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G |
Pex7 |
peroxisomal biogenesis factor 7 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Phytanic acid storage disease |
CTD ClinVar |
PMID:1773541 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9536098 PMID:9686382 PMID:10083738 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12325024 PMID:12522768 PMID:14974078 PMID:16199547 PMID:17576681 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:23572185 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26408048 PMID:26467025 PMID:26587300 PMID:28492532 PMID:31964843 PMID:31980526 PMID:32483926 More...
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NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
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G |
Phyh |
phytanoyl-CoA 2-hydroxylase |
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ISO ISS |
ClinVar Annotator: match by term: PHYH-related condition | ClinVar Annotator: match by term: Phytanic acid oxidase deficiency | ClinVar Annotator: match by term: Phytanic acid storage disease | ClinVar Annotator: match by term: Refsum syndrome OMIM:266500 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD RGD |
PMID:1155634 PMID:9326939 PMID:9326940 PMID:9536098 PMID:9657395 PMID:10767344 PMID:11555634 PMID:11948235 PMID:12522768 PMID:14974078 PMID:16186124 PMID:16199547 PMID:17576681 PMID:17905308 PMID:18612766 PMID:20818383 PMID:24033266 PMID:25472526 PMID:25525159 PMID:25604618 PMID:25741868 PMID:27229527 PMID:28041643 PMID:28470644 PMID:28492532 PMID:28681609 PMID:31240149 PMID:31456290 PMID:32581362 PMID:34906470 PMID:19004801 PMID:10709665 More...
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RGD:13831313, RGD:13831337 |
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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G |
Phyh |
phytanoyl-CoA 2-hydroxylase |
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ISO |
ClinVar Annotator: match by term: Refsum disease, adult, 1 |
ClinVar |
PMID:1155634 PMID:2433405 PMID:9326939 PMID:9326940 PMID:9657395 PMID:10767344 PMID:11555634 PMID:11948235 PMID:14974078 PMID:17905308 PMID:18612766 PMID:25525159 PMID:25741868 PMID:28041643 PMID:28470644 PMID:28492532 PMID:28681609 PMID:31240149 PMID:34906470 More...
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NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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G |
Ndrg1 |
N-myc downstream regulated 1 |
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ISO ISS |
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D OMIM:601455 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 PMID:17470135 PMID:17576681 PMID:20301641 PMID:20582309 PMID:21892769 PMID:23393557 PMID:23996628 PMID:24136616 PMID:25108819 PMID:25231362 PMID:25741868 PMID:26002053 PMID:26467025 PMID:28454995 PMID:28492532 PMID:30311386 PMID:31673878 PMID:32376792 More...
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NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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G |
Abcc10 |
ATP binding cassette subfamily C member 10 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,657,242...14,677,178
Ensembl chr 9:14,657,264...14,677,178
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G |
Bicral |
BICRA like chromatin remodeling complex associated protein |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,100,253...14,185,368
Ensembl chr 9:14,154,209...14,183,671
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G |
Bysl |
bystin-like |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,382,806...13,392,557
Ensembl chr 9:13,382,557...13,394,339
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G |
C9h6orf132 |
similar to human chromosome 6 open reading frame 132 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,524,822...13,561,756
Ensembl chr 9:13,525,395...13,561,585
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G |
C9h6orf226 |
smilar to human chromosome 6 open reading frame 226 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,207,988...14,209,134
Ensembl chr 9:14,208,417...14,208,761
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G |
Ccnd3 |
cyclin D3 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371
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G |
Cnpy3 |
canopy FGF signaling regulator 3 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,233,478...14,247,847
Ensembl chr 9:14,233,428...14,247,831
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G |
Creb3l1 |
cAMP responsive element binding protein 3-like 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456
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G |
Crip3 |
cysteine-rich protein 3 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,554,450...14,557,344
Ensembl chr 9:14,554,450...14,557,302
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G |
Cry2 |
cryptochrome circadian regulator 2 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965
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G |
Cul7 |
cullin 7 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
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G |
Cul9 |
cullin 9 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,435,948...14,479,552
Ensembl chr 9:14,436,111...14,479,548
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G |
Dgkz |
diacylglycerol kinase zeta |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099
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G |
Dlk2 |
delta like non-canonical Notch ligand 2 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,677,102...14,681,584
Ensembl chr 9:14,676,562...14,681,594
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G |
Dnph1 |
2'-deoxynucleoside 5'-phosphate N-hydrolase 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,481,296...14,484,034
Ensembl chr 9:14,481,066...14,484,022
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G |
Foxp4 |
forkhead box P4 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,058,506...13,115,406
Ensembl chr 9:13,058,476...13,114,879
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G |
Frey1 |
Frey regulator of sperm-oocyte fusion 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,354,303...78,355,055
Ensembl chr 3:78,354,303...78,355,055
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G |
Frs3 |
fibroblast growth factor receptor substrate 3 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,288,559...13,297,285
Ensembl chr 9:13,288,667...13,295,382
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G |
Gatad1 |
GATA zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease |
ClinVar |
PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21846392 PMID:25525159 PMID:25741868 PMID:26319495 PMID:26387595 PMID:26467025 PMID:27124789 PMID:27302843 PMID:27353947 PMID:27848944 PMID:28446956 PMID:28492532 PMID:29419819 PMID:30561787 PMID:30733538 PMID:31374812 PMID:31831025 PMID:32203225 PMID:32483926 PMID:33083013 PMID:33708531 PMID:33955814 PMID:34513757 More...
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NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
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G |
Gnmt |
glycine N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:26669662 PMID:27779215 PMID:28492532 More...
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NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
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G |
Gtpbp2 |
GTP binding protein 2 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,813,964...14,823,419
Ensembl chr 9:14,813,964...14,823,241
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G |
Guca1a |
guanylate cyclase activator 1A |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565
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G |
Guca1b |
guanylate cyclase activator 1B |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455
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G |
Klc4 |
kinesin light chain 4 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,337,164...14,351,075
Ensembl chr 9:14,337,534...14,351,066
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G |
Klhdc3 |
kelch domain containing 3 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,302,345...14,308,736
Ensembl chr 9:14,302,354...14,308,736
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G |
Large2 |
LARGE xylosyl- and glucuronyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,334,627...78,347,167
Ensembl chr 3:78,336,056...78,342,184
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G |
Lrrc73 |
leucine rich repeat containing 73 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,726,157...14,730,144
Ensembl chr 9:14,726,158...14,729,158
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G |
Mad2l1bp |
MAD2L1 binding protein |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,832,133...14,836,458
Ensembl chr 9:14,832,132...14,837,447
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G |
Mapk8ip1 |
mitogen-activated protein kinase 8 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,355,051...78,372,946
Ensembl chr 3:78,355,048...78,372,884
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G |
Mdfi |
MyoD family inhibitor |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,156,806...13,175,218
Ensembl chr 9:13,156,866...13,175,217
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G |
Mea1 |
male-enhanced antigen 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,300,283...14,304,130
Ensembl chr 9:14,293,446...14,302,060
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G |
Med20 |
mediator complex subunit 20 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,370,146...13,382,756
Ensembl chr 9:13,370,146...13,382,476
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G |
Mrpl2 |
mitochondrial ribosomal protein L2 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,333,233...14,337,006
Ensembl chr 9:14,333,234...14,337,040
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G |
Mrps10 |
mitochondrial ribosomal protein S10 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,614,897...13,624,819
Ensembl chr 9:13,614,897...13,624,779
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G |
Mrps18a |
mitochondrial ribosomal protein S18A |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,853,322...14,869,819
Ensembl chr 9:14,853,291...14,869,835
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G |
Ncr2 |
natural cytotoxicity triggering receptor 2 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:12,777,195...12,828,437
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 PMID:9536098 PMID:9539740 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:11439091 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:19877282 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21846392 PMID:21862673 PMID:22871920 PMID:23247051 PMID:23757202 PMID:24033266 PMID:24503136 PMID:25133751 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26319495 PMID:26387595 PMID:26467025 PMID:26643206 PMID:27090541 PMID:27124789 PMID:27231023 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:27872819 PMID:27882258 PMID:28446956 PMID:28468868 PMID:28492532 PMID:29419819 PMID:30362618 PMID:30561787 PMID:30733538 PMID:31319225 PMID:31374812 PMID:31742715 PMID:31831025 PMID:32056211 PMID:32203225 PMID:32214227 PMID:32483926 PMID:32959227 PMID:33083013 PMID:33708531 PMID:33955814 PMID:34513757 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 |
Pex10 |
peroxisomal biogenesis factor 10 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9683594 PMID:9700193 PMID:10527683 PMID:10862081 PMID:12794690 PMID:15542397 PMID:17041890 PMID:17702006 PMID:19105186 PMID:19127411 PMID:19142205 PMID:20301621 PMID:20695019 PMID:21031596 PMID:21465523 PMID:25525159 PMID:25741868 PMID:27230853 PMID:28320181 PMID:28492532 PMID:30640048 More...
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NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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G |
Pex11b |
peroxisomal biogenesis factor 11 beta |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
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NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495
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G |
Pex12 |
peroxisomal biogenesis factor 12 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9090384 PMID:9536098 PMID:9632816 PMID:9792857 PMID:10527683 PMID:10562279 PMID:10837480 PMID:12032265 PMID:14571262 PMID:14630978 PMID:15184617 PMID:15241794 PMID:15542397 PMID:16199547 PMID:17576681 PMID:19105186 PMID:19127411 PMID:19877282 PMID:21031596 PMID:21465523 PMID:24627108 PMID:25287621 PMID:25741868 PMID:26094004 PMID:28492532 PMID:29389947 More...
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NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428
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G |
Pex13 |
peroxisomal biogenesis factor 13 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:10332040 PMID:21031596 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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Pex16 |
peroxisomal biogenesis factor 16 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) |
ClinVar |
PMID:9536098 PMID:9837814 PMID:11890679 PMID:16199547 PMID:17576681 PMID:20647552 PMID:20681997 PMID:24091540 PMID:25287621 PMID:25326635 PMID:25741868 PMID:27391121 PMID:28492532 PMID:30078639 PMID:31227335 PMID:35106698 More...
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NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
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Pex2 |
peroxisomal biogenesis factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE |
CTD ClinVar |
PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 PMID:10528859 PMID:10652207 PMID:10960480 PMID:14630978 PMID:15542397 PMID:17041890 PMID:21031596 PMID:21465523 PMID:23430938 PMID:23590336 PMID:23829372 PMID:25333069 PMID:25741868 PMID:28089346 PMID:28492532 More...
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NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404
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Pex26 |
peroxisomal biogenesis factor 26 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
CTD ClinVar |
PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 PMID:16199547 PMID:16257970 PMID:19105186 PMID:19877282 PMID:21031596 PMID:25741868 PMID:26287655 PMID:26627908 PMID:27392320 PMID:28492532 PMID:28944237 PMID:29947050 PMID:30366024 PMID:30446579 More...
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NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
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Pex3 |
peroxisomal biogenesis factor 3 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:10942428 PMID:21031596 PMID:28492532 |
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NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
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Pex5 |
peroxisomal biogenesis factor 5 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
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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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Pex6 |
peroxisomal biogenesis factor 6 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile Refsum's disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B |
ClinVar |
PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 PMID:11355018 PMID:11873320 PMID:15542397 PMID:15858711 PMID:16199547 PMID:16530715 PMID:17041890 PMID:17190851 PMID:17576681 PMID:19105186 PMID:19142205 PMID:19763152 PMID:19877282 PMID:20301621 PMID:20307669 PMID:21031596 PMID:21520333 PMID:22406018 PMID:22871920 PMID:22894767 PMID:23757202 PMID:24016303 PMID:24033266 PMID:24459294 PMID:25079577 PMID:25079599 PMID:25525159 PMID:25741868 PMID:25741915 PMID:26094004 PMID:26275793 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26669662 PMID:26700162 PMID:26943801 PMID:27007981 PMID:27302843 PMID:27604308 PMID:27779215 PMID:27848944 PMID:28492532 PMID:28857144 PMID:29047053 PMID:29220678 PMID:29419819 PMID:29676688 PMID:31216405 PMID:31374812 PMID:31555682 PMID:31831025 PMID:31884617 PMID:31964843 PMID:31980526 PMID:32214787 PMID:32399598 PMID:33003980 PMID:33776059 PMID:34055681 PMID:34387732 PMID:34448047 PMID:34662339 PMID:36649687 PMID:36785559 PMID:37144748 More...
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NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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Pgc |
progastricsin |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,257,462...13,265,682
Ensembl chr 9:13,257,462...13,265,682
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Phf21a |
PHD finger protein 21A |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,158,760...78,331,903
Ensembl chr 3:78,194,549...78,331,865
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Polh |
DNA polymerase eta |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,778,355...14,813,210
Ensembl chr 9:14,777,888...14,812,723
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Polr1c |
RNA polymerase I and III subunit C |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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Ppp2r5d |
protein phosphatase 2, regulatory subunit B', delta |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400
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Prickle4 |
prickle planar cell polarity protein 4 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,297,494...13,305,635
Ensembl chr 9:13,297,758...13,305,630
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Prph2 |
peripherin 2 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
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Ptcra |
pre T-cell antigen receptor alpha |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,218,907...14,229,141
Ensembl chr 9:14,218,802...14,229,235
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Ptk7 |
protein tyrosine kinase 7 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,352,155...14,418,473
Ensembl chr 9:14,351,202...14,418,494
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Rpl7l1 |
ribosomal protein L7-like 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,198,101...14,206,119
Ensembl chr 9:14,198,092...14,206,110
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Rrp36 |
ribosomal RNA processing 36 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,308,956...14,316,959
Ensembl chr 9:14,308,982...14,316,110
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Rsph9 |
radial spoke head component 9 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,840,115...14,852,950
Ensembl chr 9:14,840,115...14,860,062
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Slc22a7 |
solute carrier family 22 member 7 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,547,073...14,554,354
Ensembl chr 9:14,547,849...14,553,921
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Slc35c1 |
solute carrier family 35 member C1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 |
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NCBI chr 3:78,421,925...78,429,603
Ensembl chr 3:78,421,933...78,428,520
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Srf |
serum response factor |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
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Taf8 |
TATA-box binding protein associated factor 8 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,491,892...13,511,713
Ensembl chr 9:13,491,937...13,511,717
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Tbcc |
tubulin folding cofactor C |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,098,855...14,100,043
Ensembl chr 9:14,098,868...14,100,042
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Tfeb |
transcription factor EB |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,198,890...13,254,726
Ensembl chr 9:13,198,891...13,254,714
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Tjap1 |
tight junction associated protein 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,701,418...14,725,623
Ensembl chr 9:14,701,468...14,725,751
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Tomm6 |
translocase of outer mitochondrial membrane 6 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,304,269...13,305,637
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Trem1 |
triggering receptor expressed on myeloid cells 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Trem2 |
triggering receptor expressed on myeloid cells 2 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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Treml2 |
triggering receptor expressed on myeloid cells-like 2 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:12,694,453...12,705,379
Ensembl chr 9:12,694,697...12,705,324
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Treml4 |
triggering receptor expressed on myeloid cells-like 4 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:12,718,968...12,743,879
Ensembl chr 9:12,721,815...12,743,253
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Trerf1 |
transcriptional regulating factor 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,631,619...13,858,326
Ensembl chr 9:13,634,126...13,857,029
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Ttbk1 |
tau tubulin kinase 1 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,493,166...14,538,372
Ensembl chr 9:14,493,389...14,535,774
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Ubr2 |
ubiquitin protein ligase E3 component n-recognin 2 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,982,427...14,062,315
Ensembl chr 9:13,982,329...14,062,139
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Usp49 |
ubiquitin specific peptidase 49 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:13,305,640...13,366,132
Ensembl chr 9:13,308,178...13,366,132
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Vegfa |
vascular endothelial growth factor A |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Xpo5 |
exportin 5 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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Yipf3 |
Yip1 domain family, member 3 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,730,289...14,735,644
Ensembl chr 9:14,730,284...14,735,641
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Zfp318 |
zinc finger protein 318 |
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ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 |
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NCBI chr 9:14,562,958...14,601,557
Ensembl chr 9:14,563,313...14,601,409
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Pex7 |
peroxisomal biogenesis factor 7 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9472033 PMID:9536098 PMID:9686382 PMID:10083738 PMID:10527683 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12054588 PMID:12325024 PMID:12522768 PMID:14974078 PMID:16199547 PMID:17325280 PMID:17576681 PMID:20145307 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:22057399 PMID:23352163 PMID:23462609 PMID:23572185 PMID:24172221 PMID:25640679 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26408048 PMID:26467025 PMID:26587300 PMID:28492532 PMID:31964843 PMID:31980526 PMID:32483926 PMID:34229749 PMID:34529350 PMID:34671977 More...
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NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
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