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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



show annotations for term's descendants           Sort by:
peroxisomal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd5 acyl-CoA binding domain containing 5 ISS MouseDO NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9345094 PMID:16385454 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Peroxisomal disorder ClinVar PMID:9398847 PMID:9398848 PMID:10384394 PMID:10447258 PMID:11389485 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO RGD PMID:25176044 RGD:13207455 NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO RGD PMID:15732085 RGD:13207458 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 IMP RGD PMID:7493019 RGD:729462 NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO RGD PMID:9266377 RGD:13831311 NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
JBrowse link
G Pipox pipecolic acid and sarcosine oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10642506 NCBI chr10:62,769,874...62,783,484
Ensembl chr10:62,769,900...62,782,370
JBrowse link
acatalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO ClinVar Annotator: match by term: Acatalasemia, japanese type | ClinVar Annotator: match by term: Acatalasia | ClinVar Annotator: match by term: Catalase deficiency
CTD Direct Evidence: marker/mechanism|therapeutic
OMIM
ClinVar
CTD
PMID:1551654 PMID:2308162 PMID:8673475 PMID:11001624 PMID:11117918 More... NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 susceptibility ISO
ISS
ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy
OMIM:300100
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 More... RGD:1598655 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128
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 chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
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 chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506
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 chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461
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 chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
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 chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
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 chr20:149,337...164,375
Ensembl chr20:148,907...164,355
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 chr18:125,308...132,163
Ensembl chr18:125,227...132,160
JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
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 chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
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 chr  X:151,351,897...151,355,822
Ensembl chr  X:151,351,897...151,355,821
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 chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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 chr  X:150,957,357...150,958,871
Ensembl chr  X:150,916,679...150,960,168
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 chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362
JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
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 chr18:128,473...138,232
Ensembl chr18:132,248...138,345
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 chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272
JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:82,362,531...82,363,105
Ensembl chr  X:82,362,633...82,362,983
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 chr  X:151,154,979...151,174,441
Ensembl chr  X:151,154,979...151,180,577
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 chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
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 chr18:126,189...130,123 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 chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
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 chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674
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 chr  X:151,369,406...151,373,508
Ensembl chr  X:151,369,410...151,373,446
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 chr  X:150,906,080...150,912,674
Ensembl chr  X:150,906,278...150,910,839
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 chr  X:150,880,865...150,882,789
Ensembl chr  X:150,880,865...150,882,789
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 chr  X:151,103,531...151,108,630
Ensembl chr  X:151,103,755...151,106,037
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 chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,054,562...152,056,769
Ensembl chr  X:152,054,452...152,056,761
JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208
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 chr20:91,234...138,942
Ensembl chr20:91,272...140,386
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 chr  X:151,151,862...151,153,470
Ensembl chr  X:151,151,864...151,153,479
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 chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069
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...
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,831,869...150,877,652
Ensembl chr  X:150,831,862...150,874,810
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 chr  X:151,116,794...151,142,451
Ensembl chr  X:151,117,102...151,143,177
JBrowse link
Adult Refsum Disease, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Refsum disease, adult, 1 ClinVar PMID:1155634 PMID:2433405 PMID:9326939 PMID:9326940 PMID:9657395 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
JBrowse link
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 chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO
ISS
OMIM:614307
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency
OMIM
MouseDO
CTD
ClinVar
PMID:9536098 PMID:10655068 PMID:12438241 PMID:12512044 PMID:15249642 More... NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
JBrowse link
G Brix1 biogenesis of ribosomes BRX1 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,450,608...59,461,486
Ensembl chr 2:59,450,614...59,461,495
JBrowse link
G C1qtnf3 C1q and TNF related 3 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,917,099...59,939,519
Ensembl chr 2:59,917,188...59,939,433
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 chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752
JBrowse link
G Prlr prolactin receptor ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718
JBrowse link
G Rad1 RAD1 checkpoint DNA exonuclease ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,461,597...59,469,707
Ensembl chr 2:59,461,607...59,469,689
JBrowse link
G Rai14 retinoic acid induced 14 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,546,284...59,682,687
Ensembl chr 2:59,546,284...59,681,971
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
JBrowse link
G Ttc23l tetratricopeptide repeat domain 23-like ISO ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency ClinVar PMID:28492532 NCBI chr 2:59,476,666...59,538,313
Ensembl chr 2:59,476,669...59,538,282
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 chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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
ISS
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D
OMIM:601455
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
JBrowse link
congenital bile acid synthesis defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4
OMIM
CTD
ClinVar
PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 More... NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: DBP deficiency ClinVar PMID:16385454 PMID:22279524 PMID:23035047 PMID:28492532 NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO
ISS
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency
OMIM:261515
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 More... RGD:1599968, RGD:10411884 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
JBrowse link
glutaric acidemia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sugct succinylCoA:glutarate-CoA transferase ISO
ISS
OMIM:231690
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GA III | ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency
OMIM
MouseDO
CTD
ClinVar
PMID:1909402 PMID:12555941 PMID:18926513 PMID:20818383 PMID:23893049 More... NCBI chr17:47,376,392...48,234,362
Ensembl chr17:47,376,521...48,234,376
JBrowse link
Heimler syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: 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 chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
JBrowse link
Heimler syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Heimler syndrome 2 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 4C OMIM
ClinVar
PMID:3515938 PMID:8670792 PMID:9536098 PMID:10408779 PMID:11004248 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
JBrowse link
infantile Refsum disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 9:14,657,242...14,677,178
Ensembl chr 9:14,657,264...14,677,178
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 chr 9:14,100,253...14,185,368
Ensembl chr 9:14,154,209...14,183,671
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 chr 9:13,382,806...13,392,557
Ensembl chr 9:13,382,557...13,394,339
JBrowse link
G C9h6orf132 similar to human chromosome 6 open reading frame 132 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,524,822...13,561,756
Ensembl chr 9:13,525,395...13,561,585
JBrowse link
G C9h6orf226 smilar to human chromosome 6 open reading frame 226 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,207,988...14,209,134
Ensembl chr 9:14,208,417...14,208,761
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 chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371
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 chr 9:14,233,478...14,247,847
Ensembl chr 9:14,233,428...14,247,831
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 chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456
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 chr 9:14,554,450...14,557,344
Ensembl chr 9:14,554,450...14,557,302
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 chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965
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 chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
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 chr 9:14,435,948...14,479,552
Ensembl chr 9:14,436,111...14,479,548
JBrowse link
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 chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099
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 chr 9:14,677,102...14,681,584
Ensembl chr 9:14,676,562...14,681,594
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 chr 9:14,481,296...14,484,034
Ensembl chr 9:14,481,066...14,484,022
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 chr 9:13,058,506...13,115,406
Ensembl chr 9:13,058,476...13,114,879
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 chr 3:78,354,303...78,355,055
Ensembl chr 3:78,354,303...78,355,055
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 chr 9:13,288,559...13,297,285
Ensembl chr 9:13,288,667...13,295,382
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 chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
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 chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434
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 chr 9:14,813,964...14,823,419
Ensembl chr 9:14,813,964...14,823,241
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 chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565
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 chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455
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 chr 9:14,337,164...14,351,075
Ensembl chr 9:14,337,534...14,351,066
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 chr 9:14,302,345...14,308,736
Ensembl chr 9:14,302,354...14,308,736
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 chr 3:78,334,627...78,347,167
Ensembl chr 3:78,336,056...78,342,184
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 chr 9:14,726,157...14,730,144
Ensembl chr 9:14,726,158...14,729,158
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 chr 9:14,832,133...14,836,458
Ensembl chr 9:14,832,132...14,837,447
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 chr 3:78,355,051...78,372,946
Ensembl chr 3:78,355,048...78,372,884
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 chr 9:13,156,806...13,175,218
Ensembl chr 9:13,156,866...13,175,217
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 chr 9:14,300,283...14,304,130
Ensembl chr 9:14,293,446...14,302,060
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 chr 9:13,370,146...13,382,756
Ensembl chr 9:13,370,146...13,382,476
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 chr 9:14,333,233...14,337,006
Ensembl chr 9:14,333,234...14,337,040
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 chr 9:13,614,897...13,624,819
Ensembl chr 9:13,614,897...13,624,779
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 chr 9:14,853,322...14,869,819
Ensembl chr 9:14,853,291...14,869,835
JBrowse link
G Ncr2 natural cytotoxicity triggering receptor 2 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:12,777,195...12,828,437 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 Refsum's disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:9683594 PMID:9700193 PMID:10527683 PMID:10862081 PMID:12794690 More... NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495
JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO 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 chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:10332040 PMID:21031596 PMID:25741868 PMID:28492532 PMID:33190326 More... NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
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 chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 More... NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
CTD
ClinVar
PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 More... NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:10942428 PMID:21031596 PMID:28492532 NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: 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 chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
JBrowse link
G Pgc progastricsin ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,257,462...13,265,682
Ensembl chr 9:13,257,462...13,265,682
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 chr 3:78,158,760...78,331,903
Ensembl chr 3:78,194,549...78,331,865
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 chr 9:14,778,355...14,813,210
Ensembl chr 9:14,777,888...14,812,723
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 chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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 chr 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400
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 chr 9:13,297,494...13,305,635
Ensembl chr 9:13,297,758...13,305,630
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 chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
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 chr 9:14,218,907...14,229,141
Ensembl chr 9:14,218,802...14,229,235
JBrowse link
G Ptk7 protein tyrosine kinase 7 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,352,155...14,418,473
Ensembl chr 9:14,351,202...14,418,494
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 chr 9:14,198,101...14,206,119
Ensembl chr 9:14,198,092...14,206,110
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 chr 9:14,308,956...14,316,959
Ensembl chr 9:14,308,982...14,316,110
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 chr 9:14,840,115...14,852,950
Ensembl chr 9:14,840,115...14,860,062
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 chr 9:14,547,073...14,554,354
Ensembl chr 9:14,547,849...14,553,921
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 chr 3:78,421,925...78,429,603
Ensembl chr 3:78,421,933...78,428,520
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 chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
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 chr 9:13,491,892...13,511,713
Ensembl chr 9:13,491,937...13,511,717
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 chr 9:14,098,855...14,100,043
Ensembl chr 9:14,098,868...14,100,042
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 chr 9:13,198,890...13,254,726
Ensembl chr 9:13,198,891...13,254,714
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 chr 9:14,701,418...14,725,623
Ensembl chr 9:14,701,468...14,725,751
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 chr 9:13,304,269...13,305,637 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 chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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 chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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 chr 9:12,694,453...12,705,379
Ensembl chr 9:12,694,697...12,705,324
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 chr 9:12,718,968...12,743,879
Ensembl chr 9:12,721,815...12,743,253
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 chr 9:13,631,619...13,858,326
Ensembl chr 9:13,634,126...13,857,029
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 chr 9:14,493,166...14,538,372
Ensembl chr 9:14,493,389...14,535,774
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 chr 9:13,982,427...14,062,315
Ensembl chr 9:13,982,329...14,062,139
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 chr 9:13,305,640...13,366,132
Ensembl chr 9:13,308,178...13,366,132
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 chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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 chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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 chr 9:14,730,289...14,735,644
Ensembl chr 9:14,730,284...14,735,641
JBrowse link
G Zfp318 zinc finger protein 318 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,562,958...14,601,557
Ensembl chr 9:14,563,313...14,601,409
JBrowse link
mevalonic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein disease_progression ISO RGD PMID:7780142 RGD:9585642 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Mevalonic aciduria ClinVar PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1377680 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 More... NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:7780142 RGD:9585642 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Mevalonic aciduria ClinVar PMID:28492532 NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
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 chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
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
ISS
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
OMIM:264470
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 More... NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar NCBI chr10:101,431,328...101,455,105
Ensembl chr10:101,431,328...101,453,052
JBrowse link
peroxisomal biogenesis disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex1 peroxisomal biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9398847 PMID:9398848 PMID:9539740 NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9683594 PMID:9700193 PMID:10862081 NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9090384 NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10332040 PMID:10441568 PMID:19449432 NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146459 PMID:18285423 PMID:20647552 NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11890679 PMID:12223482 NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20683989 NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608
JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1546315 PMID:10528859 NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10942428 NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX5 defect ClinVar PMID:25741868 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8940266 PMID:10408779 NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
JBrowse link
peroxisome biogenesis disorder 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: PEX3-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10A (Zellweger)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7562283 PMID:9536098 PMID:10942428 PMID:10958759 PMID:10968777 More... NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
JBrowse link
Peroxisome biogenesis disorder 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex3 peroxisomal biogenesis factor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10B
OMIM
CTD
ClinVar
PMID:25741868 PMID:27557811 PMID:28492532 NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
JBrowse link
peroxisome biogenesis disorder 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14h2orf74 similar to human chromosome 2 open reading frame 74 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:28492532 NCBI chr14:97,493,579...97,496,697
Ensembl chr14:97,493,658...97,496,679
JBrowse link
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:28492532 NCBI chr14:97,009,449...97,027,865
Ensembl chr14:97,009,491...97,028,588
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)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9480815 PMID:9536098 PMID:10332040 PMID:10441568 PMID:16006427 More... NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:9536098 PMID:10332040 PMID:16199547 PMID:17576681 PMID:19449432 More... NCBI chr14:97,621,228...97,684,059
Ensembl chr14:97,621,391...97,684,046
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 chr14:97,516,652...97,585,955
Ensembl chr14:97,516,413...97,581,346
JBrowse link
G Usp34 ubiquitin specific peptidase 34 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:28492532 NCBI chr14:97,285,799...97,476,376
Ensembl chr14:97,286,018...97,476,376
JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:28492532 NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11B
OMIM
CTD
ClinVar
PMID:9480815 PMID:10332040 PMID:10441568 PMID:16006427 PMID:17041890 More... NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11B ClinVar PMID:25741868 PMID:28492532 NCBI chr14:97,621,228...97,684,059
Ensembl chr14:97,621,391...97,684,046
JBrowse link
peroxisome biogenesis disorder 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 chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687
JBrowse link
G Casq1 calsequestrin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339
JBrowse link
G Copa COPI coat complex subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874
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 chr13:84,609,838...84,667,025
Ensembl chr13:84,610,248...84,669,726
JBrowse link
G Ncstn nicastrin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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 chr13:84,657,815...84,667,437
Ensembl chr13:84,654,870...84,667,499
JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger)
OMIM
CTD
ClinVar
PMID:9536098 PMID:10051604 PMID:16199547 PMID:17576681 PMID:20683989 More... NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608
JBrowse link
peroxisome biogenesis disorder 13A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex14 peroxisomal biogenesis factor 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 13A (Zellweger)
OMIM
CTD
ClinVar
PMID:15146459 PMID:18285423 PMID:25741868 PMID:28492532 NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272
JBrowse link
peroxisome biogenesis disorder 14B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex11b peroxisomal biogenesis factor 11 beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PEX11B-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 14B
OMIM
CTD
ClinVar
PMID:10704444 PMID:20826455 PMID:22581968 PMID:25741868 PMID:28129423 More... NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495
JBrowse link
peroxisome biogenesis disorder 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:11389485 PMID:12032265 More... NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a OMIM
ClinVar
PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:28492532 NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:28492532 NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608
JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:16257970 PMID:25741868 PMID:28492532 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:7562283 PMID:10958759 PMID:10968777 PMID:25741868 NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:10408779 PMID:19877282 PMID:25525159 PMID:25741868 PMID:26467025 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr14:97,621,228...97,684,059
Ensembl chr14:97,621,391...97,684,046
JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:30,559,063...30,569,409
Ensembl chr 4:30,559,087...30,569,406
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
JBrowse link
peroxisome biogenesis disorder 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 chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B OMIM
ClinVar
PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2A (Zellweger)
OMIM
CTD
ClinVar
PMID:7719337 PMID:9536098 PMID:17576681 PMID:18712838 PMID:21031596 More... NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:25741868 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
JBrowse link
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341
JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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 chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,668,878...157,695,366 JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
JBrowse link
G Clec4a1 C-type lectin domain family 4, member A1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008
JBrowse link
G Clec4a3 C-type lectin domain family 4, member A3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817
JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240
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 chr 4:156,589,591...156,599,279
Ensembl chr 4:156,589,792...156,598,848
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 chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767
JBrowse link
G Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605
Ensembl chr 4:156,539,408...156,558,605
JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769
JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948
JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861
Ensembl chr 5:155,815,296...155,854,861
JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
JBrowse link
G Fam90a1a family with sequence similarity 90 member A1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr16:70,098,439...70,106,147
Ensembl chr16:70,098,740...70,101,241
JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,662,200...157,668,341
Ensembl chr 4:157,662,200...157,668,121
JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,551,276...157,552,924 JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302
JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265
JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404
JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,870,493...157,883,979
Ensembl chr 4:157,881,796...157,882,950
JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880
JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860
JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458
JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,523,679...157,523,747 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,739,651...157,744,325
Ensembl chr 4:157,728,756...157,744,317
JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,991,756...157,994,715
Ensembl chr 4:157,992,408...157,995,414
JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116
JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020
JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:156,103,935...156,119,068
Ensembl chr 4:156,103,988...156,119,068
JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,932,731...157,944,462
Ensembl chr 4:157,932,716...157,944,459
JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:157,646,243...157,662,035
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7719337 PMID:9536098 PMID:10462504 PMID:16199547 PMID:17532062 More... NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272
JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,796,425...157,804,842
Ensembl chr 4:157,798,808...157,804,842
JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,722,384...157,726,575
Ensembl chr 4:157,722,386...157,727,009
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
JBrowse link
G Rimklb ribosomal modification protein rimK-like family member B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,664,392...155,706,888
Ensembl chr 4:155,664,375...155,706,711
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,613,404...157,615,293
Ensembl chr 4:157,613,401...157,615,284
JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,021,454...158,028,905 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,619,663...157,634,681
Ensembl chr 4:157,619,643...157,634,711
JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349
JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,810,263...157,840,052
Ensembl chr 4:157,810,352...157,839,766
JBrowse link
peroxisome biogenesis disorder 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2b1 adaptor related protein complex 2 subunit beta 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chr10:68,099,397...68,205,023
Ensembl chr10:68,099,547...68,205,013
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 chr10:68,222,475...68,229,877
Ensembl chr10:68,222,475...68,229,881
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)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9090384 PMID:9354782 PMID:9536098 PMID:9632816 PMID:9792857 More... NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428
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 chr10:68,209,761...68,222,118
Ensembl chr10:68,210,275...68,220,376
JBrowse link
G Slfn14 schlafen family member 14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chr10:68,076,326...68,087,794 JBrowse link
G Slfn2 schlafen family member 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chr10:67,953,322...67,959,659
Ensembl chr10:67,953,171...67,959,458
JBrowse link
G Slfn4 schlafen family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chr10:67,994,601...68,018,141
Ensembl chr10:68,000,028...68,018,138
Ensembl chr10:68,000,028...68,018,138
JBrowse link
G Slfn5 schlafen family member 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chr10:67,881,068...67,895,013
Ensembl chr10:67,880,009...67,893,109
JBrowse link
G Slfn9 schlafen family member 9 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chr10:67,909,105...67,955,912
Ensembl chr10:67,909,106...67,925,383
JBrowse link
G Unc45b unc-45 myosin chaperone B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chr10:67,845,464...67,873,143
Ensembl chr10:67,845,462...67,873,389
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 chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428
JBrowse link
G Pfkm phosphofructokinase, muscle ISO ClinVar Annotator: match by term: Peroxisomal biogenesis disorder 3b ClinVar PMID:9792857 NCBI chr 7:129,221,679...129,259,192
Ensembl chr 7:129,221,653...129,259,192
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)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
JBrowse link
Peroxisome biogenesis disorder 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4B
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
JBrowse link
peroxisome biogenesis disorder 5A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5A (Zellweger)
OMIM
CTD
ClinVar
PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 More... NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404
JBrowse link
Peroxisome biogenesis disorder 5B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5B
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1546315 PMID:7541833 PMID:7681622 PMID:7931872 PMID:9452066 More... NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404
JBrowse link
peroxisome biogenesis disorder 6A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7565793 PMID:8982949 PMID:9536098 PMID:9683594 PMID:9700193 More... NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger) ClinVar NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
JBrowse link
Peroxisome biogenesis disorder 6B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex10 peroxisomal biogenesis factor 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6B
OMIM
CTD
ClinVar
PMID:8982949 PMID:9683594 PMID:9700193 PMID:10527683 PMID:10862081 More... NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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 chr 4:154,152,776...154,353,274
Ensembl chr 4:154,153,834...154,302,590
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9090381 PMID:9536098 PMID:12717447 PMID:12851857 PMID:15542397 More... NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) ClinVar PMID:12851857 PMID:21031596 PMID:28492532 NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7B
OMIM
CTD
ClinVar
PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 More... NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
JBrowse link
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 chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
PMID:9536098 PMID:9837814 PMID:11890679 PMID:17576681 PMID:20647552 More... NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
JBrowse link
Peroxisome biogenesis disorder 8B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex16 peroxisomal biogenesis factor 16 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8B
OMIM
CTD
ClinVar
PMID:20647552 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26633545 More... NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
JBrowse link
Peroxisome biogenesis disorder 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 More... NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
JBrowse link
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 chr 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481
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 chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
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 chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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 chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
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 chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A 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 chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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 chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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 chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 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 chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
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 chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
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 chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
JBrowse link
G Cdk11b cyclin-dependent kinase 11B 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 chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
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 chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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 chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
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 chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
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 chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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 chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
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 chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
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 chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
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 chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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 chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
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 chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
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 chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
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 chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
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 chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
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 chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
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 chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
JBrowse link
G Mir200a microRNA 200a 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 chr 5:166,648,494...166,648,582 JBrowse link
G Mir200b microRNA 200b 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 chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
JBrowse link
G Mir429 microRNA 429 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 chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
JBrowse link
G Mmel1 membrane metallo-endopeptidase-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 chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
JBrowse link
G Mmp23 matrix metallopeptidase 23 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 chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
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 chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
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 chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
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 chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
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 chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
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 chr 5:166,820,150...166,831,949
Ensembl chr 5:166,820,161...166,831,949
JBrowse link
G Pank4 pantothenate kinase 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 chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
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 chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
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 chr 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155
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 chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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 chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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 chr 5:165,462,610...165,465,213 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 chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611
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 chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
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 chr 5:166,723,346...166,726,236
Ensembl chr 5:166,724,984...166,725,751
JBrowse link
G Samd11 sterile alpha motif domain containing 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 chr 5:166,831,681...166,859,805
Ensembl chr 5:166,831,663...166,850,009
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 chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
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 chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
JBrowse link
G Slc35e2b solute carrier family 35, member E2B 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 chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
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 chr 5:164,579,327...164,584,650 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 chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
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 chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742
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 chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
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 chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433
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 chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
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 chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
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 chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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 chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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 chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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 chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
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... NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
JBrowse link
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 chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
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 chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
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 chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
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 chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
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 C5h1orf127 similar to human chromosome 1 open reading frame 127 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K ClinVar PMID:28492532 NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
JBrowse link
G Casz1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K ClinVar PMID:28492532 NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400
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 chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K ClinVar PMID:9536098 PMID:15146459 PMID:16199547 PMID:17576681 PMID:18285423 More... NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272
JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K ClinVar PMID:28492532 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
JBrowse link
Pseudo-Zellweger Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO ClinVar Annotator: match by term: Pseudo Zellweger syndrome ClinVar PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 More... NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
JBrowse link
Refsum disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Phytanic acid storage disease
CTD
ClinVar
PMID:1773541 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9536098 More... NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO
ISS
ClinVar Annotator: match by term: PHYH-related condition | ClinVar Annotator: match by term: Phytanic acid oxidase deficiency | ClinVar Annotator: match by term: Phytanic acid storage disease | ClinVar Annotator: match by term: Refsum syndrome
OMIM:266500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:1155634 PMID:9326939 PMID:9326940 PMID:9536098 PMID:9657395 More... RGD:13831337, RGD:13831313 NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
JBrowse link
retinal dystrophy with leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Retinal dystrophy with leukodystrophy OMIM
ClinVar
PMID:23105016 PMID:25741868 PMID:28492532 NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215
JBrowse link
rhizomelic chondrodysplasia punctata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agps alkylglycerone phosphate synthase ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:28492532 More... RGD:1300366 NCBI chr 3:60,747,323...60,845,831
Ensembl chr 3:60,747,323...60,845,830
JBrowse link
G Gnpat glyceronephosphate O-acyltransferase ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar PMID:9536089 PMID:11237722 PMID:25741868 PMID:28492532 NCBI chr19:52,822,326...52,848,872
Ensembl chr19:52,822,319...52,852,361
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar PMID:26220973 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chondrodysplasia punctata rhizomelic form | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata
CTD
ClinVar
PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 More... NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
JBrowse link
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
ISS
ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 9 | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1
OMIM:215100
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 More... RGD:13208515 NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
JBrowse link
rhizomelic chondrodysplasia punctata type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnpat glyceronephosphate O-acyltransferase ISO
ISS
ClinVar Annotator: match by term: GNPAT-related condition | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 2
OMIM:222765
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:1405476 PMID:7530787 PMID:9536089 PMID:9536098 PMID:9843043 More... NCBI chr19:52,822,326...52,848,872
Ensembl chr19:52,822,319...52,852,361
JBrowse link
rhizomelic chondrodysplasia punctata type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agps alkylglycerone phosphate synthase ISO
ISS
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 3
OMIM:600121
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:7807941 PMID:9536098 PMID:9553082 PMID:11152660 PMID:17576681 More... NCBI chr 3:60,747,323...60,845,831
Ensembl chr 3:60,747,323...60,845,830
JBrowse link
rhizomelic chondrodysplasia punctata type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex5 peroxisomal biogenesis factor 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5
OMIM
CTD
ClinVar
PMID:25741868 PMID:26220973 PMID:28492532 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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 chr 1:167,644,622...167,705,868
Ensembl chr 1:167,644,677...167,705,730
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 chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
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G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404
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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 chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:30,559,063...30,569,409
Ensembl chr 4:30,559,087...30,569,406
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Zellweger syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position