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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:Zellweger syndrome
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Accession:DOID:905 term browser browse the term
Definition:A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. (DO)
Synonyms:exact_synonym: PBD, ZSS;   ZS;   ZWS;   Zellweger Disease;   Zellweger Like Syndrome;   Zellweger Spectrum;   Zellweger syndrome spectrum;   Zellweger's syndrome;   cerebro hepato renal syndrome;   cerebrohepatorenal syndrome;   congenital iron overload;   peroxisome biogenesis disorders, Zellweger syndrome spectrum
 primary_id: MESH:D015211
 xref: GARD:7917;   ICD10CM:E71.510;   NCI:C85239;   ORDO:912


show annotations for term's descendants           Sort by:
Zellweger syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc10 ATP binding cassette subfamily C member 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,657,242...14,677,178
Ensembl chr 9:14,657,264...14,677,178 		JBrowse link
G Abcd3 ATP binding cassette subfamily D member 3 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:1301993 PMID:1301993 RGD:1598658, RGD:1598658 NCBI chr 2:209,852,087...209,905,763
Ensembl chr 2:209,852,087...209,906,020 		JBrowse link
G Bicral BICRA like chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,100,253...14,185,368
Ensembl chr 9:14,154,209...14,183,671 		JBrowse link
G Bysl bystin-like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,382,806...13,392,557
Ensembl chr 9:13,382,557...13,394,339 		JBrowse link
G C9h6orf132 similar to human chromosome 6 open reading frame 132 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,524,822...13,561,756
Ensembl chr 9:13,525,395...13,561,585 		JBrowse link
G C9h6orf226 smilar to human chromosome 6 open reading frame 226 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,207,988...14,209,134
Ensembl chr 9:14,208,417...14,208,761 		JBrowse link
G Ccnd3 cyclin D3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371 		JBrowse link
G Cnpy3 canopy FGF signaling regulator 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,233,478...14,247,847
Ensembl chr 9:14,233,428...14,247,831 		JBrowse link
G Creb3l1 cAMP responsive element binding protein 3-like 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456 		JBrowse link
G Crip3 cysteine-rich protein 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,554,450...14,557,344
Ensembl chr 9:14,554,450...14,557,302 		JBrowse link
G Cry2 cryptochrome circadian regulator 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965 		JBrowse link
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741 		JBrowse link
G Cul9 cullin 9 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,435,948...14,479,552
Ensembl chr 9:14,436,111...14,479,548 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO RGD PMID:14673138 RGD:13782195 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551 		JBrowse link
G Dgkz diacylglycerol kinase zeta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099 		JBrowse link
G Dlk2 delta like non-canonical Notch ligand 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,677,102...14,681,584
Ensembl chr 9:14,676,562...14,681,594 		JBrowse link
G Dnph1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,481,296...14,484,034
Ensembl chr 9:14,481,066...14,484,022 		JBrowse link
G Foxp4 forkhead box P4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,058,506...13,115,406
Ensembl chr 9:13,058,476...13,114,879 		JBrowse link
G Frey1 Frey regulator of sperm-oocyte fusion 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chr 3:78,354,303...78,355,055
Ensembl chr 3:78,354,303...78,355,055 		JBrowse link
G Frs3 fibroblast growth factor receptor substrate 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,288,559...13,297,285
Ensembl chr 9:13,288,667...13,295,382 		JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome		 ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Gnmt glycine N-methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:26669662 PMID:27779215 More... NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434 		JBrowse link
G Gtpbp2 GTP binding protein 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,813,964...14,823,419
Ensembl chr 9:14,813,964...14,823,241 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10343282 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:21888010 RGD:14747040 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Klc4 kinesin light chain 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,337,164...14,351,075
Ensembl chr 9:14,337,534...14,351,066 		JBrowse link
G Klhdc3 kelch domain containing 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,302,345...14,308,736
Ensembl chr 9:14,302,354...14,308,736 		JBrowse link
G Large2 LARGE xylosyl- and glucuronyltransferase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chr 3:78,334,627...78,347,167
Ensembl chr 3:78,336,056...78,342,184 		JBrowse link
G Lrrc73 leucine rich repeat containing 73 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,726,157...14,730,144
Ensembl chr 9:14,726,158...14,729,158 		JBrowse link
G Mad2l1bp MAD2L1 binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,832,133...14,836,458
Ensembl chr 9:14,832,132...14,837,447 		JBrowse link
G Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chr 3:78,355,051...78,372,946
Ensembl chr 3:78,355,048...78,372,884 		JBrowse link
G Mdfi MyoD family inhibitor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,156,806...13,175,218
Ensembl chr 9:13,156,866...13,175,217 		JBrowse link
G Mea1 male-enhanced antigen 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,300,283...14,304,130
Ensembl chr 9:14,293,446...14,302,060 		JBrowse link
G Med20 mediator complex subunit 20 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,370,146...13,382,756
Ensembl chr 9:13,370,146...13,382,476 		JBrowse link
G Mrpl2 mitochondrial ribosomal protein L2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,333,233...14,337,006
Ensembl chr 9:14,333,234...14,337,040 		JBrowse link
G Mrps10 mitochondrial ribosomal protein S10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,614,897...13,624,819
Ensembl chr 9:13,614,897...13,624,779 		JBrowse link
G Mrps18a mitochondrial ribosomal protein S18A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,853,322...14,869,819
Ensembl chr 9:14,853,291...14,869,835 		JBrowse link
G Ncr2 natural cytotoxicity triggering receptor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:12,777,195...12,828,437 JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO DNA:deletions, missense mutations, nonsense mutation: exon:multiple RGD PMID:16141001 RGD:11062374 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon 15: p.G844D (c.2531G>A) (mouse)
DNA:SNP:exon 15: c.2531G>A (p. G844D) (mouse)
ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome		 CTD
ClinVar
MouseDO
RGD		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... RGD:25671425, RGD:25671426 NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome		 CTD
ClinVar		 PMID:9536098 PMID:9683594 PMID:9700193 PMID:10527683 PMID:10862081 More... NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISS
ISO		 OMIM:214100
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum		 MouseDO
ClinVar		 NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorder
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum		 CTD
ClinVar		 PMID:9090384 PMID:9536098 PMID:9632816 PMID:9792857 PMID:10527683 More... NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum		 CTD
ClinVar		 PMID:10332040 PMID:19449432 PMID:21031596 PMID:25741868 PMID:28492532 More... NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15146459 PMID:18285423 NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum		 CTD
ClinVar		 PMID:9536098 PMID:9837814 PMID:11890679 PMID:16199547 PMID:17576681 More... NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10051604 NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608 		JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome		 CTD
ClinVar
RGD		 PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 More... RGD:13207456, RGD:13207457 NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum		 CTD
ClinVar		 PMID:9090381 PMID:12717447 PMID:12851857 PMID:15542397 PMID:15858711 More... NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum		 CTD
ClinVar		 PMID:10942428 PMID:21031596 PMID:28492532 NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar
RGD		 PMID:25741868 PMID:26344566 PMID:28492532 PMID:11583975 PMID:9288097 More... RGD:25440483, RGD:13207457, RGD:25440485 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome		 CTD
ClinVar		 PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
G Pgc progastricsin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,257,462...13,265,682
Ensembl chr 9:13,257,462...13,265,682 		JBrowse link
G Phf21a PHD finger protein 21A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chr 3:78,158,760...78,331,903
Ensembl chr 3:78,194,549...78,331,865 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO RGD PMID:8954107 PMID:10709665 RGD:13831312, RGD:13831337 NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Polh DNA polymerase eta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,778,355...14,813,210
Ensembl chr 9:14,777,888...14,812,723 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Ppp2r5d protein phosphatase 2, regulatory subunit B', delta ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400 		JBrowse link
G Prickle4 prickle planar cell polarity protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,297,494...13,305,635
Ensembl chr 9:13,297,758...13,305,630 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Ptcra pre T-cell antigen receptor alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,218,907...14,229,141
Ensembl chr 9:14,218,802...14,229,235 		JBrowse link
G Ptk7 protein tyrosine kinase 7 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,352,155...14,418,473
Ensembl chr 9:14,351,202...14,418,494 		JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Zellweger Spectrum ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:30,559,063...30,569,409
Ensembl chr 4:30,559,087...30,569,406 		JBrowse link
G Rpl7l1 ribosomal protein L7-like 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,198,101...14,206,119
Ensembl chr 9:14,198,092...14,206,110 		JBrowse link
G Rrp36 ribosomal RNA processing 36 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,308,956...14,316,959
Ensembl chr 9:14,308,982...14,316,110 		JBrowse link
G Rsph9 radial spoke head component 9 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,840,115...14,852,950
Ensembl chr 9:14,840,115...14,860,062 		JBrowse link
G Scp2 sterol carrier protein 2 ISO RGD PMID:3555624 RGD:13782196 NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287 		JBrowse link
G Slc22a7 solute carrier family 22 member 7 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,547,073...14,554,354
Ensembl chr 9:14,547,849...14,553,921 		JBrowse link
G Slc35c1 solute carrier family 35 member C1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:9837814 PMID:11890679 PMID:20647552 PMID:20681997 PMID:28492532 NCBI chr 3:78,421,925...78,429,603
Ensembl chr 3:78,421,933...78,428,520 		JBrowse link
G Srf serum response factor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733 		JBrowse link
G Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,491,892...13,511,713
Ensembl chr 9:13,491,937...13,511,717 		JBrowse link
G Tbcc tubulin folding cofactor C ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,098,855...14,100,043
Ensembl chr 9:14,098,868...14,100,042 		JBrowse link
G Tfeb transcription factor EB ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,198,890...13,254,726
Ensembl chr 9:13,198,891...13,254,714 		JBrowse link
G Tjap1 tight junction associated protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,701,418...14,725,623
Ensembl chr 9:14,701,468...14,725,751 		JBrowse link
G Tomm6 translocase of outer mitochondrial membrane 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,304,269...13,305,637 JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203 		JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170 		JBrowse link
G Treml2 triggering receptor expressed on myeloid cells-like 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:12,694,453...12,705,379
Ensembl chr 9:12,694,697...12,705,324 		JBrowse link
G Treml4 triggering receptor expressed on myeloid cells-like 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:12,718,968...12,743,879
Ensembl chr 9:12,721,815...12,743,253 		JBrowse link
G Trerf1 transcriptional regulating factor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,631,619...13,858,326
Ensembl chr 9:13,634,126...13,857,029 		JBrowse link
G Ttbk1 tau tubulin kinase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,493,166...14,538,372
Ensembl chr 9:14,493,389...14,535,774 		JBrowse link
G Ubr2 ubiquitin protein ligase E3 component n-recognin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,982,427...14,062,315
Ensembl chr 9:13,982,329...14,062,139 		JBrowse link
G Usp49 ubiquitin specific peptidase 49 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:13,305,640...13,366,132
Ensembl chr 9:13,308,178...13,366,132 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Xpo5 exportin 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171 		JBrowse link
G Yipf3 Yip1 domain family, member 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,730,289...14,735,644
Ensembl chr 9:14,730,284...14,735,641 		JBrowse link
G Zfp318 zinc finger protein 318 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum ClinVar PMID:8670792 PMID:19877282 PMID:21031596 PMID:28492532 NCBI chr 9:14,562,958...14,601,557
Ensembl chr 9:14,563,313...14,601,409 		JBrowse link
Cerebrohepatorenal Syndrome, Variant Types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Cerebrohepatorenal syndrome, variant types ClinVar PMID:25741868 PMID:26344566 PMID:28492532 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
peroxisome biogenesis disorder 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: PEX3-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10A (Zellweger)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7562283 PMID:9536098 PMID:10942428 PMID:10958759 PMID:10968777 More... NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518 		JBrowse link
peroxisome biogenesis disorder 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14h2orf74 similar to human chromosome 2 open reading frame 74 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:28492532 NCBI chr14:97,493,579...97,496,697
Ensembl chr14:97,493,658...97,496,679 		JBrowse link
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:28492532 NCBI chr14:97,009,449...97,027,865
Ensembl chr14:97,009,491...97,028,588 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9480815 PMID:9536098 PMID:10332040 PMID:10441568 PMID:16006427 More... NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262 		JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:9536098 PMID:10332040 PMID:16199547 PMID:17576681 PMID:19449432 More... NCBI chr14:97,621,228...97,684,059
Ensembl chr14:97,621,391...97,684,046 		JBrowse link
G Sanbr SANT and BTB domain regulator of CSR ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:19449432 PMID:28492532 NCBI chr14:97,516,652...97,585,955
Ensembl chr14:97,516,413...97,581,346 		JBrowse link
G Usp34 ubiquitin specific peptidase 34 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:28492532 NCBI chr14:97,285,799...97,476,376
Ensembl chr14:97,286,018...97,476,376 		JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) ClinVar PMID:28492532 NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498 		JBrowse link
peroxisome biogenesis disorder 12A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687 		JBrowse link
G Casq1 calsequestrin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339 		JBrowse link
G Copa COPI coat complex subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874 		JBrowse link
G Dcaf8 DDB1 and CUL4 associated factor 8 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr13:84,609,838...84,667,025
Ensembl chr13:84,610,248...84,669,726 		JBrowse link
G Ncstn nicastrin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454 		JBrowse link
G Pea15 proliferation and apoptosis adaptor protein 15 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr13:84,657,815...84,667,437
Ensembl chr13:84,654,870...84,667,499 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger)		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:10051604 PMID:16199547 PMID:17576681 PMID:20683989 More... NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608 		JBrowse link
peroxisome biogenesis disorder 13A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex14 peroxisomal biogenesis factor 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 13A (Zellweger)		 OMIM
CTD
ClinVar		 PMID:15146459 PMID:18285423 PMID:25741868 PMID:28492532 NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272 		JBrowse link
peroxisome biogenesis disorder 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:11389485 PMID:12032265 More... NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:28492532 NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:28492532 NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608 		JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:16257970 PMID:25741868 PMID:28492532 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:7562283 PMID:10958759 PMID:10968777 PMID:25741868 NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar PMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:10408779 PMID:19877282 PMID:25525159 PMID:25741868 PMID:26467025 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr14:97,621,228...97,684,059
Ensembl chr14:97,621,391...97,684,046 		JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:30,559,063...30,569,409
Ensembl chr 4:30,559,087...30,569,406 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) ClinVar NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750 		JBrowse link
peroxisome biogenesis disorder 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex5 peroxisomal biogenesis factor 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2A (Zellweger)		 OMIM
CTD
ClinVar		 PMID:7719337 PMID:9536098 PMID:17576681 PMID:18712838 PMID:21031596 More... NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
peroxisome biogenesis disorder 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2b1 adaptor related protein complex 2 subunit beta 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chr10:68,099,397...68,205,023
Ensembl chr10:68,099,547...68,205,013 		JBrowse link
G Gas2l2 growth arrest-specific 2 like 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chr10:68,222,475...68,229,877
Ensembl chr10:68,222,475...68,229,881 		JBrowse link
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9090384 PMID:9354782 PMID:9536098 PMID:9632816 PMID:9792857 More... NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428 		JBrowse link
G Rasl10b RAS-like, family 10, member B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chr10:68,209,761...68,222,118
Ensembl chr10:68,210,275...68,220,376 		JBrowse link
G Slfn14 schlafen family member 14 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chr10:68,076,326...68,087,794 JBrowse link
G Slfn2 schlafen family member 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chr10:67,953,322...67,959,659
Ensembl chr10:67,953,171...67,959,458 		JBrowse link
G Slfn4 schlafen family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chr10:67,994,601...68,018,141
Ensembl chr10:68,000,028...68,018,138
Ensembl chr10:68,000,028...68,018,138 		JBrowse link
G Slfn5 schlafen family member 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chr10:67,881,068...67,895,013
Ensembl chr10:67,880,009...67,893,109 		JBrowse link
G Slfn9 schlafen family member 9 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chr10:67,909,105...67,955,912
Ensembl chr10:67,909,106...67,925,383 		JBrowse link
G Unc45b unc-45 myosin chaperone B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) ClinVar PMID:28492532 NCBI chr10:67,845,464...67,873,143
Ensembl chr10:67,845,462...67,873,389 		JBrowse link
peroxisome biogenesis disorder 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3515938 PMID:8670792 PMID:8940266 PMID:9536098 PMID:10408779 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
peroxisome biogenesis disorder 5A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5A (Zellweger)		 OMIM
CTD
ClinVar		 PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 More... NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404 		JBrowse link
peroxisome biogenesis disorder 6A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7565793 PMID:8982949 PMID:9536098 PMID:9683594 PMID:9700193 More... NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger) ClinVar NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750 		JBrowse link
peroxisome biogenesis disorder 7A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) ClinVar PMID:28492532 NCBI chr 4:154,152,776...154,353,274
Ensembl chr 4:154,153,834...154,302,590 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9090381 PMID:9536098 PMID:12717447 PMID:12851857 PMID:15542397 More... NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) ClinVar PMID:12851857 PMID:21031596 PMID:28492532 NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917 		JBrowse link
peroxisome biogenesis disorder 8A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmut methylmalonyl-CoA mutase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger) ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX16 defect		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:9837814 PMID:11890679 PMID:17576681 PMID:20647552 More... NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207 		JBrowse link
Pseudo-Zellweger Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO ClinVar Annotator: match by term: Pseudo Zellweger syndrome ClinVar PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 More... NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		JBrowse link
Zellweger Leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:11389485 PMID:12032265 More... NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207 		JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:96,050,380...96,072,928
Ensembl chr 2:96,045,958...96,073,404 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:10408779 PMID:19877282 PMID:25525159 PMID:25741868 PMID:26467025 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Zellweger leukodystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:30,559,063...30,569,409
Ensembl chr 4:30,559,087...30,569,406 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Zellweger syndrome 115
        Cerebrohepatorenal Syndrome, Variant Types 1
        Pseudo-Zellweger Syndrome 1
        Zellweger Leukodystrophy 6
        Zellweger Syndrome 2 0
        peroxisome biogenesis disorder 10A 1
        peroxisome biogenesis disorder 11A 7
        peroxisome biogenesis disorder 12A 8
        peroxisome biogenesis disorder 13A 1
        peroxisome biogenesis disorder 1A 16
        peroxisome biogenesis disorder 2A 1
        peroxisome biogenesis disorder 3A 10
        peroxisome biogenesis disorder 4A 1
        peroxisome biogenesis disorder 5A 1
        peroxisome biogenesis disorder 6A 2
        peroxisome biogenesis disorder 7A 3
        peroxisome biogenesis disorder 8A 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            peroxisomal disease 344
              peroxisomal biogenesis disorder 250
                Zellweger syndrome 115
                  Cerebrohepatorenal Syndrome, Variant Types 1
                  Pseudo-Zellweger Syndrome 1
                  Zellweger Leukodystrophy 6
                  Zellweger Syndrome 2 0
                  peroxisome biogenesis disorder 10A 1
                  peroxisome biogenesis disorder 11A 7
                  peroxisome biogenesis disorder 12A 8
                  peroxisome biogenesis disorder 13A 1
                  peroxisome biogenesis disorder 1A 16
                  peroxisome biogenesis disorder 2A 1
                  peroxisome biogenesis disorder 3A 10
                  peroxisome biogenesis disorder 4A 1
                  peroxisome biogenesis disorder 5A 1
                  peroxisome biogenesis disorder 6A 2
                  peroxisome biogenesis disorder 7A 3
                  peroxisome biogenesis disorder 8A 2
paths to the root