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NCBI chr17:47,376,392...48,234,362
Ensembl chr17:47,376,521...48,234,376
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G |
Gatad1 |
GATA zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C |
ClinVar |
PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:25326635 PMID:25525159 PMID:25741868 PMID:26319495 PMID:26387595 PMID:26467025 PMID:27124789 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:28446956 PMID:28492532 PMID:29261186 PMID:29419819 PMID:30561787 PMID:30733538 PMID:31374812 PMID:31628608 PMID:31831025 PMID:31964843 PMID:32203225 PMID:32483926 PMID:33083013 PMID:33708531 PMID:33955040 PMID:33955814 PMID:34513757 PMID:36046390 PMID:37385119 More...
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NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
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ISO |
ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 PMID:9398848 PMID:9536098 PMID:9539740 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:11439091 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:19877282 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:21862673 PMID:22871920 PMID:23247051 PMID:23757202 PMID:24033266 PMID:24503136 PMID:25133751 PMID:25182519 PMID:25326635 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26319495 PMID:26387595 PMID:26467025 PMID:26594346 PMID:26643206 PMID:27090541 PMID:27124789 PMID:27231023 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:27872819 PMID:27882258 PMID:28432012 PMID:28446956 PMID:28454995 PMID:28468868 PMID:28492532 PMID:28559085 PMID:28857144 PMID:29261186 PMID:29377746 PMID:29419819 PMID:29588463 PMID:29907799 PMID:30362618 PMID:30561787 PMID:30577886 PMID:30733538 PMID:31150129 PMID:31216405 PMID:31319225 PMID:31374812 PMID:31589614 PMID:31628608 PMID:31664448 PMID:31742715 PMID:31831025 PMID:31884617 PMID:31964843 PMID:31980526 PMID:32203225 PMID:32483926 PMID:32866347 PMID:32959227 PMID:33083013 PMID:33708531 PMID:33749171 PMID:33955040 PMID:33955814 PMID:34426522 PMID:34448047 PMID:34513757 PMID:34744965 PMID:34758253 PMID:35586607 PMID:36046390 PMID:36631813 PMID:37385119 More...
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NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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G |
Pex26 |
peroxisomal biogenesis factor 26 |
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ISO |
ClinVar Annotator: match by term: Heimler syndrome 1 |
ClinVar |
PMID:28492532 |
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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 |
Pex6 |
peroxisomal biogenesis factor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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G |
Pex6 |
peroxisomal biogenesis factor 6 |
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ISO |
ClinVar Annotator: match by term: Heimler syndrome 2 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 4C |
OMIM ClinVar |
PMID:3515938 PMID:8670792 PMID:9536098 PMID:10408779 PMID:11004248 PMID:11355018 PMID:11873320 PMID:15542397 PMID:15858711 PMID:16199547 PMID:16530715 PMID:17041890 PMID:17576681 PMID:19105186 PMID:19142205 PMID:19877282 PMID:21031596 PMID:21520333 PMID:22871920 PMID:22894767 PMID:23757202 PMID:24016303 PMID:24033266 PMID:24459294 PMID:25079577 PMID:25079599 PMID:25525159 PMID:25741868 PMID:26275793 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26593283 PMID:26669662 PMID:26700162 PMID:26943801 PMID:27007981 PMID:27302843 PMID:27604308 PMID:27779215 PMID:27848944 PMID:28492532 PMID:28857144 PMID:29220678 PMID:29676688 PMID:30476936 PMID:30793331 PMID:31216405 PMID:31374812 PMID:31555682 PMID:31831025 PMID:31884617 PMID:31964843 PMID:31980526 PMID:32214787 PMID:32399598 PMID:33003980 PMID:33776059 PMID:34055681 PMID:34234304 PMID:34387732 PMID:34448047 PMID:34662339 PMID:36785559 More...
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NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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G |
Abcc10 |
ATP binding cassette subfamily C member 10 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,657,242...14,677,178
Ensembl chr 9:14,657,264...14,677,178
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G |
Bicral |
BICRA like chromatin remodeling complex associated protein |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,100,253...14,185,368
Ensembl chr 9:14,154,209...14,183,671
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G |
Bysl |
bystin-like |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,382,806...13,392,557
Ensembl chr 9:13,382,557...13,394,339
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G |
C9h6orf132 |
similar to human chromosome 6 open reading frame 132 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,524,822...13,561,756
Ensembl chr 9:13,525,395...13,561,585
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G |
Ccnd3 |
cyclin D3 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371
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G |
Cnpy3 |
canopy FGF signaling regulator 3 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,233,478...14,247,847
Ensembl chr 9:14,233,428...14,247,831
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G |
Creb3l1 |
cAMP responsive element binding protein 3-like 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456
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G |
Crip3 |
cysteine-rich protein 3 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,554,450...14,557,344
Ensembl chr 9:14,554,450...14,557,302
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G |
Cry2 |
cryptochrome circadian regulator 2 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965
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G |
Cul7 |
cullin 7 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
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G |
Cul9 |
cullin 9 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,435,948...14,479,552
Ensembl chr 9:14,436,111...14,479,548
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G |
Dgkz |
diacylglycerol kinase zeta |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099
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G |
Dlk2 |
delta like non-canonical Notch ligand 2 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,677,102...14,681,584
Ensembl chr 9:14,676,562...14,681,594
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G |
Dnph1 |
2'-deoxynucleoside 5'-phosphate N-hydrolase 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,481,296...14,484,034
Ensembl chr 9:14,481,066...14,484,022
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G |
Foxp4 |
forkhead box P4 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,058,506...13,115,406
Ensembl chr 9:13,058,476...13,114,879
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G |
Frey1 |
Frey regulator of sperm-oocyte fusion 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,354,303...78,355,055
Ensembl chr 3:78,354,303...78,355,055
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G |
Frs3 |
fibroblast growth factor receptor substrate 3 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,288,559...13,297,285
Ensembl chr 9:13,288,667...13,295,382
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G |
Gatad1 |
GATA zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease |
ClinVar |
PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:25525159 PMID:25741868 PMID:26319495 PMID:26387595 PMID:26467025 PMID:27124789 PMID:27302843 PMID:27353947 PMID:27848944 PMID:28446956 PMID:28492532 PMID:29419819 PMID:30561787 PMID:30733538 PMID:31374812 PMID:31831025 PMID:32203225 PMID:32483926 PMID:33083013 PMID:33708531 PMID:33955040 PMID:33955814 PMID:34513757 PMID:36046390 PMID:37385119 More...
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NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
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G |
Gnmt |
glycine N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:26669662 PMID:27779215 PMID:28492532 More...
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NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
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G |
Gtpbp2 |
GTP binding protein 2 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,813,964...14,823,419
Ensembl chr 9:14,813,964...14,823,241
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G |
Guca1a |
guanylate cyclase activator 1A |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565
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G |
Guca1b |
guanylate cyclase activator 1B |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455
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G |
Klc4 |
kinesin light chain 4 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,337,164...14,351,075
Ensembl chr 9:14,337,534...14,351,066
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G |
Klhdc3 |
kelch domain containing 3 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,302,345...14,308,736
Ensembl chr 9:14,302,354...14,308,736
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G |
Large2 |
LARGE xylosyl- and glucuronyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,334,627...78,347,167
Ensembl chr 3:78,336,056...78,342,184
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G |
Lrrc73 |
leucine rich repeat containing 73 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,726,157...14,730,144
Ensembl chr 9:14,726,158...14,729,158
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G |
Mad2l1bp |
MAD2L1 binding protein |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,832,133...14,836,458
Ensembl chr 9:14,832,132...14,837,447
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G |
Mapk8ip1 |
mitogen-activated protein kinase 8 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,355,051...78,372,946
Ensembl chr 3:78,355,048...78,372,884
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G |
Mdfi |
MyoD family inhibitor |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,156,806...13,175,218
Ensembl chr 9:13,156,866...13,175,217
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G |
Mea1 |
male-enhanced antigen 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,300,283...14,304,130
Ensembl chr 9:14,293,446...14,302,060
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G |
Med20 |
mediator complex subunit 20 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,370,146...13,382,756
Ensembl chr 9:13,370,146...13,382,476
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G |
Mrpl2 |
mitochondrial ribosomal protein L2 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
|
NCBI chr 9:14,333,233...14,337,006
Ensembl chr 9:14,333,234...14,337,040
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G |
Mrps10 |
mitochondrial ribosomal protein S10 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
|
NCBI chr 9:13,614,897...13,624,819
Ensembl chr 9:13,614,897...13,624,779
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G |
Mrps18a |
mitochondrial ribosomal protein S18A |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
|
NCBI chr 9:14,853,322...14,869,819
Ensembl chr 9:14,853,291...14,869,835
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G |
Ncr2 |
natural cytotoxicity triggering receptor 2 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:12,777,195...12,828,437
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 PMID:9398848 PMID:9536098 PMID:9539740 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:11439091 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:19877282 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:21862673 PMID:22871920 PMID:23247051 PMID:23757202 PMID:24033266 PMID:24503136 PMID:25133751 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26319495 PMID:26387595 PMID:26467025 PMID:26643206 PMID:27090541 PMID:27124789 PMID:27231023 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:27872819 PMID:27882258 PMID:28446956 PMID:28468868 PMID:28492532 PMID:28559085 PMID:29377746 PMID:29419819 PMID:29588463 PMID:29907799 PMID:30362618 PMID:30561787 PMID:30577886 PMID:30733538 PMID:31150129 PMID:31216405 PMID:31319225 PMID:31374812 PMID:31589614 PMID:31664448 PMID:31742715 PMID:31831025 PMID:31884617 PMID:31964843 PMID:31980526 PMID:32056211 PMID:32203225 PMID:32214227 PMID:32483926 PMID:32866347 PMID:32959227 PMID:33083013 PMID:33708531 PMID:33749171 PMID:33955040 PMID:33955814 PMID:34426522 PMID:34513757 PMID:34744965 PMID:34758253 PMID:35586607 PMID:36046390 PMID:36631813 PMID:37385119 More...
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NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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G |
Pex10 |
peroxisomal biogenesis factor 10 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9683594 PMID:9700193 PMID:10527683 PMID:10862081 PMID:12794690 PMID:15542397 PMID:17041890 PMID:17702006 PMID:19105186 PMID:19127411 PMID:19142205 PMID:20301621 PMID:20695019 PMID:21031596 PMID:21465523 PMID:25525159 PMID:25741868 PMID:27230853 PMID:28320181 PMID:28492532 PMID:30640048 More...
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NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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G |
Pex11b |
peroxisomal biogenesis factor 11 beta |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
|
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NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495
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G |
Pex12 |
peroxisomal biogenesis factor 12 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9090384 PMID:9536098 PMID:9632816 PMID:9792857 PMID:10527683 PMID:10562279 PMID:10837480 PMID:12032265 PMID:14571262 PMID:14630978 PMID:15184617 PMID:15241794 PMID:15542397 PMID:16199547 PMID:17576681 PMID:19105186 PMID:19127411 PMID:19877282 PMID:21031596 PMID:21465523 PMID:24627108 PMID:25287621 PMID:25741868 PMID:26094004 PMID:28492532 PMID:29389947 More...
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NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428
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G |
Pex13 |
peroxisomal biogenesis factor 13 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9480815 PMID:10332040 PMID:10441568 PMID:16006427 PMID:21031596 PMID:25741868 PMID:27827795 PMID:28492532 PMID:33190326 PMID:35854306 PMID:37962062 More...
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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 |
Pex16 |
peroxisomal biogenesis factor 16 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) |
ClinVar |
PMID:9536098 PMID:9837814 PMID:11890679 PMID:16199547 PMID:17576681 PMID:20647552 PMID:20681997 PMID:24091540 PMID:25287621 PMID:25326635 PMID:25741868 PMID:27391121 PMID:28492532 PMID:30078639 PMID:31227335 PMID:35106698 More...
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NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
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G |
Pex2 |
peroxisomal biogenesis factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE |
CTD ClinVar |
PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 PMID:10528859 PMID:10652207 PMID:10960480 PMID:14630978 PMID:15542397 PMID:17041890 PMID:21031596 PMID:21465523 PMID:23430938 PMID:23590336 PMID:23829372 PMID:25333069 PMID:25741868 PMID:28089346 PMID:28492532 More...
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NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404
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G |
Pex26 |
peroxisomal biogenesis factor 26 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
CTD ClinVar |
PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 PMID:16199547 PMID:16257970 PMID:19105186 PMID:19877282 PMID:21031596 PMID:25016021 PMID:25741868 PMID:26287655 PMID:26627908 PMID:27392320 PMID:28492532 PMID:28944237 PMID:29947050 PMID:30366024 PMID:30446579 More...
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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 |
Pex3 |
peroxisomal biogenesis factor 3 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:10942428 PMID:21031596 PMID:28492532 |
|
NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
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G |
Pex39 |
peroxisomal biogenesis factor 39 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
|
NCBI chr 9:14,207,988...14,209,134
Ensembl chr 9:14,208,417...14,208,761
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:10462504 PMID:17532062 PMID:20681997 PMID:28492532 PMID:30561787 PMID:34645488 More...
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NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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G |
Pex6 |
peroxisomal biogenesis factor 6 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile Refsum's disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B |
ClinVar |
PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 PMID:11355018 PMID:11873320 PMID:15542397 PMID:15858711 PMID:16199547 PMID:16530715 PMID:17041890 PMID:17190851 PMID:17576681 PMID:19105186 PMID:19142205 PMID:19763152 PMID:19877282 PMID:20301621 PMID:20307669 PMID:21031596 PMID:21520333 PMID:22406018 PMID:22871920 PMID:22894767 PMID:23757202 PMID:24016303 PMID:24033266 PMID:24459294 PMID:25079577 PMID:25079599 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25741915 PMID:26094004 PMID:26275793 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26593283 PMID:26669662 PMID:26700162 PMID:26943801 PMID:27007981 PMID:27302843 PMID:27604308 PMID:27779215 PMID:27848944 PMID:28492532 PMID:28857144 PMID:29047053 PMID:29220678 PMID:29419819 PMID:29676688 PMID:30476936 PMID:30793331 PMID:31216405 PMID:31374812 PMID:31555682 PMID:31831025 PMID:31884617 PMID:31964843 PMID:31980526 PMID:32214787 PMID:32399598 PMID:33003980 PMID:33776059 PMID:34055681 PMID:34234304 PMID:34387732 PMID:34448047 PMID:34662339 PMID:36649687 PMID:36785559 PMID:37144748 More...
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NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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G |
Pgc |
progastricsin |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,257,462...13,265,682
Ensembl chr 9:13,257,462...13,265,682
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G |
Phf21a |
PHD finger protein 21A |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,158,760...78,331,903
Ensembl chr 3:78,194,549...78,331,865
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G |
Polh |
DNA polymerase eta |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,778,355...14,813,210
Ensembl chr 9:14,777,888...14,812,723
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G |
Polr1c |
RNA polymerase I and III subunit C |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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G |
Ppp2r5d |
protein phosphatase 2, regulatory subunit B', delta |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400
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G |
Prickle4 |
prickle planar cell polarity protein 4 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,297,494...13,305,635
Ensembl chr 9:13,297,758...13,305,630
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G |
Prph2 |
peripherin 2 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
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G |
Ptcra |
pre T-cell antigen receptor alpha |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,218,907...14,229,141
Ensembl chr 9:14,218,802...14,229,235
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G |
Ptk7 |
protein tyrosine kinase 7 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,352,155...14,418,473
Ensembl chr 9:14,351,202...14,418,494
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G |
Rpl7l1 |
ribosomal protein L7-like 1 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,198,101...14,206,119
Ensembl chr 9:14,198,092...14,206,110
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G |
Rrp36 |
ribosomal RNA processing 36 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,308,956...14,316,959
Ensembl chr 9:14,308,982...14,316,110
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G |
Rsph9 |
radial spoke head component 9 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,840,115...14,852,950
Ensembl chr 9:14,840,115...14,860,062
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G |
Slc22a7 |
solute carrier family 22 member 7 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,547,073...14,554,354
Ensembl chr 9:14,547,849...14,553,921
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G |
Slc35c1 |
solute carrier family 35 member C1 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,421,925...78,429,603
Ensembl chr 3:78,421,933...78,428,520
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G |
Srf |
serum response factor |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
|
NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
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G |
Taf8 |
TATA-box binding protein associated factor 8 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,491,892...13,511,713
Ensembl chr 9:13,491,937...13,511,717
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G |
Tbcc |
tubulin folding cofactor C |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,098,855...14,100,043
Ensembl chr 9:14,098,868...14,100,042
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G |
Tfeb |
transcription factor EB |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,198,890...13,254,726
Ensembl chr 9:13,198,891...13,254,714
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G |
Tjap1 |
tight junction associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,701,418...14,725,623
Ensembl chr 9:14,701,468...14,725,751
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G |
Tomm6 |
translocase of outer mitochondrial membrane 6 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,304,269...13,305,637
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G |
Trem1 |
triggering receptor expressed on myeloid cells 1 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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G |
Trem2 |
triggering receptor expressed on myeloid cells 2 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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G |
Treml2 |
triggering receptor expressed on myeloid cells-like 2 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:12,694,453...12,705,379
Ensembl chr 9:12,694,697...12,705,324
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G |
Treml4 |
triggering receptor expressed on myeloid cells-like 4 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:12,718,968...12,743,879
Ensembl chr 9:12,721,815...12,743,253
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G |
Trerf1 |
transcriptional regulating factor 1 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,631,619...13,858,326
Ensembl chr 9:13,634,126...13,857,029
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G |
Ttbk1 |
tau tubulin kinase 1 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
|
NCBI chr 9:14,493,166...14,538,372
Ensembl chr 9:14,493,389...14,535,774
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G |
Ubr2 |
ubiquitin protein ligase E3 component n-recognin 2 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,982,427...14,062,315
Ensembl chr 9:13,982,329...14,062,139
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G |
Usp49 |
ubiquitin specific peptidase 49 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,305,640...13,366,132
Ensembl chr 9:13,308,178...13,366,132
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Xpo5 |
exportin 5 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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G |
Yipf3 |
Yip1 domain family, member 3 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,730,289...14,735,644
Ensembl chr 9:14,730,284...14,735,641
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G |
Zfp318 |
zinc finger protein 318 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,562,958...14,601,557
Ensembl chr 9:14,563,313...14,601,409
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G |
Crp |
C-reactive protein |
disease_progression |
ISO |
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RGD |
PMID:7780142 |
RGD:9585642 |
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12477733 |
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NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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G |
Mmab |
metabolism of cobalamin associated B |
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ISO |
ClinVar Annotator: match by term: Mevalonic aciduria |
ClinVar |
PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
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G |
Mvk |
mevalonate kinase |
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ISO |
ClinVar Annotator: match by term: Mevalonic aciduria CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1377680 PMID:3158961 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 PMID:10896296 PMID:11111075 PMID:11313768 PMID:11313769 PMID:12387810 PMID:12444096 PMID:12477733 PMID:12563048 PMID:12634869 PMID:13130485 PMID:15149516 PMID:15188372 PMID:15536479 PMID:15657603 PMID:15804303 PMID:16197847 PMID:16199547 PMID:16234278 PMID:16255052 PMID:16435210 PMID:16707534 PMID:16835861 PMID:17105862 PMID:17171314 PMID:17576681 PMID:17596604 PMID:18008182 PMID:18414213 PMID:18839211 PMID:18941711 PMID:19011501 PMID:19036780 PMID:19120372 PMID:19786432 PMID:19877056 PMID:20194276 PMID:21225694 PMID:21228398 PMID:21399979 PMID:21425920 PMID:21478439 PMID:21548022 PMID:21630610 PMID:21708801 PMID:22038276 PMID:22246419 PMID:22271696 PMID:22566169 PMID:22983302 PMID:23006543 PMID:23146290 PMID:23692791 PMID:23707710 PMID:23834120 PMID:23979089 PMID:23998246 PMID:24033266 PMID:24073415 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24531851 PMID:24551296 PMID:24561416 PMID:24656624 PMID:24716072 PMID:25149390 PMID:25502423 PMID:25677409 PMID:25708585 PMID:25721923 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26202976 PMID:26299986 PMID:26386126 PMID:26409462 PMID:26420133 PMID:26620804 PMID:26633545 PMID:26935981 PMID:26977311 PMID:26986117 PMID:26990548 PMID:27012807 PMID:27142780 PMID:27213830 PMID:27377765 PMID:27387687 PMID:27612399 PMID:27899390 PMID:28095071 PMID:28359055 PMID:28492532 PMID:28501347 PMID:28638818 PMID:28814775 PMID:29047407 PMID:29290516 PMID:29451047 PMID:29599418 PMID:29624229 PMID:30030262 PMID:30148429 PMID:30597534 PMID:30609409 PMID:30783801 PMID:31028937 PMID:31096039 PMID:31278138 PMID:31325964 PMID:31430439 PMID:31474985 PMID:31589614 PMID:31664448 PMID:31964843 PMID:32060250 PMID:32199921 PMID:32252977 PMID:32312770 PMID:32441320 PMID:32822427 PMID:32888943 PMID:33042144 PMID:33072517 PMID:33168400 PMID:33505305 PMID:33917151 PMID:34054914 PMID:34145613 PMID:34426522 PMID:34525209 PMID:34573280 PMID:34751146 PMID:34809655 PMID:35387795 PMID:35418827 PMID:35525811 PMID:35720358 PMID:35753512 PMID:35916082 PMID:36242899 PMID:36636591 PMID:36703223 PMID:36730507 PMID:36788924 PMID:38983106 More...
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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 |
Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:7780142 |
RGD:9585642 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Ube3b |
ubiquitin protein ligase E3B |
|
ISO |
ClinVar Annotator: match by term: Mevalonic aciduria |
ClinVar |
PMID:28492532 |
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NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
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G |
Acox1 |
acyl-CoA oxidase 1 |
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ISO |
ClinVar Annotator: match by term: Mitchell syndrome |
OMIM ClinVar |
PMID:8040306 PMID:16199547 PMID:17458872 PMID:25741868 PMID:28492532 PMID:32169171 PMID:37400800 More...
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NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
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G |
Acox1 |
acyl-CoA oxidase 1 |
|
ISO ISS |
ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: ACOX1-related disorder | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy OMIM:264470 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 PMID:16199547 PMID:16773508 PMID:17458872 PMID:17576681 PMID:18536048 PMID:20185470 PMID:24033266 PMID:25326637 PMID:25640679 PMID:25741868 PMID:26965209 PMID:28492532 PMID:30561787 PMID:31130284 PMID:32169171 PMID:33510602 PMID:37400800 More...
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NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
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G |
Fbf1 |
Fas binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:101,375,769...101,401,624
Ensembl chr10:101,375,775...101,401,644
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G |
Galk1 |
galactokinase 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337
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G |
H3f3b |
H3.3 histone B |
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ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:101,256,484...101,258,716
Ensembl chr10:101,256,480...101,258,709 Ensembl chr13:101,256,480...101,258,709
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G |
Itgb4 |
integrin subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
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G |
Mrpl38 |
mitochondrial ribosomal protein L38 |
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ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:101,365,353...101,372,159
Ensembl chr10:101,365,353...101,372,171
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G |
Ten1 |
TEN1 subunit of CST complex |
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ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency |
ClinVar |
PMID:8040306 PMID:17458872 PMID:25741868 PMID:28492532 |
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NCBI chr10:101,431,328...101,455,105
Ensembl chr10:101,431,328...101,453,052
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G |
Trim47 |
tripartite motif-containing 47 |
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ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:101,337,573...101,342,044
Ensembl chr10:101,337,573...101,342,044
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G |
Trim65 |
tripartite motif-containing 65 |
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ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:101,357,937...101,364,036
Ensembl chr10:101,357,937...101,364,971
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G |
Unc13d |
unc-13 homolog D |
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ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:101,296,755...101,311,513
Ensembl chr10:101,296,776...101,311,687
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G |
Unk |
unk zinc finger |
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ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:101,265,732...101,295,950
Ensembl chr10:101,265,703...101,295,967
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G |
Wbp2 |
WW domain binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:101,312,476...101,320,775
Ensembl chr10:101,312,446...101,320,736
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9398847 PMID:9398848 PMID:9539740 |
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NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9683594 PMID:9700193 PMID:10862081 |
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NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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G |
Pex12 |
peroxisomal biogenesis factor 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9090384 |
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NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428
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G |
Pex13 |
peroxisomal biogenesis factor 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10332040 PMID:10441568 PMID:19449432 |
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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 |
Pex14 |
peroxisomal biogenesis factor 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15146459 PMID:18285423 PMID:20647552 |
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NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272
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G |
Pex16 |
peroxisomal biogenesis factor 16 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11890679 PMID:12223482 |
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NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
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G |
Pex19 |
peroxisomal biogenesis factor 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20683989 |
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NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608
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G |
Pex2 |
peroxisomal biogenesis factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1546315 PMID:10528859 |
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NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404
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G |
Pex26 |
peroxisomal biogenesis factor 26 |
|
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 |
Pex3 |
peroxisomal biogenesis factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10942428 |
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NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX5 defect |
ClinVar |
PMID:25741868 |
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NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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G |
Pex6 |
peroxisomal biogenesis factor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8940266 PMID:10408779 |
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NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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G |
Pex3 |
peroxisomal biogenesis factor 3 |
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ISO |
ClinVar Annotator: match by term: PEX3-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10A (Zellweger) |
OMIM ClinVar |
PMID:7562283 PMID:9536098 PMID:10942428 PMID:10958759 PMID:10968777 PMID:16199547 PMID:17576681 PMID:21031596 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
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G |
Pex3 |
peroxisomal biogenesis factor 3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10B |
OMIM ClinVar |
PMID:25741868 PMID:27557811 PMID:28492532 |
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NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
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G |
C14h2orf74 |
similar to human chromosome 2 open reading frame 74 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) |
ClinVar |
PMID:28492532 |
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NCBI chr14:97,493,579...97,496,697
Ensembl chr14:97,493,658...97,496,679
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G |
Fam161a |
FAM161 centrosomal protein A |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) |
ClinVar |
PMID:28492532 |
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NCBI chr14:97,009,449...97,027,865
Ensembl chr14:97,009,491...97,028,588
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G |
Pex13 |
peroxisomal biogenesis factor 13 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) |
OMIM ClinVar |
PMID:9480815 PMID:9536098 PMID:10332040 PMID:10441568 PMID:16006427 PMID:16199547 PMID:17041890 PMID:17576681 PMID:19449432 PMID:21031596 PMID:23716570 PMID:25741868 PMID:27827795 PMID:28492532 PMID:33190326 PMID:34055681 PMID:35854306 PMID:37962062 More...
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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 |
Pus10 |
pseudouridine synthase 10 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) |
ClinVar |
PMID:9536098 PMID:10332040 PMID:16199547 PMID:17576681 PMID:19449432 PMID:21031596 PMID:25741868 PMID:28492532 PMID:34055681 More...
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NCBI chr14:97,621,228...97,684,059
Ensembl chr14:97,621,391...97,684,046
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G |
Sanbr |
SANT and BTB domain regulator of CSR |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) |
ClinVar |
PMID:19449432 PMID:28492532 |
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NCBI chr14:97,516,652...97,585,955
Ensembl chr14:97,516,413...97,581,346
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G |
Usp34 |
ubiquitin specific peptidase 34 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) |
ClinVar |
PMID:28492532 |
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NCBI chr14:97,285,799...97,476,376
Ensembl chr14:97,286,018...97,476,376
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G |
Xpo1 |
exportin 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) |
ClinVar |
PMID:28492532 |
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NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498
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G |
Pex13 |
peroxisomal biogenesis factor 13 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11B |
OMIM ClinVar |
PMID:9480815 PMID:10332040 PMID:10441568 PMID:16006427 PMID:17041890 PMID:21031596 PMID:25741868 PMID:27827795 PMID:28492532 PMID:33190326 PMID:35854306 PMID:37962062 More...
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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 |
Pus10 |
pseudouridine synthase 10 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11B |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:97,621,228...97,684,059
Ensembl chr14:97,621,391...97,684,046
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G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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G |
Atp1a4 |
ATPase Na+/K+ transporting subunit alpha 4 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687
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G |
Casq1 |
calsequestrin 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339
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G |
Copa |
COPI coat complex subunit alpha |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874
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G |
Dcaf8 |
DDB1 and CUL4 associated factor 8 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,609,838...84,667,025
Ensembl chr13:84,610,248...84,669,726
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G |
Ncstn |
nicastrin |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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G |
Pea15 |
proliferation and apoptosis adaptor protein 15 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) |
ClinVar |
PMID:28492532 |
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NCBI chr13:84,657,815...84,667,437
Ensembl chr13:84,654,870...84,667,499
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G |
Pex19 |
peroxisomal biogenesis factor 19 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) |
OMIM ClinVar |
PMID:9536098 PMID:10051604 PMID:16199547 PMID:17576681 PMID:20683989 PMID:21031596 PMID:25741868 PMID:28281558 PMID:28492532 PMID:30561787 PMID:33798445 More...
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NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608
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G |
Pex14 |
peroxisomal biogenesis factor 14 |
|
ISO |
ClinVar Annotator: match by term: PEX14-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 13A (Zellweger) |
OMIM ClinVar |
PMID:15146459 PMID:18285423 PMID:25741868 PMID:28492532 |
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NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272
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G |
Pex11b |
peroxisomal biogenesis factor 11 beta |
|
ISO |
ClinVar Annotator: match by term: PEX11B-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 14B |
OMIM ClinVar |
PMID:10704444 PMID:20826455 PMID:22581968 PMID:25741868 PMID:28129423 PMID:28492532 PMID:31724321 More...
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NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495
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G |
Gatad1 |
GATA zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a |
ClinVar |
PMID:9398847 PMID:9398848 PMID:9536098 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:25326635 PMID:25525159 PMID:25741868 PMID:26319495 PMID:26387595 PMID:26467025 PMID:27124789 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:28446956 PMID:28492532 PMID:29261186 PMID:29419819 PMID:30561787 PMID:30733538 PMID:30755224 PMID:31374812 PMID:31831025 PMID:31964843 PMID:32203225 PMID:32483926 PMID:33083013 PMID:33708531 PMID:33955040 PMID:33955814 PMID:34513757 PMID:36046390 PMID:37385119 More...
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NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
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G |
Paf1 |
PAF1 homolog, Paf1/RNA polymerase II complex component |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
PMID:25741868 |
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NCBI chr 1:83,683,654...83,689,233
Ensembl chr 1:83,668,813...83,689,237
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a |
OMIM ClinVar |
PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 PMID:9398848 PMID:9536098 PMID:9539740 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:11439091 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:19877282 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:21862673 PMID:22871920 PMID:23247051 PMID:23757202 PMID:24033266 PMID:24503136 PMID:25133751 PMID:25182519 PMID:25326635 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26319495 PMID:26387595 PMID:26467025 PMID:26594346 PMID:26643206 PMID:27090541 PMID:27124789 PMID:27231023 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:27872819 PMID:27882258 PMID:28432012 PMID:28446956 PMID:28454995 PMID:28468868 PMID:28492532 PMID:28559085 PMID:29261186 PMID:29377746 PMID:29419819 PMID:29588463 PMID:29907799 PMID:30362618 PMID:30561787 PMID:30577886 PMID:30733538 PMID:30755224 PMID:31150129 PMID:31216405 PMID:31319225 PMID:31374812 PMID:31589614 PMID:31664448 PMID:31742715 PMID:31831025 PMID:31884617 PMID:31964843 PMID:31980526 PMID:32056211 PMID:32203225 PMID:32214227 PMID:32483926 PMID:32596134 PMID:32866347 PMID:32959227 PMID:33083013 PMID:33708531 PMID:33749171 PMID:33955040 PMID:33955814 PMID:34426522 PMID:34513757 PMID:34744965 PMID:34758253 PMID:35586607 PMID:36046390 PMID:36631813 PMID:37385119 More...
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NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
|
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NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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G |
Pex12 |
peroxisomal biogenesis factor 12 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
PMID:28492532 |
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NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428
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G |
Pex13 |
peroxisomal biogenesis factor 13 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
|
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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 |
Pex14 |
peroxisomal biogenesis factor 14 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
|
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NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272
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G |
Pex16 |
peroxisomal biogenesis factor 16 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
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G |
Pex19 |
peroxisomal biogenesis factor 19 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608
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G |
Pex2 |
peroxisomal biogenesis factor 2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404
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G |
Pex26 |
peroxisomal biogenesis factor 26 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
PMID:16257970 PMID:25741868 PMID:28492532 |
|
NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
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G |
Pex3 |
peroxisomal biogenesis factor 3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
PMID:7562283 PMID:10958759 PMID:10968777 PMID:25741868 |
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NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 |
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NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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G |
Pex6 |
peroxisomal biogenesis factor 6 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a |
ClinVar |
PMID:10408779 PMID:19877282 PMID:25525159 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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G |
Pus10 |
pseudouridine synthase 10 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
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NCBI chr14:97,621,228...97,684,059
Ensembl chr14:97,621,391...97,684,046
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G |
Rbm48 |
RNA binding motif protein 48 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:30,559,063...30,569,409
Ensembl chr 4:30,559,087...30,569,406
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G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
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NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
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G |
Samd4b |
sterile alpha motif domain containing 4B |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
PMID:25741868 |
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NCBI chr 1:83,689,413...83,728,652
Ensembl chr 1:83,689,413...83,713,853
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G |
Gatad1 |
GATA zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B |
ClinVar |
PMID:9398847 PMID:9398848 PMID:9536098 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:25525159 PMID:25741868 PMID:26319495 PMID:26387595 PMID:26467025 PMID:27124789 PMID:27302843 PMID:27353947 PMID:27848944 PMID:28446956 PMID:28492532 PMID:29419819 PMID:30561787 PMID:30733538 PMID:31374812 PMID:31831025 PMID:32203225 PMID:32483926 PMID:33708531 PMID:33955040 PMID:33955814 PMID:34513757 PMID:36046390 PMID:37385119 More...
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NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B |
OMIM ClinVar |
PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 PMID:9536098 PMID:9539740 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:11439091 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:19877282 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:21862673 PMID:22871920 PMID:23247051 PMID:23757202 PMID:24033266 PMID:24503136 PMID:25133751 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26319495 PMID:26387595 PMID:26467025 PMID:26643206 PMID:27090541 PMID:27124789 PMID:27302843 PMID:27353947 PMID:27848944 PMID:27872819 PMID:27882258 PMID:28446956 PMID:28468868 PMID:28492532 PMID:28559085 PMID:29377746 PMID:29419819 PMID:29588463 PMID:29907799 PMID:30362618 PMID:30561787 PMID:30577886 PMID:30733538 PMID:31150129 PMID:31216405 PMID:31319225 PMID:31374812 PMID:31589614 PMID:31664448 PMID:31742715 PMID:31831025 PMID:31884617 PMID:31964843 PMID:31980526 PMID:32056211 PMID:32203225 PMID:32214227 PMID:32483926 PMID:32866347 PMID:32959227 PMID:33708531 PMID:33749171 PMID:33955040 PMID:33955814 PMID:34426522 PMID:34513757 PMID:34744965 PMID:34758253 PMID:35586607 PMID:36046390 PMID:36631813 PMID:37385119 More...
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NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2A (Zellweger) |
OMIM ClinVar |
PMID:7719337 PMID:9536098 PMID:17576681 PMID:18712838 PMID:21031596 PMID:25741868 PMID:26344566 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 More...
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NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:25741868 |
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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 |
Acrbp |
acrosin binding protein |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
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G |
Acsm4 |
acyl-CoA synthetase medium-chain family member 4 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341
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G |
Aicda |
activation-induced cytidine deaminase |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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G |
Apobec1 |
apolipoprotein B mRNA editing enzyme catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
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G |
Atn1 |
atrophin 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
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G |
C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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G |
C1rl |
complement C1r subcomponent like |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134
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G |
C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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G |
C3ar1 |
complement C3a receptor 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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G |
Cd163 |
CD163 molecule |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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G |
Cd27 |
CD27 molecule |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
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G |
Cd4 |
Cd4 molecule |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,668,878...157,695,366
Ensembl chr 4:157,668,878...157,695,191
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G |
Cdca3 |
cell division cycle associated 3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
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G |
Chd4 |
chromodomain helicase DNA binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
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G |
Clec4a1 |
C-type lectin domain family 4, member A1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008
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G |
Clec4a3 |
C-type lectin domain family 4, member A3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817
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G |
Clec4b2 |
C-type lectin domain family 4, member B2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240
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G |
Clec4d |
C-type lectin domain family 4, member D |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:156,589,591...156,599,279
Ensembl chr 4:156,589,792...156,598,848
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G |
Clec4e |
C-type lectin domain family 4, member E |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767
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G |
Clec6a-ps1 |
C-type lectin domain family 6, member A, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605 Ensembl chr 4:156,539,408...156,558,605
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G |
Clstn3 |
calsyntenin 3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769
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G |
Cops7a |
COP9 signalosome subunit 7A |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948
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G |
Dppa3 |
developmental pluripotency-associated 3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861 Ensembl chr 5:155,815,296...155,854,861
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G |
Emg1 |
EMG1 N1-specific pseudouridine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
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G |
Eno2 |
enolase 2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
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G |
Fam90a1a |
family with sequence similarity 90 member A1A |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr16:70,098,439...70,106,147
Ensembl chr16:70,098,740...70,101,241
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G |
Foxj2 |
forkhead box J2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518
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G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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G |
Gdf3 |
growth differentiation factor 3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
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G |
Gnb3 |
G protein subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
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G |
Gpr162 |
G protein-coupled receptor 162 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,662,200...157,668,341
Ensembl chr 4:157,662,200...157,668,121
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G |
Grcc10 |
gene rich cluster, C10 gene |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:157,551,276...157,552,924
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G |
Iffo1 |
intermediate filament family orphan 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302
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G |
Ing4 |
inhibitor of growth family, member 4 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265
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G |
Lag3 |
lymphocyte activating 3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404
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G |
Lpar5 |
lysophosphatidic acid receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,870,493...157,883,979
Ensembl chr 4:157,881,796...157,882,950
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G |
Lpcat3 |
lysophosphatidylcholine acyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880
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G |
Lrrc23 |
leucine rich repeat containing 23 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860
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G |
Ltbr |
lymphotoxin beta receptor |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
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G |
Mfap5 |
microfibril associated protein 5 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458
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G |
Mir141 |
microRNA 141 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
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G |
Mir200c |
microRNA 200c |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:157,523,679...157,523,747
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G |
Mlf2 |
myeloid leukemia factor 2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,739,651...157,744,325
Ensembl chr 4:157,728,756...157,744,317
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G |
Mrpl51 |
mitochondrial ribosomal protein L51 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,991,756...157,994,715
Ensembl chr 4:157,992,408...157,995,414
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G |
Nanog |
Nanog homeobox |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116
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G |
Ncapd2 |
non-SMC condensin I complex, subunit D2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020
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G |
Necap1 |
NECAP endocytosis associated 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:156,103,935...156,119,068
Ensembl chr 4:156,103,988...156,119,068
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G |
Nop2 |
NOP2 nucleolar protein |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,932,731...157,944,462
Ensembl chr 4:157,932,716...157,944,459
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G |
P3h3 |
prolyl 3-hydroxylase 3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:157,646,243...157,662,035
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Pex5 |
peroxisomal biogenesis factor 5 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
OMIM ClinVar |
PMID:7719337 PMID:9536098 PMID:10462504 PMID:16199547 PMID:17532062 PMID:17576681 PMID:18712838 PMID:20681997 PMID:21031596 PMID:24399846 PMID:25741868 PMID:26220973 PMID:26344566 PMID:27290639 PMID:28492532 PMID:30561787 PMID:30626896 PMID:32901917 PMID:33389129 PMID:33584783 PMID:34645488 PMID:35346031 More...
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NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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Phb2 |
prohibitin 2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272
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Pianp |
PILR alpha associated neural protein |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,796,425...157,804,842
Ensembl chr 4:157,798,808...157,804,842
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Ptms |
parathymosin |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,722,384...157,726,575
Ensembl chr 4:157,722,386...157,727,009
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Ptpn6 |
protein tyrosine phosphatase, non-receptor type 6 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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Rimklb |
ribosomal modification protein rimK-like family member B |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:155,664,392...155,706,888
Ensembl chr 4:155,664,375...155,706,711
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Scnn1a |
sodium channel epithelial 1 subunit alpha |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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Slc2a3 |
solute carrier family 2 member 3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
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NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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Spsb2 |
splA/ryanodine receptor domain and SOCS box containing 2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,613,404...157,615,293
Ensembl chr 4:157,613,401...157,615,284
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Tapbpl |
TAP binding protein-like |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,021,454...158,028,905
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Tnfrsf1a |
TNF receptor superfamily member 1A |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tpi1 |
triosephosphate isomerase 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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Usp5 |
ubiquitin specific peptidase 5 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,619,663...157,634,681
Ensembl chr 4:157,619,643...157,634,711
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Vamp1 |
vesicle-associated membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349
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Zfp384 |
zinc finger protein 384 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,810,263...157,840,052
Ensembl chr 4:157,810,352...157,839,766
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Ap2b1 |
adaptor related protein complex 2 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) |
ClinVar |
PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 |
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NCBI chr10:68,099,397...68,205,023
Ensembl chr10:68,099,547...68,205,013
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Fndc8 |
fibronectin type III domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) |
ClinVar |
PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 |
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NCBI chr10:67,825,952...67,834,090
Ensembl chr10:67,825,952...67,834,090
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Gas2l2 |
growth arrest-specific 2 like 2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) |
ClinVar |
PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 |
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NCBI chr10:68,222,475...68,229,877
Ensembl chr10:68,222,475...68,229,881
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Nle1 |
notchless homolog 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) |
ClinVar |
PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 |
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NCBI chr10:67,834,059...67,844,771
Ensembl chr10:67,834,062...67,842,658
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Pex12 |
peroxisomal biogenesis factor 12 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) |
OMIM ClinVar |
PMID:9090384 PMID:9354782 PMID:9536098 PMID:9632816 PMID:9792857 PMID:10527683 PMID:10562279 PMID:10837480 PMID:11370741 PMID:12032265 PMID:14571262 PMID:14630978 PMID:15184617 PMID:15241794 PMID:15542397 PMID:16199547 PMID:17534573 PMID:17576681 PMID:19105186 PMID:19127411 PMID:19877282 PMID:21031596 PMID:21465523 PMID:22471590 PMID:24033266 PMID:24627108 PMID:25287621 PMID:25326635 PMID:25741868 PMID:26094004 PMID:26643206 PMID:27124789 PMID:27763634 PMID:28492532 PMID:29389947 PMID:33123925 More...
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NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428
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Rad51d |
RAD51 paralog D |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) |
ClinVar |
PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 |
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NCBI chr10:67,805,720...67,824,452
Ensembl chr10:67,740,712...67,824,434
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Rasl10b |
RAS-like, family 10, member B |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) |
ClinVar |
PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 |
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NCBI chr10:68,209,761...68,222,118
Ensembl chr10:68,210,275...68,220,376
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Slfn14 |
schlafen family member 14 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) |
ClinVar |
PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 |
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NCBI chr10:68,076,326...68,087,794
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Slfn2 |
schlafen family member 2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) |
ClinVar |
PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 |
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NCBI chr10:67,953,322...67,959,659
Ensembl chr10:67,953,171...67,959,458
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Slfn4 |
schlafen family member 4 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) |
ClinVar |
PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 |
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NCBI chr10:67,994,601...68,018,141
Ensembl chr10:68,000,028...68,018,138 Ensembl chr10:68,000,028...68,018,138
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Slfn5 |
schlafen family member 5 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) |
ClinVar |
PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 |
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NCBI chr10:67,881,068...67,895,013
Ensembl chr10:67,880,009...67,893,109
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Slfn9 |
schlafen family member 9 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) |
ClinVar |
PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 |
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NCBI chr10:67,909,105...67,955,912
Ensembl chr10:67,909,106...67,925,383
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Unc45b |
unc-45 myosin chaperone B |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) |
ClinVar |
PMID:9090384 PMID:9632816 PMID:21031596 PMID:28492532 |
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NCBI chr10:67,845,464...67,873,143
Ensembl chr10:67,845,462...67,873,389
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Pex12 |
peroxisomal biogenesis factor 12 |
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ISO |
ClinVar Annotator: match by term: Peroxisomal biogenesis disorder 3b | ClinVar Annotator: match by term: Peroxisome biogenesis disorder type 3B |
OMIM ClinVar |
PMID:2122101 PMID:9090384 PMID:9536098 PMID:9632816 PMID:9792857 PMID:10527683 PMID:10562279 PMID:10837480 PMID:11370741 PMID:12032265 PMID:14571262 PMID:14630978 PMID:15184617 PMID:15241794 PMID:15542397 PMID:16199547 PMID:17534573 PMID:17576681 PMID:19105186 PMID:19127411 PMID:19877282 PMID:21031596 PMID:21465523 PMID:22471590 PMID:24033266 PMID:24627108 PMID:25287621 PMID:25326635 PMID:25741868 PMID:26094004 PMID:26643206 PMID:27124789 PMID:27763634 PMID:28492532 PMID:29389947 PMID:33123925 More...
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NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428
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Pfkm |
phosphofructokinase, muscle |
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ISO |
ClinVar Annotator: match by term: Peroxisomal biogenesis disorder 3b |
ClinVar |
PMID:9792857 |
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NCBI chr 7:129,221,679...129,259,192
Ensembl chr 7:129,221,653...129,259,192
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Pex6 |
peroxisomal biogenesis factor 6 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger) |
OMIM ClinVar |
PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 PMID:11004248 PMID:11355018 PMID:11873320 PMID:15542397 PMID:15858711 PMID:16199547 PMID:16530715 PMID:17190851 PMID:17576681 PMID:19105186 PMID:19142205 PMID:19877282 PMID:20301621 PMID:21031596 PMID:22871920 PMID:22894767 PMID:23757202 PMID:24016303 PMID:24459294 PMID:25079577 PMID:25079599 PMID:25525159 PMID:25741868 PMID:26094004 PMID:26275793 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26593283 PMID:26669662 PMID:26700162 PMID:26943801 PMID:27007981 PMID:27302843 PMID:27604308 PMID:27779215 PMID:27848944 PMID:28492532 PMID:29220678 PMID:29419819 PMID:29676688 PMID:30476936 PMID:30793331 PMID:31216405 PMID:31374812 PMID:31555682 PMID:31831025 PMID:31884617 PMID:31980526 PMID:32399598 PMID:33003980 PMID:33776059 PMID:34055681 PMID:34234304 PMID:34448047 PMID:34662339 PMID:36649687 PMID:36785559 PMID:37144748 More...
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NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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Pex6 |
peroxisomal biogenesis factor 6 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4B |
OMIM ClinVar |
PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 PMID:11355018 PMID:11873320 PMID:15542397 PMID:15858711 PMID:16199547 PMID:16530715 PMID:17576681 PMID:19105186 PMID:19142205 PMID:19877282 PMID:21031596 PMID:21937992 PMID:22871920 PMID:22894767 PMID:23757202 PMID:24016303 PMID:24459294 PMID:25079577 PMID:25079599 PMID:25525159 PMID:25741868 PMID:26275793 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26593283 PMID:26669662 PMID:26700162 PMID:26943801 PMID:27007981 PMID:27302843 PMID:27604308 PMID:27779215 PMID:27848944 PMID:28492532 PMID:29220678 PMID:29676688 PMID:30476936 PMID:31216405 PMID:31374812 PMID:31555682 PMID:31831025 PMID:31884617 PMID:31980526 PMID:32399598 PMID:33003980 PMID:33776059 PMID:34055681 PMID:34234304 PMID:34448047 PMID:34662339 PMID:36785559 PMID:37144748 More...
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NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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Pex2 |
peroxisomal biogenesis factor 2 |
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ISO |
ClinVar Annotator: match by term: PEX2-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5A (Zellweger) |
OMIM ClinVar |
PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 PMID:10528859 PMID:10652207 PMID:14630978 PMID:15542397 PMID:17041890 PMID:21031596 PMID:21465523 PMID:23430938 PMID:23590336 PMID:23829372 PMID:25333069 PMID:25741868 PMID:28089346 PMID:28492532 PMID:32860008 More...
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NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404
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Pex2 |
peroxisomal biogenesis factor 2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5B |
OMIM ClinVar |
PMID:1546315 PMID:7541833 PMID:7681622 PMID:7931872 PMID:9452066 PMID:9585609 PMID:10528859 PMID:10652207 PMID:10960480 PMID:14630978 PMID:15542397 PMID:17041890 PMID:21031596 PMID:21392394 PMID:21465523 PMID:23430938 PMID:23590336 PMID:23829372 PMID:25333069 PMID:25741868 PMID:28089346 PMID:28492532 More...
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NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404
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Pex10 |
peroxisomal biogenesis factor 10 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger) |
OMIM ClinVar |
PMID:7565793 PMID:8982949 PMID:9536098 PMID:9683594 PMID:9700193 PMID:10527683 PMID:10862081 PMID:12794690 PMID:15542397 PMID:16199547 PMID:17041890 PMID:17576681 PMID:17702006 PMID:19105186 PMID:19127411 PMID:19142205 PMID:20301621 PMID:20695019 PMID:21031596 PMID:21465523 PMID:24033266 PMID:25179809 PMID:25525159 PMID:25741868 PMID:26319495 PMID:27230853 PMID:28320181 PMID:28492532 PMID:30640048 More...
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NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger) |
ClinVar |
PMID:25741868 |
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NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
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Pex10 |
peroxisomal biogenesis factor 10 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6B |
OMIM ClinVar |
PMID:8982949 PMID:9683594 PMID:9700193 PMID:10527683 PMID:10862081 PMID:12794690 PMID:15542397 PMID:17041890 PMID:17702006 PMID:18644345 PMID:19105186 PMID:19127411 PMID:19142205 PMID:20301621 PMID:20695019 PMID:21031596 PMID:21465523 PMID:25179809 PMID:25525159 PMID:25741868 PMID:26319495 PMID:27230853 PMID:28320181 PMID:28492532 PMID:30640048 More...
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NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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Mical3 |
microtubule associated monooxygenase, calponin and LIM domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) |
ClinVar |
PMID:28492532 |
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NCBI chr 4:154,152,776...154,353,274
Ensembl chr 4:154,153,834...154,302,590
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Pex26 |
peroxisomal biogenesis factor 26 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) |
OMIM ClinVar |
PMID:9090381 PMID:9536098 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 PMID:16199547 PMID:16257970 PMID:17336976 PMID:17576681 PMID:19105186 PMID:19877282 PMID:21031596 PMID:25016021 PMID:25640679 PMID:25741868 PMID:26287655 PMID:26627908 PMID:27392320 PMID:28492532 PMID:28823628 PMID:28944237 PMID:29947050 PMID:30366024 PMID:30446579 PMID:32140910 PMID:32552793 More...
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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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Tuba8 |
tubulin, alpha 8 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) |
ClinVar |
PMID:12851857 PMID:21031596 PMID:28492532 |
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NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
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Pex26 |
peroxisomal biogenesis factor 26 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7B |
OMIM ClinVar |
PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 PMID:16199547 PMID:16257970 PMID:19105186 PMID:19877282 PMID:21031596 PMID:25016021 PMID:25741868 PMID:26287655 PMID:26627908 PMID:27392320 PMID:28492532 PMID:28944237 PMID:29947050 PMID:30366024 PMID:30446579 More...
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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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Mmut |
methylmalonyl-CoA mutase |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger) |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046
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Pex16 |
peroxisomal biogenesis factor 16 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX16 defect |
OMIM ClinVar |
PMID:9536098 PMID:9837814 PMID:11890679 PMID:17576681 PMID:20647552 PMID:20681997 PMID:24091540 PMID:25287621 PMID:25326635 PMID:25741868 PMID:27391121 PMID:28492532 PMID:30078639 PMID:31227335 More...
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NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
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Pex16 |
peroxisomal biogenesis factor 16 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8B |
OMIM ClinVar |
PMID:20647552 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26633545 PMID:27391121 PMID:28492532 PMID:30078639 PMID:31227335 More...
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NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
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Ahi1 |
Abelson helper integration site 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B |
ClinVar |
PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 |
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NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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G |
Bclaf1 |
BCL2-associated transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B |
ClinVar |
PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 |
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NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832
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G |
Ifngr1 |
interferon gamma receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B |
ClinVar |
PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 |
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NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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G |
Il20ra |
interleukin 20 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B |
ClinVar |
PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 |
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NCBI chr 1:14,424,215...14,494,226
Ensembl chr 1:14,451,228...14,493,602
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G |
Il22ra2 |
interleukin 22 receptor subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B |
ClinVar |
PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 |
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NCBI chr 1:14,353,736...14,377,844
Ensembl chr 1:14,364,489...14,377,844
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G |
Map3k5 |
mitogen-activated protein kinase kinase kinase 5 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B |
ClinVar |
PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 |
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NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800
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G |
Map7 |
microtubule-associated protein 7 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B |
ClinVar |
PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 |
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NCBI chr 1:14,910,433...15,037,574
Ensembl chr 1:14,910,551...15,037,574
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G |
Mtfr2 |
mitochondrial fission regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B |
ClinVar |
PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 |
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NCBI chr 1:15,123,232...15,138,632
Ensembl chr 1:15,070,894...15,148,832
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G |
Olig3 |
oligodendrocyte transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B |
ClinVar |
PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 |
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NCBI chr 1:14,081,259...14,083,336
Ensembl chr 1:14,081,328...14,082,149
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G |
Pde7b |
phosphodiesterase 7B |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B |
ClinVar |
PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 |
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NCBI chr 1:15,174,001...15,493,267
Ensembl chr 1:15,182,704...15,492,900
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G |
Pex7 |
peroxisomal biogenesis factor 7 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B |
OMIM ClinVar |
PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9472033 PMID:9536098 PMID:9686382 PMID:10083738 PMID:10527683 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12054588 PMID:12325024 PMID:12522768 PMID:14974078 PMID:16199547 PMID:17325280 PMID:17576681 PMID:20145307 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:22057399 PMID:23352163 PMID:23462609 PMID:23572185 PMID:24172221 PMID:25640679 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26408048 PMID:26467025 PMID:26587300 PMID:28492532 PMID:31964843 PMID:31980526 PMID:32483926 PMID:33337545 PMID:34229749 PMID:34529350 PMID:34671977 PMID:35055178 More...
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NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
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G |
Slc35d3 |
solute carrier family 35, member D3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B |
ClinVar |
PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 |
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NCBI chr 1:14,565,482...14,573,581
Ensembl chr 1:14,569,687...14,573,159
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G |
Tnfaip3 |
TNF alpha induced protein 3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B |
ClinVar |
PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 |
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NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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G |
Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481
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G |
Actrt2 |
actin-related protein T2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
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G |
Agrn |
agrin |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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G |
Ankrd65 |
ankyrin repeat domain 65 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
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G |
Arhgef16 |
Rho guanine nucleotide exchange factor 16 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
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G |
Atad3a |
ATPase family, AAA domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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G |
C1qtnf12 |
C1q and TNF related 12 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
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G |
C5h1orf159 |
similar to human chromosome 1 open reading frame 159 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
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G |
Ccdc27 |
coiled-coil domain containing 27 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
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G |
Ccnl2 |
cyclin L2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
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G |
Cdk11b |
cyclin-dependent kinase 11B |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
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G |
Cep104 |
centrosomal protein 104 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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G |
Cfap74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
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G |
Cptp |
ceramide-1-phosphate transfer protein |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
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G |
Dvl1 |
dishevelled segment polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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G |
Faap20 |
FA core complex associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
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G |
Fndc10 |
fibronectin type III domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
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G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
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G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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G |
Hes5 |
hes family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
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G |
Ints11 |
integrator complex subunit 11 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
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G |
Isg15 |
ISG15 ubiquitin-like modifier |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
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G |
Klhl17 |
kelch-like family member 17 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
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G |
Lrrc47 |
leucine rich repeat containing 47 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
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G |
Megf6 |
multiple EGF-like-domains 6 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
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G |
Mib2 |
MIB E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
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G |
Mir200a |
microRNA 200a |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,648,494...166,648,582
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G |
Mir200b |
microRNA 200b |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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G |
Mir429 |
microRNA 429 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
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G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
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G |
Mmp23 |
matrix metallopeptidase 23 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
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NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
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G |
Morn1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
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G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
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G |
Mxra8 |
matrix remodeling associated 8 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
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G |
Nadk |
NAD kinase |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
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NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
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G |
Noc2l |
NOC2-like nucleolar associated transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
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NCBI chr 5:166,820,150...166,831,949
Ensembl chr 5:166,820,161...166,831,949
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G |
Pank4 |
pantothenate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
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G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group B |
ClinVar |
PMID:2723085 PMID:7565793 PMID:9536098 PMID:9683594 PMID:9700193 PMID:10527683 PMID:10862081 PMID:12794690 PMID:15542397 PMID:16199547 PMID:17041890 PMID:17576681 PMID:17702006 PMID:18644345 PMID:19105186 PMID:19127411 PMID:19142205 PMID:19492091 PMID:20301621 PMID:20695019 PMID:21031596 PMID:21465523 PMID:24033266 PMID:25179809 PMID:25525159 PMID:25741868 PMID:26319495 PMID:26477546 PMID:27230853 PMID:28320181 PMID:28492532 PMID:30640048 PMID:31674007 PMID:34000440 More...
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NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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Plch2 |
phospholipase C, eta 2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
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Plekhn1 |
pleckstrin homology domain containing N1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155
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Prdm16 |
PR/SET domain 16 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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Prkcz |
protein kinase C, zeta |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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Prxl2b |
peroxiredoxin like 2B |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,462,610...165,465,213
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Pusl1 |
pseudouridine synthase like 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611
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Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
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Rnf223 |
ring finger protein 223 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,723,346...166,726,236
Ensembl chr 5:166,724,984...166,725,751
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Samd11 |
sterile alpha motif domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,831,681...166,859,805
Ensembl chr 5:166,831,663...166,850,009
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Sdf4 |
stromal cell derived factor 4 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
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Ski |
Ski proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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Slc35e2b |
solute carrier family 35, member E2B |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
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Smim1 |
small integral membrane protein 1 (Vel blood group) |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,579,327...164,584,650
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Ssu72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
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Tas1r3 |
taste 1 receptor member 3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742
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Tmem240 |
transmembrane protein 240 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
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Tmem52 |
transmembrane protein 52 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group B |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433
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Tmem88b |
transmembrane protein 88B |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
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Tnfrsf14 |
TNF receptor superfamily member 14 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
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Tnfrsf18 |
TNF receptor superfamily member 18 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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Tnfrsf4 |
TNF receptor superfamily member 4 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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Tp73 |
tumor protein p73 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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Tprg1l |
tumor protein p63 regulated 1-like |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
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Ttc34 |
tetratricopeptide repeat domain 34 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
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Ttll10 |
tubulin tyrosine ligase like 10 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
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Ube2j2 |
ubiquitin-conjugating enzyme E2, J2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
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Vwa1 |
von Willebrand factor A domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
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Wrap73 |
WD repeat containing, antisense to TP73 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
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C5h1orf127 |
similar to human chromosome 1 open reading frame 127 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
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Casz1 |
castor zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400
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