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G |
Abcd3 |
ATP binding cassette subfamily D member 3 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:1301993 PMID:1301993 |
RGD:1598658, RGD:1598658 |
NCBI chr 2:209,852,087...209,905,763
Ensembl chr 2:209,852,087...209,906,020
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G |
Cnpy3 |
canopy FGF signaling regulator 3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
ClinVar |
PMID:28492532 |
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NCBI chr 9:14,233,478...14,247,847
Ensembl chr 9:14,233,428...14,247,831
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G |
Creb3l1 |
cAMP responsive element binding protein 3-like 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456
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G |
Cry2 |
cryptochrome circadian regulator 2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965
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G |
Cyp27a1 |
cytochrome P450, family 27, subfamily a, polypeptide 1 |
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ISO |
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RGD |
PMID:14673138 |
RGD:13782195 |
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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G |
Dgkz |
diacylglycerol kinase zeta |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099
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G |
Frey1 |
Frey regulator of sperm-oocyte fusion 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,354,303...78,355,055
Ensembl chr 3:78,354,303...78,355,055
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G |
Gatad1 |
GATA zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome |
ClinVar |
PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:25326635 PMID:25525159 PMID:25741868 PMID:26319495 PMID:26387595 PMID:26467025 PMID:27124789 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:28492532 PMID:29261186 PMID:29419819 PMID:30561787 PMID:30733538 PMID:30755224 PMID:31374812 PMID:31628608 PMID:31831025 PMID:33083013 PMID:33708531 More...
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NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107
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G |
Gnmt |
glycine N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
ClinVar |
PMID:28492532 |
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NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
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G |
Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10343282 |
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NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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G |
Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:21888010 |
RGD:14747040 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Large2 |
LARGE xylosyl- and glucuronyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,334,627...78,347,167
Ensembl chr 3:78,336,056...78,342,184
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G |
Mapk8ip1 |
mitogen-activated protein kinase 8 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,355,051...78,372,946
Ensembl chr 3:78,355,048...78,372,884
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G |
Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
|
ISO |
DNA:deletions, missense mutations, nonsense mutation: exon:multiple |
RGD |
PMID:16141001 |
RGD:11062374 |
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon 15: p.G844D (c.2531G>A) (mouse) DNA:SNP:exon 15: c.2531G>A (p. G844D) (mouse) ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome |
CTD ClinVar RGD |
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:9536098 PMID:9539740 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:11439091 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:19877282 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:22871920 PMID:23247051 PMID:23757202 PMID:24033266 PMID:24503136 PMID:25133751 PMID:25326635 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26319495 PMID:26387595 PMID:26467025 PMID:26594346 PMID:26643206 PMID:27090541 PMID:27124789 PMID:27231023 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27872819 PMID:27882258 PMID:28454995 PMID:28468868 PMID:28492532 PMID:29419819 PMID:30362618 PMID:30561787 PMID:30733538 PMID:30755224 PMID:31319225 PMID:31374812 PMID:31831025 PMID:32056211 PMID:32214227 PMID:32596134 PMID:32866347 PMID:33083013 PMID:33708531 PMID:34744965 PMID:24503136 PMID:31207289 More...
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RGD:25671425, RGD:25671426 |
NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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G |
Pex10 |
peroxisomal biogenesis factor 10 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome |
CTD ClinVar |
PMID:9683594 PMID:9700193 PMID:10527683 PMID:10862081 PMID:12794690 PMID:15542397 PMID:16199547 PMID:17041890 PMID:17702006 PMID:19105186 PMID:19127411 PMID:19142205 PMID:20301621 PMID:20695019 PMID:21031596 PMID:21465523 PMID:24033266 PMID:25179809 PMID:25525159 PMID:25741868 PMID:26319495 PMID:27230853 PMID:28320181 PMID:28492532 PMID:30640048 More...
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NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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G |
Pex11b |
peroxisomal biogenesis factor 11 beta |
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ISS ISO |
OMIM:214100 ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
MouseDO ClinVar |
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NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495
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G |
Pex12 |
peroxisomal biogenesis factor 12 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Peroxisome biogenesis disorder ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
CTD ClinVar |
PMID:9090384 PMID:9536098 PMID:9632816 PMID:9792857 PMID:10527683 PMID:10562279 PMID:10837480 PMID:12032265 PMID:14571262 PMID:14630978 PMID:15184617 PMID:15241794 PMID:15542397 PMID:16199547 PMID:17576681 PMID:19105186 PMID:19127411 PMID:19877282 PMID:21031596 PMID:21465523 PMID:24627108 PMID:25287621 PMID:25741868 PMID:26094004 PMID:26319495 PMID:28492532 PMID:29389947 More...
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NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428
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G |
Pex13 |
peroxisomal biogenesis factor 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
CTD ClinVar |
PMID:10332040 PMID:19449432 PMID:25741868 PMID:28492532 PMID:33190326 PMID:35854306 More...
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NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
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G |
Pex14 |
peroxisomal biogenesis factor 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15146459 PMID:18285423 |
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NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272
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G |
Pex16 |
peroxisomal biogenesis factor 16 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum |
CTD ClinVar |
PMID:9536098 PMID:9837814 PMID:11890679 PMID:16199547 PMID:17576681 PMID:20647552 PMID:20681997 PMID:25326635 PMID:25741868 PMID:27391121 PMID:28492532 PMID:30078639 More...
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NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
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G |
Pex19 |
peroxisomal biogenesis factor 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10051604 |
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NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608
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G |
Pex2 |
peroxisomal biogenesis factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome |
CTD ClinVar RGD |
PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 PMID:10528859 PMID:10652207 PMID:14630978 PMID:15542397 PMID:17041890 PMID:21031596 PMID:21465523 PMID:23430938 PMID:23590336 PMID:23829372 PMID:25333069 PMID:25741868 PMID:28089346 PMID:28492532 PMID:9382874 PMID:9288097 More...
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RGD:13207456, RGD:13207457 |
NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404
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G |
Pex26 |
peroxisomal biogenesis factor 26 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
CTD ClinVar |
PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 PMID:16257970 PMID:19877282 PMID:21031596 PMID:25741868 PMID:26287655 PMID:26319495 PMID:26627908 PMID:28492532 PMID:28944237 PMID:30366024 More...
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NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
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G |
Pex3 |
peroxisomal biogenesis factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10942428 |
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NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
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ISO |
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RGD |
PMID:11583975 PMID:9288097 PMID:28866057 |
RGD:25440483, RGD:13207457, RGD:25440485 |
NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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G |
Pex6 |
peroxisomal biogenesis factor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome |
CTD ClinVar |
PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 PMID:11355018 PMID:11873320 PMID:15542397 PMID:15858711 PMID:16199547 PMID:16530715 PMID:17190851 PMID:17576681 PMID:19105186 PMID:19142205 PMID:19763152 PMID:19877282 PMID:20301621 PMID:20307669 PMID:21031596 PMID:21520333 PMID:22406018 PMID:22871920 PMID:22894767 PMID:23757202 PMID:24016303 PMID:24033266 PMID:24459294 PMID:25079577 PMID:25525159 PMID:25741868 PMID:26094004 PMID:26275793 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26669662 PMID:26700162 PMID:26943801 PMID:27302843 PMID:27604308 PMID:27779215 PMID:27848944 PMID:28492532 PMID:28857144 PMID:29047053 PMID:29220678 PMID:29676688 PMID:31216405 PMID:31831025 PMID:31884617 PMID:31980526 PMID:32399598 PMID:33003980 PMID:33776059 More...
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NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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G |
Phf21a |
PHD finger protein 21A |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,158,760...78,331,903
Ensembl chr 3:78,194,549...78,331,865
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G |
Phyh |
phytanoyl-CoA 2-hydroxylase |
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ISO |
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RGD |
PMID:8954107 PMID:10709665 |
RGD:13831312, RGD:13831337 |
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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G |
Ppp2r5d |
protein phosphatase 2, regulatory subunit B', delta |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
ClinVar |
PMID:28492532 |
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NCBI chr 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400
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G |
Ptcra |
pre T-cell antigen receptor alpha |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
ClinVar |
PMID:28492532 |
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NCBI chr 9:14,218,366...14,229,141
Ensembl chr 9:14,218,802...14,229,235
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G |
Rbm48 |
RNA binding motif protein 48 |
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ISO |
ClinVar Annotator: match by term: Zellweger Spectrum |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:30,559,063...30,569,409
Ensembl chr 4:30,559,087...30,569,406
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G |
Scp2 |
sterol carrier protein 2 |
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ISO |
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RGD |
PMID:3555624 |
RGD:13782196 |
NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287
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G |
Slc35c1 |
solute carrier family 35 member C1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,421,925...78,429,603
Ensembl chr 3:78,421,933...78,428,520
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G |
Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
|
ISO |
ClinVar Annotator: match by term: Pseudo Zellweger syndrome |
ClinVar |
PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 PMID:22864515 PMID:23181892 PMID:24033266 PMID:24108619 PMID:25741868 PMID:25967389 PMID:26970254 PMID:28492532 More...
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NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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G |
Gatad1 |
GATA zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Zellweger leukodystrophy |
ClinVar |
PMID:9398847 PMID:9536098 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:25326635 PMID:25525159 PMID:25741868 PMID:26319495 PMID:26387595 PMID:26467025 PMID:27124789 PMID:27302843 PMID:27353947 PMID:27469511 PMID:28492532 PMID:29419819 PMID:30561787 PMID:30733538 PMID:30755224 PMID:31374812 PMID:31831025 PMID:33083013 PMID:33708531 More...
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NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
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ISO |
ClinVar Annotator: match by term: Zellweger leukodystrophy |
ClinVar |
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:9536098 PMID:9539740 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:11439091 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:19877282 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:22871920 PMID:23247051 PMID:23757202 PMID:24033266 PMID:24503136 PMID:25133751 PMID:25326635 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26319495 PMID:26387595 PMID:26467025 PMID:26594346 PMID:26643206 PMID:27090541 PMID:27124789 PMID:27231023 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27872819 PMID:27882258 PMID:28454995 PMID:28468868 PMID:28492532 PMID:29419819 PMID:30362618 PMID:30561787 PMID:30733538 PMID:30755224 PMID:31374812 PMID:31831025 PMID:32056211 PMID:32214227 PMID:32596134 PMID:33083013 PMID:33708531 PMID:34744965 More...
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NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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G |
Pex16 |
peroxisomal biogenesis factor 16 |
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ISO |
ClinVar Annotator: match by term: Zellweger leukodystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
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G |
Pex2 |
peroxisomal biogenesis factor 2 |
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ISO |
ClinVar Annotator: match by term: Zellweger leukodystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404
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G |
Pex6 |
peroxisomal biogenesis factor 6 |
|
ISO |
ClinVar Annotator: match by term: Zellweger leukodystrophy |
ClinVar |
PMID:10408779 PMID:19877282 PMID:25525159 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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G |
Rbm48 |
RNA binding motif protein 48 |
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ISO |
ClinVar Annotator: match by term: Zellweger leukodystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:30,559,063...30,569,409
Ensembl chr 4:30,559,087...30,569,406
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