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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 biogenesis disorder
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Accession:DOID:0080377 term browser browse the term
Definition:A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes. (DO)
Synonyms:exact_synonym: peroxisome biogenesis disorders
 primary_id: MESH:C536664
 xref: OMIM:PS214100
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
peroxisomal biogenesis disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex1 peroxisomal biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders
CTD
ClinVar
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:9539740 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16141001 PMID:17055079 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21846392 PMID:22871920 PMID:23757202 PMID:24503136 PMID:25412400 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26387595 PMID:26643206 PMID:27090541 PMID:27872819 PMID:27882258 PMID:28468868 PMID:28492532 PMID:30362618 PMID:31319225 PMID:31374812 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders
CTD
ClinVar
PMID:9683594 PMID:9700193 PMID:10862081 PMID:12794690 PMID:17041890 PMID:19142205 PMID:21031596 PMID:28492532 NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9090384 NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10332040 PMID:10441568 PMID:19449432 NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146459 PMID:18285423 PMID:20647552 NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11890679 PMID:12223482 NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20683989 NCBI chr13:90,514,324...90,530,825
Ensembl chr13:90,514,336...90,530,349
Ensembl chr18:90,514,336...90,530,349
JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1546315 PMID:10528859 NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10942428 NCBI chr 1:7,685,209...7,726,238
Ensembl chr 1:7,685,338...7,726,401
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders
CTD
ClinVar
PMID:8940266 PMID:10408779 PMID:11873320 PMID:19105186 PMID:19877282 PMID:27302843 PMID:28492532 PMID:29220678 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
Adult Refsum Disease, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B
ClinVar Annotator: match by OMIM:614879
OMIM
ClinVar
PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9472033 PMID:9536098 PMID:9686382 PMID:10083738 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12325024 PMID:12522768 PMID:14974078 PMID:17325280 PMID:17576681 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:23352163 PMID:23572185 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26408048 PMID:26467025 PMID:26587300 PMID:28492532 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
JBrowse link
Heimler syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects ClinVar PMID:12032265 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:19105186 PMID:21031596 PMID:21846392 PMID:25525159 PMID:25741868 PMID:26387595 PMID:27302843 PMID:28492532 PMID:30733538 PMID:31374812 PMID:31831025 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects ClinVar
OMIM
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:17055079 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21846392 PMID:22871920 PMID:23757202 PMID:24503136 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26387595 PMID:26643206 PMID:27090541 PMID:27302843 PMID:27872819 PMID:27882258 PMID:28454995 PMID:28468868 PMID:28492532 PMID:30362618 PMID:30733538 PMID:31374812 PMID:31831025 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
Heimler syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Heimler syndrome 2
ClinVar Annotator: match by OMIM:616617
OMIM
ClinVar
PMID:11873320 PMID:15542397 PMID:16530715 PMID:19105186 PMID:19142205 PMID:19877282 PMID:21031596 PMID:22871920 PMID:24016303 PMID:25079577 PMID:25741868 PMID:26387595 PMID:26593283 PMID:26943801 PMID:27302843 PMID:27848944 PMID:28492532 PMID:29220678 PMID:31831025 PMID:32399598 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
infantile Refsum disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B ClinVar PMID:9398847 PMID:9398848 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16141001 PMID:19105186 PMID:21031596 PMID:25525159 PMID:25741868 PMID:27353947 PMID:27848944 PMID:28446956 PMID:28492532 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B
ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL
ClinVar Annotator: match by OMIM:601539
OMIM
ClinVar
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16141001 PMID:17055079 PMID:19105186 PMID:19877282 PMID:20952722 PMID:21031596 PMID:21846392 PMID:22871920 PMID:23757202 PMID:24503136 PMID:25133751 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26643206 PMID:27090541 PMID:27353947 PMID:27848944 PMID:27872819 PMID:27882258 PMID:28446956 PMID:28468868 PMID:28492532 PMID:30362618 PMID:31374812 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Infantile Refsum's disease ClinVar PMID:2122101 PMID:9090384 PMID:9632816 PMID:9792857 PMID:10527683 PMID:10562279 PMID:10837480 PMID:11370741 PMID:14571262 PMID:14630978 PMID:15184617 PMID:15542397 PMID:17534573 PMID:19105186 PMID:19127411 PMID:19877282 PMID:21031596 PMID:21465523 PMID:22471590 PMID:24033266 PMID:24627108 PMID:25287621 PMID:25326635 PMID:25741868 PMID:26094004 PMID:26643206 PMID:27124789 PMID:27763634 PMID:28492532 PMID:29389947 NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10528859 NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ClinVar PMID:16530715 PMID:19105186 PMID:19877282 PMID:21031596 PMID:25079577 PMID:25741868 PMID:26387595 PMID:26943801 PMID:27302843 PMID:27848944 PMID:28492532 PMID:31831025 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
peroxisome biogenesis disorder 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10A
ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
OMIM
ClinVar
PMID:7562283 PMID:10942428 PMID:10958759 PMID:10968777 PMID:25741868 PMID:28492532 NCBI chr 1:7,685,209...7,726,238
Ensembl chr 1:7,685,338...7,726,401
JBrowse link
Peroxisome Biogenesis Disorder 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 10B
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10b
ClinVar
OMIM
PMID:25741868 PMID:27557811 NCBI chr 1:7,685,209...7,726,238
Ensembl chr 1:7,685,338...7,726,401
JBrowse link
peroxisome biogenesis disorder 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A
ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
ClinVar Annotator: match by OMIM:614883
OMIM
ClinVar
PMID:10332040 PMID:19449432 PMID:21031596 PMID:25741868 PMID:28492532 NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A ClinVar PMID:25741868 PMID:28492532 NCBI chr14:108,411,941...108,479,696
Ensembl chr14:108,412,152...108,479,781
JBrowse link
Peroxisome Biogenesis Disorder 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by OMIM:614885 OMIM
ClinVar
PMID:9480815 PMID:10332040 PMID:10441568 PMID:17041890 NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
peroxisome biogenesis disorder 12A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A
ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
ClinVar Annotator: match by OMIM:614886
OMIM
ClinVar
PMID:9536098 PMID:10051604 PMID:17576681 PMID:20683989 PMID:25741868 PMID:28281558 PMID:28492532 NCBI chr13:90,514,324...90,530,825
Ensembl chr13:90,514,336...90,530,349
Ensembl chr18:90,514,336...90,530,349
JBrowse link
peroxisome biogenesis disorder 13A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 13A
ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
OMIM
ClinVar
PMID:15146459 PMID:18285423 PMID:25741868 PMID:28492532 NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
JBrowse link
Peroxisome Biogenesis Disorder 14B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 14B
ClinVar Annotator: match by OMIM:614920
OMIM
ClinVar
PMID:22581968 PMID:25741868 PMID:31724321 NCBI chr 2:198,762,138...198,771,040
Ensembl chr 2:198,762,138...198,771,026
JBrowse link
peroxisome biogenesis disorder 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger)
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a
ClinVar PMID:9398847 PMID:9398848 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:25326635 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:28446956 PMID:28492532 PMID:30733538 PMID:30755224 PMID:31374812 PMID:31831025 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger)
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a
OMIM
ClinVar
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:9539740 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:11439091 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:17055079 PMID:19105186 PMID:19877282 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:22871920 PMID:23247051 PMID:23757202 PMID:24033266 PMID:24503136 PMID:25133751 PMID:25326635 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26594346 PMID:26643206 PMID:27090541 PMID:27231023 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:27872819 PMID:27882258 PMID:28446956 PMID:28454995 PMID:28468868 PMID:28492532 PMID:30362618 PMID:30561787 PMID:30733538 PMID:30755224 PMID:31374812 PMID:31831025 PMID:32214227 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr13:90,514,324...90,530,825
Ensembl chr13:90,514,336...90,530,349
Ensembl chr18:90,514,336...90,530,349
JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:16257970 PMID:25741868 PMID:28492532 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:7562283 PMID:10958759 PMID:10968777 PMID:25741868 NCBI chr 1:7,685,209...7,726,238
Ensembl chr 1:7,685,338...7,726,401
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:10408779 PMID:19877282 PMID:25525159 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr14:108,411,941...108,479,696
Ensembl chr14:108,412,152...108,479,781
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:172,476,746...172,488,822
Ensembl chr 5:172,476,747...172,488,822
JBrowse link
peroxisome biogenesis disorder 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2A (Zellweger)
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2a (zellweger)
OMIM
ClinVar
PMID:7719337 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26344566 PMID:28492532 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,563,990...157,577,045
Ensembl chr 4:157,563,990...157,568,023
JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755
JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,108,190...157,122,689
Ensembl chr 4:157,107,469...157,123,446
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,744,881...157,751,609
Ensembl chr 4:157,744,882...157,750,088
JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,347,876...157,351,889
Ensembl chr 4:157,348,020...157,351,604
JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,612,531...157,645,660
Ensembl chr 4:157,612,536...157,645,659
JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,044,736...157,078,013
Ensembl chr 4:157,043,925...157,078,130
JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,479,549...157,486,944
Ensembl chr 4:157,479,549...157,486,914
JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647
JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
Ensembl chr 9:157,285,179...157,294,047
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,375,184...157,381,780
Ensembl chr 4:157,375,184...157,381,105
JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,264,383...157,266,042
Ensembl chr 4:157,264,383...157,266,018
Ensembl chr 9:157,264,383...157,266,018
JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,659,115...157,676,335
Ensembl chr 4:157,659,147...157,676,331
JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,554,729...157,563,353
Ensembl chr 4:157,554,794...157,563,352
JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,425,644...157,433,700
Ensembl chr 4:157,425,644...157,433,467
JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,581,000...157,596,454
Ensembl chr 4:157,594,436...157,595,972
JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,181,722...157,222,997
Ensembl chr 4:157,181,795...157,222,996
JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,294,386...157,304,590
Ensembl chr 4:157,294,287...157,304,653
Ensembl chr 9:157,294,287...157,304,653
JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,822,838...157,829,291
Ensembl chr 4:157,822,840...157,829,241
JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,236,346...157,236,439
Ensembl chr 4:157,236,346...157,236,439
JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,236,786...157,236,854 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,452,578...157,457,254
Ensembl chr 4:157,452,607...157,457,249
JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,705,790...157,709,452
Ensembl chr 4:157,705,790...157,708,748
JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,682,855...157,705,903
Ensembl chr 4:157,683,077...157,704,596
JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,646,759...157,658,502
Ensembl chr 4:157,647,082...157,658,390
JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,359,331...157,375,186
Ensembl chr 4:157,359,332...157,372,861
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B OMIM
ClinVar
PMID:7719337 PMID:9536098 PMID:17576681 PMID:18712838 PMID:25741868 PMID:26344566 PMID:27290639 PMID:28492532 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,230,769...157,235,375
Ensembl chr 4:157,230,769...157,235,367
JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,508,862...157,517,676
Ensembl chr 4:157,511,642...157,517,669
JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,435,371...157,439,507
Ensembl chr 4:157,435,373...157,439,507
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
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 4:157,325,980...157,328,380
Ensembl chr 4:157,326,727...157,328,379
Ensembl chr 9:157,326,727...157,328,379
JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
Ensembl chr 9:157,328,379...157,331,905
JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,332,735...157,347,803
Ensembl chr 4:157,332,740...157,347,803
JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,726,941...157,733,644
Ensembl chr 4:157,726,941...157,733,643
JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 4:157,523,083...157,552,606
Ensembl chr 4:157,523,110...157,552,596
JBrowse link
peroxisome biogenesis disorder 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A OMIM
ClinVar
PMID:9090384 PMID:9354782 PMID:9536098 PMID:9632816 PMID:9792857 PMID:10527683 PMID:10562279 PMID:10837480 PMID:12032265 PMID:14571262 PMID:14630978 PMID:15184617 PMID:15241794 PMID:15542397 PMID:17534573 PMID:17576681 PMID:19105186 PMID:19127411 PMID:19877282 PMID:21031596 PMID:21465523 PMID:24033266 PMID:24627108 PMID:25287621 PMID:25326635 PMID:25741868 PMID:26094004 PMID:27124789 PMID:28492532 PMID:29389947 NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
JBrowse link
Peroxisome Biogenesis Disorder 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisomal biogenesis disorder 3b OMIM
ClinVar
PMID:2122101 PMID:9632816 PMID:9792857 PMID:10527683 PMID:10562279 PMID:10837480 PMID:12032265 PMID:14571262 PMID:15184617 PMID:15241794 PMID:15542397 PMID:19127411 PMID:21031596 PMID:21465523 PMID:24627108 PMID:25741868 PMID:28492532 NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
JBrowse link
peroxisome biogenesis disorder 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4a (zellweger)
ClinVar Annotator: match by OMIM:614862
OMIM
ClinVar
PMID:8670792 PMID:8940266 PMID:10408779 PMID:11004248 PMID:11355018 PMID:15542397 PMID:15858711 PMID:16530715 PMID:17190851 PMID:19105186 PMID:19142205 PMID:19877282 PMID:21031596 PMID:22871920 PMID:22894767 PMID:23757202 PMID:24016303 PMID:24459294 PMID:25079577 PMID:25525159 PMID:25741868 PMID:26094004 PMID:26275793 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26593283 PMID:26700162 PMID:26943801 PMID:27302843 PMID:27848944 PMID:28492532 PMID:29220678 PMID:31831025 PMID:32399598 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
Peroxisome Biogenesis Disorder 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4B
ClinVar Annotator: match by OMIM:614863
OMIM
ClinVar
PMID:3515938 PMID:11355018 PMID:15542397 PMID:16530715 PMID:19105186 PMID:19142205 PMID:19877282 PMID:21031596 PMID:21937992 PMID:22871920 PMID:24016303 PMID:25079577 PMID:25741868 PMID:26275793 PMID:26387595 PMID:26943801 PMID:27302843 PMID:27848944 PMID:28492532 PMID:29220678 PMID:31831025 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
peroxisome biogenesis disorder 5A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5a (zellweger)
ClinVar Annotator: match by OMIM:614866
OMIM
ClinVar
PMID:1546315 PMID:2454948 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 PMID:10528859 PMID:10652207 PMID:14630978 PMID:15542397 PMID:17041890 PMID:21031596 PMID:21465523 PMID:23430938 PMID:23590336 PMID:23829372 PMID:25741868 PMID:28089346 PMID:28492532 PMID:32860008 NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
JBrowse link
Peroxisome Biogenesis Disorder 5B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5B
ClinVar Annotator: match by OMIM:614867
OMIM
ClinVar
PMID:1546315 PMID:2454948 PMID:7541833 PMID:7681622 PMID:7931872 PMID:9452066 PMID:9585609 PMID:10528859 PMID:14630978 PMID:15542397 PMID:21031596 PMID:21392394 PMID:21465523 PMID:23430938 PMID:23590336 PMID:23829372 PMID:25741868 PMID:28089346 PMID:28492532 NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
JBrowse link
peroxisome biogenesis disorder 6A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A
ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
OMIM
ClinVar
PMID:7565793 PMID:9683594 PMID:9700193 PMID:10862081 PMID:12794690 PMID:15542397 PMID:17041890 PMID:17702006 PMID:19105186 PMID:19127411 PMID:19142205 PMID:20695019 PMID:21031596 PMID:24033266 PMID:25179809 PMID:25525159 PMID:25741868 PMID:26319495 PMID:27230853 PMID:28492532 PMID:30640048 NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) ClinVar PMID:20695019 PMID:21031596 PMID:25179809 NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A ClinVar NCBI chr 5:172,476,746...172,488,822
Ensembl chr 5:172,476,747...172,488,822
JBrowse link
Peroxisome Biogenesis Disorder 6B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6B
ClinVar Annotator: match by OMIM:614871
OMIM
ClinVar
PMID:8982949 PMID:9683594 PMID:9700193 PMID:10862081 PMID:12794690 PMID:15542397 PMID:17041890 PMID:17702006 PMID:19105186 PMID:19127411 PMID:19142205 PMID:20695019 PMID:21031596 PMID:21465523 PMID:25525159 PMID:26319495 PMID:27230853 PMID:28492532 PMID:30640048 NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6B ClinVar PMID:15542397 PMID:19105186 PMID:20695019 PMID:21031596 PMID:21465523 PMID:30640048 NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
JBrowse link
peroxisome biogenesis disorder 7A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A ClinVar PMID:28492532 NCBI chr 4:153,484,876...153,631,986
Ensembl chr 4:153,484,876...153,593,773
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A
ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
ClinVar Annotator: match by OMIM:614872
OMIM
ClinVar
PMID:9090381 PMID:9536098 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 PMID:16257970 PMID:17336976 PMID:17576681 PMID:19877282 PMID:25016021 PMID:25741868 PMID:26287655 PMID:26627908 PMID:28492532 PMID:28944237 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
Peroxisome Biogenesis Disorder 7B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7B
ClinVar Annotator: match by OMIM:614873
OMIM
ClinVar
PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 PMID:16257970 PMID:19877282 PMID:25016021 PMID:25741868 PMID:26287655 PMID:26627908 PMID:28492532 PMID:28944237 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
peroxisome biogenesis disorder 8A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmut methylmalonyl-CoA mutase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A ClinVar PMID:25741868 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A OMIM
ClinVar
PMID:9837814 PMID:11890679 PMID:25741868 PMID:28492532 NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link
Peroxisome Biogenesis Disorder 8B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8B
ClinVar Annotator: match by OMIM:614877
OMIM
ClinVar
PMID:20647552 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26633545 PMID:28492532 PMID:30078639 PMID:31227335 NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link
Peroxisome Biogenesis Disorder, Complementation Group 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 ClinVar PMID:9536098 PMID:9683594 PMID:9700193 PMID:10862081 PMID:12794690 PMID:15542397 PMID:17041890 PMID:17576681 PMID:17702006 PMID:19105186 PMID:19127411 PMID:19142205 PMID:20695019 PMID:21031596 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26319495 PMID:27230853 PMID:28492532 PMID:30640048 NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
JBrowse link
Peroxisome Biogenesis Disorder, Complementation Group K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K ClinVar PMID:9536098 PMID:15146459 PMID:17576681 PMID:18285423 PMID:25741868 PMID:26627464 PMID:28492532 NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
JBrowse link
Pseudo-Zellweger Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO ClinVar Annotator: match by term: Pseudo Zellweger syndrome ClinVar PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 PMID:22864515 PMID:23181892 PMID:24033266 PMID:24108619 PMID:25741868 PMID:25967389 PMID:26970254 PMID:27290639 PMID:28492532 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
Zellweger Leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:9398847 PMID:11389485 PMID:16086329 PMID:16141001 PMID:21031596 PMID:25741868 PMID:28492532 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:9398847 PMID:11389485 PMID:16086329 PMID:16141001 PMID:21031596 PMID:25741868 PMID:28468868 PMID:28492532 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
Zellweger syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd3 ATP binding cassette subfamily D member 3 susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:1301993, PMID:1301993 RGD:1598658, RGD:1598658 NCBI chr 2:225,335,708...225,389,120
Ensembl chr 2:225,335,718...225,389,120
JBrowse link
G Cnpy3 canopy FGF signaling regulator 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:28492532 NCBI chr 9:16,543,715...16,558,441
Ensembl chr 9:16,543,688...16,558,456
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO RGD PMID:14673138 RGD:13782195 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Zellweger Spectrum
ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:17576681 PMID:19105186 PMID:21031596 PMID:21844578 PMID:21846392 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27469511 PMID:27848944 PMID:28492532 PMID:30755224 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Gnmt glycine N-methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:11810299 PMID:28492532 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
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G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10343282 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
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G Il2 interleukin 2 ISO RGD PMID:21888010 RGD:14747040 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO DNA:deletions, missense mutations, nonsense mutation: exon:multiple RGD PMID:16141001 RGD:11062374 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by OMIM:214100
ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
ClinVar Annotator: match by term: Zellweger Spectrum
DNA:SNP:exon 15: c.2531G>A (p. G844D) (mouse)
DNA:missense mutation:exon 15: p.G844D (c.2531G>A) (mouse)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:9536098 PMID:9539740 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:11439091 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:17055079 PMID:17576681 PMID:19105186 PMID:19877282 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:22871920 PMID:23247051 PMID:23757202 PMID:24033266 PMID:24503136 PMID:25412400 PMID:25525159 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26319495 PMID:26387595 PMID:26467025 PMID:26643206 PMID:27090541 PMID:27231023 PMID:27469511 PMID:27848944 PMID:27872819 PMID:27882258 PMID:28454995 PMID:28468868 PMID:28492532 PMID:28857144 PMID:30362618 PMID:30561787 PMID:30755224 PMID:31374812 PMID:31831025, PMID:31207289, PMID:24503136 RGD:25671426, RGD:25671425 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
ClinVar Annotator: match by term: Zellweger syndrome
CTD
ClinVar
PMID:9683594 PMID:9700193 PMID:10862081 PMID:12794690 PMID:15542397 PMID:17041890 PMID:17702006 PMID:19105186 PMID:19127411 PMID:19142205 PMID:20695019 PMID:21031596 PMID:21465523 PMID:25525159 PMID:25741868 PMID:26319495 PMID:28492532 PMID:30640048 NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
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G Pex11b peroxisomal biogenesis factor 11 beta ISS OMIM:214100 MouseDO NCBI chr 2:198,762,138...198,771,040
Ensembl chr 2:198,762,138...198,771,026
JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
CTD
ClinVar
PMID:9090384 PMID:9632816 PMID:9792857 PMID:10527683 PMID:10837480 PMID:14571262 PMID:14630978 PMID:15184617 PMID:15542397 PMID:19105186 PMID:19127411 PMID:19877282 PMID:21031596 PMID:21465523 PMID:24627108 PMID:25287621 PMID:25741868 PMID:26094004 PMID:26319495 PMID:28492532 PMID:29389947 NCBI chr10:70,512,785...70,516,494
Ensembl chr10:70,512,790...70,516,421
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G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10332040 PMID:19449432 NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146459 PMID:18285423 NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
ClinVar Annotator: match by term: Zellweger syndrome
CTD
ClinVar
PMID:11890679 PMID:25326635 PMID:25741868 PMID:28492532 PMID:30078639 PMID:31227335 NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10051604 NCBI chr13:90,514,324...90,530,825
Ensembl chr13:90,514,336...90,530,349
Ensembl chr18:90,514,336...90,530,349
JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
CTD
ClinVar
PMID:1546315 PMID:2454948 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 PMID:10528859 PMID:10652207 PMID:14630978 PMID:15542397 PMID:17041890 PMID:21031596 PMID:21465523 PMID:23430938 PMID:23590336 PMID:23829372 PMID:25741868 PMID:28089346 PMID:28492532, PMID:9288097, PMID:9382874 RGD:13207457, RGD:13207456 NCBI chr 2:98,251,756...98,269,185
Ensembl chr 2:98,252,925...98,269,184
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
ClinVar Annotator: match by term: Zellweger syndrome
CTD
ClinVar
PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 PMID:16257970 PMID:19877282 PMID:21031596 PMID:25741868 PMID:26287655 PMID:26319495 PMID:26627908 PMID:28492532 PMID:28944237 PMID:30366024 NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10942428 NCBI chr 1:7,685,209...7,726,238
Ensembl chr 1:7,685,338...7,726,401
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO RGD PMID:11583975, PMID:28866057, PMID:9288097 RGD:25440483, RGD:25440485, RGD:13207457 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
ClinVar Annotator: match by term: Zellweger syndrome
CTD
ClinVar
PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 PMID:11355018 PMID:11810299 PMID:11873320 PMID:15542397 PMID:15858711 PMID:16530715 PMID:17190851 PMID:17576681 PMID:19105186 PMID:19142205 PMID:19877282 PMID:21031596 PMID:21520333 PMID:22871920 PMID:23757202 PMID:24016303 PMID:24033266 PMID:24459294 PMID:25079577 PMID:25525159 PMID:25741868 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26669662 PMID:26700162 PMID:26943801 PMID:27302843 PMID:27779215 PMID:27848944 PMID:28492532 PMID:29220678 PMID:31831025 PMID:32399598 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO RGD PMID:8954107, PMID:10709665 RGD:13831312, RGD:13831337 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Zellweger syndrome ClinVar PMID:15542397 PMID:19105186 PMID:21465523 PMID:30640048 NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
JBrowse link
G Ppp2r5d protein phosphatase 2, regulatory subunit B', delta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:28492532 NCBI chr 9:16,580,995...16,610,425
Ensembl chr 9:16,586,803...16,609,631
JBrowse link
G Ptcra pre T-cell antigen receptor alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:28492532 NCBI chr 9:16,528,970...16,539,383
Ensembl chr 9:16,529,579...16,539,472
JBrowse link
G Scp2 sterol carrier protein 2 ISO RGD PMID:3555624 RGD:13782196 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    Nutritional and Metabolic Diseases 5273
      disease of metabolism 5273
        inherited metabolic disorder 2490
          peroxisomal disease 136
            peroxisomal biogenesis disorder 74
              Heimler syndrome 1 3
              Heimler syndrome 2 1
              Peroxisome Biogenesis Disorder 10B 1
              Peroxisome Biogenesis Disorder 11B 1
              Peroxisome Biogenesis Disorder 3B 1
              Peroxisome Biogenesis Disorder 4B 1
              Peroxisome Biogenesis Disorder 5B 1
              Peroxisome Biogenesis Disorder 6B 2
              Peroxisome Biogenesis Disorder 7B 1
              Peroxisome Biogenesis Disorder 8B 1
              Peroxisome Biogenesis Disorder, Complementation Group 1 + 6
              Peroxisome Biogenesis Disorder, Complementation Group 11 0
              Peroxisome Biogenesis Disorder, Complementation Group 12 0
              Peroxisome Biogenesis Disorder, Complementation Group 13 0
              Peroxisome Biogenesis Disorder, Complementation Group 14 + 1
              Peroxisome Biogenesis Disorder, Complementation Group 7 1
              Peroxisome Biogenesis Disorder, Complementation Group 9 + 1
              Peroxisome Biogenesis Disorder, Complementation Group D 0
              Peroxisome Biogenesis Disorder, Complementation Group E 0
              Peroxisome Biogenesis Disorder, Complementation Group G 0
              Peroxisome Biogenesis Disorder, Complementation Group H 0
              Peroxisome Biogenesis Disorder, Complementation Group J 0
              Peroxisome Biogenesis Disorder, Complementation Group K 1
              Peroxisome Biogenesis Disorder, Complementation Group R 0
              Zellweger syndrome + 26
              peroxisome biogenesis disorder 10A 1
              peroxisome biogenesis disorder 11A 2
              peroxisome biogenesis disorder 12A 1
              peroxisome biogenesis disorder 13A 1
              peroxisome biogenesis disorder 1A 16
              peroxisome biogenesis disorder 2A 1
              peroxisome biogenesis disorder 2B 44
              peroxisome biogenesis disorder 3A 1
              peroxisome biogenesis disorder 4A 1
              peroxisome biogenesis disorder 5A 1
              peroxisome biogenesis disorder 6A 3
              peroxisome biogenesis disorder 7A 2
              peroxisome biogenesis disorder 8A 2
Path 2
Term Annotations click to browse term
  disease 17014
    Developmental Disease 10686
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9164
        genetic disease 8677
          inherited metabolic disorder 2490
            peroxisomal disease 136
              peroxisomal biogenesis disorder 74
                Heimler syndrome 1 3
                Heimler syndrome 2 1
                Peroxisome Biogenesis Disorder 10B 1
                Peroxisome Biogenesis Disorder 11B 1
                Peroxisome Biogenesis Disorder 3B 1
                Peroxisome Biogenesis Disorder 4B 1
                Peroxisome Biogenesis Disorder 5B 1
                Peroxisome Biogenesis Disorder 6B 2
                Peroxisome Biogenesis Disorder 7B 1
                Peroxisome Biogenesis Disorder 8B 1
                Peroxisome Biogenesis Disorder, Complementation Group 1 + 6
                Peroxisome Biogenesis Disorder, Complementation Group 11 0
                Peroxisome Biogenesis Disorder, Complementation Group 12 0
                Peroxisome Biogenesis Disorder, Complementation Group 13 0
                Peroxisome Biogenesis Disorder, Complementation Group 14 + 1
                Peroxisome Biogenesis Disorder, Complementation Group 7 1
                Peroxisome Biogenesis Disorder, Complementation Group 9 + 1
                Peroxisome Biogenesis Disorder, Complementation Group D 0
                Peroxisome Biogenesis Disorder, Complementation Group E 0
                Peroxisome Biogenesis Disorder, Complementation Group G 0
                Peroxisome Biogenesis Disorder, Complementation Group H 0
                Peroxisome Biogenesis Disorder, Complementation Group J 0
                Peroxisome Biogenesis Disorder, Complementation Group K 1
                Peroxisome Biogenesis Disorder, Complementation Group R 0
                Zellweger syndrome + 26
                peroxisome biogenesis disorder 10A 1
                peroxisome biogenesis disorder 11A 2
                peroxisome biogenesis disorder 12A 1
                peroxisome biogenesis disorder 13A 1
                peroxisome biogenesis disorder 1A 16
                peroxisome biogenesis disorder 2A 1
                peroxisome biogenesis disorder 2B 44
                peroxisome biogenesis disorder 3A 1
                peroxisome biogenesis disorder 4A 1
                peroxisome biogenesis disorder 5A 1
                peroxisome biogenesis disorder 6A 3
                peroxisome biogenesis disorder 7A 2
                peroxisome biogenesis disorder 8A 2
paths to the root