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G |
Bax |
BCL2 associated X, apoptosis regulator |
|
IEP |
associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal cortex |
RGD |
PMID:21161352 |
RGD:6482719 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcl2 |
BCL2, apoptosis regulator |
|
IEP |
associated with Pancreatitis, Acute Necrotizing;protein:decreased expression:adrenal cortex |
RGD |
PMID:21161352 |
RGD:6482719 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11502818 |
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NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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G |
Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10369247 |
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NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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G |
Pla2g2a |
phospholipase A2 group IIA |
|
IEP |
associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal gland |
RGD |
PMID:21161352 |
RGD:6482719 |
NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
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G |
Pomc |
proopiomelanocortin |
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ISO |
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RGD |
PMID:11874690 |
RGD:1357926 |
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Scnn1b |
sodium channel epithelial 1 subunit beta |
|
ISO |
Liddle syndrome, OMIM:177200;DNA:point mutation:exon:R564X |
RGD |
PMID:7954808 |
RGD:1624136 |
NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
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G |
Tbx19 |
T-box transcription factor 19 |
|
ISO |
ClinVar Annotator: match by term: Adrenal insufficiency |
ClinVar |
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NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: Primary adrenocortical insufficiency |
ClinVar |
PMID:7581394 PMID:7668254 PMID:8040304 PMID:8651290 PMID:8773611 PMID:10190819 PMID:11248239 PMID:11748843 PMID:12530690 PMID:12624723 PMID:14767898 PMID:15032602 PMID:15811009 PMID:16087056 PMID:17542813 PMID:17990484 PMID:21476988 PMID:21700483 PMID:21966424 PMID:22479560 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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G |
Ciita |
class II, major histocompatibility complex, transactivator |
|
ISO |
DNA:polymorphism:intron:rs8048002T>C (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18593762 PMID:18593762 |
RGD:5491177 |
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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G |
Clec16a |
C-type lectin domain containing 16A |
|
ISO |
DNA:polymorphism:intron:rs12917716C (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18593762 PMID:18593762 |
RGD:5491177 |
NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578
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G |
Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 |
|
ISO |
DNA: snp: cds: rs2476601 |
RGD |
PMID:18301444 |
RGD:6484549 |
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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G |
RT1-Bb |
RT1 class II, locus Bb |
|
ISO |
DNA:polymorphism (human) DNA:repeat (human) |
RGD |
PMID:20455895 PMID:12072047 |
RGD:5147608, RGD:5147829 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
ISO |
DNA:polymorphisms (human) DNA:polymorphism (human) |
RGD |
PMID:21816777 PMID:19858318 |
RGD:5147553, RGD:5147588 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Vdr |
vitamin D receptor |
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ISO |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
|
ISO |
ClinVar Annotator: match by term: ACTH deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
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ISO |
ClinVar Annotator: match by term: ACTH deficiency |
ClinVar |
PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 PMID:28492532 PMID:30576320 PMID:31273949 PMID:31630094 More...
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NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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G |
Tbx19 |
T-box transcription factor 19 |
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ISO ISS |
OMIM:201400 ClinVar Annotator: match by term: ACTH deficiency CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:2830787 PMID:9536098 PMID:11290323 PMID:12651888 PMID:15476446 PMID:15613420 PMID:16390921 PMID:17576681 PMID:17652218 PMID:22170728 PMID:25326635 PMID:25741868 PMID:28492532 PMID:33423260 More...
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NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy OMIM:300100 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 PMID:7581394 PMID:7668254 PMID:7677014 PMID:7717396 PMID:7811247 PMID:7825602 PMID:7849718 PMID:7849723 PMID:7860075 PMID:7876858 PMID:7894167 PMID:7904210 PMID:7998779 PMID:8040304 PMID:8048932 PMID:8353949 PMID:8441467 PMID:8535450 PMID:8535452 PMID:8566952 PMID:8621506 PMID:8651290 PMID:8773611 PMID:8888042 PMID:8889593 PMID:8892025 PMID:9051655 PMID:9088111 PMID:9195223 PMID:9212180 PMID:9242200 PMID:9384614 PMID:9425230 PMID:9452087 PMID:9536098 PMID:9551465 PMID:9553942 PMID:9556301 PMID:9584268 PMID:9712540 PMID:9846054 PMID:9894883 PMID:10190819 PMID:10227685 PMID:10369742 PMID:10480214 PMID:10480364 PMID:10551832 PMID:10737980 PMID:10815658 PMID:10980309 PMID:10980539 PMID:11063720 PMID:11102997 PMID:11220738 PMID:11248239 PMID:11310629 PMID:11330045 PMID:11336405 PMID:11379875 PMID:11438993 PMID:11739809 PMID:11748843 PMID:11798073 PMID:11810273 PMID:11968085 PMID:12175782 PMID:12402273 PMID:12530690 PMID:12624723 PMID:12913200 PMID:14533738 PMID:14586615 PMID:14713218 PMID:14767898 PMID:15032602 PMID:15192815 PMID:15284851 PMID:15333254 PMID:15388659 PMID:15564782 PMID:15643618 PMID:15800013 PMID:15811009 PMID:15812458 PMID:15878823 PMID:16018167 PMID:16023551 PMID:16087056 PMID:16199547 PMID:16319717 PMID:16401743 PMID:16415970 PMID:16427346 PMID:16601897 PMID:16672758 PMID:16684786 PMID:16949688 PMID:16996397 PMID:17029209 PMID:17202797 PMID:17285533 PMID:17372139 PMID:17498713 PMID:17504626 PMID:17542813 PMID:17576681 PMID:17602313 PMID:17990484 PMID:18177777 PMID:18306728 PMID:18627054 PMID:18973459 PMID:19129531 PMID:19234479 PMID:19325113 PMID:19396829 PMID:19496984 PMID:19592040 PMID:19660195 PMID:19846429 PMID:19892975 PMID:19963315 PMID:20008255 PMID:20195870 PMID:20228476 PMID:20301491 PMID:20376793 PMID:20455653 PMID:20626745 PMID:20661612 PMID:20730588 PMID:20800589 PMID:20849526 PMID:20859061 PMID:21068741 PMID:21264817 PMID:21300044 PMID:21476988 PMID:21478203 PMID:21488864 PMID:21586746 PMID:21700483 PMID:21889498 PMID:21907609 PMID:21966424 PMID:22045812 PMID:22057157 PMID:22120190 PMID:22176151 PMID:22189598 PMID:22198747 PMID:22280810 PMID:22281021 PMID:22366764 PMID:22382802 PMID:22479560 PMID:22483867 PMID:22687851 PMID:22914231 PMID:23009600 PMID:23154058 PMID:23300730 PMID:23409742 PMID:23419472 PMID:23430809 PMID:23469258 PMID:23566833 PMID:23566848 PMID:23651979 PMID:23660394 PMID:23664929 PMID:23671276 PMID:23712774 PMID:23768953 PMID:23835273 PMID:23864971 PMID:23926373 PMID:24154795 PMID:24365856 PMID:24480483 PMID:24685009 PMID:24719134 PMID:24722136 PMID:24768737 PMID:24788897 PMID:24962355 PMID:25118695 PMID:25275259 PMID:25324868 PMID:25741868 PMID:25835273 PMID:25835712 PMID:25999754 PMID:26227820 PMID:26260157 PMID:26266984 PMID:26388597 PMID:26454440 PMID:26467025 PMID:26471271 PMID:26523528 PMID:26607867 PMID:26609365 PMID:27067449 PMID:27084228 PMID:27248780 PMID:27489563 PMID:27766264 PMID:27779215 PMID:27928321 PMID:27934597 PMID:28086082 PMID:28089346 PMID:28216041 PMID:28456143 PMID:28481932 PMID:28492532 PMID:28503596 PMID:28601575 PMID:28708278 PMID:28953922 PMID:28991658 PMID:29056270 PMID:29284317 PMID:29334594 PMID:29443243 PMID:29557549 PMID:29950168 PMID:30069915 PMID:30293248 PMID:30544401 PMID:30564185 PMID:30658899 PMID:30787906 PMID:30902905 PMID:31069529 PMID:31074578 PMID:31104286 PMID:31227335 PMID:31316545 PMID:31452695 PMID:31526374 PMID:31557422 PMID:31777199 PMID:32003821 PMID:32047678 PMID:32101828 PMID:32207279 PMID:32307584 PMID:32403196 PMID:32632637 PMID:32671069 PMID:32954314 PMID:33151932 PMID:33247909 PMID:33359056 PMID:33547378 PMID:33920672 PMID:34008892 PMID:34012265 PMID:34302356 PMID:34826210 PMID:34946879 PMID:35053399 PMID:35076462 PMID:35196747 PMID:35384376 PMID:35466195 PMID:35479665 PMID:35535697 PMID:35645283 PMID:37081902 PMID:8048932 More...
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RGD:1598655 |
NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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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 |
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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:151,636,071...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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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 |
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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:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
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G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
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ISO |
ClinVar Annotator: match by term: 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 |
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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:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
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G |
Flna |
filamin A |
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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:152,007,758...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 steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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G |
Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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G |
Pdzd4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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G |
Pex13 |
peroxisomal biogenesis factor 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10441568 |
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NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
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G |
Pex26 |
peroxisomal biogenesis factor 26 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12851857 |
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NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
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G |
Plxna3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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G |
Plxnb3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
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G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
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G |
Pnma3 |
PNMA family member 3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839
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G |
Pnma5 |
PNMA family member 5 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789
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G |
Pnma6e |
PNMA family member 6E |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037
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G |
Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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G |
Rpl10 |
ribosomal protein L10 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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G |
Slc10a3 |
solute carrier family 10, member 3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
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G |
Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Srpk3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
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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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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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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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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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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 |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 PMID:17576681 PMID:18182448 PMID:19116240 PMID:21159840 PMID:21880796 PMID:23337730 PMID:24033266 PMID:25741868 PMID:26300845 PMID:28492532 PMID:29178636 PMID:30233493 PMID:30299480 PMID:30620006 PMID:31289154 PMID:34281122 More...
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NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Cyp11b3 |
cytochrome P450, family 11, subfamily b, polypeptide 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 18 alpha hydroxylase deficiency | ClinVar Annotator: match by term: Corticosterone 18-monooxygenase deficiency | ClinVar Annotator: match by term: Corticosterone methyloxidase type 1 deficiency | ClinVar Annotator: match by term: Early-onset familial hypoaldosteronism | ClinVar Annotator: match by term: Familial hypoaldosteronism | ClinVar Annotator: match by term: STEROID 18-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: STEROID 18-OXIDASE DEFICIENCY |
CTD OMIM ClinVar |
PMID:1346492 PMID:1594605 PMID:2044581 PMID:7485152 PMID:7792802 PMID:8530633 PMID:8954040 PMID:9177280 PMID:9360501 PMID:9536098 PMID:9625333 PMID:9703385 PMID:9814506 PMID:10965212 PMID:11174838 PMID:11196457 PMID:11238478 PMID:11549691 PMID:12788848 PMID:14250395 PMID:15240589 PMID:16118341 PMID:16199547 PMID:16733366 PMID:17576681 PMID:18710464 PMID:19116236 PMID:20494601 PMID:20639134 PMID:21237269 PMID:22465514 PMID:22565077 PMID:22801770 PMID:22931312 PMID:24033266 PMID:25102047 PMID:25741868 PMID:25968592 PMID:26936515 PMID:26956189 PMID:28492532 PMID:29201470 PMID:30864636 PMID:33098647 PMID:34243750 More...
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NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
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G |
Cyp11b3 |
cytochrome P450, family 11, subfamily b, polypeptide 3 |
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ISO |
ClinVar Annotator: match by term: CMO II DEFICIENCY | ClinVar Annotator: match by term: CYP11B2-related disorder |
ClinVar OMIM |
PMID:1594605 PMID:2044581 PMID:8530633 PMID:8954040 PMID:9360501 PMID:9536098 PMID:9625333 PMID:9703385 PMID:9814506 PMID:10965212 PMID:11174838 PMID:11196457 PMID:11549691 PMID:12788848 PMID:14250395 PMID:15240589 PMID:16118341 PMID:17576681 PMID:18710464 PMID:19116236 PMID:20494601 PMID:21237269 PMID:22465514 PMID:22565077 PMID:22801770 PMID:22931312 PMID:24033266 PMID:25102047 PMID:25741868 PMID:25968592 PMID:26936515 PMID:26956189 PMID:27125267 PMID:28492532 PMID:29201470 PMID:29582446 PMID:33098647 More...
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NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
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G |
Mc2r |
melanocortin 2 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ACTH resistance | ClinVar Annotator: match by term: Glucocorticoid deficiency 1 |
OMIM CTD ClinVar |
PMID:7829641 PMID:8069303 PMID:8094489 PMID:8227361 PMID:8250922 PMID:8636348 PMID:9758716 PMID:10443676 PMID:12213892 PMID:14960026 PMID:16271481 PMID:17128565 PMID:17223989 PMID:18059087 PMID:18407210 PMID:18492762 PMID:18504396 PMID:18840636 PMID:19170705 PMID:19558534 PMID:21932602 PMID:25741868 PMID:26650942 PMID:28492532 PMID:34258490 More...
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NCBI chr18:62,001,980...62,015,567
Ensembl chr18:62,004,948...62,015,488
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G |
Mrap |
melanocortin 2 receptor accessory protein |
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ISO |
ClinVar Annotator: match by term: Glucocorticoid deficiency 1 |
ClinVar |
PMID:15654338 PMID:24033266 PMID:25741868 |
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NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024
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G |
Nnt |
nicotinamide nucleotide transhydrogenase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22634753 |
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NCBI chr 2:51,411,413...51,505,125
Ensembl chr 2:51,411,413...51,504,823
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G |
Mrap |
melanocortin 2 receptor accessory protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glucocorticoid deficiency 2 | ClinVar Annotator: match by term: MRAP-related condition |
OMIM CTD ClinVar |
PMID:15654338 PMID:16868047 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024
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G |
Urb1 |
URB1 ribosome biogenesis homolog |
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ISO |
ClinVar Annotator: match by term: Glucocorticoid deficiency 2 | ClinVar Annotator: match by term: MRAP-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363
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G |
Nnt |
nicotinamide nucleotide transhydrogenase |
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ISO |
ClinVar Annotator: match by term: Glucocorticoid deficiency 4 | ClinVar Annotator: match by term: NNT-related condition |
OMIM ClinVar |
PMID:22634753 PMID:23474776 PMID:25741868 PMID:26070314 PMID:26548497 PMID:27129361 PMID:28492532 PMID:33223529 More...
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NCBI chr 2:51,411,413...51,505,125
Ensembl chr 2:51,411,413...51,504,823
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G |
Comt |
catechol-O-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Glucocorticoid deficiency 5 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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G |
Txnrd2 |
thioredoxin reductase 2 |
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ISO |
ClinVar Annotator: match by term: Glucocorticoid deficiency 5 | ClinVar Annotator: match by term: TXNRD2-related condition |
OMIM ClinVar |
PMID:16199547 PMID:21247928 PMID:24601690 PMID:25741868 PMID:26300845 PMID:28416588 PMID:28492532 PMID:31712860 PMID:31983221 PMID:32257832 More...
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NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
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G |
Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
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ISO |
CMO II deficiency, OMIM:610600; protein:missense mutations:cds:p.R181W, p.V386A (human) |
RGD |
PMID:1594605 |
RGD:1600824 |
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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G |
Cyp11b3 |
cytochrome P450, family 11, subfamily b, polypeptide 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11238478 |
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NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
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G |
Rhcg |
Rh family, C glycoprotein |
treatment |
IEP |
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RGD |
PMID:21415155 |
RGD:9850160 |
NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876
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G |
Cdkn1c |
cyclin-dependent kinase inhibitor 1C |
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ISO |
ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 PMID:24098681 PMID:24313804 PMID:24624461 PMID:25057881 PMID:25262539 PMID:25614875 PMID:25741868 PMID:28492532 PMID:28546232 PMID:30374176 PMID:31630891 PMID:31976094 PMID:33076988 PMID:34098225 More...
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NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
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G |
Samd9 |
sterile alpha motif domain containing 9 |
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ISO |
ClinVar Annotator: match by term: MIRAGE syndrome | ClinVar Annotator: match by term: MYELODYSPLASIA, INFECTION, RESTRICTION OF GROWTH, ADRENAL HYPOPLASIA, GENITAL PHENOTYPES, AND ENTEROPATHY |
OMIM ClinVar |
PMID:16960814 PMID:18094730 PMID:24029230 PMID:25741868 PMID:27182967 PMID:28346228 PMID:28492532 PMID:29266745 PMID:29365320 PMID:29506479 PMID:30046003 PMID:31208161 PMID:31231135 PMID:31309983 PMID:31620126 PMID:31638924 PMID:31666768 PMID:32106287 PMID:33237688 PMID:34621053 More...
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NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322
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G |
Acox1 |
acyl-CoA oxidase 1 |
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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 |
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NCBI chr10:101,375,769...101,401,624
Ensembl chr10:101,375,775...101,401,644
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G |
Galk1 |
galactokinase 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:101,243,146...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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:101,312,476...101,320,775
Ensembl chr10:101,312,446...101,320,736
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:25741868 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:155,774,132...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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
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G |
Atn1 |
atrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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G |
C1rl |
complement C1r subcomponent like |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134
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G |
C1s |
complement C1s |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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G |
C3ar1 |
complement C3a receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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G |
Cd163 |
CD163 molecule |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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G |
Cd27 |
CD27 molecule |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008
|
|
G |
Clec4a3 |
C-type lectin domain family 4, member A3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:156,214,030...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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:156,589,591...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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:156,539,408...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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:156,047,043...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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
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 |
|
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 |
|
NCBI chr 4:157,551,276...157,552,924
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G |
Iffo1 |
intermediate filament family orphan 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:157,646,243...157,662,035
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
|
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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G |
Phb2 |
prohibitin 2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272
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G |
Pianp |
PILR alpha associated neural protein |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,796,425...157,804,842
Ensembl chr 4:157,798,808...157,804,842
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G |
Ptms |
parathymosin |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,722,384...157,726,575
Ensembl chr 4:157,722,386...157,727,009
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G |
Ptpn6 |
protein tyrosine phosphatase, non-receptor type 6 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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G |
Rimklb |
ribosomal modification protein rimK-like family member B |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:155,664,392...155,706,888
Ensembl chr 4:155,664,375...155,706,711
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G |
Scnn1a |
sodium channel epithelial 1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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G |
Slc2a3 |
solute carrier family 2 member 3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 |
|
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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G |
Spsb2 |
splA/ryanodine receptor domain and SOCS box containing 2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,613,404...157,615,293
Ensembl chr 4:157,613,401...157,615,284
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G |
Tapbpl |
TAP binding protein-like |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:158,021,454...158,028,905
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tpi1 |
triosephosphate isomerase 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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G |
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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G |
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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G |
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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Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Obesity, adrenal insufficiency, and red hair due to POMC deficiency | ClinVar Annotator: match by term: POMC-related condition | ClinVar Annotator: match by term: Proopiomelanocortin deficiency |
CTD OMIM ClinVar |
PMID:8302318 PMID:9620771 PMID:9768693 PMID:10193875 PMID:11941477 PMID:12165561 PMID:14557433 PMID:16459314 PMID:18091355 PMID:18697863 PMID:18765507 PMID:19221669 PMID:20349035 PMID:23293326 PMID:23649472 PMID:24890885 PMID:25741868 PMID:27906547 PMID:28492532 PMID:29970488 More...
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NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Aaas |
aladin WD repeat nucleoporin |
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ISO |
ClinVar Annotator: match by term: Achalasia-alacrima syndrome | ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 PMID:12548737 PMID:12700313 PMID:12730363 PMID:12752575 PMID:14646395 PMID:15173230 PMID:15516781 PMID:15666842 PMID:15690314 PMID:16098009 PMID:16199547 PMID:16609705 PMID:16938764 PMID:17853339 PMID:18172684 PMID:18261130 PMID:18414213 PMID:18615337 PMID:18628786 PMID:18953174 PMID:20674935 PMID:21626165 PMID:22538409 PMID:22824007 PMID:23315990 PMID:25741868 PMID:26243364 PMID:26595337 PMID:27133709 PMID:27414811 PMID:27618595 PMID:28492532 PMID:29180348 PMID:29255950 PMID:29383495 PMID:29874194 PMID:30069287 PMID:30381913 PMID:30455725 PMID:30612286 PMID:31600784 PMID:31937715 PMID:32146693 PMID:32700293 PMID:35570467 More...
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NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961
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Myg1 |
MYG1 exonuclease |
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ISO |
ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia |
ClinVar |
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NCBI chr 7:133,456,778...133,463,985
Ensembl chr 7:133,456,750...133,466,969
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Dmd |
dystrophin |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked |
ClinVar |
PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 |
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NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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Fthl17a |
ferritin, heavy polypeptide-like 17, member A |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked |
ClinVar |
PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 |
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NCBI chr X:49,595,422...49,596,399
Ensembl chr X:49,595,718...49,596,266
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Gk |
glycerol kinase |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked |
ClinVar |
PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 |
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NCBI chr X:50,162,089...50,238,707
Ensembl chr X:50,163,123...50,238,631
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Il1rapl1 |
interleukin 1 receptor accessory protein-like 1 |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked |
ClinVar |
PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 |
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NCBI chr X:51,371,969...52,876,726
Ensembl chr X:51,378,215...52,876,772
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Mageb1 |
MAGE family member B1 |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked |
ClinVar |
PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 |
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NCBI chr X:50,915,789...50,921,863
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Mageb2 |
MAGE family member B2 |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked |
ClinVar |
PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 |
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NCBI chr X:50,827,538...50,833,272
Ensembl chr X:50,827,563...50,833,151
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Mageb3 |
MAGE family member B3 |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked |
ClinVar |
PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 |
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NCBI chr X:50,865,484...50,866,479
Ensembl chr X:50,865,484...50,866,479
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Nr0b1 |
nuclear receptor subfamily 0, group B, member 1 |
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ISO ISS |
ClinVar Annotator: match by term: Adrenal hypoplasia, congenital | ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked OMIM:300200 |
OMIM ClinVar MouseDO |
PMID:6891556 PMID:7609262 PMID:7990953 PMID:7990958 PMID:8636263 PMID:8855822 PMID:9003500 PMID:9063431 PMID:9195207 PMID:9360549 PMID:9415399 PMID:9529340 PMID:9536098 PMID:10210708 PMID:10361383 PMID:10522996 PMID:10599709 PMID:10675358 PMID:10848616 PMID:11113848 PMID:11443184 PMID:11549627 PMID:11738790 PMID:11748841 PMID:11748852 PMID:11788621 PMID:12519885 PMID:12629128 PMID:15841486 PMID:16459121 PMID:16684822 PMID:17164309 PMID:17504899 PMID:17576681 PMID:17587282 PMID:18339285 PMID:19672728 PMID:20573681 PMID:20685758 PMID:21029627 PMID:21408189 PMID:21739173 PMID:21925982 PMID:22761912 PMID:23018754 PMID:23384712 PMID:23512386 PMID:25741868 PMID:26467025 PMID:26500747 PMID:26980296 PMID:28492532 PMID:28546232 PMID:30620004 PMID:31263616 PMID:32482417 PMID:34193132 More...
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NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011
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Tab3 |
TGF-beta activated kinase 1 (MAP3K7) binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked |
ClinVar |
PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 |
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NCBI chr X:49,972,414...50,044,658
Ensembl chr X:49,972,330...50,042,056
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Tasl |
TLR adaptor interacting with endolysosomal SLC15A4 |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked |
ClinVar |
PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 |
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NCBI chr X:50,403,962...50,423,141
Ensembl chr X:50,361,248...50,423,269
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