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G |
Acbd5 |
acyl-CoA binding domain containing 5 |
|
ISS |
|
MouseDO |
|
|
NCBI chr17:89,882,465...89,923,982
Ensembl chr17:89,883,615...89,923,423
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|
G |
Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9345094 PMID:16385454 |
|
NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
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|
G |
Pex1 |
peroxisomal biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisomal disorder |
ClinVar |
PMID:9398847 PMID:9398848 PMID:10384394 PMID:10447258 PMID:11389485 PMID:12402331 PMID:15098231 PMID:16141001 PMID:17055079 PMID:19105186 PMID:21031596 PMID:21846392 PMID:22871920 PMID:24503136 PMID:25412400 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26643206 PMID:27090541 PMID:27872819 PMID:27882258 PMID:28492532 PMID:30362618 PMID:31374812 |
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NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
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G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
|
RGD |
PMID:25176044 |
RGD:13207455 |
NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
|
ISO |
|
RGD |
PMID:15732085 |
RGD:13207458 |
NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
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G |
Pex6 |
peroxisomal biogenesis factor 6 |
|
IMP |
|
RGD |
PMID:7493019 |
RGD:729462 |
NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
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G |
Phyh |
phytanoyl-CoA 2-hydroxylase |
|
ISO |
|
RGD |
PMID:9266377 |
RGD:13831311 |
NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
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G |
Pipox |
pipecolic acid and sarcosine oxidase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10642506 |
|
NCBI chr10:64,951,986...64,964,865
Ensembl chr10:64,952,119...64,964,862
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|
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G |
Cat |
catalase |
|
ISO |
ClinVar Annotator: match by term: Acatalasemia, japanese type ClinVar Annotator: match by term: Acatalasia CTD Direct Evidence: marker/mechanism|therapeutic |
ClinVar OMIM CTD |
PMID:1551654 PMID:2308162 PMID:8673475 PMID:11001624 PMID:11117918 PMID:11197178 PMID:25741868 PMID:26074427 PMID:28492532 |
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NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE ClinVar Annotator: match by term: Adrenomyeloneuropathy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:300100 ClinVar Annotator: match by null |
ClinVar CTD OMIM |
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:7894167 PMID:7904210 PMID:7998779 PMID:8040304 PMID:8048932 PMID:8353949 PMID:8441467 PMID:8566952 PMID:8621506 PMID:8651290 PMID:8773611 PMID:8892025 PMID:9051655 PMID:9088111 PMID:9195223 PMID:9212180 PMID:9242200 PMID:9425230 PMID:9452087 PMID:9553942 PMID:9556301 PMID:9894883 PMID:10190819 PMID:10227685 PMID:10480364 PMID:10551832 PMID:10737980 PMID:10815658 PMID:10980309 PMID:10980539 PMID:11102997 PMID:11220738 PMID:11248239 PMID:11310629 PMID:11330045 PMID:11336405 PMID:11438993 PMID:11739809 PMID:11748843 PMID:11798073 PMID:11810273 PMID:12175782 PMID:12530690 PMID:12624723 PMID:12913200 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:16319717 PMID:16401743 PMID:16415970 PMID:16672758 PMID:16949688 PMID:16996397 PMID:17029209 PMID:17285533 PMID:17498713 PMID:17504626 PMID:17542813 PMID:17602313 PMID:17990484 PMID:18206987 PMID:18306728 PMID:18973459 PMID:19129531 PMID:19496984 PMID:19660195 PMID:19963315 PMID:20008255 PMID:20195870 PMID:20301491 PMID:20455653 PMID:20626745 PMID:20661612 PMID:20800589 PMID:20849526 PMID:20859061 PMID:21068741 PMID:21300044 PMID:21476988 PMID:21478203 PMID:21488864 PMID:21586746 PMID:21700483 PMID:21889498 PMID:21907609 PMID:21966424 PMID:22057157 PMID:22176151 PMID:22198747 PMID:22280810 PMID:22366764 PMID:22479560 PMID:22483867 PMID:22914231 PMID:23009600 PMID:23154058 PMID:23300730 PMID:23419472 PMID:23430809 PMID:23469258 PMID:23566833 PMID:23566848 PMID:23664929 PMID:23671276 PMID:23712774 PMID:23768953 PMID:23835273 PMID:23926373 PMID:24154795 PMID:24480483 PMID:24685009 PMID:24719134 PMID:24722136 PMID:24788897 PMID:25275259 PMID:25324868 PMID:25741868 PMID:26227820 PMID:26260157 PMID:26388597 PMID:26454440 PMID:26467025 PMID:26523528 PMID:26609365 PMID:27067449 PMID:27084228 PMID:27766264 PMID:27779215 PMID:28456143 PMID:28492532 PMID:28503596 PMID:28708278 PMID:28953922 PMID:29056270 PMID:29284317 PMID:29443243 PMID:29557549 PMID:30544401 PMID:30564185 PMID:30902905 PMID:31074578 PMID:32207279, PMID:8048932 |
RGD:1598655 |
NCBI chr X:157,073,860...157,095,652
Ensembl chr X:157,072,736...157,095,274
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G |
Acsbg1 |
acyl-CoA synthetase bubblegum family member 1 |
|
ISO |
|
RGD |
PMID:15800013 |
RGD:11065111 |
NCBI chr 8:59,184,111...59,240,133
Ensembl chr 8:59,184,113...59,239,954
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G |
Arhgap4 |
Rho GTPase activating protein 4 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,873,094...156,888,762
Ensembl chr X:156,873,849...156,888,761
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G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,407,973...156,415,053
Ensembl chr X:156,407,937...156,415,145
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G |
Avpr2 |
arginine vasopressin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,889,006...156,892,707
Ensembl chr X:156,889,410...156,891,213
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G |
Bcap31 |
B-cell receptor-associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:157,094,365...157,126,397
Ensembl chr X:157,095,937...157,126,393
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G |
Ctag2 |
cancer/testis antigen 2 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:148,421,627...148,422,921
Ensembl chr X:148,421,627...148,422,921
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:155,844,914...155,862,363
Ensembl chr X:155,844,857...155,862,475
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G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,429,521...156,438,066
Ensembl chr X:156,429,585...156,438,066
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G |
Emd |
emerin |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,452,847...156,455,858
Ensembl chr X:156,452,818...156,456,035
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G |
F8 |
coagulation factor VIII |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
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G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,319,687...156,328,974
Ensembl chr X:156,319,687...156,328,309
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G |
Fam50a |
family with sequence similarity 50, member A |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,392,646...156,399,763
Ensembl chr X:156,392,630...156,399,760
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G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,460,785...156,487,245
Ensembl chr X:156,463,953...156,487,245
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,400,734...156,407,396
Ensembl chr X:156,400,736...156,407,404
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G |
Hcfc1 |
host cell factor C1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,812,012...156,837,227
Ensembl chr X:156,812,064...156,837,227
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G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
|
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
|
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,999,803...157,008,735
Ensembl chr X:156,999,826...157,008,733
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G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
|
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
|
|
G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,254,187...156,280,046
Ensembl chr X:156,257,173...156,270,748
|
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,716,469...156,726,367
Ensembl chr X:156,716,604...156,725,977
|
|
G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,901,244...156,928,064
Ensembl chr X:156,909,913...156,928,057
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G |
Lage3 |
L antigen family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,355,376...156,356,799
Ensembl chr X:156,355,376...156,356,799
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G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,650,389...156,713,813
Ensembl chr X:156,655,960...156,705,233
|
|
G |
Mmp10 |
matrix metallopeptidase 10 |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr 8:5,734,348...5,742,243
Ensembl chr 8:5,734,348...5,742,243
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|
G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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|
G |
Mpp1 |
membrane palmitoylated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:148,450,213...148,458,945
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,863,655...156,868,950
Ensembl chr X:156,863,754...156,868,950
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G |
Opn1mw |
opsin 1, medium wave sensitive |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,569,683...156,589,907
Ensembl chr X:156,569,683...156,589,907
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G |
Pdzd4 |
PDZ domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,963,343...156,993,591
Ensembl chr X:156,963,870...156,993,591
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|
G |
Pex13 |
peroxisomal biogenesis factor 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10441568 |
|
NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
|
|
G |
Pex26 |
peroxisomal biogenesis factor 26 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12851857 |
|
NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
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G |
Plxna3 |
plexin A3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,363,400...156,379,433
Ensembl chr X:156,363,405...156,379,189
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G |
Plxnb3 |
plexin B3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:157,015,297...157,030,147
Ensembl chr X:157,015,305...157,028,434
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|
G |
Renbp |
renin binding protein |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,854,490...156,863,548
Ensembl chr X:156,854,594...156,863,528
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G |
Rpl10 |
ribosomal protein L10 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,438,251...156,440,461
Ensembl chr X:156,438,251...156,440,461
|
|
G |
Slc10a3 |
solute carrier family 10, member 3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,335,385...156,340,256
Ensembl chr X:156,336,450...156,340,234
|
|
G |
Slc6a8 |
solute carrier family 6 member 8 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:157,129,987...157,139,321
Ensembl chr X:157,129,987...157,139,291
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
|
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
|
|
G |
Srpk3 |
SRSF protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:157,008,773...157,014,342
Ensembl chr X:157,008,824...157,013,443
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|
G |
Ssr4 |
signal sequence receptor subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,995,763...156,999,702
Ensembl chr X:156,995,779...156,999,650
|
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G |
Taz |
tafazzin |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,421,006...156,429,461
Ensembl chr X:156,421,009...156,428,593
|
|
G |
Tex28 |
testis expressed 28 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,540,442...156,569,272
Ensembl chr X:156,552,528...156,569,249
|
|
G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr X:1,364,771...1,369,451
Ensembl chr X:1,364,786...1,369,384
|
|
G |
Tktl1 |
transketolase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,507,797...156,540,733
Ensembl chr X:156,507,797...156,540,733
|
|
G |
Ubl4a |
ubiquitin-like 4A |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:156,340,919...156,343,771
Ensembl chr X:156,340,925...156,343,777
|
|
|
G |
Phyh |
phytanoyl-CoA 2-hydroxylase |
|
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:14974078 PMID:17905308 PMID:18612766 PMID:25741868 PMID:28041643 PMID:28492532 |
|
NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
|
|
|
G |
Pex7 |
peroxisomal biogenesis factor 7 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar Annotator: match by OMIM:614879 |
OMIM ClinVar |
PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9472033 PMID:9686382 PMID:10083738 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12325024 PMID:12522768 PMID:14974078 PMID:17325280 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:23352163 PMID:23572185 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26408048 PMID:26467025 PMID:26587300 PMID:28492532 |
|
NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
|
|
|
G |
Amacr |
alpha-methylacyl-CoA racemase |
|
ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar Annotator: match by OMIM:614307 |
OMIM ClinVar |
PMID:10655068 PMID:12438241 PMID:12512044 PMID:15249642 PMID:18032455 PMID:20558530 PMID:20818383 PMID:20821052 PMID:21576695 PMID:25133958 PMID:25741868 PMID:28492532 |
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NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
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G |
Slc45a2 |
solute carrier family 45, member 2 |
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ISO |
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency |
ClinVar |
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NCBI chr 2:60,966,671...60,999,398
Ensembl chr 2:60,966,789...60,999,398
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G |
Ndrg1 |
N-myc downstream regulated 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4D |
ClinVar OMIM |
PMID:10831399 PMID:12872253 PMID:15322984 PMID:17470135 PMID:20582309 PMID:21892769 PMID:23393557 PMID:23996628 PMID:24136616 PMID:25108819 PMID:25231362 PMID:25741868 PMID:26002053 PMID:26467025 PMID:28492532 PMID:30311386 |
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NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
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G |
Amacr |
alpha-methylacyl-CoA racemase |
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ISO |
ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 4 |
OMIM ClinVar |
PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 PMID:20818383 PMID:20821052 PMID:21576695 PMID:25741868 PMID:28492532 |
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NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
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G |
Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
severity |
ISO |
ClinVar Annotator: match by term: DBP deficiency DNA:mutations:multiple (human) |
ClinVar OMIM |
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:27290639 PMID:28492532, PMID:9345094, PMID:16385454 |
RGD:1599968, RGD:10411884 |
NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
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G |
Gatad1 |
GATA zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects |
ClinVar |
PMID:12402331 PMID:16086329 PMID:16088892 PMID:19105186 PMID:25525159 PMID:25741868 PMID:26387595 PMID:27302843 PMID:28492532 PMID:30733538 PMID:31374812 PMID:31831025 |
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NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
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ISO |
ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects |
ClinVar OMIM |
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:17055079 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21846392 PMID:22871920 PMID:23757202 PMID:24503136 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26387595 PMID:26643206 PMID:27090541 PMID:27302843 PMID:27872819 PMID:27882258 PMID:28468868 PMID:28492532 PMID:30362618 PMID:30733538 PMID:31374812 PMID:31831025 |
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NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
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G |
Pex6 |
peroxisomal biogenesis factor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
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G |
Pex6 |
peroxisomal biogenesis factor 6 |
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ISO |
ClinVar Annotator: match by term: Heimler syndrome 2 ClinVar Annotator: match by OMIM:616617 |
OMIM ClinVar |
PMID:11873320 PMID:15542397 PMID:16530715 PMID:19105186 PMID:19142205 PMID:19877282 PMID:21031596 PMID:22871920 PMID:24016303 PMID:25079577 PMID:25741868 PMID:26387595 PMID:26593283 PMID:26943801 PMID:27302843 PMID:27848944 PMID:28492532 PMID:29220678 PMID:31831025 |
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NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
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G |
Acrbp |
acrosin binding protein |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,563,990...157,577,045
Ensembl chr 4:157,563,990...157,568,023
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G |
Atn1 |
atrophin 1 |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755 Ensembl chr 9:157,267,901...157,274,755
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G |
C1r |
complement C1r |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
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G |
C1rl |
complement C1r subcomponent like |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,108,190...157,122,689
Ensembl chr 4:157,107,469...157,123,446
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G |
C1s |
complement C1s |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
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G |
Cd27 |
CD27 molecule |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,744,881...157,751,609
Ensembl chr 4:157,744,882...157,750,088
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G |
Cd4 |
Cd4 molecule |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
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G |
Cdca3 |
cell division cycle associated 3 |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,347,876...157,351,889
Ensembl chr 4:157,348,020...157,351,604
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G |
Chd4 |
chromodomain helicase DNA binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,612,531...157,645,660
Ensembl chr 4:157,612,536...157,645,659
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G |
Clstn3 |
calsyntenin 3 |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,044,736...157,078,013
Ensembl chr 4:157,043,925...157,078,130
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G |
Cops7a |
COP9 signalosome subunit 7A |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,479,549...157,486,944
Ensembl chr 4:157,479,549...157,486,914
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G |
Emg1 |
EMG1 N1-specific pseudouridine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647
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G |
Eno2 |
enolase 2 |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
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G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
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G |
Gatad1 |
GATA zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B |
ClinVar |
PMID:9398847 PMID:12402331 PMID:16086329 PMID:16141001 PMID:19105186 PMID:21031596 PMID:25525159 PMID:25741868 PMID:27353947 PMID:27848944 PMID:28492532 |
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NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
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G |
Gnb3 |
G protein subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
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G |
Gpr162 |
G protein-coupled receptor 162 |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,375,184...157,381,780
Ensembl chr 4:157,375,184...157,381,105
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G |
Grcc10 |
gene rich cluster, C10 gene |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,264,383...157,266,042
Ensembl chr 4:157,264,383...157,266,018
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G |
Iffo1 |
intermediate filament family orphan 1 |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,659,115...157,676,335
Ensembl chr 4:157,659,147...157,676,331
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G |
Ing4 |
inhibitor of growth family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,554,729...157,563,353
Ensembl chr 4:157,554,794...157,563,352
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G |
Lag3 |
lymphocyte activating 3 |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,425,644...157,433,700
Ensembl chr 4:157,425,644...157,433,467
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G |
Lpar5 |
lysophosphatidic acid receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,581,000...157,596,454
Ensembl chr 4:157,594,436...157,595,972
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G |
Lpcat3 |
lysophosphatidylcholine acyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,181,722...157,222,997
Ensembl chr 4:157,181,795...157,222,996
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G |
Lrrc23 |
leucine rich repeat containing 23 |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,294,386...157,304,590
Ensembl chr 4:157,294,287...157,304,653
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G |
Ltbr |
lymphotoxin beta receptor |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,822,838...157,829,291
Ensembl chr 4:157,822,840...157,829,241
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G |
Mir141 |
microRNA 141 |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,236,346...157,236,439
Ensembl chr 4:157,236,346...157,236,439
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G |
Mir200c |
microRNA 200c |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,236,786...157,236,854
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G |
Mlf2 |
myeloid leukemia factor 2 |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,452,578...157,457,254
Ensembl chr 4:157,452,607...157,457,249
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G |
Mrpl51 |
mitochondrial ribosomal protein L51 |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,705,790...157,709,452
Ensembl chr 4:157,705,790...157,708,748
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G |
Ncapd2 |
non-SMC condensin I complex, subunit D2 |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,682,855...157,705,903
Ensembl chr 4:157,683,077...157,704,596
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G |
Nop2 |
NOP2 nucleolar protein |
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ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,646,759...157,658,502
Ensembl chr 4:157,647,082...157,658,390
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G |
P3h3 |
prolyl 3-hydroxylase 3 |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,359,331...157,375,186
Ensembl chr 4:157,359,332...157,372,861
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar Annotator: match by OMIM:601539 |
OMIM ClinVar |
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16141001 PMID:17055079 PMID:19105186 PMID:19877282 PMID:20952722 PMID:21031596 PMID:21846392 PMID:22871920 PMID:23757202 PMID:24503136 PMID:25133751 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26643206 PMID:27090541 PMID:27353947 PMID:27848944 PMID:27872819 PMID:27882258 PMID:28468868 PMID:28492532 PMID:30362618 PMID:31374812 |
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NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
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G |
Pex12 |
peroxisomal biogenesis factor 12 |
|
ISO |
ClinVar Annotator: match by term: Infantile Refsum's disease |
ClinVar |
PMID:2122101 PMID:9090384 PMID:9632816 PMID:9792857 PMID:10527683 PMID:10562279 PMID:10837480 PMID:11370741 PMID:14571262 PMID:14630978 PMID:15184617 PMID:15542397 PMID:17534573 PMID:19105186 PMID:19127411 PMID:19877282 PMID:21031596 PMID:21465523 PMID:22471590 PMID:24033266 PMID:24627108 PMID:25287621 PMID:25326635 PMID:25741868 PMID:26094004 PMID:26643206 PMID:27124789 PMID:27763634 PMID:28492532 PMID:29389947 |
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NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
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G |
Pex2 |
peroxisomal biogenesis factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10528859 |
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NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
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G |
Pex26 |
peroxisomal biogenesis factor 26 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12851857 |
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NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:7719337 PMID:25741868 PMID:26344566 PMID:28492532 |
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NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
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G |
Pex6 |
peroxisomal biogenesis factor 6 |
|
ISO |
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL |
ClinVar |
PMID:16530715 PMID:19105186 PMID:19877282 PMID:21031596 PMID:25079577 PMID:25741868 PMID:26387595 PMID:26943801 PMID:27302843 PMID:27848944 PMID:28492532 PMID:31831025 |
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NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
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G |
Phb2 |
prohibitin 2 |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,230,769...157,235,375
Ensembl chr 4:157,230,769...157,235,367
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G |
Pianp |
PILR alpha associated neural protein |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,508,862...157,517,676
Ensembl chr 4:157,511,642...157,517,669
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G |
Ptms |
parathymosin |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,435,371...157,439,507
Ensembl chr 4:157,435,373...157,439,507
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G |
Ptpn6 |
protein tyrosine phosphatase, non-receptor type 6 |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
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G |
Scnn1a |
sodium channel epithelial 1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
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G |
Tapbpl |
TAP binding protein-like |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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G |
Tpi1 |
triosephosphate isomerase 1 |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
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G |
Usp5 |
ubiquitin specific peptidase 5 |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,332,735...157,347,803
Ensembl chr 4:157,332,740...157,347,803
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G |
Vamp1 |
vesicle-associated membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,726,941...157,733,644
Ensembl chr 4:157,726,941...157,733,643
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G |
Zfp384 |
zinc finger protein 384 |
|
ISO |
ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,523,083...157,552,606
Ensembl chr 4:157,523,110...157,552,596
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G |
Crp |
C-reactive protein |
disease_progression |
ISO |
|
RGD |
PMID:7780142 |
RGD:9585642 |
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12477733 |
|
NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
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G |
Mmab |
metabolism of cobalamin associated B |
|
ISO |
ClinVar Annotator: match by term: Mevalonic aciduria ClinVar Annotator: match by term: Hyperimmunoglobulinemia D |
ClinVar |
PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr12:47,920,712...47,935,438
Ensembl chr12:47,920,743...47,935,525
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G |
Mvk |
mevalonate kinase |
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ISO |
ClinVar Annotator: match by term: Mevalonate kinase deficiency ClinVar Annotator: match by term: Mevalonic aciduria ClinVar Annotator: match by term: Hyperimmunoglobulinemia D ClinVar Annotator: match by term: Periodic fever Dutch type CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:260920 ClinVar Annotator: match by OMIM:610377 |
OMIM ClinVar CTD |
PMID:1377680 PMID:8386351 PMID:9334262 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 PMID:10896296 PMID:11111075 PMID:11313768 PMID:11313769 PMID:12387810 PMID:12444096 PMID:12477733 PMID:12563048 PMID:12634869 PMID:13130485 PMID:15188372 PMID:15457465 PMID:15536479 PMID:15804303 PMID:16255052 PMID:16435210 PMID:16707534 PMID:16835861 PMID:17105862 PMID:17596604 PMID:18008182 PMID:18414213 PMID:19011501 PMID:19786432 PMID:19877056 PMID:20194276 PMID:21228398 PMID:21399979 PMID:21425920 PMID:21478439 PMID:21548022 PMID:21708801 PMID:22038276 PMID:22246419 PMID:22983302 PMID:23006543 PMID:23146290 PMID:23692791 PMID:23707710 PMID:23834120 PMID:23979089 PMID:23998246 PMID:24033266 PMID:24073415 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24531851 PMID:24561416 PMID:25708585 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26299986 PMID:26386126 PMID:26633545 PMID:26935981 PMID:26977311 PMID:27012807 PMID:27142780 PMID:27213830 PMID:27377765 PMID:28095071 PMID:28492532 PMID:28501347 PMID:29047407 PMID:30148429 |
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NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
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Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:7780142 |
RGD:9585642 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
Acox1 |
acyl-CoA oxidase 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar Annotator: match by term: ACOX1-related condition ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar Annotator: match by OMIM:264470 |
OMIM ClinVar |
PMID:2894756 PMID:8040306 PMID:8279468 PMID:11815777 PMID:17458872 PMID:18536048 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26965209 PMID:28492532 PMID:32169171 |
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NCBI chr10:104,724,534...104,748,003
Ensembl chr10:104,722,958...104,748,050
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G |
Ten1 |
TEN1 subunit of CST complex |
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ISO |
ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy |
ClinVar |
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NCBI chr10:105,073,077...105,095,094
Ensembl chr10:105,073,077...105,095,094
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Peroxisome biogenesis disorders |
CTD ClinVar |
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:9539740 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16141001 PMID:17055079 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21846392 PMID:22871920 PMID:23757202 PMID:24503136 PMID:25412400 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26387595 PMID:26643206 PMID:27090541 PMID:27872819 PMID:27882258 PMID:28468868 PMID:28492532 PMID:30362618 PMID:31319225 PMID:31374812 |
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NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
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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 disorders |
CTD ClinVar |
PMID:9683594 PMID:9700193 PMID:10862081 PMID:12794690 PMID:17041890 PMID:19142205 PMID:21031596 PMID:28492532 |
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NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
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G |
Pex12 |
peroxisomal biogenesis factor 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9090384 |
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NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
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G |
Pex13 |
peroxisomal biogenesis factor 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10332040 PMID:10441568 PMID:19449432 |
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NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
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G |
Pex14 |
peroxisomal biogenesis factor 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15146459 PMID:18285423 PMID:20647552 |
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NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
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G |
Pex16 |
peroxisomal biogenesis factor 16 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11890679 PMID:12223482 |
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NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
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G |
Pex19 |
peroxisomal biogenesis factor 19 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20683989 |
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NCBI chr13:90,514,324...90,530,825
Ensembl chr13:90,514,336...90,530,349
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G |
Pex2 |
peroxisomal biogenesis factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1546315 PMID:10528859 |
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NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
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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 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
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G |
Pex3 |
peroxisomal biogenesis factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10942428 |
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NCBI chr 1:7,685,209...7,726,238
Ensembl chr 1:7,685,338...7,726,401
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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 |
CTD ClinVar |
PMID:8940266 PMID:10408779 PMID:11873320 PMID:19105186 PMID:19877282 PMID:27302843 PMID:28492532 PMID:29220678 |
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NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
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G |
Pex3 |
peroxisomal biogenesis factor 3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10A ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) |
OMIM ClinVar |
PMID:7562283 PMID:10942428 PMID:10958759 PMID:10968777 PMID:25741868 PMID:28492532 |
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NCBI chr 1:7,685,209...7,726,238
Ensembl chr 1:7,685,338...7,726,401
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G |
Pex3 |
peroxisomal biogenesis factor 3 |
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ISO |
ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 10B ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10b |
ClinVar OMIM |
PMID:25741868 PMID:27557811 |
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NCBI chr 1:7,685,209...7,726,238
Ensembl chr 1:7,685,338...7,726,401
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G |
Pex13 |
peroxisomal biogenesis factor 13 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) ClinVar Annotator: match by OMIM:614883 |
OMIM ClinVar |
PMID:10332040 PMID:19449432 PMID:21031596 PMID:25741868 PMID:28492532 |
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NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
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G |
Pus10 |
pseudouridine synthase 10 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:108,411,941...108,479,696
Ensembl chr14:108,412,152...108,479,781
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G |
Pex13 |
peroxisomal biogenesis factor 13 |
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ISO |
ClinVar Annotator: match by OMIM:614885 |
OMIM ClinVar |
PMID:9480815 PMID:10332040 PMID:10441568 PMID:17041890 |
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NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
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G |
Pex19 |
peroxisomal biogenesis factor 19 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) ClinVar Annotator: match by OMIM:614886 |
OMIM ClinVar |
PMID:10051604 PMID:20683989 PMID:25741868 PMID:28281558 PMID:28492532 |
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NCBI chr13:90,514,324...90,530,825
Ensembl chr13:90,514,336...90,530,349
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G |
Pex14 |
peroxisomal biogenesis factor 14 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 13A ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) |
OMIM ClinVar |
PMID:15146459 PMID:18285423 PMID:25741868 PMID:28492532 |
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NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
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G |
Pex11b |
peroxisomal biogenesis factor 11 beta |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 14B ClinVar Annotator: match by OMIM:614920 |
OMIM ClinVar |
PMID:22581968 PMID:25741868 PMID:31724321 |
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NCBI chr 2:198,762,138...198,771,040
Ensembl chr 2:198,762,138...198,771,026
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G |
Gatad1 |
GATA zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a |
ClinVar |
PMID:9398847 PMID:9398848 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:25326635 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:28446956 PMID:28492532 PMID:30733538 PMID:30755224 PMID:31374812 PMID:31831025 |
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NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a |
OMIM ClinVar |
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 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:17055079 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:26387595 PMID:26467025 PMID:26594346 PMID:26643206 PMID:27090541 PMID:27231023 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:27872819 PMID:27882258 PMID:28446956 PMID:28454995 PMID:28468868 PMID:28492532 PMID:30362618 PMID:30561787 PMID:30733538 PMID:30755224 PMID:31374812 PMID:31831025 PMID:32214227 |
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NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
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G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
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NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
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G |
Pex12 |
peroxisomal biogenesis factor 12 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
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NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
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G |
Pex13 |
peroxisomal biogenesis factor 13 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
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NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
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G |
Pex14 |
peroxisomal biogenesis factor 14 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
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NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
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G |
Pex16 |
peroxisomal biogenesis factor 16 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
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NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
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G |
Pex19 |
peroxisomal biogenesis factor 19 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
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NCBI chr13:90,514,324...90,530,825
Ensembl chr13:90,514,336...90,530,349
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G |
Pex2 |
peroxisomal biogenesis factor 2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
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G |
Pex26 |
peroxisomal biogenesis factor 26 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
PMID:16257970 PMID:25741868 PMID:28492532 |
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NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
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G |
Pex3 |
peroxisomal biogenesis factor 3 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
PMID:7562283 PMID:10958759 PMID:10968777 PMID:25741868 |
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NCBI chr 1:7,685,209...7,726,238
Ensembl chr 1:7,685,338...7,726,401
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
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G |
Pex6 |
peroxisomal biogenesis factor 6 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
PMID:10408779 PMID:19877282 PMID:25525159 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
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G |
Plch2 |
phospholipase C, eta 2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
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NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
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G |
Pus10 |
pseudouridine synthase 10 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
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NCBI chr14:108,411,941...108,479,696
Ensembl chr14:108,412,152...108,479,781
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G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) |
ClinVar |
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NCBI chr 5:172,476,746...172,488,822
Ensembl chr 5:172,476,747...172,488,822
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2A (Zellweger) ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2a (zellweger) |
OMIM ClinVar |
PMID:7719337 PMID:25741868 PMID:26344566 PMID:28492532 |
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NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
|
ISO |
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OMIM |
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NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
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G |
Pex12 |
peroxisomal biogenesis factor 12 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A |
OMIM ClinVar |
PMID:9090384 PMID:9354782 PMID:9632816 PMID:9792857 PMID:10527683 PMID:10562279 PMID:10837480 PMID:12032265 PMID:14571262 PMID:14630978 PMID:15184617 PMID:15241794 PMID:15542397 PMID:17534573 PMID:19105186 PMID:19127411 PMID:19877282 PMID:21031596 PMID:21465523 PMID:24033266 PMID:24627108 PMID:25287621 PMID:25326635 PMID:25741868 PMID:26094004 PMID:27124789 PMID:28492532 PMID:29389947 |
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NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
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G |
Pex12 |
peroxisomal biogenesis factor 12 |
|
ISO |
ClinVar Annotator: match by term: Peroxisomal biogenesis disorder 3b |
OMIM ClinVar |
PMID:2122101 PMID:9632816 PMID:9792857 PMID:10527683 PMID:10562279 PMID:10837480 PMID:12032265 PMID:14571262 PMID:15184617 PMID:15241794 PMID:15542397 PMID:19127411 PMID:21031596 PMID:21465523 PMID:24627108 PMID:25741868 PMID:28492532 |
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NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
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G |
Pex6 |
peroxisomal biogenesis factor 6 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4a (zellweger) ClinVar Annotator: match by OMIM:614862 |
OMIM ClinVar |
PMID:8670792 PMID:8940266 PMID:10408779 PMID:11004248 PMID:11355018 PMID:15542397 PMID:15858711 PMID:16530715 PMID:17190851 PMID:19105186 PMID:19142205 PMID:19877282 PMID:21031596 PMID:22871920 PMID:22894767 PMID:23757202 PMID:24016303 PMID:24459294 PMID:25079577 PMID:25525159 PMID:25741868 PMID:26094004 PMID:26275793 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26593283 PMID:26700162 PMID:26943801 PMID:27302843 PMID:27848944 PMID:28492532 PMID:29220678 PMID:31831025 PMID:32399598 |
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NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
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G |
Pex6 |
peroxisomal biogenesis factor 6 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4B ClinVar Annotator: match by OMIM:614863 |
OMIM ClinVar |
PMID:3515938 PMID:11355018 PMID:15542397 PMID:16530715 PMID:19105186 PMID:19142205 PMID:19877282 PMID:21031596 PMID:21937992 PMID:22871920 PMID:24016303 PMID:25079577 PMID:25741868 PMID:26275793 PMID:26387595 PMID:26943801 PMID:27302843 PMID:27848944 PMID:28492532 PMID:29220678 PMID:31831025 |
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NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
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G |
Pex2 |
peroxisomal biogenesis factor 2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5a (zellweger) ClinVar Annotator: match by OMIM:614866 |
OMIM ClinVar |
PMID:1546315 PMID:2454948 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:25741868 PMID:28089346 PMID:28492532 PMID:32860008 |
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NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
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G |
Pex2 |
peroxisomal biogenesis factor 2 |
|
ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5B ClinVar Annotator: match by OMIM:614867 |
OMIM ClinVar |
PMID:1546315 PMID:2454948 PMID:7541833 PMID:7681622 PMID:7931872 PMID:9452066 PMID:9585609 PMID:10528859 PMID:14630978 PMID:15542397 PMID:21031596 PMID:21392394 PMID:21465523 PMID:23430938 PMID:23590336 PMID:23829372 PMID:25741868 PMID:28089346 PMID:28492532 |
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NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
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Pex10 |
peroxisomal biogenesis factor 10 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) |
OMIM ClinVar |
PMID:7565793 PMID:9683594 PMID:9700193 PMID:10862081 PMID:12794690 PMID:15542397 PMID:17041890 PMID:17702006 PMID:19105186 PMID:19127411 PMID:19142205 PMID:20695019 PMID:21031596 PMID:24033266 PMID:25179809 PMID:25525159 PMID:25741868 PMID:26319495 PMID:27230853 PMID:28492532 PMID:30640048 |
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NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
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Plch2 |
phospholipase C, eta 2 |
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ISO |
ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) |
ClinVar |
PMID:20695019 PMID:21031596 PMID:25179809 |
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NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
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Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A |
ClinVar |
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NCBI chr 5:172,476,746...172,488,822
Ensembl chr 5:172,476,747...172,488,822
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Pex10 |
peroxisomal biogenesis factor 10 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6B ClinVar Annotator: match by OMIM:614871 |
OMIM ClinVar |
PMID:8982949 PMID:9683594 PMID:9700193 PMID:10862081 PMID:12794690 PMID:15542397 PMID:17041890 PMID:17702006 PMID:19105186 PMID:19127411 PMID:19142205 PMID:20695019 PMID:21031596 PMID:21465523 PMID:25525159 PMID:26319495 PMID:27230853 PMID:28492532 PMID:30640048 |
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NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
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Plch2 |
phospholipase C, eta 2 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6B |
ClinVar |
PMID:15542397 PMID:20695019 PMID:21031596 PMID:21465523 |
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NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
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Mical3 |
microtubule associated monooxygenase, calponin and LIM domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A |
ClinVar |
PMID:28492532 |
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NCBI chr 4:153,484,876...153,631,986
Ensembl chr 4:153,484,876...153,593,773
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G |
Pex26 |
peroxisomal biogenesis factor 26 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) ClinVar Annotator: match by OMIM:614872 |
OMIM ClinVar |
PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 PMID:16257970 PMID:17336976 PMID:19877282 PMID:25016021 PMID:25741868 PMID:26287655 PMID:26627908 PMID:28492532 PMID:28944237 |
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NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
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Pex26 |
peroxisomal biogenesis factor 26 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7B ClinVar Annotator: match by OMIM:614873 |
OMIM ClinVar |
PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 PMID:16257970 PMID:19877282 PMID:25016021 PMID:25741868 PMID:26287655 PMID:26627908 PMID:28492532 PMID:28944237 |
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NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
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Mmut |
methylmalonyl-CoA mutase |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A |
ClinVar |
PMID:25741868 |
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NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
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Pex16 |
peroxisomal biogenesis factor 16 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A |
OMIM ClinVar |
PMID:9837814 PMID:11890679 PMID:25741868 PMID:28492532 |
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NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
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Pex16 |
peroxisomal biogenesis factor 16 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8B ClinVar Annotator: match by OMIM:614877 |
OMIM ClinVar |
PMID:20647552 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26633545 PMID:28492532 PMID:30078639 PMID:31227335 |
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NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
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Pex10 |
peroxisomal biogenesis factor 10 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 |
ClinVar |
PMID:9683594 PMID:9700193 PMID:10862081 PMID:12794690 PMID:15542397 PMID:17041890 PMID:17702006 PMID:19105186 PMID:19127411 PMID:19142205 PMID:20695019 PMID:21031596 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26319495 PMID:27230853 PMID:28492532 PMID:30640048 |
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NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
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Pex14 |
peroxisomal biogenesis factor 14 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K |
ClinVar |
PMID:15146459 PMID:18285423 PMID:25741868 PMID:26627464 PMID:28492532 |
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NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
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Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
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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:27290639 PMID:28492532 |
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NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
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Pex7 |
peroxisomal biogenesis factor 7 |
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ISO |
ClinVar Annotator: match by OMIM:266500 ClinVar Annotator: match by term: Phytanic acid storage disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:1773541 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9686382 PMID:10083738 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12325024 PMID:12522768 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:23572185 PMID:25741868 PMID:25800479 PMID:26467025 PMID:26587300 PMID:28492532 |
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NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
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Phyh |
phytanoyl-CoA 2-hydroxylase |
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ISO |
ClinVar Annotator: match by term: Phytanic acid storage disease ClinVar Annotator: match by OMIM:266500 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1155634 PMID:9326939 PMID:9326940 PMID:9657395 PMID:10767344 PMID:11555634 PMID:12522768 PMID:14974078 PMID:16186124 PMID:17905308 PMID:18612766 PMID:20818383 PMID:24033266 PMID:25472526 PMID:25741868 PMID:27229527 PMID:28041643 PMID:28492532, PMID:10709665, PMID:19004801 |
RGD:13831337, RGD:13831313 |
NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
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Agps |
alkylglycerone phosphate synthase |
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ISO |
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532, PMID:9553082 |
RGD:1300366 |
NCBI chr 3:62,648,352...62,749,250
Ensembl chr 3:62,648,447...62,749,153
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Gnpat |
glyceronephosphate O-acyltransferase |
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ISO |
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:57,614,813...57,640,524
Ensembl chr19:57,614,628...57,640,726
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Pex5 |
peroxisomal biogenesis factor 5 |
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ISO |
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata |
ClinVar |
PMID:26220973 |
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NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
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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: Rhizomelic chondrodysplasia punctata ClinVar Annotator: match by term: Chondrodysplasia punctata rhizomelic form |
CTD ClinVar |
PMID:1773541 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9686382 PMID:10083738 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12325024 PMID:12522768 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:23572185 PMID:25741868 PMID:25800479 PMID:26408048 PMID:26587300 PMID:28492532 |
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NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
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Pex7 |
peroxisomal biogenesis factor 7 |
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ISO |
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:215100 |
OMIM ClinVar CTD |
PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9472033 PMID:9686382 PMID:10083738 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12325024 PMID:12522768 PMID:14974078 PMID:17325280 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:22057399 PMID:23352163 PMID:23572185 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26408048 PMID:26467025 PMID:26587300 PMID:28492532, PMID:12915479 |
RGD:13208515 |
NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
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Gnpat |
glyceronephosphate O-acyltransferase |
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ISO |
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 2 ClinVar Annotator: match by OMIM:222765 |
OMIM ClinVar |
PMID:1405476 PMID:7530787 PMID:9536089 PMID:9843043 PMID:11152660 PMID:21990100 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr19:57,614,813...57,640,524
Ensembl chr19:57,614,628...57,640,726
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G |
Agps |
alkylglycerone phosphate synthase |
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ISO |
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 3 ClinVar Annotator: match by OMIM:600121 |
OMIM ClinVar |
PMID:7807941 PMID:9553082 PMID:11152660 PMID:18414213 PMID:21990100 PMID:25741868 PMID:28492532 |
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NCBI chr 3:62,648,352...62,749,250
Ensembl chr 3:62,648,447...62,749,153
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
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ISO |
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 |
OMIM ClinVar |
PMID:26220973 |
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NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
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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:11389485 PMID:16086329 PMID:16141001 PMID:21031596 PMID:25741868 PMID:28492532 |
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NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
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ISO |
ClinVar Annotator: match by term: Zellweger leukodystrophy |
ClinVar |
PMID:9398847 PMID:11389485 PMID:16086329 PMID:16141001 PMID:21031596 PMID:25741868 PMID:28468868 PMID:28492532 |
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NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
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G |
Abcd3 |
ATP binding cassette subfamily D member 3 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:1301993, PMID:1301993 |
RGD:1598658, RGD:1598658 |
NCBI chr 2:225,335,708...225,389,120
Ensembl chr 2:225,335,718...225,389,120
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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 9:16,543,715...16,558,441
Ensembl chr 9:16,543,688...16,558,456
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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 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
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G |
Gatad1 |
GATA zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar Annotator: match by term: Zellweger syndrome ClinVar Annotator: match by term: Zellweger Spectrum |
ClinVar |
PMID:9398847 PMID:9398848 PMID:10447258 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:19105186 PMID:21031596 PMID:21844578 PMID:21846392 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27469511 PMID:27848944 PMID:28492532 PMID:30755224 |
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NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
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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:11810299 PMID:28492532 |
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NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
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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 chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
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G |
Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:21888010 |
RGD:14747040 |
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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G |
Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
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ISO |
DNA:deletions, missense mutations, nonsense mutation: exon:multiple |
RGD |
PMID:16141001 |
RGD:11062374 |
NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
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ISO |
ClinVar Annotator: match by OMIM:214100 ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar Annotator: match by term: Zellweger syndrome ClinVar Annotator: match by term: Zellweger Spectrum DNA:SNP:exon 15: c.2531G>A (p. G844D) (mouse) DNA:missense mutation:exon 15: p.G844D (c.2531G>A) (mouse) CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 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:17055079 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:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26319495 PMID:26387595 PMID:26467025 PMID:26643206 PMID:27090541 PMID:27231023 PMID:27469511 PMID:27848944 PMID:27872819 PMID:27882258 PMID:28454995 PMID:28468868 PMID:28492532 PMID:28857144 PMID:30362618 PMID:30561787 PMID:30755224 PMID:31374812, PMID:31207289, PMID:24503136 |
RGD:25671426, RGD:25671425 |
NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
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Pex10 |
peroxisomal biogenesis factor 10 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Zellweger syndrome ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
CTD ClinVar |
PMID:9683594 PMID:9700193 PMID:10862081 PMID:12794690 PMID:15542397 PMID:17041890 PMID:17702006 PMID:19105186 PMID:19127411 PMID:19142205 PMID:20695019 PMID:21031596 PMID:21465523 PMID:25525159 PMID:25741868 PMID:26319495 PMID:28492532 PMID:30640048 |
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NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
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G |
Pex11b |
peroxisomal biogenesis factor 11 beta |
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ISS |
OMIM:214100 |
MouseDO |
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NCBI chr 2:198,762,138...198,771,040
Ensembl chr 2:198,762,138...198,771,026
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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 disorders, Zellweger syndrome spectrum |
CTD ClinVar |
PMID:9090384 PMID:9632816 PMID:9792857 PMID:10527683 PMID:10837480 PMID:14571262 PMID:14630978 PMID:15184617 PMID:15542397 PMID:19105186 PMID:19127411 PMID:19877282 PMID:21031596 PMID:21465523 PMID:24627108 PMID:25287621 PMID:25741868 PMID:26094004 PMID:26319495 PMID:28492532 PMID:29389947 |
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NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
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G |
Pex13 |
peroxisomal biogenesis factor 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10332040 PMID:19449432 |
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NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
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G |
Pex14 |
peroxisomal biogenesis factor 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15146459 PMID:18285423 |
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NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
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G |
Pex16 |
peroxisomal biogenesis factor 16 |
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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 syndrome |
CTD ClinVar |
PMID:11890679 PMID:25326635 PMID:25741868 PMID:28492532 PMID:30078639 PMID:31227335 |
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NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
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G |
Pex19 |
peroxisomal biogenesis factor 19 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10051604 |
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NCBI chr13:90,514,324...90,530,825
Ensembl chr13:90,514,336...90,530,349
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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 syndrome ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum |
CTD ClinVar |
PMID:1546315 PMID:2454948 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:25741868 PMID:28089346 PMID:28492532, PMID:9288097, PMID:9382874 |
RGD:13207457, RGD:13207456 |
NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
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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 ClinVar Annotator: match by term: Zellweger syndrome |
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 |
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NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
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G |
Pex3 |
peroxisomal biogenesis factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10942428 |
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NCBI chr 1:7,685,209...7,726,238
Ensembl chr 1:7,685,338...7,726,401
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Pex5 |
peroxisomal biogenesis factor 5 |
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ISO |
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RGD |
PMID:11583975, PMID:28866057, PMID:9288097 |
RGD:25440483, RGD:25440485, RGD:13207457 |
NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
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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 syndrome |
CTD ClinVar |
PMID:8670792 PMID:8940266 PMID:10408779 PMID:11355018 PMID:11810299 PMID:11873320 PMID:15542397 PMID:15858711 PMID:16530715 PMID:17190851 PMID:19105186 PMID:19142205 PMID:19877282 PMID:21031596 PMID:21520333 PMID:22871920 PMID:23757202 PMID:24016303 PMID:24033266 PMID:24459294 PMID:25079577 PMID:25525159 PMID:25741868 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26669662 PMID:26700162 PMID:26943801 PMID:27302843 PMID:27779215 PMID:27848944 PMID:28492532 PMID:29220678 PMID:31831025 PMID:32399598 |
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NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
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Phyh |
phytanoyl-CoA 2-hydroxylase |
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ISO |
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RGD |
PMID:8954107, PMID:10709665 |
RGD:13831312, RGD:13831337 |
NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
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Plch2 |
phospholipase C, eta 2 |
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ISO |
ClinVar Annotator: match by term: Zellweger syndrome |
ClinVar |
PMID:15542397 PMID:21465523 |
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NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
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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 9:16,580,995...16,610,425
Ensembl chr 9:16,586,803...16,609,631
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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 9:16,528,970...16,539,383
Ensembl chr 9:16,529,579...16,539,472
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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 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
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Abcd3 |
ATP binding cassette subfamily D member 3 |
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ISO |
ClinVar Annotator: match by term: Zellweger syndrome 2 |
ClinVar |
PMID:1301993 PMID:9199576 PMID:10447258 |
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NCBI chr 2:225,335,708...225,389,120
Ensembl chr 2:225,335,718...225,389,120
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