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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:An inherited metabolic disorder that involves peroxisome malfunction. (DO)
Synonyms:exact_synonym: General Peroxisomal Dysfunction;   Multiple Peroxisomal Dysfunction;   Multiple Peroxisomal Dysfunctions;   Peroxisomal Disorder;   Peroxisomal Disorders;   Single Peroxisomal Dysfunction;   general peroxisomal dysfunctions;   single peroxisomal dysfunctions
 narrow_synonym: Adrenoleukodystrophy, Autosomal Neonatal Form;   Hyperpipecolatemia;   Hyperpipecolic Acidemia;   Hyperpipecolic Acidemias;   Neonatal Adrenoleukodystrophies;   Neonatal Adrenoleukodystrophy;   peroxisome biogenesis disorder, complementation group 7
 primary_id: MESH:D018901
 xref: EFO:0010956;   ICD10CM:E71.5;   ICD9CM:277.86;   NCI:C125593;   NCI:C85005;   NCI:C99251

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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 ISO MouseDO NCBI chrNW_004936484:2,224,308...2,268,302
Ensembl chrNW_004936484:2,225,659...2,271,668 		JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9345094 PMID:16385454 NCBI chrNW_004936715:2,357,215...2,446,601
Ensembl chrNW_004936715:2,357,274...2,446,271 		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 chrNW_004936803:1,291,867...1,340,123
Ensembl chrNW_004936803:1,291,702...1,340,178 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO RGD PMID:25176044 RGD:13207455 NCBI chrNW_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO RGD PMID:15732085 RGD:13207458 NCBI chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO RGD PMID:7493019 RGD:729462 NCBI chrNW_004936476:16,948,137...16,963,601
Ensembl chrNW_004936476:16,949,028...16,964,040 		JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10642506 NCBI chrNW_004936538:5,218,097...5,252,579
Ensembl chrNW_004936538:5,228,418...5,242,668 		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 | ClinVar Annotator: match by term: Catalase deficiency OMIM
ClinVar		 PMID:1551654 PMID:2308162 PMID:8673475 PMID:11197178 PMID:25741868 More... NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		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: X-linked cerebral adrenoleukodystrophy OMIM
ClinVar
RGD		 PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 More... RGD:1598655 NCBI chrNW_004936809:615,133...634,618
Ensembl chrNW_004936809:615,139...635,990 		JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chrNW_004936471:36,767,656...36,822,677
Ensembl chrNW_004936471:36,767,652...36,822,722 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:791,275...807,448
Ensembl chrNW_004936809:791,274...807,450 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:396,883...466,372
Ensembl chrNW_004936809:396,733...466,524 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,179,507...1,188,172
Ensembl chrNW_004936809:1,179,464...1,188,283 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:789,337...790,986
Ensembl chrNW_004936809:788,286...790,954 		JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:582,689...614,800
Ensembl chrNW_004936809:582,649...615,079 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:375,589...389,718
Ensembl chrNW_004936809:375,543...389,756 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:341,114...380,817
Ensembl chrNW_004936927:341,253...376,700 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:471,619...482,296
Ensembl chrNW_004936809:472,061...482,192 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:514,989...543,691
Ensembl chrNW_004936927:514,899...543,693 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:317,417...341,016
Ensembl chrNW_004936927:320,833...341,021 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:134,770...144,057 JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,151,312...1,159,017
Ensembl chrNW_004936809:1,151,202...1,159,029 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:535,434...538,219
Ensembl chrNW_004936809:535,434...539,319 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,127,701...1,130,195
Ensembl chrNW_004936809:1,127,710...1,130,195 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:189,359...301,791
Ensembl chrNW_004936927:190,111...301,609 		JBrowse link
G F8a1 coagulation factor VIII associated 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:234,162...236,881 JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,248,865...1,258,894
Ensembl chrNW_004936809:1,249,823...1,258,860 		JBrowse link
G Fam50a family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,195,479...1,202,126 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:304,162...318,271
Ensembl chrNW_004936927:304,197...318,271 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889 		JBrowse link
G Gab3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:68,506...93,899
Ensembl chrNW_004936927:70,923...124,164 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,188,793...1,194,816
Ensembl chrNW_004936809:1,188,628...1,194,863 		JBrowse link
G Haus7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:321,906...350,105
Ensembl chrNW_004936809:321,497...350,110 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:827,008...853,689
Ensembl chrNW_004936809:827,031...853,644 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:666,231...675,279
Ensembl chrNW_004936809:666,337...675,214 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813 		JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:891,407...900,311
Ensembl chrNW_004936809:890,717...900,326 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:736,385...768,822
Ensembl chrNW_004936809:736,319...761,973 		JBrowse link
G Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,229,933...1,232,448 JBrowse link
G LOC101967165 histone H2A-Bbd type 2/3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:232,353...232,857 JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839 		JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004936551:5,188,395...5,197,477 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:147,448...170,435
Ensembl chrNW_004936927:147,282...170,575 		JBrowse link
G Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:334,017...341,016
Ensembl chrNW_004936927:334,894...341,072 		JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:812,454...817,226
Ensembl chrNW_004936809:812,390...817,288 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936714:246,574...273,930
Ensembl chrNW_004936714:246,551...273,912 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:681,412...707,932
Ensembl chrNW_004936809:679,938...707,938 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chrNW_004936491:6,530,385...6,559,706
Ensembl chrNW_004936491:6,529,779...6,562,590 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chrNW_004936807:1,035,733...1,046,225
Ensembl chrNW_004936807:1,035,643...1,046,316 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,209,787...1,226,726
Ensembl chrNW_004936809:1,209,743...1,226,728 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:645,569...659,850
Ensembl chrNW_004936809:644,049...659,859 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:553,438...557,385
Ensembl chrNW_004936809:553,431...557,427 		JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936714:90,133...93,805
Ensembl chrNW_004936714:92,269...93,660 		JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936714:155,618...156,955
Ensembl chrNW_004936714:155,618...157,563 		JBrowse link
G Pnma6a PNMA family member 6A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936714:76,508...79,485
Ensembl chrNW_004936714:77,885...79,336 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:266,367...269,248 JBrowse link
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:492,114...498,030
Ensembl chrNW_004936927:492,099...498,294 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:817,392...823,926
Ensembl chrNW_004936809:817,355...823,941 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,146,994...1,149,573
Ensembl chrNW_004936809:1,146,809...1,149,618 		JBrowse link
G Slc10a3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,241,980...1,245,986
Ensembl chrNW_004936809:1,241,986...1,246,266 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:571,234...578,298 JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:171,867...186,718 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:661,264...666,198
Ensembl chrNW_004936809:661,264...666,188 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:675,178...679,245
Ensembl chrNW_004936809:675,049...679,707 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,160,265...1,168,956
Ensembl chrNW_004936809:1,160,247...1,171,097 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,022,795...1,042,475
Ensembl chrNW_004936809:1,022,795...1,040,120 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248 		JBrowse link
G Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,048,672...1,084,125
Ensembl chrNW_004936809:1,048,672...1,083,994 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936958:64,713...113,627 JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:317,655...319,293
Ensembl chrNW_004936809:318,548...319,258 		JBrowse link
G Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,238,459...1,241,319
Ensembl chrNW_004936809:1,238,462...1,241,318 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:433,598...468,191
Ensembl chrNW_004936927:433,551...469,331 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:294,114...309,368
Ensembl chrNW_004936809:301,482...356,094 		JBrowse link
G Znf185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936714:167,552...218,785
Ensembl chrNW_004936714:152,319...218,921 		JBrowse link
alpha-methylacyl-CoA racemase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt2 alanine--glyoxylate aminotransferase 2 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chrNW_004936518:6,508,928...6,544,324
Ensembl chrNW_004936518:6,508,928...6,544,146 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency OMIM
ClinVar		 PMID:9536098 PMID:10655068 PMID:12438241 PMID:12512044 PMID:15249642 More... NCBI chrNW_004936518:7,072,436...7,088,927
Ensembl chrNW_004936518:7,072,403...7,088,929 		JBrowse link
G Brix1 biogenesis of ribosomes BRX1 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chrNW_004936518:6,610,623...6,620,369
Ensembl chrNW_004936518:6,610,623...6,620,383 		JBrowse link
G C1qtnf3 C1q and TNF related 3 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chrNW_004936518:7,039,590...7,060,463
Ensembl chrNW_004936518:7,039,525...7,060,739 		JBrowse link
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chrNW_004936518:6,582,170...6,608,074
Ensembl chrNW_004936518:6,582,924...6,608,040 		JBrowse link
G Prlr prolactin receptor ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chrNW_004936518:6,352,133...6,495,242
Ensembl chrNW_004936518:6,473,536...6,487,757 		JBrowse link
G Rad1 RAD1 checkpoint DNA exonuclease ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chrNW_004936518:6,620,325...6,626,328
Ensembl chrNW_004936518:6,620,325...6,628,393 		JBrowse link
G Rai14 retinoic acid induced 14 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chrNW_004936518:6,716,546...6,827,349
Ensembl chrNW_004936518:6,716,530...6,827,387 		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 chrNW_004936518:7,094,949...7,139,961
Ensembl chrNW_004936518:7,095,038...7,137,277 		JBrowse link
G Ttc23l tetratricopeptide repeat domain 23 like ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chrNW_004936518:6,641,805...6,706,937 JBrowse link
Cerebrohepatorenal Syndrome, Variant Types 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: Cerebrohepatorenal syndrome, variant types ClinVar PMID:25741868 PMID:26344566 PMID:28492532 NCBI chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247 		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 Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D OMIM
ClinVar		 PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chrNW_004936470:16,051,291...16,102,563
Ensembl chrNW_004936470:16,051,015...16,102,585 		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 OMIM
ClinVar		 PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 More... NCBI chrNW_004936518:7,072,436...7,088,927
Ensembl chrNW_004936518:7,072,403...7,088,929 		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 chrNW_004936518:7,094,949...7,139,961
Ensembl chrNW_004936518:7,095,038...7,137,277 		JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1 associated ATM activator 1 ISO ClinVar Annotator: match by term: DBP deficiency ClinVar PMID:16385454 PMID:22279524 PMID:23035047 PMID:28492532 NCBI chrNW_004936823:393,878...404,348
Ensembl chrNW_004936823:393,842...404,366 		JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 severity ISO ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency
DNA:mutations:multiple (human)		 OMIM
ClinVar
RGD		 PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 More... RGD:10411884 NCBI chrNW_004936715:2,357,215...2,446,601
Ensembl chrNW_004936715:2,357,274...2,446,271 		JBrowse link
glutaric acidemia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sugct succinyl-CoA:glutarate-CoA transferase ISO ClinVar Annotator: match by term: GA III | ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency OMIM
ClinVar		 PMID:1909402 PMID:12555941 PMID:18926513 PMID:20818383 PMID:23893049 More... NCBI chrNW_004936478:15,424,010...16,102,401
Ensembl chrNW_004936478:15,424,041...16,102,024 		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: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chrNW_004936803:1,348,238...1,361,566 JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chrNW_004936803:1,291,867...1,340,123
Ensembl chrNW_004936803:1,291,702...1,340,178 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004936807:1,035,733...1,046,225
Ensembl chrNW_004936807:1,035,643...1,046,316 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936476:16,948,137...16,963,601
Ensembl chrNW_004936476:16,949,028...16,964,040 		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 term: PEROXISOME BIOGENESIS DISORDER 4C OMIM
ClinVar		 PMID:3515938 PMID:8670792 PMID:9536098 PMID:10408779 PMID:11004248 More... NCBI chrNW_004936476:16,948,137...16,963,601
Ensembl chrNW_004936476:16,949,028...16,964,040 		JBrowse link
infantile Refsum disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc10 ATP binding cassette subfamily C member 10 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,544,714...16,564,570
Ensembl chrNW_004936476:16,545,016...16,564,214 		JBrowse link
G Bicral BICRA like chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,037,595...17,111,786
Ensembl chrNW_004936476:17,040,595...17,081,141 		JBrowse link
G Bysl bystin like ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,887,998...17,896,598
Ensembl chrNW_004936476:17,888,335...17,896,268 		JBrowse link
G Ccnd3 cyclin D3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,799,754...17,886,835
Ensembl chrNW_004936476:17,879,869...17,886,827 		JBrowse link
G Cnpy3 canopy FGF signaling regulator 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,972,389...16,983,266
Ensembl chrNW_004936476:16,971,942...16,983,184 		JBrowse link
G Creb3l1 cAMP responsive element binding protein 3 like 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004936562:2,739,908...2,772,484
Ensembl chrNW_004936562:2,739,905...2,772,484 		JBrowse link
G Crip3 cysteine rich protein 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,671,284...16,674,406
Ensembl chrNW_004936476:16,671,284...16,674,406 		JBrowse link
G Cry2 cryptochrome circadian regulator 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004936562:3,133,849...3,168,472
Ensembl chrNW_004936562:3,133,633...3,168,480 		JBrowse link
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,886,416...16,901,532
Ensembl chrNW_004936476:16,887,610...16,901,458 		JBrowse link
G Cul9 cullin 9 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,743,221...16,779,293
Ensembl chrNW_004936476:16,743,202...16,779,298 		JBrowse link
G CUNH6orf132 chromosome unknown C6orf132 homolog ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,724,903...17,756,939 JBrowse link
G CUNH6orf226 chromosome unknown C6orf226 homolog ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
G Dgkz diacylglycerol kinase zeta ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004936562:2,690,907...2,733,455
Ensembl chrNW_004936562:2,690,858...2,733,620 		JBrowse link
G Dlk2 delta like non-canonical Notch ligand 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,540,926...16,544,785
Ensembl chrNW_004936476:16,540,853...16,546,499 		JBrowse link
G Dnph1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,740,643...16,742,831
Ensembl chrNW_004936476:16,740,581...16,742,866 		JBrowse link
G Foxp4 forkhead box P4 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,314,108...18,346,149
Ensembl chrNW_004936476:18,313,951...18,346,199 		JBrowse link
G Frey1 Frey regulator of sperm-oocyte fusion 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004936562:3,109,979...3,113,144
Ensembl chrNW_004936562:3,112,483...3,113,142 		JBrowse link
G Frs3 fibroblast growth factor receptor substrate 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,015,953...18,023,871
Ensembl chrNW_004936476:18,017,892...18,023,446 		JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chrNW_004936803:1,348,238...1,361,566 JBrowse link
G Gnmt glycine N-methyltransferase ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:26669662 PMID:27779215 More... NCBI chrNW_004936476:16,961,734...16,965,487
Ensembl chrNW_004936476:16,957,270...16,965,346 		JBrowse link
G Gtpbp2 GTP binding protein 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,389,659...16,397,603
Ensembl chrNW_004936476:16,389,639...16,397,603 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,690,484...17,701,288
Ensembl chrNW_004936476:17,691,045...17,701,859 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,679,505...17,688,970
Ensembl chrNW_004936476:17,679,500...17,691,037 		JBrowse link
G Klc4 kinesin light chain 4 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,868,380...16,881,628
Ensembl chrNW_004936476:16,868,380...16,882,233 		JBrowse link
G Klhdc3 kelch domain containing 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,913,494...16,920,108
Ensembl chrNW_004936476:16,913,493...16,918,524 		JBrowse link
G Large2 LARGE xylosyl- and glucuronyltransferase 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004936562:3,093,719...3,099,311
Ensembl chrNW_004936562:3,093,857...3,099,311 		JBrowse link
G Lrrc73 leucine rich repeat containing 73 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,494,564...16,497,388
Ensembl chrNW_004936476:16,494,558...16,497,384 		JBrowse link
G Mad2l1bp MAD2L1 binding protein ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,379,932...16,385,812
Ensembl chrNW_004936476:16,380,356...16,385,479 		JBrowse link
G Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004936562:3,113,217...3,122,794
Ensembl chrNW_004936562:3,109,547...3,122,939 		JBrowse link
G Mdfi MyoD family inhibitor ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,262,662...18,276,159
Ensembl chrNW_004936476:18,263,194...18,275,935 		JBrowse link
G Mea1 male-enhanced antigen 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,920,280...16,922,326
Ensembl chrNW_004936476:16,920,246...16,928,252 		JBrowse link
G Med20 mediator complex subunit 20 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,896,689...17,976,102
Ensembl chrNW_004936476:17,895,954...17,912,835 		JBrowse link
G Mrpl2 mitochondrial ribosomal protein L2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,881,750...16,886,209
Ensembl chrNW_004936476:16,881,744...16,886,301 		JBrowse link
G Mrps10 mitochondrial ribosomal protein S10 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,659,055...17,669,280
Ensembl chrNW_004936476:17,659,082...17,667,973 		JBrowse link
G Mrps18a mitochondrial ribosomal protein S18A ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,335,396...16,351,661
Ensembl chrNW_004936476:16,335,421...16,351,363 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD)		 ClinVar PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chrNW_004936803:1,291,867...1,340,123
Ensembl chrNW_004936803:1,291,702...1,340,178 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9683594 PMID:9700193 PMID:10527683 PMID:10862081 PMID:12794690 More... NCBI chrNW_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718 		JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar NCBI chrNW_004936867:653,127...660,265
Ensembl chrNW_004936867:652,511...660,721 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum's disease ClinVar PMID:9090384 PMID:9536098 PMID:9632816 PMID:9792857 PMID:10527683 More... NCBI chrNW_004936490:1,751...5,094
Ensembl chrNW_004936490:1,527...5,069 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:10332040 PMID:21031596 PMID:25741868 PMID:28492532 PMID:33190326 More... NCBI chrNW_004936491:6,530,385...6,559,706
Ensembl chrNW_004936491:6,529,779...6,562,590 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)		 ClinVar PMID:9536098 PMID:9837814 PMID:11890679 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936562:3,103,332...3,109,884
Ensembl chrNW_004936562:3,103,349...3,109,887 		JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE ClinVar PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 More... NCBI chrNW_004936702:1,573,616...1,626,323
Ensembl chrNW_004936702:1,573,650...1,591,004 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 More... NCBI chrNW_004936807:1,035,733...1,046,225
Ensembl chrNW_004936807:1,035,643...1,046,316 		JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:10942428 PMID:21031596 PMID:28492532 NCBI chrNW_004936625:2,657,511...2,694,668
Ensembl chrNW_004936625:2,656,452...2,694,744 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar NCBI chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B		 ClinVar PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 More... NCBI chrNW_004936476:16,948,137...16,963,601
Ensembl chrNW_004936476:16,949,028...16,964,040 		JBrowse link
G Pgc progastricsin ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,039,709...18,046,510 JBrowse link
G Phf21a PHD finger protein 21A ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004936562:2,920,254...3,093,444
Ensembl chrNW_004936562:2,920,316...3,093,556 		JBrowse link
G Polh DNA polymerase eta ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,400,026...16,434,538
Ensembl chrNW_004936476:16,401,517...16,429,287 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,483,203...16,487,360
Ensembl chrNW_004936476:16,480,835...16,487,424 		JBrowse link
G Ppp2r5d protein phosphatase 2 regulatory subunit B'delta ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,922,204...16,945,400
Ensembl chrNW_004936476:16,923,254...16,941,430 		JBrowse link
G Prickle4 prickle planar cell polarity protein 4 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,008,449...18,013,766
Ensembl chrNW_004936476:18,008,469...18,012,065 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981 		JBrowse link
G Ptcra pre T cell antigen receptor alpha ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,989,281...16,996,065 JBrowse link
G Ptk7 protein tyrosine kinase 7 (inactive) ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,797,836...16,866,989
Ensembl chrNW_004936476:16,798,686...16,866,896 		JBrowse link
G Rpl7l1 ribosomal protein L7 like 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,022,292...17,030,534
Ensembl chrNW_004936476:17,017,950...17,030,857 		JBrowse link
G Rrp36 ribosomal RNA processing 36 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,906,156...16,913,196
Ensembl chrNW_004936476:16,907,020...16,913,103 		JBrowse link
G Rsph9 radial spoke head component 9 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,351,794...16,369,092
Ensembl chrNW_004936476:16,350,450...16,369,356 		JBrowse link
G Slc22a7 solute carrier family 22 member 7 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,675,377...16,680,209
Ensembl chrNW_004936476:16,675,026...16,680,209 		JBrowse link
G Slc35c1 solute carrier family 35 member C1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004936562:3,190,955...3,198,858
Ensembl chrNW_004936562:3,190,962...3,198,884 		JBrowse link
G Srf serum response factor ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,779,941...16,789,499
Ensembl chrNW_004936476:16,782,233...16,789,130 		JBrowse link
G Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,779,474...17,798,465
Ensembl chrNW_004936476:17,779,242...17,798,505 		JBrowse link
G Tbcc tubulin folding cofactor C ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,145,956...17,147,299
Ensembl chrNW_004936476:17,146,017...17,147,054 		JBrowse link
G Tfeb transcription factor EB ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,189,096...18,233,622
Ensembl chrNW_004936476:18,189,041...18,233,701 		JBrowse link
G Tjap1 tight junction associated protein 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,497,814...16,523,086
Ensembl chrNW_004936476:16,498,459...16,504,474 		JBrowse link
G Tomm6 translocase of outer mitochondrial membrane 6 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,006,541...18,008,872
Ensembl chrNW_004936476:18,006,543...18,008,871 		JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,577,825...18,583,675
Ensembl chrNW_004936476:18,574,381...18,583,647 		JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,659,725...18,665,406
Ensembl chrNW_004936476:18,659,815...18,663,940 		JBrowse link
G Treml2 triggering receptor expressed on myeloid cells like 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,625,573...18,632,228
Ensembl chrNW_004936476:18,625,573...18,632,228 		JBrowse link
G Treml4 triggering receptor expressed on myeloid cells like 4 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,603,620...18,612,050 JBrowse link
G Trerf1 transcriptional regulating factor 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,439,172...17,654,425
Ensembl chrNW_004936476:17,527,394...17,655,453 		JBrowse link
G Ttbk1 tau tubulin kinase 1 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,686,513...16,725,750
Ensembl chrNW_004936476:16,689,305...16,725,708 		JBrowse link
G Ubr2 ubiquitin protein ligase E3 component n-recognin 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,178,981...17,322,600
Ensembl chrNW_004936476:17,181,214...17,322,163 		JBrowse link
G Usp49 ubiquitin specific peptidase 49 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,946,875...18,002,081
Ensembl chrNW_004936476:17,991,688...18,000,794 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673 		JBrowse link
G Xpo5 exportin 5 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,434,629...16,481,044
Ensembl chrNW_004936476:16,434,638...16,481,044 		JBrowse link
G Yipf3 Yip1 domain family member 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,487,405...16,492,177
Ensembl chrNW_004936476:16,487,400...16,492,177 		JBrowse link
G Znf318 zinc finger protein 318 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,626,389...16,659,074 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 chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chrNW_004936549:1,378,536...1,400,501
Ensembl chrNW_004936549:1,378,736...1,400,532 		JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Mevalonic aciduria ClinVar PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936769:1,261,553...1,274,353
Ensembl chrNW_004936769:1,259,703...1,274,396 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Mevalonic aciduria | ClinVar Annotator: match by term: Periodic fever Dutch type OMIM
ClinVar		 PMID:1377680 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 More... NCBI chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:7780142 RGD:9585642 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Mevalonic aciduria ClinVar PMID:28492532 NCBI chrNW_004936769:1,197,596...1,248,173
Ensembl chrNW_004936769:1,197,588...1,248,200 		JBrowse link
Mitchell syndrome 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: Mitchell syndrome OMIM
ClinVar		 PMID:8040306 PMID:16199547 PMID:17458872 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936594:1,115,607...1,140,085
Ensembl chrNW_004936594:1,112,565...1,140,228 		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: Pseudoneonatal adrenoleukodystrophy OMIM
ClinVar		 PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 More... NCBI chrNW_004936594:1,115,607...1,140,085
Ensembl chrNW_004936594:1,112,565...1,140,228 		JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar NCBI chrNW_004936594:1,139,926...1,159,611
Ensembl chrNW_004936594:1,140,003...1,159,618 		JBrowse link
peroxisomal biogenesis disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101959362 peroxisomal membrane protein PEX14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146459 PMID:18285423 PMID:20647552 NCBI chrNW_004936623:4,313,186...4,462,462
Ensembl chrNW_004936623:4,313,147...4,462,528
Ensembl chrNW_004936623:4,313,147...4,462,528 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9398847 PMID:9398848 PMID:9539740 NCBI chrNW_004936803:1,291,867...1,340,123
Ensembl chrNW_004936803:1,291,702...1,340,178 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9683594 PMID:9700193 PMID:10862081 NCBI chrNW_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9090384 NCBI chrNW_004936490:1,751...5,094
Ensembl chrNW_004936490:1,527...5,069 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10332040 PMID:10441568 PMID:19449432 NCBI chrNW_004936491:6,530,385...6,559,706
Ensembl chrNW_004936491:6,529,779...6,562,590 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11890679 PMID:12223482 NCBI chrNW_004936562:3,103,332...3,109,884
Ensembl chrNW_004936562:3,103,349...3,109,887 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20683989 NCBI chrNW_004936740:351,089...357,657
Ensembl chrNW_004936740:351,045...359,033 		JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1546315 PMID:10528859 NCBI chrNW_004936702:1,573,616...1,626,323
Ensembl chrNW_004936702:1,573,650...1,591,004 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chrNW_004936807:1,035,733...1,046,225
Ensembl chrNW_004936807:1,035,643...1,046,316 		JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10942428 NCBI chrNW_004936625:2,657,511...2,694,668
Ensembl chrNW_004936625:2,656,452...2,694,744 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX5 defect ClinVar PMID:25741868 NCBI chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8940266 PMID:10408779 NCBI chrNW_004936476:16,948,137...16,963,601
Ensembl chrNW_004936476:16,949,028...16,964,040 		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: PEX3-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10A (Zellweger) OMIM
ClinVar		 PMID:7562283 PMID:9536098 PMID:10942428 PMID:10958759 PMID:10968777 More... NCBI chrNW_004936625:2,657,511...2,694,668
Ensembl chrNW_004936625:2,656,452...2,694,744 		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 OMIM
ClinVar		 PMID:25741868 PMID:27557811 PMID:28492532 NCBI chrNW_004936625:2,657,511...2,694,668
Ensembl chrNW_004936625:2,656,452...2,694,744 		JBrowse link
peroxisome biogenesis disorder 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH2orf74 chromosome unknown C2orf74 homolog ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936491:6,654,389...6,657,560
Ensembl chrNW_004936491:6,654,380...6,657,560 		JBrowse link
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936491:7,202,877...7,221,493
Ensembl chrNW_004936491:7,212,194...7,221,618 		JBrowse link
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) OMIM
ClinVar		 PMID:9480815 PMID:9536098 PMID:10332040 PMID:10441568 PMID:16006427 More... NCBI chrNW_004936491:6,530,385...6,559,706
Ensembl chrNW_004936491:6,529,779...6,562,590 		JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:9536098 PMID:10332040 PMID:16199547 PMID:17576681 PMID:19449432 More... NCBI chrNW_004936491:6,439,248...6,530,309
Ensembl chrNW_004936491:6,439,224...6,530,663 		JBrowse link
G Sanbr SANT and BTB domain regulator of CSR ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:19449432 PMID:28492532 NCBI chrNW_004936491:6,578,538...6,629,610
Ensembl chrNW_004936491:6,578,484...6,630,513 		JBrowse link
G Usp34 ubiquitin specific peptidase 34 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936491:6,680,324...6,862,053
Ensembl chrNW_004936491:6,680,950...6,869,651 		JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936491:6,921,753...6,962,062
Ensembl chrNW_004936491:6,921,319...6,962,343 		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 OMIM
ClinVar		 PMID:9480815 PMID:10332040 PMID:10441568 PMID:16006427 PMID:17041890 More... NCBI chrNW_004936491:6,530,385...6,559,706
Ensembl chrNW_004936491:6,529,779...6,562,590 		JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11B ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936491:6,439,248...6,530,309
Ensembl chrNW_004936491:6,439,224...6,530,663 		JBrowse link
peroxisome biogenesis disorder 12A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936740:489,357...514,235
Ensembl chrNW_004936740:488,154...514,308 		JBrowse link
G Casq1 calsequestrin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936740:430,367...442,468
Ensembl chrNW_004936740:430,026...442,539 		JBrowse link
G Copa COPI coat complex subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936740:301,928...347,323
Ensembl chrNW_004936740:301,853...346,746 		JBrowse link
G Dcaf8 DDB1 and CUL4 associated factor 8 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936740:368,795...415,997
Ensembl chrNW_004936740:387,469...413,961 		JBrowse link
G LOC101966280 sodium/potassium-transporting ATPase subunit alpha-4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936740:445,952...478,580
Ensembl chrNW_004936740:445,952...478,532 		JBrowse link
G Ncstn nicastrin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936740:285,789...301,918
Ensembl chrNW_004936740:285,657...302,111 		JBrowse link
G Pea15 proliferation and apoptosis adaptor protein 15 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936740:416,355...426,801
Ensembl chrNW_004936740:416,355...426,801 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) OMIM
ClinVar		 PMID:9536098 PMID:10051604 PMID:16199547 PMID:17576681 PMID:20683989 More... NCBI chrNW_004936740:351,089...357,657
Ensembl chrNW_004936740:351,045...359,033 		JBrowse link
peroxisome biogenesis disorder 13A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101959362 peroxisomal membrane protein PEX14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 13A (Zellweger) OMIM
ClinVar		 PMID:15146459 PMID:18285423 PMID:25741868 PMID:28492532 NCBI chrNW_004936623:4,313,186...4,462,462
Ensembl chrNW_004936623:4,313,147...4,462,528
Ensembl chrNW_004936623:4,313,147...4,462,528 		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: PEX11B-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 14B OMIM
ClinVar		 PMID:10704444 PMID:20826455 PMID:22581968 PMID:25741868 PMID:28129423 More... NCBI chrNW_004936867:653,127...660,265
Ensembl chrNW_004936867:652,511...660,721 		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:9536098 PMID:11389485 PMID:12032265 More... NCBI chrNW_004936803:1,348,238...1,361,566 JBrowse link
G LOC101959362 peroxisomal membrane protein PEX14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chrNW_004936623:4,313,186...4,462,462
Ensembl chrNW_004936623:4,313,147...4,462,528
Ensembl chrNW_004936623:4,313,147...4,462,528 		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:2324705 PMID:9398847 PMID:9398848 More... NCBI chrNW_004936803:1,291,867...1,340,123
Ensembl chrNW_004936803:1,291,702...1,340,178 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chrNW_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936490:1,751...5,094
Ensembl chrNW_004936490:1,527...5,069 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chrNW_004936491:6,530,385...6,559,706
Ensembl chrNW_004936491:6,529,779...6,562,590 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936562:3,103,332...3,109,884
Ensembl chrNW_004936562:3,103,349...3,109,887 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936740:351,089...357,657
Ensembl chrNW_004936740:351,045...359,033 		JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936702:1,573,616...1,626,323
Ensembl chrNW_004936702:1,573,650...1,591,004 		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 chrNW_004936807:1,035,733...1,046,225
Ensembl chrNW_004936807:1,035,643...1,046,316 		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 chrNW_004936625:2,657,511...2,694,668
Ensembl chrNW_004936625:2,656,452...2,694,744 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 NCBI chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:10408779 PMID:19877282 PMID:25525159 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936476:16,948,137...16,963,601
Ensembl chrNW_004936476:16,949,028...16,964,040 		JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chrNW_004936491:6,439,248...6,530,309
Ensembl chrNW_004936491:6,439,224...6,530,663 		JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936803:1,283,110...1,291,646
Ensembl chrNW_004936803:1,283,077...1,291,674 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chrNW_004936737:1,152,937...1,164,817
Ensembl chrNW_004936737:1,152,937...1,164,616 		JBrowse link
peroxisome biogenesis disorder 1B 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:9536098 PMID:12032265 PMID:12402331 More... NCBI chrNW_004936803:1,348,238...1,361,566 JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chrNW_004936803:1,291,867...1,340,123
Ensembl chrNW_004936803:1,291,702...1,340,178 		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 chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247 		JBrowse link
peroxisome biogenesis disorder 2B 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 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:25741868 NCBI chrNW_004936809:615,133...634,618
Ensembl chrNW_004936809:615,139...635,990 		JBrowse link
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,148,454...1,158,069 JBrowse link
G Aicda activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936870:25,039...34,601
Ensembl chrNW_004936870:25,039...34,601 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004939393:628...6,234
Ensembl chrNW_004939393:628...6,201 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:886,571...894,746
Ensembl chrNW_004936709:887,455...894,727 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:709,001...719,758
Ensembl chrNW_004936709:708,968...720,478 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:695,898...705,189 JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:731,211...742,583
Ensembl chrNW_004936709:731,165...742,686 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936892:347,547...355,143
Ensembl chrNW_004936892:347,842...349,296 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,312,434...1,317,592
Ensembl chrNW_004936709:1,312,448...1,317,378 		JBrowse link
G Cd4 CD4 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:997,776...1,022,791
Ensembl chrNW_004936709:997,750...1,022,884 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:966,559...969,667
Ensembl chrNW_004936709:967,294...968,896 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,183,243...1,214,144
Ensembl chrNW_004936709:1,183,254...1,214,149 		JBrowse link
G Clec4d C-type lectin domain family 4 member D ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936858:303,639...312,092
Ensembl chrNW_004936858:303,639...312,083 		JBrowse link
G Clec4e C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936858:316,954...321,668
Ensembl chrNW_004936858:316,954...321,668 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:641,615...673,309
Ensembl chrNW_004936709:637,641...673,314 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,081,070...1,087,151
Ensembl chrNW_004936709:1,080,696...1,087,062 		JBrowse link
G CUNH12orf57 chromosome unknown C12orf57 homolog ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:884,741...886,617
Ensembl chrNW_004936709:884,741...886,895 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:847,229...854,471
Ensembl chrNW_004936709:845,633...854,976 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:904,647...913,445
Ensembl chrNW_004936709:904,031...913,451 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936892:324,103...344,739
Ensembl chrNW_004936892:331,239...344,624 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,243,149...1,247,782 JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004937847:8,179...16,783
Ensembl chrNW_004937847:7,456...16,783 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:970,169...977,059
Ensembl chrNW_004936709:970,172...976,863 		JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:990,690...996,849
Ensembl chrNW_004936709:990,202...996,854 		JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,228,589...1,242,349
Ensembl chrNW_004936709:1,228,606...1,242,349 		JBrowse link
G Ing4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,140,485...1,147,982
Ensembl chrNW_004936709:1,140,345...1,149,843 		JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,041,519...1,048,630
Ensembl chrNW_004936709:1,041,530...1,047,280 		JBrowse link
G LOC101965910 C-type lectin domain family 4 member A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936892:454,036...467,957 JBrowse link
G LOC101972289 protein FAM90A27P ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004937327:19,316...24,170 JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,170,042...1,172,148
Ensembl chrNW_004936709:1,170,215...1,171,388 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:800,197...852,659
Ensembl chrNW_004936709:799,961...851,585 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:914,077...923,169
Ensembl chrNW_004936709:914,789...922,466 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,362,846...1,369,287
Ensembl chrNW_004936709:1,362,840...1,369,365 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936870:58,863...65,844
Ensembl chrNW_004936870:57,015...71,325 		JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,053,408...1,070,253 JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,275,888...1,277,025
Ensembl chrNW_004936709:1,275,890...1,277,025 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936892:181,834...187,691 JBrowse link
G Nanognb NANOG neighbor homeobox ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936870:763,004...765,847 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 chrNW_004936709:1,250,442...1,275,823
Ensembl chrNW_004936709:1,250,495...1,275,769 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936892:372,743...385,127
Ensembl chrNW_004936892:372,284...385,202 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,215,100...1,228,117 JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:977,851...989,949
Ensembl chrNW_004936709:978,229...989,874 		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:10462504 PMID:16199547 PMID:17532062 More... NCBI chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:854,493...859,182
Ensembl chrNW_004936709:854,698...858,851 		JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,102,730...1,111,143
Ensembl chrNW_004936709:1,102,477...1,110,420 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,049,455...1,050,892
Ensembl chrNW_004936709:1,049,964...1,050,769 		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 chrNW_004936709:864,206...884,630
Ensembl chrNW_004936709:864,197...884,610 		JBrowse link
G Rbp5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:673,383...679,173
Ensembl chrNW_004936709:674,819...679,503 		JBrowse link
G Rimklb ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936870:93,084...175,154
Ensembl chrNW_004936870:93,012...164,930 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,377,852...1,403,398
Ensembl chrNW_004936709:1,377,831...1,403,833 		JBrowse link
G Tapbpl TAP binding protein like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,304,843...1,313,191
Ensembl chrNW_004936709:1,304,971...1,313,770 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:948,151...951,430
Ensembl chrNW_004936709:945,201...951,441 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:952,225...966,429
Ensembl chrNW_004936709:952,182...966,498 		JBrowse link
G Vamp1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,297,820...1,304,793
Ensembl chrNW_004936709:1,297,743...1,304,899 		JBrowse link
G Znf384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chrNW_004936709:1,114,105...1,137,918
Ensembl chrNW_004936709:1,113,974...1,138,478 		JBrowse link
peroxisome biogenesis disorder 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2b1 adaptor related protein complex 2 subunit beta 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936490:5,156...127,666
Ensembl chrNW_004936490:12,233...127,715 		JBrowse link
G Gas2l2 growth arrest specific 2 like 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936490:144,824...153,790 JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) OMIM
ClinVar		 PMID:9090384 PMID:9354782 PMID:9536098 PMID:9632816 PMID:9792857 More... NCBI chrNW_004936490:1,751...5,094
Ensembl chrNW_004936490:1,527...5,069 		JBrowse link
G Rasl10b RAS like family 10 member B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936490:134,105...145,479
Ensembl chrNW_004936490:133,950...145,476 		JBrowse link
G Unc45b unc-45 myosin chaperone B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936538:73,180...96,677
Ensembl chrNW_004936538:73,176...96,712 		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 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder type 3B OMIM
ClinVar		 PMID:2122101 PMID:9090384 PMID:9536098 PMID:9632816 PMID:9792857 More... NCBI chrNW_004936490:1,751...5,094
Ensembl chrNW_004936490:1,527...5,069 		JBrowse link
G Pfkm phosphofructokinase, muscle ISO ClinVar Annotator: match by term: Peroxisomal biogenesis disorder 3b ClinVar PMID:9792857 NCBI chrNW_004936512:6,006,247...6,031,939
Ensembl chrNW_004936512:6,006,046...6,032,899 		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) OMIM
ClinVar		 PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 More... NCBI chrNW_004936476:16,948,137...16,963,601
Ensembl chrNW_004936476:16,949,028...16,964,040 		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 OMIM
ClinVar		 PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 More... NCBI chrNW_004936476:16,948,137...16,963,601
Ensembl chrNW_004936476:16,949,028...16,964,040 		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) OMIM
ClinVar		 PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 More... NCBI chrNW_004936702:1,573,616...1,626,323
Ensembl chrNW_004936702:1,573,650...1,591,004 		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 OMIM
ClinVar		 PMID:1546315 PMID:7541833 PMID:7681622 PMID:7931872 PMID:9452066 More... NCBI chrNW_004936702:1,573,616...1,626,323
Ensembl chrNW_004936702:1,573,650...1,591,004 		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:8982949 PMID:9536098 PMID:9683594 PMID:9700193 More... NCBI chrNW_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger) ClinVar NCBI chrNW_004936737:1,152,937...1,164,817
Ensembl chrNW_004936737:1,152,937...1,164,616 		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 OMIM
ClinVar		 PMID:8982949 PMID:9683594 PMID:9700193 PMID:10527683 PMID:10862081 More... NCBI chrNW_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718 		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 (Zellweger) ClinVar PMID:28492532 NCBI chrNW_004936807:769,417...985,752
Ensembl chrNW_004936807:769,461...888,423 		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) OMIM
ClinVar		 PMID:9090381 PMID:9536098 PMID:12717447 PMID:12851857 PMID:15542397 More... NCBI chrNW_004936807:1,035,733...1,046,225
Ensembl chrNW_004936807:1,035,643...1,046,316 		JBrowse link
G Tuba8 tubulin alpha 8 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) ClinVar PMID:12851857 PMID:21031596 PMID:28492532 NCBI chrNW_004936807:1,061,542...1,079,438
Ensembl chrNW_004936807:1,061,529...1,084,228 		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 OMIM
ClinVar		 PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 More... NCBI chrNW_004936807:1,035,733...1,046,225
Ensembl chrNW_004936807:1,035,643...1,046,316 		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 (Zellweger) ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936476:11,208,251...11,241,648
Ensembl chrNW_004936476:11,208,267...11,241,648 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX16 defect OMIM
ClinVar		 PMID:9536098 PMID:9837814 PMID:11890679 PMID:17576681 PMID:20647552 More... NCBI chrNW_004936562:3,103,332...3,109,884
Ensembl chrNW_004936562:3,103,349...3,109,887 		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 OMIM
ClinVar		 PMID:20647552 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26633545 More... NCBI chrNW_004936562:3,103,332...3,109,884
Ensembl chrNW_004936562:3,103,349...3,109,887 		JBrowse link
Peroxisome biogenesis disorder 9B 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 OMIM
ClinVar		 PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 More... NCBI chrNW_004936560:4,237,691...4,302,655
Ensembl chrNW_004936560:4,237,642...4,303,286 		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 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,836,851...1,850,279
Ensembl chrNW_004936737:1,836,897...1,848,989 		JBrowse link
G Actrt2 actin related protein T2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:765,125...766,432
Ensembl chrNW_004936737:765,125...766,432 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:2,010,647...2,041,401
Ensembl chrNW_004936737:2,011,724...2,039,796 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,751,065...1,753,843 JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:369,872...383,671
Ensembl chrNW_004936737:369,852...383,719 		JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,776,550...1,778,233
Ensembl chrNW_004936737:1,776,480...1,779,611 		JBrowse link
G B3galt6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,887,250...1,889,055
Ensembl chrNW_004936737:1,887,855...1,888,826 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,877,428...1,881,345
Ensembl chrNW_004936737:1,877,191...1,881,360 		JBrowse link
G Calml6 calmodulin like 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,468,172...1,470,326
Ensembl chrNW_004936737:1,468,269...1,469,445 		JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:144,398...157,262 JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,765,027...1,773,156
Ensembl chrNW_004936737:1,764,189...1,772,475 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:98,346...127,932
Ensembl chrNW_004936737:98,365...129,671 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,416,475...1,465,984 JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,816,461...1,820,353
Ensembl chrNW_004936737:1,816,475...1,820,320 		JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,975,031...1,991,058 JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,797,348...1,811,043
Ensembl chrNW_004936737:1,797,326...1,810,286 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,296,152...1,300,038 JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,658,932...1,668,081 JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,400,437...1,405,885
Ensembl chrNW_004936737:1,400,395...1,406,119 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,518,855...1,554,926
Ensembl chrNW_004936737:1,524,325...1,555,102 		JBrowse link
G Hes4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:2,054,879...2,056,126 JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,045,496...1,047,865
Ensembl chrNW_004936737:1,046,613...1,047,950 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,820,472...1,833,301
Ensembl chrNW_004936737:1,822,826...1,833,104 		JBrowse link
G Isg15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:2,043,383...2,044,761 JBrowse link
G Klhl17 kelch like family member 17 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:2,080,699...2,086,252
Ensembl chrNW_004936737:2,079,582...2,086,152 		JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:129,781...139,139
Ensembl chrNW_004936737:129,724...139,468 		JBrowse link
G Megf6 multiple EGF like domains 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:269,629...364,809 JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,633,495...1,646,598 JBrowse link
G Mmel1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:970,504...997,452
Ensembl chrNW_004936737:970,504...997,067 		JBrowse link
G Mmp23b matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,628,915...1,632,023
Ensembl chrNW_004936737:1,629,639...1,632,023 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,166,183...1,214,517 JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,760,236...1,761,776 JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,790,653...1,794,749
Ensembl chrNW_004936737:1,790,587...1,794,796 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,568,304...1,579,929 JBrowse link
G Noc2l NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:2,087,123...2,098,153
Ensembl chrNW_004936737:2,087,158...2,098,156 		JBrowse link
G Pank4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,049,467...1,064,548
Ensembl chrNW_004936737:1,048,597...1,065,364 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group B ClinVar PMID:2723085 PMID:7565793 PMID:9536098 PMID:9683594 PMID:9700193 More... NCBI chrNW_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718 		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:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,066,860...1,131,627
Ensembl chrNW_004936737:1,066,825...1,133,216 		JBrowse link
G Plekhn1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:2,072,857...2,079,855 JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:400,819...446,768
Ensembl chrNW_004936737:404,846...446,985 		JBrowse link
G Prkcz protein kinase C zeta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,303,502...1,383,135
Ensembl chrNW_004936737:1,303,887...1,321,944 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:998,313...1,000,757
Ensembl chrNW_004936737:998,186...1,000,764 		JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,833,298...1,836,101
Ensembl chrNW_004936737:1,833,798...1,836,696 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,152,937...1,164,817
Ensembl chrNW_004936737:1,152,937...1,164,616 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,992,117...1,997,810 JBrowse link
G Scnn1d sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,851,185...1,854,923 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,889,123...1,898,303
Ensembl chrNW_004936737:1,891,415...1,898,904 		JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,223,653...1,274,664
Ensembl chrNW_004936737:1,222,341...1,276,631 		JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:141,024...141,851
Ensembl chrNW_004936737:140,702...143,791 		JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,678,425...1,705,569
Ensembl chrNW_004936737:1,678,425...1,705,609 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,811,123...1,814,982
Ensembl chrNW_004936737:1,811,815...1,814,982 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,710,311...1,711,882 JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,466,168...1,468,003 JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,746,208...1,746,947 JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,008,228...1,013,575 JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,905,307...1,910,356 JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,901,749...1,904,382 JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:171,894...211,464
Ensembl chrNW_004936737:172,467...211,464 		JBrowse link
G Tprg1l tumor protein p63 regulated 1 like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:253,752...258,767 JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,910,286...1,926,061 JBrowse link
G Ube2j2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,862,577...1,875,216
Ensembl chrNW_004936737:1,862,578...1,875,248 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:1,733,837...1,738,861
Ensembl chrNW_004936737:1,733,854...1,738,792 		JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chrNW_004936737:238,615...253,495
Ensembl chrNW_004936737:238,573...255,356 		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 Casz1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K ClinVar PMID:28492532 NCBI chrNW_004936623:4,478,421...4,503,207
Ensembl chrNW_004936623:4,467,837...4,494,390 		JBrowse link
G CUNH1orf127 chromosome unknown C1orf127 homolog ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K ClinVar PMID:28492532 NCBI chrNW_004936474:49,570...73,710 JBrowse link
G LOC101959362 peroxisomal membrane protein PEX14 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 chrNW_004936623:4,313,186...4,462,462
Ensembl chrNW_004936623:4,313,147...4,462,528
Ensembl chrNW_004936623:4,313,147...4,462,528 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K ClinVar PMID:28492532 NCBI chrNW_004936474:100,584...113,781
Ensembl chrNW_004936474:101,402...114,313 		JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K ClinVar PMID:28492532 NCBI chrNW_004936474:90,813...103,713 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 chrNW_004936715:2,357,215...2,446,601
Ensembl chrNW_004936715:2,357,274...2,446,271 		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 term: Phytanic acid storage disease ClinVar PMID:1773541 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9536098 More... NCBI chrNW_004936560:4,237,691...4,302,655
Ensembl chrNW_004936560:4,237,642...4,303,286 		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 OMIM
ClinVar		 PMID:23105016 PMID:25741868 PMID:28492532 NCBI chrNW_004936484:2,224,308...2,268,302
Ensembl chrNW_004936484:2,225,659...2,271,668 		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:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004936509:6,742,800...6,872,045
Ensembl chrNW_004936509:6,742,673...6,868,401 		JBrowse link
G Gnpat glyceronephosphate O-acyltransferase ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar PMID:9536089 PMID:11237722 PMID:25741868 PMID:28492532 NCBI chrNW_004936484:19,414,094...19,434,929
Ensembl chrNW_004936484:19,410,956...19,434,929 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar PMID:26220973 NCBI chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Chondrodysplasia punctata rhizomelic form | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 More... NCBI chrNW_004936560:4,237,691...4,302,655
Ensembl chrNW_004936560:4,237,642...4,303,286 		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: PEROXISOME BIOGENESIS DISORDER 9 | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1 OMIM
ClinVar		 PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 More... NCBI chrNW_004936560:4,237,691...4,302,655
Ensembl chrNW_004936560:4,237,642...4,303,286 		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: GNPAT-related condition | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 2 OMIM
ClinVar		 PMID:1405476 PMID:7530787 PMID:9536089 PMID:9536098 PMID:9843043 More... NCBI chrNW_004936484:19,414,094...19,434,929
Ensembl chrNW_004936484:19,410,956...19,434,929 		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 OMIM
ClinVar		 PMID:7807941 PMID:9536098 PMID:9553082 PMID:11152660 PMID:17576681 More... NCBI chrNW_004936509:6,742,800...6,872,045
Ensembl chrNW_004936509:6,742,673...6,868,401 		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:25741868 PMID:26220973 PMID:28492532 NCBI chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247 		JBrowse link
rhizomelic chondrodysplasia punctate type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Far1 fatty acyl-CoA reductase 1 ISO ClinVar Annotator: match by term: Peroxisomal fatty acyl-coa reductase 1 disorder OMIM
ClinVar		 PMID:25439727 PMID:25741868 PMID:28492532 NCBI chrNW_004936528:4,898,920...4,956,417
Ensembl chrNW_004936528:4,897,523...4,956,602 		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:9398848 PMID:9536098 PMID:11389485 PMID:12032265 More... NCBI chrNW_004936803:1,348,238...1,361,566 JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chrNW_004936803:1,291,867...1,340,123
Ensembl chrNW_004936803:1,291,702...1,340,178 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936562:3,103,332...3,109,884
Ensembl chrNW_004936562:3,103,349...3,109,887 		JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936702:1,573,616...1,626,323
Ensembl chrNW_004936702:1,573,650...1,591,004 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:10408779 PMID:19877282 PMID:25525159 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936476:16,948,137...16,963,601
Ensembl chrNW_004936476:16,949,028...16,964,040 		JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936803:1,283,110...1,291,646
Ensembl chrNW_004936803:1,283,077...1,291,674 		JBrowse link
Zellweger syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc10 ATP binding cassette subfamily C member 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,544,714...16,564,570
Ensembl chrNW_004936476:16,545,016...16,564,214 		JBrowse link
G Abcd3 ATP binding cassette subfamily D member 3 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:1301993 RGD:1598658 NCBI chrNW_004936537:4,659,685...4,745,992
Ensembl chrNW_004936537:4,659,484...4,746,616 		JBrowse link
G Bicral BICRA like chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,037,595...17,111,786
Ensembl chrNW_004936476:17,040,595...17,081,141 		JBrowse link
G Bysl bystin like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,887,998...17,896,598
Ensembl chrNW_004936476:17,888,335...17,896,268 		JBrowse link
G Ccnd3 cyclin D3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,799,754...17,886,835
Ensembl chrNW_004936476:17,879,869...17,886,827 		JBrowse link
G Cnpy3 canopy FGF signaling regulator 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,972,389...16,983,266
Ensembl chrNW_004936476:16,971,942...16,983,184 		JBrowse link
G Creb3l1 cAMP responsive element binding protein 3 like 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004936562:2,739,908...2,772,484
Ensembl chrNW_004936562:2,739,905...2,772,484 		JBrowse link
G Crip3 cysteine rich protein 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,671,284...16,674,406
Ensembl chrNW_004936476:16,671,284...16,674,406 		JBrowse link
G Cry2 cryptochrome circadian regulator 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004936562:3,133,849...3,168,472
Ensembl chrNW_004936562:3,133,633...3,168,480 		JBrowse link
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,886,416...16,901,532
Ensembl chrNW_004936476:16,887,610...16,901,458 		JBrowse link
G Cul9 cullin 9 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,743,221...16,779,293
Ensembl chrNW_004936476:16,743,202...16,779,298 		JBrowse link
G CUNH6orf132 chromosome unknown C6orf132 homolog ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,724,903...17,756,939 JBrowse link
G CUNH6orf226 chromosome unknown C6orf226 homolog ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532
G Dgkz diacylglycerol kinase zeta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004936562:2,690,907...2,733,455
Ensembl chrNW_004936562:2,690,858...2,733,620 		JBrowse link
G Dlk2 delta like non-canonical Notch ligand 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,540,926...16,544,785
Ensembl chrNW_004936476:16,540,853...16,546,499 		JBrowse link
G Dnph1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,740,643...16,742,831
Ensembl chrNW_004936476:16,740,581...16,742,866 		JBrowse link
G Foxp4 forkhead box P4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,314,108...18,346,149
Ensembl chrNW_004936476:18,313,951...18,346,199 		JBrowse link
G Frey1 Frey regulator of sperm-oocyte fusion 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004936562:3,109,979...3,113,144
Ensembl chrNW_004936562:3,112,483...3,113,142 		JBrowse link
G Frs3 fibroblast growth factor receptor substrate 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,015,953...18,023,871
Ensembl chrNW_004936476:18,017,892...18,023,446 		JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome		 ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chrNW_004936803:1,348,238...1,361,566 JBrowse link
G Gnmt glycine N-methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:26669662 PMID:27779215 More... NCBI chrNW_004936476:16,961,734...16,965,487
Ensembl chrNW_004936476:16,957,270...16,965,346 		JBrowse link
G Gtpbp2 GTP binding protein 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,389,659...16,397,603
Ensembl chrNW_004936476:16,389,639...16,397,603 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,690,484...17,701,288
Ensembl chrNW_004936476:17,691,045...17,701,859 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,679,505...17,688,970
Ensembl chrNW_004936476:17,679,500...17,691,037 		JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10343282 NCBI chrNW_004936715:2,357,215...2,446,601
Ensembl chrNW_004936715:2,357,274...2,446,271 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:21888010 RGD:14747040 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625 		JBrowse link
G Klc4 kinesin light chain 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,868,380...16,881,628
Ensembl chrNW_004936476:16,868,380...16,882,233 		JBrowse link
G Klhdc3 kelch domain containing 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,913,494...16,920,108
Ensembl chrNW_004936476:16,913,493...16,918,524 		JBrowse link
G Large2 LARGE xylosyl- and glucuronyltransferase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004936562:3,093,719...3,099,311
Ensembl chrNW_004936562:3,093,857...3,099,311 		JBrowse link
G LOC101959362 peroxisomal membrane protein PEX14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146459 PMID:18285423 NCBI chrNW_004936623:4,313,186...4,462,462
Ensembl chrNW_004936623:4,313,147...4,462,528
Ensembl chrNW_004936623:4,313,147...4,462,528 		JBrowse link
G LOC101963150 sterol 26-hydroxylase, mitochondrial ISO RGD PMID:14673138 RGD:13782195 NCBI chrNW_004936569:1,213,700...1,250,181
Ensembl chrNW_004936569:1,213,573...1,250,589 		JBrowse link
G Lrrc73 leucine rich repeat containing 73 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,494,564...16,497,388
Ensembl chrNW_004936476:16,494,558...16,497,384 		JBrowse link
G Mad2l1bp MAD2L1 binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,379,932...16,385,812
Ensembl chrNW_004936476:16,380,356...16,385,479 		JBrowse link
G Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004936562:3,113,217...3,122,794
Ensembl chrNW_004936562:3,109,547...3,122,939 		JBrowse link
G Mdfi MyoD family inhibitor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,262,662...18,276,159
Ensembl chrNW_004936476:18,263,194...18,275,935 		JBrowse link
G Mea1 male-enhanced antigen 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,920,280...16,922,326
Ensembl chrNW_004936476:16,920,246...16,928,252 		JBrowse link
G Med20 mediator complex subunit 20 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,896,689...17,976,102
Ensembl chrNW_004936476:17,895,954...17,912,835 		JBrowse link
G Mrpl2 mitochondrial ribosomal protein L2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,881,750...16,886,209
Ensembl chrNW_004936476:16,881,744...16,886,301 		JBrowse link
G Mrps10 mitochondrial ribosomal protein S10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,659,055...17,669,280
Ensembl chrNW_004936476:17,659,082...17,667,973 		JBrowse link
G Mrps18a mitochondrial ribosomal protein S18A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,335,396...16,351,661
Ensembl chrNW_004936476:16,335,421...16,351,363 		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 chrNW_004936487:12,739,445...12,763,729
Ensembl chrNW_004936487:12,739,439...12,763,734 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome ClinVar PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chrNW_004936803:1,291,867...1,340,123
Ensembl chrNW_004936803:1,291,702...1,340,178 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome ClinVar PMID:9536098 PMID:9683594 PMID:9700193 PMID:10527683 PMID:10862081 More... NCBI chrNW_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718 		JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar NCBI chrNW_004936867:653,127...660,265
Ensembl chrNW_004936867:652,511...660,721 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum		 ClinVar PMID:9090384 PMID:9536098 PMID:9632816 PMID:9792857 PMID:10527683 More... NCBI chrNW_004936490:1,751...5,094
Ensembl chrNW_004936490:1,527...5,069 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:10332040 PMID:21031596 PMID:25741868 PMID:28492532 PMID:33190326 More... NCBI chrNW_004936491:6,530,385...6,559,706
Ensembl chrNW_004936491:6,529,779...6,562,590 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum		 ClinVar PMID:9536098 PMID:9837814 PMID:11890679 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936562:3,103,332...3,109,884
Ensembl chrNW_004936562:3,103,349...3,109,887 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10051604 NCBI chrNW_004936740:351,089...357,657
Ensembl chrNW_004936740:351,045...359,033 		JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome		 ClinVar PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 More... NCBI chrNW_004936702:1,573,616...1,626,323
Ensembl chrNW_004936702:1,573,650...1,591,004 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 More... NCBI chrNW_004936807:1,035,733...1,046,225
Ensembl chrNW_004936807:1,035,643...1,046,316 		JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum ClinVar PMID:10942428 PMID:21031596 PMID:28492532 NCBI chrNW_004936625:2,657,511...2,694,668
Ensembl chrNW_004936625:2,656,452...2,694,744 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:25741868 PMID:26344566 PMID:28492532 NCBI chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome ClinVar PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 More... NCBI chrNW_004936476:16,948,137...16,963,601
Ensembl chrNW_004936476:16,949,028...16,964,040 		JBrowse link
G Pgc progastricsin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,039,709...18,046,510 JBrowse link
G Phf21a PHD finger protein 21A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004936562:2,920,254...3,093,444
Ensembl chrNW_004936562:2,920,316...3,093,556 		JBrowse link
G Polh DNA polymerase eta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,400,026...16,434,538
Ensembl chrNW_004936476:16,401,517...16,429,287 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,483,203...16,487,360
Ensembl chrNW_004936476:16,480,835...16,487,424 		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:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,922,204...16,945,400
Ensembl chrNW_004936476:16,923,254...16,941,430 		JBrowse link
G Prickle4 prickle planar cell polarity protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,008,449...18,013,766
Ensembl chrNW_004936476:18,008,469...18,012,065 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981 		JBrowse link
G Ptcra pre T cell antigen receptor alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,989,281...16,996,065 JBrowse link
G Ptk7 protein tyrosine kinase 7 (inactive) ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,797,836...16,866,989
Ensembl chrNW_004936476:16,798,686...16,866,896 		JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Zellweger Spectrum ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936803:1,283,110...1,291,646
Ensembl chrNW_004936803:1,283,077...1,291,674 		JBrowse link
G Rpl7l1 ribosomal protein L7 like 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,022,292...17,030,534
Ensembl chrNW_004936476:17,017,950...17,030,857 		JBrowse link
G Rrp36 ribosomal RNA processing 36 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,906,156...16,913,196
Ensembl chrNW_004936476:16,907,020...16,913,103 		JBrowse link
G Rsph9 radial spoke head component 9 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,351,794...16,369,092
Ensembl chrNW_004936476:16,350,450...16,369,356 		JBrowse link
G Scp2 sterol carrier protein 2 ISO RGD PMID:3555624 RGD:13782196 NCBI chrNW_004936522:8,004,503...8,110,995
Ensembl chrNW_004936522:8,005,442...8,110,889 		JBrowse link
G Slc22a7 solute carrier family 22 member 7 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,675,377...16,680,209
Ensembl chrNW_004936476:16,675,026...16,680,209 		JBrowse link
G Slc35c1 solute carrier family 35 member C1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chrNW_004936562:3,190,955...3,198,858
Ensembl chrNW_004936562:3,190,962...3,198,884 		JBrowse link
G Srf serum response factor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,779,941...16,789,499
Ensembl chrNW_004936476:16,782,233...16,789,130 		JBrowse link
G Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,779,474...17,798,465
Ensembl chrNW_004936476:17,779,242...17,798,505 		JBrowse link
G Tbcc tubulin folding cofactor C ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,145,956...17,147,299
Ensembl chrNW_004936476:17,146,017...17,147,054 		JBrowse link
G Tfeb transcription factor EB ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,189,096...18,233,622
Ensembl chrNW_004936476:18,189,041...18,233,701 		JBrowse link
G Tjap1 tight junction associated protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,497,814...16,523,086
Ensembl chrNW_004936476:16,498,459...16,504,474 		JBrowse link
G Tomm6 translocase of outer mitochondrial membrane 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,006,541...18,008,872
Ensembl chrNW_004936476:18,006,543...18,008,871 		JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,577,825...18,583,675
Ensembl chrNW_004936476:18,574,381...18,583,647 		JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,659,725...18,665,406
Ensembl chrNW_004936476:18,659,815...18,663,940 		JBrowse link
G Treml2 triggering receptor expressed on myeloid cells like 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,625,573...18,632,228
Ensembl chrNW_004936476:18,625,573...18,632,228 		JBrowse link
G Treml4 triggering receptor expressed on myeloid cells like 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:18,603,620...18,612,050 JBrowse link
G Trerf1 transcriptional regulating factor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,439,172...17,654,425
Ensembl chrNW_004936476:17,527,394...17,655,453 		JBrowse link
G Ttbk1 tau tubulin kinase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,686,513...16,725,750
Ensembl chrNW_004936476:16,689,305...16,725,708 		JBrowse link
G Ubr2 ubiquitin protein ligase E3 component n-recognin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,178,981...17,322,600
Ensembl chrNW_004936476:17,181,214...17,322,163 		JBrowse link
G Usp49 ubiquitin specific peptidase 49 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:17,946,875...18,002,081
Ensembl chrNW_004936476:17,991,688...18,000,794 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673 		JBrowse link
G Xpo5 exportin 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,434,629...16,481,044
Ensembl chrNW_004936476:16,434,638...16,481,044 		JBrowse link
G Yipf3 Yip1 domain family member 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,487,405...16,492,177
Ensembl chrNW_004936476:16,487,400...16,492,177 		JBrowse link
G Znf318 zinc finger protein 318 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chrNW_004936476:16,626,389...16,659,074 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6783
      disease of metabolism 6783
        inherited metabolic disorder 5214
          peroxisomal disease 328
            D-bifunctional protein deficiency 2
            Mitchell syndrome 1
            Refsum disease + 80
            acatalasia 1
            adrenoleukodystrophy + 130
            alpha-methylacyl-CoA racemase deficiency 10
            congenital bile acid synthesis defect 4 2
            glutaric acidemia type 3 1
            infantile Refsum disease 78
            mevalonic aciduria 6
            peroxisomal acyl-CoA oxidase deficiency 2
            peroxisomal biogenesis disorder + 232
            retinal dystrophy with leukodystrophy 1
            rhizomelic chondrodysplasia punctata + 5
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          inherited metabolic disorder 5214
            peroxisomal disease 328
              D-bifunctional protein deficiency 2
              Mitchell syndrome 1
              Refsum disease + 80
              acatalasia 1
              adrenoleukodystrophy + 130
              alpha-methylacyl-CoA racemase deficiency 10
              congenital bile acid synthesis defect 4 2
              glutaric acidemia type 3 1
              infantile Refsum disease 78
              mevalonic aciduria 6
              peroxisomal acyl-CoA oxidase deficiency 2
              peroxisomal biogenesis disorder + 232
              retinal dystrophy with leukodystrophy 1
              rhizomelic chondrodysplasia punctata + 5
paths to the root