Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:peroxisomal disease
go back to main search page
Accession:DOID:906 term browser browse the term
Definition:A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
Synonyms:exact_synonym: Adrenoleukodystrophy, Autosomal Neonatal Form;   General Peroxisomal Dysfunction;   General Peroxisomal Dysfunctions;   Hyperpipecolatemia;   Hyperpipecolic Acidemia;   Hyperpipecolic Acidemias;   Multiple Peroxisomal Dysfunction;   Multiple Peroxisomal Dysfunctions;   Neonatal Adrenoleukodystrophies;   Neonatal Adrenoleukodystrophy;   Peroxisomal Disorder;   Peroxisomal Disorders;   Single Peroxisomal Dysfunction;   Single Peroxisomal Dysfunctions
 primary_id: MESH:D018901;   RDO:0002308
 xref: ICD10CM:E71.5;   ICD9CM:277.86;   NCI:C125593;   NCI:C85005;   NCI:C99251
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
peroxisomal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
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 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
acatalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,873,094...156,888,762
Ensembl chr  X:156,873,849...156,888,761
JBrowse link
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
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,889,006...156,892,707
Ensembl chr  X:156,889,410...156,891,213
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:156,392,646...156,399,763
Ensembl chr  X:156,392,630...156,399,760
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
Adult Refsum Disease, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
Adult Refsum Disease, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
alpha-methylacyl-CoA racemase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar NCBI chr 2:60,966,671...60,999,398
Ensembl chr 2:60,966,789...60,999,398
JBrowse link
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndrg1 N-myc downstream regulated 1 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 NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
JBrowse link
congenital bile acid synthesis defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase 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 NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
Heimler syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 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 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 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 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
Heimler syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex6 peroxisomal biogenesis factor 6 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 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
infantile Refsum disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,563,990...157,577,045
Ensembl chr 4:157,563,990...157,568,023
JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 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
JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,108,190...157,122,689
Ensembl chr 4:157,107,469...157,123,446
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,744,881...157,751,609
Ensembl chr 4:157,744,882...157,750,088
JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,347,876...157,351,889
Ensembl chr 4:157,348,020...157,351,604
JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,612,531...157,645,660
Ensembl chr 4:157,612,536...157,645,659
JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,044,736...157,078,013
Ensembl chr 4:157,043,925...157,078,130
JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,479,549...157,486,944
Ensembl chr 4:157,479,549...157,486,914
JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647
JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gatad1 GATA zinc finger domain containing 1 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 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,375,184...157,381,780
Ensembl chr 4:157,375,184...157,381,105
JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,264,383...157,266,042
Ensembl chr 4:157,264,383...157,266,018
JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,659,115...157,676,335
Ensembl chr 4:157,659,147...157,676,331
JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,554,729...157,563,353
Ensembl chr 4:157,554,794...157,563,352
JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,425,644...157,433,700
Ensembl chr 4:157,425,644...157,433,467
JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,581,000...157,596,454
Ensembl chr 4:157,594,436...157,595,972
JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,181,722...157,222,997
Ensembl chr 4:157,181,795...157,222,996
JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,294,386...157,304,590
Ensembl chr 4:157,294,287...157,304,653
JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,822,838...157,829,291
Ensembl chr 4:157,822,840...157,829,241
JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,236,346...157,236,439
Ensembl chr 4:157,236,346...157,236,439
JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,236,786...157,236,854 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,452,578...157,457,254
Ensembl chr 4:157,452,607...157,457,249
JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,705,790...157,709,452
Ensembl chr 4:157,705,790...157,708,748
JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,682,855...157,705,903
Ensembl chr 4:157,683,077...157,704,596
JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,646,759...157,658,502
Ensembl chr 4:157,647,082...157,658,390
JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,359,331...157,375,186
Ensembl chr 4:157,359,332...157,372,861
JBrowse link
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 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
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 NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10528859 NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
JBrowse link
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
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:7719337 PMID:25741868 PMID:26344566 PMID:28492532 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
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 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,230,769...157,235,375
Ensembl chr 4:157,230,769...157,235,367
JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,508,862...157,517,676
Ensembl chr 4:157,511,642...157,517,669
JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,435,371...157,439,507
Ensembl chr 4:157,435,373...157,439,507
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
JBrowse link
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
JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Neonatal adrenoleucodystrophy ClinVar PMID:28492532 NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
mevalonic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
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 NCBI chr12:47,920,712...47,935,438
Ensembl chr12:47,920,743...47,935,525
JBrowse link
G Mvk mevalonate kinase 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 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Tnf tumor necrosis factor 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
JBrowse link
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 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 NCBI chr10:104,724,534...104,748,003
Ensembl chr10:104,722,958...104,748,050
JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar NCBI chr10:105,073,077...105,095,094
Ensembl chr10:105,073,077...105,095,094
JBrowse link
peroxisomal biogenesis disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex1 peroxisomal biogenesis factor 1 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 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 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 NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9090384 NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10332040 PMID:10441568 PMID:19449432 NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146459 PMID:18285423 PMID:20647552 NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11890679 PMID:12223482 NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20683989 NCBI chr13:90,514,324...90,530,825
Ensembl chr13:90,514,336...90,530,349
JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1546315 PMID:10528859 NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
JBrowse link
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
JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10942428 NCBI chr 1:7,685,209...7,726,238
Ensembl chr 1:7,685,338...7,726,401
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 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 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
peroxisome biogenesis disorder 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex3 peroxisomal biogenesis factor 3 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 NCBI chr 1:7,685,209...7,726,238
Ensembl chr 1:7,685,338...7,726,401
JBrowse link
Peroxisome Biogenesis Disorder 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex3 peroxisomal biogenesis factor 3 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 NCBI chr 1:7,685,209...7,726,238
Ensembl chr 1:7,685,338...7,726,401
JBrowse link
peroxisome biogenesis disorder 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A
ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
ClinVar Annotator: match by OMIM:614883
OMIM
ClinVar
PMID:10332040 PMID:19449432 PMID:21031596 PMID:25741868 PMID:28492532 NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A ClinVar PMID:25741868 PMID:28492532 NCBI chr14:108,411,941...108,479,696
Ensembl chr14:108,412,152...108,479,781
JBrowse link
Peroxisome Biogenesis Disorder 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by OMIM:614885 OMIM
ClinVar
PMID:9480815 PMID:10332040 PMID:10441568 PMID:17041890 NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
peroxisome biogenesis disorder 12A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A
ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
ClinVar Annotator: match by OMIM:614886
OMIM
ClinVar
PMID:10051604 PMID:20683989 PMID:25741868 PMID:28281558 PMID:28492532 NCBI chr13:90,514,324...90,530,825
Ensembl chr13:90,514,336...90,530,349
JBrowse link
peroxisome biogenesis disorder 13A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex14 peroxisomal biogenesis factor 14 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 NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
JBrowse link
Peroxisome Biogenesis Disorder 14B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 14B
ClinVar Annotator: match by OMIM:614920
OMIM
ClinVar
PMID:22581968 PMID:25741868 PMID:31724321 NCBI chr 2:198,762,138...198,771,040
Ensembl chr 2:198,762,138...198,771,026
JBrowse link
peroxisome biogenesis disorder 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 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 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger)
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a
OMIM
ClinVar
PMID:1301993 PMID:2063923 PMID: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 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr13:90,514,324...90,530,825
Ensembl chr13:90,514,336...90,530,349
JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:16257970 PMID:25741868 PMID:28492532 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
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 NCBI chr 1:7,685,209...7,726,238
Ensembl chr 1:7,685,338...7,726,401
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:10408779 PMID:19877282 PMID:25525159 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr14:108,411,941...108,479,696
Ensembl chr14:108,412,152...108,479,781
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:172,476,746...172,488,822
Ensembl chr 5:172,476,747...172,488,822
JBrowse link
peroxisome biogenesis disorder 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex5 peroxisomal biogenesis factor 5 ISO OMIM NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
peroxisome biogenesis disorder 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
JBrowse link
Peroxisome Biogenesis Disorder 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
JBrowse link
peroxisome biogenesis disorder 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
Peroxisome Biogenesis Disorder 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
peroxisome biogenesis disorder 5A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
JBrowse link
Peroxisome Biogenesis Disorder 5B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
JBrowse link
peroxisome biogenesis disorder 6A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex10 peroxisomal biogenesis factor 10 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 NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) ClinVar PMID:20695019 PMID:21031596 PMID:25179809 NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A ClinVar NCBI chr 5:172,476,746...172,488,822
Ensembl chr 5:172,476,747...172,488,822
JBrowse link
Peroxisome Biogenesis Disorder 6B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex10 peroxisomal biogenesis factor 10 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 NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6B ClinVar PMID:15542397 PMID:20695019 PMID:21031596 PMID:21465523 NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
JBrowse link
peroxisome biogenesis disorder 7A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A ClinVar PMID:28492532 NCBI chr 4:153,484,876...153,631,986
Ensembl chr 4:153,484,876...153,593,773
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 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 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
Peroxisome Biogenesis Disorder 7B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex26 peroxisomal biogenesis factor 26 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 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
peroxisome biogenesis disorder 8A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmut methylmalonyl-CoA mutase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A ClinVar PMID:25741868 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A OMIM
ClinVar
PMID:9837814 PMID:11890679 PMID:25741868 PMID:28492532 NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link
Peroxisome Biogenesis Disorder 8B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex16 peroxisomal biogenesis factor 16 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 NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link
Peroxisome Biogenesis Disorder, Complementation Group 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex10 peroxisomal biogenesis factor 10 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 NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
JBrowse link
Peroxisome Biogenesis Disorder, Complementation Group K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K ClinVar PMID:15146459 PMID:18285423 PMID:25741868 PMID:26627464 PMID:28492532 NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
JBrowse link
Pseudo-Zellweger Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO ClinVar Annotator: match by term: Pseudo Zellweger syndrome ClinVar PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 PMID:22864515 PMID:23181892 PMID:24033266 PMID:24108619 PMID:25741868 PMID:25967389 PMID:26970254 PMID:27290639 PMID:28492532 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
Refsum disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 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 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase 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
JBrowse link
rhizomelic chondrodysplasia punctata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agps alkylglycerone phosphate synthase 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
JBrowse link
G Gnpat glyceronephosphate O-acyltransferase ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar PMID:25741868 PMID:28492532 NCBI chr19:57,614,813...57,640,524
Ensembl chr19:57,614,628...57,640,726
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar PMID:26220973 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
G Pex7 peroxisomal biogenesis factor 7 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 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
JBrowse link
rhizomelic chondrodysplasia punctata type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 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
JBrowse link
rhizomelic chondrodysplasia punctata type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnpat glyceronephosphate O-acyltransferase 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 NCBI chr19:57,614,813...57,640,524
Ensembl chr19:57,614,628...57,640,726
JBrowse link
rhizomelic chondrodysplasia punctata type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agps alkylglycerone phosphate synthase 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 NCBI chr 3:62,648,352...62,749,250
Ensembl chr 3:62,648,447...62,749,153
JBrowse link
rhizomelic chondrodysplasia punctata type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 OMIM
ClinVar
PMID:26220973 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
Zellweger Leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:9398847 PMID:11389485 PMID:16086329 PMID:16141001 PMID:21031596 PMID:25741868 PMID:28492532 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 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 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
Zellweger syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
G Cnpy3 canopy FGF signaling regulator 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:28492532 NCBI chr 9:16,543,715...16,558,441
Ensembl chr 9:16,543,688...16,558,456
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO RGD PMID:14673138 RGD:13782195 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
JBrowse link
G Gatad1 GATA zinc finger domain containing 1 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 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Gnmt glycine N-methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:11810299 PMID:28492532 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10343282 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:21888010 RGD:14747040 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO DNA:deletions, missense mutations, nonsense mutation: exon:multiple RGD PMID:16141001 RGD:11062374 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 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
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 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 NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISS OMIM:214100 MouseDO NCBI chr 2:198,762,138...198,771,040
Ensembl chr 2:198,762,138...198,771,026
JBrowse link
G Pex12 peroxisomal biogenesis factor 12 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 NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10332040 PMID:19449432 NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146459 PMID:18285423 NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
ClinVar Annotator: match by term: Zellweger syndrome
CTD
ClinVar
PMID:11890679 PMID:25326635 PMID:25741868 PMID:28492532 PMID:30078639 PMID:31227335 NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10051604 NCBI chr13:90,514,324...90,530,825
Ensembl chr13:90,514,336...90,530,349
JBrowse link
G Pex2 peroxisomal biogenesis factor 2 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
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 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 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10942428 NCBI chr 1:7,685,209...7,726,238
Ensembl chr 1:7,685,338...7,726,401
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO 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
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 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 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO 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
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Zellweger syndrome ClinVar PMID:15542397 PMID:21465523 NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
JBrowse link
G Ppp2r5d protein phosphatase 2, regulatory subunit B', delta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:28492532 NCBI chr 9:16,580,995...16,610,425
Ensembl chr 9:16,586,803...16,609,631
JBrowse link
G Ptcra pre T-cell antigen receptor alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:28492532 NCBI chr 9:16,528,970...16,539,383
Ensembl chr 9:16,529,579...16,539,472
JBrowse link
G Scp2 sterol carrier protein 2 ISO RGD PMID:3555624 RGD:13782196 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
JBrowse link
Zellweger Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd3 ATP binding cassette subfamily D member 3 ISO ClinVar Annotator: match by term: Zellweger syndrome 2 ClinVar PMID:1301993 PMID:9199576 PMID:10447258 NCBI chr 2:225,335,708...225,389,120
Ensembl chr 2:225,335,718...225,389,120
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Nutritional and Metabolic Diseases 4714
      disease of metabolism 4714
        inherited metabolic disorder 2235
          peroxisomal disease 134
            D-bifunctional protein deficiency 1
            Refsum disease + 52
            acatalasia 1
            adrenoleukodystrophy + 51
            alpha-methylacyl-CoA racemase deficiency 2
            congenital bile acid synthesis defect 4 1
            mevalonic aciduria 5
            peroxisomal acyl-CoA oxidase deficiency 2
            peroxisomal biogenesis disorder + 73
            rhizomelic chondrodysplasia punctata + 4
Path 2
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          inherited metabolic disorder 2235
            peroxisomal disease 134
              D-bifunctional protein deficiency 1
              Refsum disease + 52
              acatalasia 1
              adrenoleukodystrophy + 51
              alpha-methylacyl-CoA racemase deficiency 2
              congenital bile acid synthesis defect 4 1
              mevalonic aciduria 5
              peroxisomal acyl-CoA oxidase deficiency 2
              peroxisomal biogenesis disorder + 73
              rhizomelic chondrodysplasia punctata + 4
paths to the root