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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
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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 chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9345094 PMID:16385454 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		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 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO RGD PMID:25176044 RGD:13207455 NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO RGD PMID:15732085 RGD:13207458 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 IMP RGD PMID:7493019 RGD:729462 NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO RGD PMID:9266377 RGD:13831311 NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10642506 NCBI chr10:62,769,874...62,783,484
Ensembl chr10:62,769,900...62,782,370 		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 More... NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		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
RGD		 PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 More... RGD:1598655 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,633,501...151,636,000
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		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:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		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:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,905,096...151,925,322
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,054,547...152,056,757
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:28492532 NCBI chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069 		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 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		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 More... NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748 		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 More... NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317 		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:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:17470135 More... NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880 		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: Congenital bile acid synthesis defect 4
ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 4		 OMIM
ClinVar		 PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 More... NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317 		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
RGD		 PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 More... RGD:1599968, RGD:10411884 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		JBrowse link
glutaric acidemia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sugct succinylCoA:glutarate-CoA transferase ISO ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency ClinVar
OMIM		 PMID:1909402 PMID:12555941 PMID:18926513 PMID:25741868 PMID:28492532 NCBI chr17:47,376,392...48,234,362
Ensembl chr17:47,376,521...48,234,376 		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 Annotator: match by term: Heimler syndrome 1		 ClinVar PMID:9398847 PMID:12402331 PMID:16086329 PMID:16088892 PMID:16141001 More... NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects
ClinVar Annotator: match by term: Heimler syndrome 1		 ClinVar
OMIM		 PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:10384394 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		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:8670792 PMID:11873320 PMID:15542397 PMID:16530715 PMID:19105186 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
infantile Refsum disease 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 1B ClinVar PMID:9398847 PMID:9398848 PMID:12402331 PMID:15542397 PMID:16086329 More... NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107 		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 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Infantile Refsum's disease
ClinVar Annotator: match by term: Infantile Refsum disease		 ClinVar PMID:2122101 PMID:9090384 PMID:9632816 PMID:9792857 PMID:10527683 More... NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428 		JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10528859 NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		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 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		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 chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		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 chr12:42,159,109...42,172,496
Ensembl chr12:42,159,089...42,172,490 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Periodic fever Dutch type
ClinVar Annotator: match by term: Mevalonic aciduria
ClinVar Annotator: match by term: Mevalonate kinase deficiency
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D
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:9536098 PMID:10369261 More... NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:7780142 RGD:9585642 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		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:16199547 More... NCBI chr10:101,406,197...101,431,242
Ensembl chr10:101,406,197...101,431,232 		JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar NCBI chr10:101,431,328...101,455,105
Ensembl chr10:101,431,328...101,453,052 		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 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		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 More... NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9090384 NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10332040 PMID:10441568 PMID:19449432 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146459 PMID:18285423 PMID:20647552 NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11890679 PMID:12223482 NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20683989 NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608 		JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1546315 PMID:10528859 NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10942428 NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518 		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 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		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 More... NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518 		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 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518 		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:16199547 PMID:19449432 PMID:21031596 PMID:25741868 More... NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262 		JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A ClinVar PMID:25741868 PMID:28492532 NCBI chr14:97,621,228...97,684,059
Ensembl chr14:97,621,391...97,684,046 		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 term: Peroxisome biogenesis disorder 11B
ClinVar Annotator: match by OMIM:614885		 OMIM
ClinVar		 PMID:9480815 PMID:10332040 PMID:10441568 PMID:17041890 PMID:25741868 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262 		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:9536098 PMID:10051604 PMID:16199547 PMID:17576681 PMID:20683989 More... NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608 		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 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272 		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 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495 		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 More... NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107 		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 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:28492532 NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608 		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 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404 		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 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		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 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518 		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 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		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 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356 		JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr14:97,621,228...97,684,059
Ensembl chr14:97,621,391...97,684,046 		JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:30,559,063...30,569,409
Ensembl chr 4:30,559,087...30,569,406 		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 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750 		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) OMIM
ClinVar		 PMID:7719337 PMID:9536098 PMID:17576681 PMID:18712838 PMID:21031596 More... NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
peroxisome biogenesis disorder 2B 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: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592 		JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,668,878...157,695,366 JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173 		JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,662,200...157,668,341 JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,551,276...157,552,924 JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302 		JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265 		JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404 		JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,870,493...157,883,970
Ensembl chr 4:157,881,796...157,882,950 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539 		JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332 		JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,523,679...157,523,747 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,739,651...157,744,325
Ensembl chr 4:157,728,756...157,744,317 		JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,991,756...157,994,715
Ensembl chr 4:157,992,408...157,995,414 		JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,932,731...157,944,462
Ensembl chr 4:157,932,716...157,944,459 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,646,238...157,662,035 JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B OMIM
ClinVar		 PMID:7719337 PMID:9536098 PMID:17576681 PMID:18712838 PMID:21031596 More... NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272 		JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,796,425...157,804,842
Ensembl chr 4:157,798,808...157,804,842 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,722,384...157,726,575
Ensembl chr 4:157,722,386...157,727,009 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,612,921...157,615,293
Ensembl chr 4:157,613,401...157,615,284 		JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,021,454...158,028,905 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,619,643...157,634,711
Ensembl chr 4:157,619,643...157,634,711 		JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349 		JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,810,263...157,840,052
Ensembl chr 4:157,810,352...157,839,766 		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:2122101 PMID:9090384 PMID:9354782 PMID:9536098 PMID:9632816 More... NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428 		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:9090384 PMID:9632816 PMID:9792857 PMID:10527683 More... NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428 		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 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		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:8670792 PMID:11355018 PMID:15542397 PMID:16530715 PMID:19105186 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		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:7541833 PMID:7681622 PMID:9452066 PMID:9585609 More... NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404 		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:7541833 PMID:7681622 PMID:7931872 PMID:9452066 More... NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404 		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 More... NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A		 ClinVar PMID:20695019 PMID:21031596 PMID:25179809 PMID:25741868 PMID:28320181 More... NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A ClinVar NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750 		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 More... NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6B ClinVar PMID:9683594 PMID:10862081 PMID:15542397 PMID:19105186 PMID:20695019 More... NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356 		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 4:154,152,776...154,353,274
Ensembl chr 4:154,153,834...154,302,590 		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:9536098 PMID:12717447 PMID:12851857 PMID:15542397 More... NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		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 More... NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		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 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		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 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207 		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 More... NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207 		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:9536098 PMID:9683594 PMID:9700193 PMID:10862081 PMID:12794690 More... NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:15542397 PMID:19105186 PMID:21031596 More... NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356 		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:9536098 PMID:15146459 PMID:16199547 PMID:17576681 PMID:18285423 More... NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272 		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 More... NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		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 More... NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748 		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
RGD		 PMID:1155634 PMID:9326939 PMID:9326940 PMID:9536098 PMID:9657395 More... RGD:13831337, RGD:13831313 NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
retinal dystrophy with leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH LEUKODYSTROPHY
ClinVar Annotator: match by term: Retinal dystrophy with leukodystrophy		 ClinVar
OMIM		 PMID:23105016 PMID:25741868 PMID:28492532 NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215 		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
RGD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:28492532 More... RGD:1300366 NCBI chr 3:60,747,323...60,845,831
Ensembl chr 3:60,747,323...60,845,830 		JBrowse link
G Gnpat glyceronephosphate O-acyltransferase ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar PMID:25741868 PMID:28492532 NCBI chr19:52,822,326...52,848,872
Ensembl chr19:52,822,319...52,852,361 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar PMID:26220973 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chondrodysplasia punctata rhizomelic form
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata		 CTD
ClinVar		 PMID:1773541 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9536098 More... NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748 		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
RGD		 PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 More... RGD:13208515 NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748 		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:1152660 PMID:1405476 PMID:7530787 PMID:9536089 PMID:9843043 More... NCBI chr19:52,822,326...52,848,872
Ensembl chr19:52,822,319...52,852,361 		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 More... NCBI chr 3:60,747,323...60,845,831
Ensembl chr 3:60,747,323...60,845,830 		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 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		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:16199547 More... NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107 		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:16199547 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428 		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 2:209,852,087...209,905,763
Ensembl chr 2:209,852,087...209,906,020 		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 9:14,233,478...14,247,847
Ensembl chr 9:14,233,428...14,247,831 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO RGD PMID:14673138 RGD:13782195 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551 		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 PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Gnmt glycine N-methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:11810299 PMID:26669662 PMID:27779215 PMID:28492532 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10343282 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:21888010 RGD:14747040 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		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 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by OMIM:214100
ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
ClinVar Annotator: match by term: Zellweger Spectrum
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
RGD		 PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:9536098 More... RGD:25671426, RGD:25671425 NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		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 More... NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISS OMIM:214100 MouseDO NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495 		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 More... NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10332040 PMID:19449432 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146459 PMID:18285423 NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272 		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:9837814 PMID:11890679 PMID:16199547 PMID:20647552 PMID:20681997 More... NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10051604 NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608 		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
RGD		 PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 More... RGD:13207457, RGD:13207456 NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404 		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 More... NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10942428 NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO RGD PMID:11583975 PMID:28866057 PMID:9288097 RGD:25440483, RGD:25440485, RGD:13207457 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 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:8670792 PMID:8940266 PMID:9536098 PMID:10408779 PMID:11355018 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO RGD PMID:8954107 PMID:10709665 RGD:13831312, RGD:13831337 NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Zellweger syndrome ClinVar PMID:9683594 PMID:10862081 PMID:15542397 PMID:19105186 PMID:21031596 More... NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356 		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 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400 		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 9:14,218,366...14,229,141
Ensembl chr 9:14,218,802...14,229,235 		JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Zellweger syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:30,559,063...30,569,409
Ensembl chr 4:30,559,087...30,569,406 		JBrowse link
G Scp2 sterol carrier protein 2 ISO RGD PMID:3555624 RGD:13782196 NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          peroxisomal disease 137
            D-bifunctional protein deficiency 1
            Refsum disease + 9
            acatalasia 1
            adrenoleukodystrophy + 94
            alpha-methylacyl-CoA racemase deficiency 2
            congenital bile acid synthesis defect 4 2
            glutaric acidemia type 3 1
            mevalonic aciduria 5
            peroxisomal acyl-CoA oxidase deficiency 2
            peroxisomal biogenesis disorder + 75
            retinal dystrophy with leukodystrophy 1
            rhizomelic chondrodysplasia punctata + 4
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            peroxisomal disease 137
              D-bifunctional protein deficiency 1
              Refsum disease + 9
              acatalasia 1
              adrenoleukodystrophy + 94
              alpha-methylacyl-CoA racemase deficiency 2
              congenital bile acid synthesis defect 4 2
              glutaric acidemia type 3 1
              mevalonic aciduria 5
              peroxisomal acyl-CoA oxidase deficiency 2
              peroxisomal biogenesis disorder + 75
              retinal dystrophy with leukodystrophy 1
              rhizomelic chondrodysplasia punctata + 4
paths to the root