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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:adrenoleukodystrophy
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Accession:DOID:10588 term browser browse the term
Definition:A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. (DO)
Synonyms:exact_synonym: ALD;   ALD (adrenoleukodystrophy);   Addison disease and cerebral sclerosis;   Bronze Schilder disease;   Encephalitis periaxialis concentrica;   Encephalitis periaxialis, Schilder's;   Schilder Addison Complex;   Siemerling Creutzfeldt disease;   X-ALD;   X-ALD (X-linked adrenoleukodystrophy);   X-linked adrenoleukodystrophy;   diffuse sclerosis;   melanodermic leukodystrophies;   melanodermic leukodystrophy;   sudanophilic cerebral sclerosis
 narrow_synonym: X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY
 broad_synonym: ABCD1-RELATED CONDITION
 related_synonym: AMN;   adrenomyeloneuropathy
 xref: ICD10CM:E71.52;   MESH:D000326;   MIM:300100;   MONDO:0018544;   NCI:C61252
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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: ABCD1-related condition | 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
OMIM
CTD
RGD		 PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 More... RGD:1598655 NCBI chr  X:156,579,669...156,601,448
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:11379875 PMID:11748843 PMID:11968085 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:156,367,582...156,464,085
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,231,243...157,238,323
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,785,009...156,787,477
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,548,911...156,581,002
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:156,348,633...156,360,797
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 9:2,073,927...2,076,469
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 chr20:154,630...169,655
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:11379875 PMID:11748843 PMID:11968085 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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,751,651...157,757,796 JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,208,230...157,216,812
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,190,438...157,193,479
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 chr18:155,237...187,186
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:155,977,859...155,979,373
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,317,993...157,326,640
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,246,533...157,253,650
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,159,051...157,185,559
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 chr18:142,829...155,123
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,352,364...157,372,144
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,238,900...157,245,562
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:86,566,994...86,567,568
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,839,100...156,864,132
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 chr19:13,452,365...13,479,823
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:11379875 PMID:11748843 PMID:11968085 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 7:55,789,180...55,793,216
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,358,279...157,397,563
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,919,927...156,929,825
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,748,597...156,775,116
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,289,497...157,290,920
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,932,481...156,995,981
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 8:12,974,707...12,982,613
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 chr19:30,327,643...30,355,856
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 3:174,103,474...174,111,434
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,817,301...155,848,224
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:11379875 PMID:11748843 PMID:11968085 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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,681,717...156,712,031
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 chr14:101,804,673...101,822,367
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,266,986...157,282,896
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:11379875 PMID:11748843 PMID:11968085 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:11379875 PMID:11748843 PMID:11968085 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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,205,850...157,208,057
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:11379875 PMID:11748843 PMID:11968085 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:11379875 PMID:11748843 PMID:11968085 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 1:50,043,323...50,050,168
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,661,888...156,666,537
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,675,658...156,679,545
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:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,216,826...157,230,524
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:11379875 PMID:11748843 PMID:11968085 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:3,766,509...3,772,578
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:11379875 PMID:11748843 PMID:11968085 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:156,303,203...156,304,811
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:11379875 PMID:11748843 PMID:11968085 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:156,268,220...156,293,790
Ensembl chr  X:151,117,102...151,143,177 		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: ACOX1-related condition | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: ACOX1-related disorder | 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 chr10:101,905,083...101,930,136
Ensembl chr10:101,406,197...101,431,232 		JBrowse link
G Fbf1 Fas binding factor 1 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr10:101,874,661...101,900,497
Ensembl chr10:101,375,775...101,401,644 		JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr10:101,742,067...101,746,244
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G H3f3b H3.3 histone B ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr10:101,755,404...101,764,616
Ensembl chr10:101,256,480...101,258,709
Ensembl chr13:101,256,480...101,258,709 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
G Mrpl38 mitochondrial ribosomal protein L38 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr10:101,365,353...101,372,159
Ensembl chr10:101,365,353...101,372,171 		JBrowse link
G Ten1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:8040306 PMID:17458872 PMID:25741868 PMID:28492532 NCBI chr10:101,930,212...101,951,932
Ensembl chr10:101,431,328...101,453,052 		JBrowse link
G Trim47 tripartite motif-containing 47 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr10:101,337,573...101,342,044
Ensembl chr10:101,337,573...101,342,044 		JBrowse link
G Trim65 tripartite motif-containing 65 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr10:101,847,822...101,863,052
Ensembl chr10:101,357,937...101,364,971 		JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr10:101,795,652...101,810,409
Ensembl chr10:101,296,776...101,311,687 		JBrowse link
G Unk unk zinc finger ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr10:101,265,732...101,295,950
Ensembl chr10:101,265,703...101,295,967 		JBrowse link
G Wbp2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr10:101,811,308...101,819,766
Ensembl chr10:101,312,446...101,320,736 		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:156,579,669...156,601,448
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 4:159,537,395...159,550,454
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 1:183,485,259...183,509,712
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,446,120...157,455,958
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,472,879...157,500,496
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 4:159,240,573...159,254,378
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,099,013...159,109,770
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,080,495...159,097,066
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,116,549...159,128,736
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,747,419...157,756,609
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:158,770,751...158,804,146
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 4:159,716,932...159,721,823
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 4:159,355,147...159,381,636
Ensembl chr 4:157,668,878...157,695,191 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,321,203...159,325,072
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 4:159,584,623...159,617,867
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,845,811...157,857,926
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,885,899...157,896,728
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:158,148,434...158,171,933
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:158,275,287...158,286,978
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:158,292,624...158,298,607
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:158,225,100...158,244,722
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,017,795...159,051,069
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 4:159,452,878...159,478,878
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,523,426...157,526,810
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,195,545...159,203,826
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 4:159,258,371...159,267,220
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr16:76,801,218...76,808,469
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,718,990...157,745,468
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 4:159,648,592...159,653,436
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,503,547...157,507,923
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 4:159,325,741...159,331,443
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 4:159,348,465...159,354,577
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,237,562...159,239,223 JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,631,309...159,648,531
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 4:159,528,183...159,536,762
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 4:159,398,930...159,407,001
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 4:159,556,735...159,570,216
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,154,690...159,196,176
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 4:159,267,572...159,277,764
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 4:159,795,115...159,801,571
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,399,919...157,422,448
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,209,525...159,209,618
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,209,965...159,210,033 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,425,542...159,430,584
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 4:159,677,988...159,681,650
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,615,687...157,623,061
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 4:159,655,051...159,677,938
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,775,890...157,790,992
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 4:159,618,894...159,630,697
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 4:159,332,514...159,348,428
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 OMIM
ClinVar		 PMID:7719337 PMID:9536098 PMID:10462504 PMID:16199547 PMID:17532062 More... NCBI chr 4:158,956,973...158,983,581
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,203,948...159,208,561
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 4:159,482,678...159,491,085
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 4:159,408,647...159,412,837
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:159,212,320...159,237,069
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,336,950...157,396,970
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 4:159,809,187...159,832,409
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:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 4:157,632,887...157,698,034
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 4:159,298,362...159,301,568
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 4:159,707,686...159,715,137 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:159,837,119...159,849,817
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 4:159,301,558...159,305,088
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 4:159,305,927...159,321,345
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 4:159,698,894...159,705,582
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 4:159,496,481...159,526,010
Ensembl chr 4:157,810,352...157,839,766 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      endocrine system disease 7037
        adrenal gland disease 278
          Adrenal Insufficiency 191
            adrenoleukodystrophy 146
              peroxisomal acyl-CoA oxidase deficiency 12
              peroxisome biogenesis disorder 2B 65
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            disease of mental health 8454
              developmental disorder of mental health 5648
                specific developmental disorder 4610
                  intellectual disability 4383
                    X-Linked Intellectual Developmental Disorders 825
                      adrenoleukodystrophy 146
                        peroxisomal acyl-CoA oxidase deficiency 12
                        peroxisome biogenesis disorder 2B 65
paths to the root